List of genetic disorders 59013 218343996 2008-06-10T05:58:33Z NCurse 539598 Reverted edits by [[Special:Contributions/98.216.174.166|98.216.174.166]] ([[User talk:98.216.174.166|talk]]) to last version by Jclemens {{tocright}} The following is a '''list of [[genetic disorders]]''' and if known, causal type of [[mutation]] and the [[chromosome]] involved. *P - [[Point mutation]], or any insertion/deletion entirely inside one [[gene]] *D - [[Genetic deletion|Deletion]] of a gene or genes *C - Whole chromosome extra, missing, or both - see [[Chromosome#Chromosomal aberrations|chromosomal aberrations]] *T - [[Trinucleotide repeat disorders]] - gene is extended in length '''More common disorders''' {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[22q11.2 deletion syndrome]] | D | 22q |- | [[Angelman syndrome]] | DCP | 15 |- | [[Canavan disease]] | | 17p |- | [[Celiac disease]] | | |- | [[Charcot-Marie-Tooth disease]] | | |- | [[Color blindness]] | P | X |- | [[Cri du Chat]] | D | 5 |- | [[Cystic fibrosis]] | P | 7q |- | [[Down syndrome]] | C | 21 |- | [[Duchenne muscular dystrophy]] | D | Xp |- | [[Haemophilia]] | P | X |- | [[Klinefelter syndrome]] | C | X |- | [[Neurofibromatosis]] | | 17q/22q/? |- | [[Phenylketonuria]] | P | 12q |- | [[Prader-Willi syndrome]] | DC | 15 |- | [[Sickle-cell disease]] | P | 11p |- | [[Tay-Sachs disease]] | P | 15 |- | [[Turner syndrome]] | C | X |} == 0–9 == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[1p36 deletion syndrome]] |D |1p36 |- |[[18p deletion syndrome]] | D | 18p |- | [[21-hydroxylase deficiency]] | | 6p21.3 |- | [[45,X]] <br><small>''see'' [[Turner syndrome]] </small> | C | X |- | [[47,XX,+21]] <br><small>''see'' [[Down syndrome]] </small> | C | 21 |- | [[47,XXX]] <br><small>''see'' [[triple X syndrome]] </small> | C | X |- | [[47,XXY]] <br><small>''see'' [[Klinefelter syndrome]] </small> | C | X |- | [[47,XY,+21]] <br><small>''see'' [[Down syndrome]] </small> | C | 21 |- | [[47,XYY syndrome]] | C | Y |- | 5-ALA dehydratase-deficient porphyria <br><small>''see'' [[ALA dehydratase deficiency]] </small> | | |- | 5-aminolaevulinic dehydratase deficiency porphyria <br><small>''see'' [[ALA dehydratase deficiency]] </small> | | |- | 5p deletion syndrome <br><small>''see'' [[Cri du chat]] </small> | D | 5p |- | 5p- syndrome <br><small>''see'' [[Cri du chat]] </small> | D | 5p |} == A == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[A-T]] <br><small>''see'' [[ataxia-telangiectasia]] </small> | | |- | [[AAT]] <br><small>''see'' [[alpha-1 antitrypsin deficiency]] </small> | | |- | [[Absence of vas deferens]] <br><small>''see'' [[congenital bilateral absence of vas deferens]] </small> | | |- | [[Absent vasa]] <br><small>''see'' [[congenital bilateral absence of vas deferens]] </small> | | |- | [[aceruloplasminemia]] | | |- | [[ACG2]] <br><small>''see'' [[achondrogenesis type II]] </small> | | |- | [[Achondroplasia|ACH]] <br><small>''see'' [[achondroplasia]] </small> | | |- | [[Achondrogenesis type II]] | | |- | [[achondroplasia]] | substitution | 4p16.3 |- | [[Acid beta-glucosidase deficiency]] <br><small>''see'' [[Gaucher disease type 1]] </small> | | |- | [[Acrocephalosyndactyly (Apert)]] <br><small>''see'' [[Apert syndrome]] </small> | | |- | [[acrocephalosyndactyly, type V]] <br><small>''see'' [[Pfeiffer syndrome]] </small> | | |- | [[Acrocephaly]] <br><small>''see'' [[Apert syndrome]] </small> | | |- | [[Acute cerebral Gaucher's disease]] <br><small>''see'' [[Gaucher disease type 2]] </small> | | |- | [[acute intermittent porphyria]] | | |- | [[ACY2 deficiency]] <br><small>''see'' [[Canavan disease]] </small> | | |- | [[Alzheimer's disease|AD]] | | |- | [[Adelaide-type craniosynostosis]] <br><small>''see'' [[Muenke syndrome]] </small> | | |- | [[Adenomatous Polyposis Coli]] <br><small>''see'' [[familial adenomatous polyposis]] </small> | | |- | [[Adenomatous Polyposis of the Colon]] <br><small>''see'' [[familial adenomatous polyposis]] </small> | | |- | [[ALAD deficiency porphyria|ADP]] <br><small>''see'' [[ALA dehydratase deficiency]] </small> | | |- | [[adenylosuccinate lyase deficiency]] | | |- | [[Adrenal gland disorders]] <br><small>''see'' [[21-hydroxylase deficiency]] </small> | | |- | [[Adrenogenital syndrome]] <br><small>''see'' [[21-hydroxylase deficiency]] </small> | | |- | [[Adrenoleukodystrophy]] | | |- | [[acute intermittent porphyria|AIP]] <br><small>''see'' [[acute intermittent porphyria]] </small> | | |- | [[androgen insensitivity syndrome|AIS]] <br><small>''see'' [[androgen insensitivity syndrome]] </small> | | |- | [[alkaptonuria|AKU]] <br><small>''see'' [[alkaptonuria]] </small> | | |- | [[ALA dehydratase porphyria]] <br><small>''see'' [[ALA dehydratase deficiency]] </small> | | |- | [[ALA-D porphyria]] <br><small>''see'' [[ALA dehydratase deficiency]] </small> | | |- | [[ALA dehydratase deficiency]] | | |- | [[Alcaptonuria]] <br><small>''see'' [[alkaptonuria]] </small> | | |- | [[Alexander disease]] | | |- | [[alkaptonuria]] | | |- | [[Alkaptonuric ochronosis]] <br><small>''see'' [[alkaptonuria]] </small> | | |- | [[alpha-1 antitrypsin deficiency]] | |14q32.1 |- | [[alpha-1 proteinase inhibitor]] <br><small>''see'' [[alpha-1 antitrypsin deficiency]] </small> | |14q32.1 |- | [[alpha-1 related emphysema]] <br><small>''see'' [[alpha-1 antitrypsin deficiency]] </small> | |14q32.1 |- | [[Alpha-galactosidase A deficiency]] <br><small>''see'' [[Fabry disease]] </small> |P |Xq22.1 |- | [[amyotrophic lateral sclerosis|ALS]] <br><small>''see'' [[amyotrophic lateral sclerosis]] </small> | | |- | [[Alstrom syndrome]] | | |- | [[ALX]] <br><small>''see'' [[Alexander disease]] </small> | | |- | [[Alzheimer disease]] | | |- | [[Alzheimer's disease]] <br><small>''see'' [[Alzheimer disease]] </small> | | |- | [[Amelogenesis Imperfecta]] <br><small>''see'' [[Amelogenesis imperfecta]] </small> | | |- | [[Amino levulinic acid dehydratase deficiency]] <br><small>''see'' [[ALA dehydratase deficiency]] </small> | | |- | [[Aminoacylase 2 deficiency]] <br><small>''see'' [[Canavan disease]] </small> | | |- | [[amyotrophic lateral sclerosis]] | | |- | [[Anderson-Fabry disease]] <br><small>''see'' [[Fabry disease]] </small> |P |Xq22.1 |- | [[androgen insensitivity syndrome]] | | |- | [[Anemia]] | | |- | [[Anemia, hereditary sideroblastic]] <br><small>''see'' [[X-linked sideroblastic anemia]] </small> | |X |- | [[Anemia, sex-linked hypochromic sideroblastic]] <br><small>''see'' [[X-linked sideroblastic anemia]] </small> | |X |- | [[Anemia, splenic, familial]] <br><small>''see'' [[Gaucher disease]] </small> | | |- | [[Angelman syndrome]] | | |- | [[Angiokeratoma Corporis Diffusum]] <br><small>''see'' [[Fabry's disease]] </small> |P |Xq22.1 |- | [[Angiokeratoma diffuse]] <br><small>''see'' [[Fabry's disease]] </small> | | |- | [[Angiomatosis retinae]] <br><small>''see'' [[von Hippel-Lindau disease]] </small> | | |- | [[ANH1]] <br><small>''see'' [[X-linked sideroblastic anemia]] </small> | |X |- | [[APC resistance, Leiden type]] <br><small>''see'' [[factor V Leiden thrombophilia]] </small> | | |- | [[Apert syndrome]] | | |- | [[AR deficiency]] <br><small>''see'' [[androgen insensitivity syndrome]] </small> | | |- | [[AR-CMT2]] <br><small>''see'' [[Charcot-Marie-Tooth disease, type 2]] </small> | | |- | [[Arachnodactyly]] <br><small>''see'' [[Marfan syndrome]] </small> | | |- | [[ARNSHL]] <br><small>''see'' [[Nonsyndromic deafness#autosomal recessive]] </small> | | |- | [[Arthro-ophthalmopathy, hereditary progressive]] <br><small>''see'' [[Stickler syndrome#COL2A1]] </small> | | |- | [[Arthrochalasis multiplex congenita]] <br><small>''see'' [[Ehlers-Danlos syndrome#arthrochalasia type]] </small> | | |- | [[AS]] <br><small>''see'' [[Angelman syndrome]] </small> | | |- | [[Asp deficiency]] <br><small>''see'' [[Canavan disease]] </small> | | |- | [[Aspa deficiency]] <br><small>''see'' [[Canavan disease]] </small> | | |- | [[Aspartoacylase deficiency]] <br><small>''see'' [[Canavan disease]] </small> | | |- | [[ataxia-telangiectasia]] | | |- | [[Autism-Dementia-Ataxia-Loss of Purposeful Hand Use syndrome]] <br><small>''see'' [[Rett syndrome]] </small> | | |- | [[autosomal dominant juvenile ALS]] <br><small>''see'' [[amyotrophic lateral sclerosis, type 4]] </small> | | |- | [[Autosomal dominant opitz G/BBB syndrome]] <br><small>''see'' [[22q11.2 deletion syndrome]] </small> | D | 22q |- | [[autosomal recessive form of juvenile ALS type 3]] <br><small>''see'' [[Amyotrophic lateral sclerosis#type 2]] </small> | | |- | [[Autosomal recessive nonsyndromic hearing loss]] <br><small>''see'' [[Nonsyndromic deafness#autosomal recessive]] </small> | | |- | [[Autosomal Recessive Sensorineural Hearing Impairment and Goiter]] <br><small>''see'' [[Pendred syndrome]] </small> | | |- | [[AxD]] <br><small>''see'' [[Alexander disease]] </small> | | |- | [[Ayerza syndrome]] <br><small>''see'' [[primary pulmonary hypertension]] </small> | | |} == B == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[B variant of the Hexosaminidase GM2 gangliosidosis]] <br><small>''see'' [[Sandhoff disease]] </small> | | |- | [[BANF]] <br><small>''see'' [[neurofibromatosis 2]] </small> | | |- | [[Beare-Stevenson cutis gyrata syndrome]] | |10q26 |- | [[Benign paroxysmal peritonitis]] <br><small>''see'' [[Mediterranean fever, familial]] </small> | | |- | [[Benjamin syndrome]] | | |- | [[beta thalassemia]] | | |- | [[BH4 Deficiency]] <br><small>''see'' [[tetrahydrobiopterin deficiency]] </small> | | |- | [[Bilateral Acoustic Neurofibromatosis]] <br><small>''see'' [[neurofibromatosis 2]] </small> | | |- | [[biotinidase deficiency]] | | |- | [[bladder cancer]] | | |- | [[Bleeding disorders]] <br><small>''see'' [[factor V Leiden thrombophilia]] </small> | | |- | [[Bloch-Sulzberger syndrome]] <br><small>''see'' [[incontinentia pigmenti]] </small> | |- |[[Bloom syndrome]] | |15q26.1 |- | [[Bone diseases]] | | |- | [[Bone marrow diseases]] <br><small>''see'' [[X-linked sideroblastic anemia]] </small> | | |- | [[Bonnevie-Ullrich syndrome]] <br><small>''see'' [[Turner syndrome]] </small> | | |- | [[Bourneville disease]] <br><small>''see'' [[tuberous sclerosis]] </small> | | |- | [[Bourneville phakomatosis]] <br><small>''see'' [[tuberous sclerosis]] </small> | | |- | [[Brain diseases]] <br><small>''see'' [[prion disease]] </small> | | |- | [[breast cancer]] | | |- |[[Birt-Hogg-Dubé syndrome]] | |17 |- | [[Brittle bone disease]] <br><small>''see'' [[osteogenesis imperfecta]] </small> | | |- | [[Broad Thumb-Hallux syndrome]] <br><small>''see'' [[Rubinstein-Taybi syndrome]] </small> | | |- | [[Bronze Diabetes]] <br><small>''see'' [[hemochromatosis]] </small> | | |- | [[Bronzed cirrhosis]] <br><small>''see'' [[hemochromatosis]] </small> | | |- | [[X-linked spinal-bulbar muscle atrophy|Bulbospinal muscular atrophy, X-linked]] <br><small>''see'' [[Kennedy disease]] </small> | | |- | [[Burger-Grutz syndrome]] <br><small>''see'' [[lipoprotein lipase deficiency, familial]] </small> | | |} == C == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[CADASIL]] |P |3 |- | [[CGD Chronic Granulomatous Disorder]] | | |- | [[Camptomelic dysplasia]] |C |17q24.3-q25.1 |- | [[Canavan disease]] | | |- | [[Cancer]] | | |- | [[Cancer Family syndrome]] <br><small>''see'' [[hereditary nonpolyposis colorectal cancer]] </small> | | |- | [[Cancer of breast]] <br><small>''see'' [[breast cancer]] </small> | | |- | [[Cancer of the bladder]] <br><small>''see'' [[bladder cancer]] </small> | | |- | [[Carboxylase Deficiency, Multiple, Late-Onset]] <br><small>''see'' [[biotinidase deficiency]] </small> |P |3 |- | [[Cardiomyopathy]] <br><small>''see'' [[Noonan syndrome]] </small> | | |- | Cat cry syndrome <br><small>''see'' [[Cri du chat]] </small> | | |- | [[CAVD]] <br><small>''see'' [[congenital bilateral absence of vas deferens]] </small> | | |- | [[Caylor cardiofacial syndrome]] <br><small>''see'' [[22q11.2 deletion syndrome]] </small> | D | 22q |- | [[CBAVD]] <br><small>''see'' [[congenital bilateral absence of vas deferens]] </small> | | |- | [[Celiac Disease]] | | |- | [[CEP]] <br><small>''see'' [[congenital erythropoietic porphyria]] </small> | | |- | [[Ceramide trihexosidase deficiency]] <br><small>''see'' [[Fabry disease]] </small> | |X |- | [[Cerebelloretinal Angiomatosis, familial]] <br><small>''see'' [[von Hippel-Lindau disease]] </small> |P |3 (p26-p25) |- | [[Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy]] <br><small>''see'' [[CADASIL]] </small> |P |3 |- | [[Cerebral autosomal dominant ateriopathy with subcortical infarcts and leukoencephalopathy]] <br><small>''see'' [[CADASIL]] </small> |P |3 |- | [[Cerebral sclerosis]] <br><small>''see'' [[tuberous sclerosis]] </small> | |9 (q34), 16 (p13.3) |- | [[Cerebroatrophic Hyperammonemia]] <br><small>''see'' [[Rett syndrome]] </small> | |X |- | [[Cerebroside Lipidosis syndrome]] <br><small>''see'' [[Gaucher disease]] </small> |P |1(q21) |- | [[CF]] <br><small>''see'' [[cystic fibrosis]] </small> | D (most common); or substitution | CFTR (7q31.2) |- | [[CH]] <br><small>''see'' [[congenital hypothyroidism]] </small> | | |- | [[Charcot disease]] <br><small>''see'' [[amyotrophic lateral sclerosis]] </small> | | |- | [[Charcot-Marie-Tooth disease]] | | |- | [[Chondrodystrophia]] <br><small>''see'' [[achondroplasia]] </small> | | |- | [[Chondrodystrophy syndrome]] <br><small>''see'' [[achondroplasia]] </small> | | |- | [[Chondrodystrophy with sensorineural deafness]] <br><small>''see'' [[otospondylomegaepiphyseal dysplasia]] </small> | | |- | [[Chondrogenesis imperfecta]] <br><small>''see'' [[achondrogenesis, type II]] </small> | | |- | [[Choreoathetosis self-mutilation hyperuricemia syndrome]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> |P |X |- | [[Classic Galactosemia]] <br><small>''see'' [[galactosemia]] </small> |P |9 (p13) |- | [[Classical Ehlers-Danlos syndrome]] <br><small>''see'' [[Ehlers-Danlos syndrome#classical type]] </small> | | |- | [[Classical Phenylketonuria]] <br><small>''see'' [[phenylketonuria]] </small> | | |- | [[Cleft lip and palate]] <br><small>''see'' [[Stickler syndrome]] </small> | | |- | [[Cloverleaf skull with thanatophoric dwarfism]] <br><small>''see'' [[Thanatophoric dysplasia#type 2]] </small> | | |- | CLS <br><small>''see'' [[Coffin-Lowry syndrome]] </small> | | |- | [[Charcot-Marie-Tooth disease|CMT]] <br><small>''see'' [[Charcot-Marie-Tooth disease]] </small> | | |- | [[Cockayne syndrome]] | | |- | [[Coffin-Lowry syndrome]] | | |- | [[collagenopathy, types II and XI]] | | |- | [[Colon Cancer, familial Nonpolyposis]] <br><small>''see'' [[hereditary nonpolyposis colorectal cancer]] </small> | | |- | [[Colon cancer, familial]] <br><small>''see'' [[familial adenomatous polyposis]] </small> | | |- | [[Colorectal Cancer]] | | |- | [[Complete HPRT deficiency]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> | | |- | [[Complete hypoxanthine-guanine phosphoribosyltransferase deficiency]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> | | |- | [[Compression neuropathy]] <br><small>''see'' [[hereditary neuropathy with liability to pressure palsies]] </small> | | |- | [[Congenital adrenal hyperplasia]] <br><small>''see'' [[21-hydroxylase deficiency]] </small> | | |- | [[Congenital absence of the vas deferens|congenital bilateral absence of vas deferens]] | | |- | [[Congenital erythropoietic porphyria]] | | |- | [[Congenital heart disease]] | | |- | [[Congenital hypomyelination]] <br><small>''see'' [[Charcot-Marie-Tooth disease#Type 1]]</small> <br><small>''see'' [[Charcot-Marie-Tooth disease#Type 4]] </small> | | |- | [[Congenital hypothyroidism]] | | |- | [[Methemoglobinemia#Congenital methaemoglobinaemia|Congenital methemoglobinemia]] | | |- | [[Congenital osteosclerosis]] <br><small>''see'' [[achondroplasia]] </small> | | |- | [[Congenital sideroblastic anaemia]] <br><small>''see'' [[X-linked sideroblastic anemia]] </small> | |X |- | [[Connective tissue disease]] | | |- | [[Conotruncal anomaly face syndrome]] <br><small>''see'' [[22q11.2 deletion syndrome]] </small> | D | 22q |- | [[Cooley's Anemia]] <br><small>''see'' [[beta thalassemia]] </small> | | |- | [[Copper storage disease]] <br><small>''see'' [[Wilson disease]] </small> | |13 (q14.3) |- | [[Copper transport disease]] <br><small>''see'' [[Menkes disease|Menkes syndrome]] </small> | | |- | [[Coproporphyria, hereditary]] <br><small>''see'' [[hereditary coproporphyria]] </small> | | |- | [[Coproporphyrinogen oxidase deficiency]] <br><small>''see'' [[hereditary coproporphyria]] </small> | | |- | [[Cowden syndrome]] | | |- | [[CPO deficiency]] <br><small>''see'' [[hereditary coproporphyria]] </small> | | |- | [[CPRO deficiency]] <br><small>''see'' [[hereditary coproporphyria]] </small> | | |- | [[CPX deficiency]] <br><small>''see'' [[hereditary coproporphyria]] </small> | | |- | [[Craniofacial dysarthrosis]] <br><small>''see'' [[Crouzon syndrome]] </small> | | |- | [[Craniofacial Dysostosis]] <br><small>''see'' [[Crouzon syndrome]] </small> | | |- | [[Cretinism]] <br><small>''see'' [[congenital hypothyroidism]] </small> | | |- | [[Creutzfeldt-Jakob disease]] <br><small>''see'' [[prion disease]] </small> | | |- | [[Cri du chat]] | D | 5p |- | [[Crohn's disease]], [[fibrostenosing]] | P | 16q12 |- | [[Crouzon syndrome]] | | FGFR2 (10q25.3-q26) |- | [[Crouzon syndrome with acanthosis nigricans]] <br><small>''see'' [[Crouzonodermoskeletal syndrome]] </small> | | |- | [[Crouzonodermoskeletal syndrome]] | | |- | CS <br><small>''see'' [[Cockayne syndrome]]<br>''see'' [[Cowden syndrome]] </small> | | |- | [[Curschmann-Batten-Steinert syndrome]] <br><small>''see'' [[myotonic dystrophy]] </small> | | |- | [[cutis gyrata syndrome of Beare-Stevenson]] <br><small>''see'' [[Beare-Stevenson cutis gyrata syndrome]] </small> | | |} == D == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[D-glycerate dehydrogenase deficiency]] <br><small>''see'' [[hyperoxaluria, primary]] </small> | | |- | [[Dappled metaphysis syndrome]] <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small> | | |- | [[DAT - Dementia Alzheimer's type]] <br><small>''see'' [[Alzheimer disease]] </small> | |- | [[Genetic hypercalciuria]] <br><small>''see'' [[Dent's disease]] </small> | |Xp11.22 |- | [[DBMD]] <br><small>''see'' [[muscular dystrophy, Duchenne and Becker types]] </small> | | |- | [[Deafness with goiter]] <br><small>''see'' [[Pendred syndrome]] </small> | | |- | [[Deafness-retinitis pigmentosa syndrome]] <br><small>''see'' [[Usher syndrome]] </small> | | |- | [[Deficiency disease, Phenylalanine Hydroxylase]] <br><small>''see'' [[phenylketonuria]] </small> | P | 12q |- | [[Degenerative nerve diseases]] | | |- | [[De Grouchy Syndrome|de Grouchy syndrome 1]] <br><small>''see'' [[De Grouchy Syndrome|18p deletion syndrome]] </small> | D | 18p |- | [[Dejerine-Sottas syndrome]] <br><small>''see'' [[Charcot-Marie-Tooth disease]] </small> | | |- | [[Delta-aminolevulinate dehydratase deficiency porphyria]] <br><small>''see'' [[ALA dehydratase deficiency]] </small> | | |- | [[Dementia]] <br><small>''see'' [[CADASIL]] </small> | | |- | [[demyelinogenic leukodystrophy]] <br><small>''see'' [[Alexander disease]] </small> | | |- | [[Dermatosparactic type of Ehlers-Danlos syndrome]] <br><small>''see'' [[Ehlers-Danlos syndrome#dermatosparaxis type]] </small> | | |- | [[Dermatosparaxis]] <br><small>''see'' [[Ehlers-Danlos syndrome#dermatosparaxis type]] </small> | | |- | [[developmental disabilities|Developmental Disabilities]] | | |- | [[dHMN]] <br><small>''see'' [[Amyotrophic lateral sclerosis#type 4]] </small> | | |- | [[DHMN-V]] <br><small>''see'' [[distal spinal muscular atrophy, type V]] </small> | | |- | [[DHTR deficiency]] <br><small>''see'' [[androgen insensitivity syndrome]] </small> | |X |- | [[Diffuse Globoid Body Sclerosis]] <br><small>''see'' [[Krabbe disease]] </small> | | |- | [[DiGeorge syndrome]] | D | 22q |- | [[Dihydrotestosterone receptor deficiency]] <br><small>''see'' [[androgen insensitivity syndrome]] </small> | |X |- | [[distal spinal muscular atrophy, type V]] | | |- | [[DM1]] <br><small>''see'' [[Myotonic dystrophy#type 1]] </small> |T |19 |- | [[DM2]] <br><small>''see'' [[Myotonic dystrophy#type 2]] </small> |T |3 |- | [[Down syndrome]] | |21 |- | [[DSMAV]] <br><small>''see'' [[distal spinal muscular atrophy, type V]] </small> | | |- | [[DSN]] <br><small>''see'' [[Charcot-Marie-Tooth disease#type 4]] </small> | | |- | [[DSS (disorder)|DSS]] <br><small>''see'' [[Charcot-Marie-Tooth disease, type 4]] </small> | | |- | [[Duchenne/Becker muscular dystrophy]] <br><small>''see'' [[muscular dystrophy, Duchenne and Becker types]] </small> | | |- | [[Dwarf, achondroplastic]] <br><small>''see'' [[achondroplasia]] </small> | |3 |- | [[Dwarf, thanatophoric]] <br><small>''see'' [[thanatophoric dysplasia]] </small> | | |- | [[Dwarfism]] | | |- | [[Dwarfism-retinal atrophy-deafness syndrome]] <br><small>''see'' [[Cockayne syndrome]] </small> | | |- | [[dysmyelinogenic leukodystrophy]] <br><small>''see'' [[Alexander disease]] </small> | | |- | [[Dystrophia myotonica]] <br><small>''see'' [[myotonic dystrophy]] </small> |T |19 |- | [[dystrophia retinae pigmentosa-dysostosis syndrome]] <br><small>''see'' [[Usher syndrome]] </small> | | |} == E == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[Early-Onset familial alzheimer disease (EOFAD)]] <br><small>''see'' [[Alzheimer disease#type 1]]</small> <br><small>''see'' [[Alzheimer disease#type 3]]</small> <br><small>''see'' [[Alzheimer disease#type 4]] </small> | | |- | [[EDS]] <br><small>''see'' [[Ehlers-Danlos syndrome]] </small> | | |- | [[Ehlers-Danlos syndrome]] | | |- | [[Ekman-Lobstein disease]] <br><small>''see'' [[osteogenesis imperfecta]] </small> | | |- | [[Entrapment neuropathy]] <br><small>''see'' [[hereditary neuropathy with liability to pressure palsies]] </small> | | |- | [[Epiloia]] <br><small>''see'' [[tuberous sclerosis]] </small> | | |- | [[EPP]] <br><small>''see'' [[erythropoietic protoporphyria]] </small> | | |- | [[Erythroblastic anemia]] <br><small>''see'' [[beta thalassemia]] </small> | | |- | [[Erythrohepatic protoporphyria]] <br><small>''see'' [[erythropoietic protoporphyria]] </small> | | |- | [[Erythroid 5-aminolevulinate synthetase deficiency]] <br><small>''see'' [[X-linked sideroblastic anemia]] </small> | | |- | [[Erythropoietic porphyria]] <br><small>''see'' [[congenital erythropoietic porphyria]] </small> | | |- | [[erythropoietic protoporphyria]] | | |- | [[Erythropoietic uroporphyria]] <br><small>''see'' [[congenital erythropoietic porphyria]] </small> | | |- | [[Eye cancer]] <br><small>''see'' [[retinoblastoma FA - Friedreich ataxia]]</small> <br><small>''see'' [[Friedreich ataxia]] </small> | | |} == F == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[Fabry disease]] |P |Xq22.1 |- | [[Facial injuries and disorders]] | | |- | [[factor V Leiden thrombophilia]] | | |- | [[FALS]] <br><small>''see'' [[amyotrophic lateral sclerosis]] </small> | | |- | [[familial acoustic neuroma]] <br><small>''see'' [[neurofibromatosis type II]] </small> | | |- | [[familial adenomatous polyposis]] | | |- | [[familial Alzheimer disease (FAD)]] <br><small>''see'' [[Alzheimer disease]] </small> | | |- | [[familial amyotrophic lateral sclerosis]] <br><small>''see'' [[amyotrophic lateral sclerosis]] </small> | | |- | [[familial dysautonomia]] | | |- | [[familial fat-induced hypertriglyceridemia]] <br><small>''see'' [[lipoprotein lipase deficiency, familial]] </small> | | |- | [[familial hemochromatosis]] <br><small>''see'' [[hemochromatosis]] </small> | | |- | [[familial LPL deficiency]] <br><small>''see'' [[lipoprotein lipase deficiency, familial]] </small> | | |- | [[familial nonpolyposis colon cancer]] <br><small>''see'' [[hereditary nonpolyposis colorectal cancer]] </small> | | |- | [[familial paroxysmal polyserositis]] <br><small>''see'' [[Mediterranean fever, familial]] </small> | | |- | [[familial PCT]] <br><small>''see'' [[porphyria cutanea tarda]] </small> | | |- | [[familial pressure sensitive neuropathy]] <br><small>''see'' [[hereditary neuropathy with liability to pressure palsies]] </small> | | |- | [[familial primary pulmonary hypertension (FPPH)]] <br><small>''see'' [[primary pulmonary hypertension]] </small> | | |- | [[Familial Turner syndrome]] <br><small>''see'' [[Noonan syndrome]] </small> | | |- | [[familial vascular leukoencephalopathy]] <br><small>''see'' [[CADASIL]] </small> | | |- | [[FAP]] <br><small>''see'' [[familial adenomatous polyposis]] </small> | | |- | [[FD]] <br><small>''see'' [[familial dysautonomia]] </small> | | |- | [[Female pseudo-Turner syndrome]] <br><small>''see'' [[Noonan syndrome]] </small> | | |- | [[Ferrochelatase deficiency]] <br><small>''see'' [[erythropoietic protoporphyria]] </small> | | |- | [[ferroportin disease]] <br><small>''see'' [[Haemochromatosis#type 4]] </small> | | |- | [[Fever]] <br><small>''see'' [[Mediterranean fever, familial]] </small> | | |- | [[FGFR3-associated coronal synostosis]] <br><small>''see'' [[Muenke syndrome]] </small> | | |- | [[Fibrinoid degeneration of astrocytes]] <br><small>''see'' [[Alexander disease]] </small> | | |- | [[Fibrocystic disease of the pancreas]] <br><small>''see'' [[cystic fibrosis]] </small> | | |- | [[FMF]] <br><small>''see'' [[Mediterranean fever, familial]] </small> | | |- | [[Folling disease]] <br><small>''see'' [[phenylketonuria]] </small> | | |- | [[fra(X) syndrome]] <br><small>''see'' [[fragile X syndrome]] </small> | | Xq27.3 |- | [[fragile X syndrome]] | | Xq27.3 |- | [[Fragilitas ossium]] <br><small>''see'' [[osteogenesis imperfecta]] </small> | | |- | [[FRAXA syndrome]] <br><small>''see'' [[fragile X syndrome]] </small> | | Xq27.3 |- | [[FRDA]] <br><small>''see'' [[Friedreich ataxia]] </small> | | |- | [[Friedreich's ataxia|Friedreich ataxia]] | | |- | [[FXS]] <br><small>''see'' [[fragile X syndrome]] </small> | | Xq27.3 |} == G == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[G6PD deficiency]] <br> | | |- | [[Galactokinase deficiency disease]] <br><small>''see'' [[galactosemia]] </small> | | |- | [[Galactose-1-phosphate uridyl-transferase deficiency disease]] <br><small>''see'' [[galactosemia]] </small> | | |- | [[galactosemia]] | | |- | [[Galactosylceramidase deficiency disease]] <br><small>''see'' [[Krabbe disease]] </small> | | |- | [[Galactosylceramide lipidosis]] <br><small>''see'' [[Krabbe disease]] </small> | | |- | [[galactosylcerebrosidase deficiency]] <br><small>''see'' [[Krabbe disease]] </small> | | |- | [[galactosylsphingosine lipidosis]] <br><small>''see'' [[Krabbe disease]] </small> | | |- | [[GALC deficiency]] <br><small>''see'' [[Krabbe disease]] </small> | | |- | [[GALT deficiency]] <br><small>''see'' [[galactosemia]] </small> | | |- | [[Gaucher disease]] | | |- | [[Gaucher-like disease]] <br><small>''see'' [[pseudo-Gaucher disease]] </small> | | |- | [[GBA deficiency]] <br><small>''see'' [[Gaucher disease type 1]] </small> | | |- | [[Gaucher's disease|GD]] <br><small>''see'' [[Gaucher's disease]] </small> | | |- | [[Genetic brain disorders]] | | |- | [[genetic emphysema]] <br><small>''see'' [[alpha-1 antitrypsin deficiency]] </small> | | |- | [[genetic hemochromatosis]] <br><small>''see'' [[hemochromatosis]] </small> | | |- | [[Giant cell hepatitis, neonatal]] <br><small>''see'' [[Neonatal hemochromatosis]] </small> | | |- | [[GLA deficiency]] <br><small>''see'' [[Fabry disease]] </small> | | |- | [[Glioblastoma, retinal]] <br><small>''see'' [[retinoblastoma]] </small> | | |- | [[Glioma, retinal]] <br><small>''see'' [[retinoblastoma]] </small> | | |- | [[globoid cell leukodystrophy (GCL, GLD)]] <br><small>''see'' [[Krabbe disease]] </small> | | |- | [[globoid cell leukoencephalopathy]] <br><small>''see'' [[Krabbe disease]] </small> | | |- | [[Glucocerebrosidase deficiency]] <br><small>''see'' [[Gaucher disease]] </small> | | |- | [[Glucocerebrosidosis]] <br><small>''see'' [[Gaucher disease]] </small> | | |- | [[Glucosyl cerebroside lipidosis]] <br><small>''see'' [[Gaucher disease]] </small> | | |- | [[Glucosylceramidase deficiency]] <br><small>''see'' [[Gaucher disease]] </small> | | |- | [[Glucosylceramide beta-glucosidase deficiency]] <br><small>''see'' [[Gaucher disease]] </small> | | |- | [[Glucosylceramide lipidosis]] <br><small>''see'' [[Gaucher disease]] </small> | | |- | [[Glyceric aciduria]] <br><small>''see'' [[hyperoxaluria, primary]] </small> | | |- | [[Glycine encephalopathy]] <br><small>''see'' [[Nonketotic hyperglycinemia]] </small> | | |- | [[Glycolic aciduria]] <br><small>''see'' [[hyperoxaluria, primary]] </small> | | |- | [[GM2 gangliosidosis, type 1]] <br><small>''see'' [[Tay-Sachs disease]] </small> | | |- | [[Goiter-deafness syndrome]] <br><small>''see'' [[Pendred syndrome]] </small> | | |- | [[Graefe-Usher syndrome]] <br><small>''see'' [[Usher syndrome]] </small> | | |- | [[Gronblad-Strandberg syndrome]] <br><small>''see'' [[pseudoxanthoma elasticum]] </small> | | |- | [[Guenther porphyria]] <br><small>''see'' [[congenital erythropoietic porphyria]] </small> | | |- | [[Gunther disease]] <br><small>''see'' [[congenital erythropoietic porphyria]] </small> | | |} == H == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[Haemochromatosis]] <br><small>''see'' [[hemochromatosis]] </small> | | |- | [[Hallgren syndrome]] <br><small>''see'' [[Usher syndrome]] </small> | |- | [[Harlequin Ichthyosis]] | | |- | [[Hb S disease]] <br><small>''see'' [[sickle cell anemia]] </small> | | |- | [[HCH]] <br><small>''see'' [[hypochondroplasia]] </small> | | |- | [[HCP]] <br><small>''see'' [[hereditary coproporphyria]] </small> | | |- | [[Head and brain malformations]] | | |- | [[Hearing disorders and deafness]] | | |- | [[Hearing problems in children]] | | |- | [[HEF2A]] <br><small>''see'' [[hemochromatosis#type 2]] </small> | | |- | [[HEF2B]] <br><small>''see'' [[hemochromatosis#type 2]] </small> | | |- | [[Hematoporphyria]] <br><small>''see'' [[porphyria]] </small> | | |- | [[Heme synthetase deficiency]] <br><small>''see'' [[erythropoietic protoporphyria]] </small> | | |- | [[Hemochromatoses]] <br><small>''see'' [[hemochromatosis]] </small> | | |- | [[hemochromatosis]] | | |- | [[hemoglobin M disease]] <br><small>''see'' [[methemoglobinemia#beta-globin type]] </small> | | |- | [[Hemoglobin S disease]] <br><small>''see'' [[sickle cell anemia]] </small> | | |- | [[hemophilia]] | | |- | [[HEP]] <br><small>''see'' [[hepatoerythropoietic porphyria]] </small> | | |- | [[hepatic AGT deficiency]] <br><small>''see'' [[hyperoxaluria, primary]] </small> | | |- | [[hepatoerythropoietic porphyria]] | | |- | [[Hepatolenticular degeneration syndrome]] <br><small>''see'' [[Wilson disease]] </small> | | |- | [[Hereditary arthro-ophthalmopathy]] <br><small>''see'' [[Stickler syndrome]] </small> | | |- | [[Hereditary coproporphyria]] | | |- | [[Hereditary dystopic lipidosis]] <br><small>''see'' [[Fabry disease]] </small> | | |- | [[Hereditary hemochromatosis (HHC)]] <br><small>''see'' [[hemochromatosis]] </small> | | |- | [[Hereditary Inclusion Body Myopathy]] <br><small>''see'' [[skeletal muscle regeneration]] </small>| | | |- | [[Hereditary iron-loading anemia]] <br><small>''see'' [[X-linked sideroblastic anemia]] </small> | | |- | [[Hereditary motor and sensory neuropathy]] <br><small>''see'' [[Charcot-Marie-Tooth disease]] </small> | | |- | [[Hereditary motor neuronopathy]] <br><small>''see'' [[spinal muscular atrophy]] </small> | | |- | [[Hereditary motor neuronopathy, type V]] <br><small>''see'' [[distal spinal muscular atrophy, type V]] </small> | | |- | [[Hereditary Multiple Exostoses]] | |- | [[Hereditary nonpolyposis colorectal cancer]] |DNA mismatch repair dysfunction usually in [[MSH2]] and MLH1 genes |usually chromosomes 2 and 3 |- | [[Hereditary periodic fever syndrome]] <br><small>''see'' [[Mediterranean fever, familial]] </small> | | |- | [[Hereditary Polyposis Coli]] <br><small>''see'' [[familial adenomatous polyposis]] </small> | | |- | [[Hereditary pulmonary emphysema]] <br><small>''see'' [[alpha-1 antitrypsin deficiency]] </small> | | |- | [[Hereditary resistance to activated protein C]] <br><small>''see'' [[factor V Leiden thrombophilia]] </small> | | |- | [[Hereditary sensory and autonomic neuropathy type III]] <br><small>''see'' [[familial dysautonomia]] </small> | | |- | [[Hereditary spastic paraplegia]] <br><small>''see'' [[infantile-onset ascending hereditary spastic paralysis]] </small> | | |- | [[Hereditary spinal ataxia]] <br><small>''see'' [[Friedreich ataxia]] </small> | | |- | [[Hereditary spinal sclerosis]] <br><small>''see'' [[Friedreich ataxia]] </small> | | |- | [[Herrick's anemia]] <br><small>''see'' [[sickle cell anemia]] </small> | | |- | [[Heterozygous OSMED]] <br><small>''see'' [[Weissenbacher-Zweymüller syndrome]] </small> | | |- | [[Heterozygous otospondylomegaepiphyseal dysplasia]] <br><small>''see'' [[Weissenbacher-Zweymüller syndrome]] </small> | | |- | [[HexA deficiency]] <br><small>''see'' [[Tay-Sachs disease]] </small> | | |- | [[Hexosaminidase A deficiency]] <br><small>''see'' [[Tay-Sachs disease]] </small> | | |- | [[Hexosaminidase alpha-subunit deficiency (variant B)]] <br><small>''see'' [[Tay-Sachs disease]] </small> | | |- | [[HFE-associated hemochromatosis]] <br><small>''see'' [[hemochromatosis]] </small> | | |- | [[Hutchinson-Gilford progeria syndrome|HGPS]] <br><small>''see'' [[Progeria|Hutchinson-Gilford progeria syndrome]] </small> | | |- | [[Hippel-Lindau disease]] <br><small>''see'' [[von Hippel-Lindau disease]] </small> | | |- | [[HLAH]] <br><small>''see'' [[hemochromatosis]] </small> | | |- | [[HMN V]] <br><small>''see'' [[distal spinal muscular atrophy, type V]] </small> | | |- | [[HMSN]] <br><small>''see'' [[Charcot-Marie-Tooth disease]] </small> | | |- | [[HNPCC]] <br><small>''see'' [[hereditary nonpolyposis colorectal cancer]] </small> | | |- | [[HNPP]] <br><small>''see'' [[hereditary neuropathy with liability to pressure palsies]] </small> | | |- | [[homocystinuria]] | | |- | [[Homogentisic acid oxidase deficiency]] <br><small>''see'' [[alkaptonuria]] </small> | | |- | [[Homogentisic acidura]] <br><small>''see'' [[alkaptonuria]] </small> | | |- | [[Homozygous porphyria cutanea tarda]] <br><small>''see'' [[hepatoerythropoietic porphyria]] </small> | | |- | [[HP1 (genetic disorder)|HP1]] <br><small>''see'' [[hyperoxaluria, primary]] </small> | | |- | [[HP2 (genetic disorder)|HP2]] <br><small>''see'' [[hyperoxaluria, primary]] </small> | | |- | [[HPA]] <br><small>''see'' [[hyperphenylalaninemia]] </small> | | |- | [[HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> | | |- | [[HSAN type III]] <br><small>''see'' [[familial dysautonomia]] </small> | | |- | [[HSAN3]] <br><small>''see'' [[familial dysautonomia]] </small> | | |- | [[HSN-III]] <br><small>''see'' [[familial dysautonomia]] </small> | | |- | [[Human dermatosparaxis]] <br><small>''see'' [[Ehlers-Danlos syndrome#dermatosparaxis type]] </small> | | |- | [[Huntington's disease]] | T | gene IT-15 on chromosome 4 |- | [[progeria|Hutchinson-Gilford progeria syndrome]] | | |- | [[Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency]] <br><small>''see'' [[21-hydroxylase deficiency]] </small> | | |- | [[Hyperchylomicronemia, familial]] <br><small>''see'' [[lipoprotein lipase deficiency, familial]] </small> | | |- | [[hyperglycinemia with ketoacidosis and leukopenia]] <br><small>''see'' [[propionic acidemia]] </small> | | |- | [[Hyperlipoproteinemia type I]] <br><small>''see'' [[lipoprotein lipase deficiency, familial]] </small> | | |- | [[hyperoxaluria, primary]] | | |- | [[hyperphenylalaninaemia]] <br><small>''see'' [[hyperphenylalaninemia]] </small> | | |- | [[hyperphenylalaninemia]] | | |- | [[Hypochondrodysplasia]] <br><small>''see'' [[hypochondroplasia]] </small> | | |- | [[hypochondrogenesis]] | | |- | [[hypochondroplasia]] | | |- | [[Hypochromic anemia]] <br><small>''see'' [[X-linked sideroblastic anemia]] </small> | | |- | [[Hypocupremia, congenital]] <br><small>''see'' [[Menkes syndrome]] </small> | | |- | [[hypoxanthine phosphoribosyltransferse (HPRT) deficiency]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> | | |} == I == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[IAHSP]] <br><small>''see'' [[infantile-onset ascending hereditary spastic paralysis]] </small> | | |- | [[idiopathic hemochromatosis]] <br><small>''see'' [[hemochromatosis, type 3]] </small> | | |- | [[Idiopathic neonatal hemochromatosis]] <br><small>''see'' [[hemochromatosis, neonatal]] </small> | | |- | [[Idiopathic pulmonary hypertension]] <br><small>''see'' [[primary pulmonary hypertension]] </small> | | |- | [[Immune system disorders]] <br><small>''see'' [[X-linked severe combined immunodeficiency]] </small> | | |- | [[Incontinentia Pigmenti]] |P |Xq28 |- | [[Infantile cerebral Gaucher's disease]] <br><small>''see'' [[Gaucher disease type 2]] </small> | | |- | [[Infantile Gaucher disease]] <br><small>''see'' [[Gaucher disease type 2]] </small> | | |- | [[infantile-onset ascending hereditary spastic paralysis]] | | |- | [[Infertility]] | | |- | [[inherited emphysema]] <br><small>''see'' [[alpha-1 antitrypsin deficiency]] </small> | | |- | [[Inherited human transmissible spongiform encephalopathies]] <br><small>''see'' [[prion disease]] </small> | | |- | [[inherited tendency to pressure palsies]] <br><small>''see'' [[hereditary neuropathy with liability to pressure palsies]] </small> | | |- | [[Insley-Astley syndrome]] <br><small>''see'' [[otospondylomegaepiphyseal dysplasia]] </small> | | |- | [[Intermittent acute porphyria syndrome]] <br><small>''see'' [[acute intermittent porphyria]] </small> | | |- | [[Intestinal polyposis-cutaneous pigmentation syndrome]] <br><small>''see'' [[Peutz-Jeghers syndrome]] </small> | | |- | [[incontinentia pigmenti|IP]] <br><small>''see'' [[incontinentia pigmenti]] </small> | | |- | [[Iron storage disorder]] <br><small>''see'' [[hemochromatosis]] </small> | | |- | [[Isodicentric 15]] <br><small>''see'' [[idic15]] </small> | Inv dup | 15q11-14 |- | [[Isolated deafness]] <br><small>''see'' [[nonsyndromic deafness]] </small> | | |} == J == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[Jackson-Weiss syndrome]] | | |- | [[JH]] <br><small>''see'' [[Haemochromatosis#type 2]] </small> | | |- | [[Joubert syndrome]] | | |- | [[JPLS]] <br><small>''see'' [[Juvenile Primary Lateral Sclerosis]] </small> | [[ALS2]] | |- | [[juvenile amyotrophic lateral sclerosis]] <br><small>''see'' [[Amyotrophic lateral sclerosis#type 2]] </small> | | |- | [[Juvenile gout, choreoathetosis, mental retardation syndrome]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> | | |- | [[juvenile hyperuricemia syndrome]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> | | |- | [[JWS]] <br><small>''see'' [[Jackson-Weiss syndrome]] </small> | | |} == K == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[Kennedy disease|KD]] <br><small>''see'' [[X-linked spinal-bulbar muscle atrophy]] </small> | | |- | [[Kennedy disease]] <br><small>''see'' [[X-linked spinal-bulbar muscle atrophy]] </small> | | |- | [[Kennedy disease|Kennedy spinal and bulbar muscular atrophy]] <br><small>''see'' [[X-linked spinal-bulbar muscle atrophy]] </small> | | |- | [[Kerasin histiocytosis]] <br><small>''see'' [[Gaucher disease]] </small> | | |- | [[Kerasin lipoidosis]] <br><small>''see'' [[Gaucher disease]] </small> | | |- | [[Kerasin thesaurismosis]] <br><small>''see'' [[Gaucher disease]] </small> | | |- | [[ketotic glycinemia]] <br><small>''see'' [[propionic acidemia]] </small> | | |- | [[ketotic hyperglycinemia]] <br><small>''see'' [[propionic acidemia]] </small> | | |- | [[Kidney diseases]] <br><small>''see'' [[hyperoxaluria, primary]] </small> | | |- | [[Klinefelter syndrome]] | | |- | [[Klinefelter's syndrome]] <br><small>''see'' [[Klinefelter syndrome]] </small> | | |- | [[Kniest dysplasia]] | | |- | [[Krabbe disease]] | | |} == L == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[Lacunar dementia]] <br><small>''see'' [[CADASIL]] </small> | | |- | [[Langer-Saldino achondrogenesis]] <br><small>''see'' [[achondrogenesis, type II]] </small> | | |- | [[Langer-Saldino dysplasia]] <br><small>''see'' [[achondrogenesis, type II]] </small> | | |- | [[Late-onset Alzheimer disease]] <br><small>''see'' [[Alzheimer disease#type 2]] </small> | | |- | [[Late-onset familial Alzheimer disease (AD2)]] <br><small>''see'' [[Alzheimer disease#type 2]] </small> | | |- | [[late-onset Krabbe disease (LOKD)]] <br><small>''see'' [[Krabbe disease]] </small> | | |- | [[Learning disability|Learning Disorders]] | | |- | [[Lentiginosis, perioral]] <br><small>''see'' [[Peutz-Jeghers syndrome]] </small> | | |- | [[Lesch-Nyhan syndrome]] | | |- | [[Leukodystrophies]] | | |- | [[leukodystrophy with Rosenthal fibers]] <br><small>''see'' [[Alexander disease]] </small> | | |- | [[Leukodystrophy, spongiform]] <br><small>''see'' [[Canavan disease]] </small> | | |- | [[Li-Fraumeni syndrome|LFS]] <br><small>''see'' [[Li-Fraumeni syndrome]] </small> | | |- | [[Li-Fraumeni syndrome]] | | |- | [[Lipase D deficiency]] <br><small>''see'' [[lipoprotein lipase deficiency, familial]] </small> | | |- | [[LIPD deficiency]] <br><small>''see'' [[lipoprotein lipase deficiency, familial]] </small> | | |- | [[Lipidosis, cerebroside]] <br><small>''see'' [[Gaucher disease]] </small> | | |- | [[Lipidosis, ganglioside, infantile]] <br><small>''see'' [[Tay-Sachs disease]] </small> | | |- | [[Lipoid histiocytosis (kerasin type)]] <br><small>''see'' [[Gaucher disease]] </small> | | |- | [[lipoprotein lipase deficiency, familial]] | | |- | [[Liver diseases]] <br><small>''see'' [[galactosemia]] </small> | | |- | [[Lou Gehrig disease]] <br><small>''see'' [[amyotrophic lateral sclerosis]] </small> | | |- | [[Louis-Bar syndrome]] <br><small>''see'' [[ataxia-telangiectasia]] </small> | | |- | [[Lynch syndrome]] <br><small>''see'' [[hereditary nonpolyposis colorectal cancer]] </small> | | |- | [[Lysyl-hydroxylase deficiency]] <br><small>''see'' [[Ehlers-Danlos syndrome#kyphoscoliosis type]] </small> | | |} == M == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[Machado-Joseph disease]] <br><small>''see'' [[Spinocerebellar ataxia]] type 3 </small> | | |- | [[Male breast cancer]] <br><small>''see'' [[breast cancer]] </small> | | |- | [[Male genital disorders]] | | |- | [[Male Turner syndrome]] <br><small>''see'' [[Noonan syndrome]] </small> | | |- | [[Malignant neoplasm of breast]] <br><small>''see'' [[breast cancer]] </small> | | |- | [[malignant tumor of breast]] <br><small>''see'' [[breast cancer]] </small> | | |- | [[Malignant tumor of urinary bladder]] <br><small>''see'' [[bladder cancer]] </small> | | |- | [[Mammary cancer]] <br><small>''see'' [[breast cancer]] </small> | | |- | [[Marfan syndrome]] | |15 |- | [[Marker X syndrome]] <br><small>''see'' [[fragile X syndrome]] </small> | | |- | [[Martin-Bell syndrome]] <br><small>''see'' [[fragile X syndrome]] </small> | | |- | [[McCune-Albright syndrome]] | |20 q13.2-13.3 |- | [[McLeod syndrome]] | |X |- | [[Mediterranean Anemia]] <br><small>''see'' [[beta thalassemia]] </small> | | |- | [[Mediterranean fever, familial]] | | |- | [[Mega-epiphyseal dwarfism]] <br><small>''see'' [[otospondylomegaepiphyseal dysplasia]] </small> | | |- | [[Menkea syndrome]] <br><small>''see'' [[Menkes syndrome]] </small> | | |- | [[Menkes syndrome]] | | |- | [[Mental retardation with osteocartilaginous abnormalities]] <br><small>''see'' [[Coffin-Lowry syndrome]] </small> | | |- | [[Metabolic disorders]] | | |- | [[Metatropic dwarfism, type II]] <br><small>''see'' [[Kniest dysplasia]] </small> | | |- | [[Metatropic dysplasia type II]] <br><small>''see'' [[Kniest dysplasia]] </small> | | |- | [[Methemoglobinemia#beta-globin type]] | | |- | [[methylmalonic acidemia]] | | |- | [[MFS]] <br><small>''see'' [[Marfan syndrome]] </small> | | |- | [[MHAM]] <br><small>''see'' [[Cowden syndrome]] </small> | | |- | [[MK - Menkes syndrome]] <br><small>''see'' [[Menkes syndrome]] </small> | | |- |[[Micro syndrome]] | |2q21.3 |- | [[Microcephaly]] | P | 1q31 ([[ASPM]]) |- | [[Methylmalonic acidemia|MMA]] <br><small>''see'' [[methylmalonic acidemia]] </small> | | |- | [[MNK - Menkes syndrome]] <br><small>''see'' [[Menkes syndrome]] </small> | | |- |Monosomy 1p36 syndrome <br><small>''see'' [[1p36 deletion syndrome]] </small> |D |1p36 |- | [[monosomy X]] <br><small>''see'' [[Turner syndrome]] </small> | | |- | [[Motor neuron disease, amyotrophic lateral sclerosis]] <br><small>''see'' [[amyotrophic lateral sclerosis]] </small> | | |- | [[Movement disorders]] | | |- | [[Mowat-Wilson syndrome]] | | |- | [[Mucoviscidosis]] <br><small>''see'' [[cystic fibrosis]] </small> | | |- | [[Muenke syndrome]] | | |- | [[Multi-Infarct dementia]] <br><small>''see'' [[CADASIL]] </small> | | |- | [[Multiple carboxylase deficiency, late-onset]] <br><small>''see'' [[biotinidase deficiency]] </small> | | |- | [[Multiple hamartoma syndrome]] <br><small>''see'' [[Cowden syndrome]] </small> | | |- | [[Multiple neurofibromatosis]] <br><small>''see'' [[neurofibromatosis]] </small> | | |- | [[Muscular dystrophy]] | | |- | [[Muscular dystrophy, Duchenne and Becker type]] | | |- | [[Myotonia atrophica]] <br><small>''see'' [[myotonic dystrophy]] </small> | | |- | [[Myotonia dystrophica]] <br><small>''see'' [[myotonic dystrophy]] </small> | | |- | [[myotonic dystrophy]] | | |- | [[Myxedema, congenital]] <br><small>''see'' [[congenital hypothyroidism]] </small> | | |} == N == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[Nance-Insley syndrome]] <br><small>''see'' [[otospondylomegaepiphyseal dysplasia]] </small> | | |- | [[Nance-Sweeney chondrodysplasia]] <br><small>''see'' [[otospondylomegaepiphyseal dysplasia]] </small> | | |- | [[NBIA1]] <br><small>''see'' [[pantothenate kinase-associated neurodegeneration]] </small> | | |- | [[Neill-Dingwall syndrome]] <br><small>''see'' [[Cockayne syndrome]] </small> | | |- | [[Neuroblastoma, retinal]] <br><small>''see'' [[retinoblastoma]] </small> | | |- | [[Neurodegeneration with brain iron accumulation type 1]] <br><small>''see'' [[pantothenate kinase-associated neurodegeneration]] </small> | | |- | [[Neurofibromatosis type I]] | |17q11.2 |- | [[Neurofibromatosis type II]] | | |- | [[Neurologic diseases]] | | |- | [[Neuromuscular disorders]] | | |- | [[neuronopathy, distal hereditary motor, type V]] <br><small>''see'' [[Distal spinal muscular atrophy#type V]] </small> | | |- | [[neuronopathy, distal hereditary motor, with pyramidal features]] <br><small>''see'' [[Amyotrophic lateral sclerosis#type 4]] </small> | | |- | [[NF]] <br><small>''see'' [[neurofibromatosis|Neurofibromatosis types I & II]] </small> | | |- | [[Niemann-Pick]] <br><small>''see'' [[Niemann-Pick disease]] </small> | [[NPA, NPB, NPC1, NPC2, SMPD1]] | |- | [[Noack syndrome]] <br><small>''see'' [[Pfeiffer syndrome]] </small> | | |- | [[Nonketotic hyperglycinemia]] <br><small>''see'' [[Glycine encephalopathy]] </small> | | |- | [[Non-neuronopathic Gaucher disease]] <br><small>''see'' [[Gaucher disease type 1]] </small> | | |- | [[Non-phenylketonuric hyperphenylalaninemia]] <br><small>''see'' [[tetrahydrobiopterin deficiency]] </small> | | |- | [[nonsyndromic deafness]] | | |- | [[Noonan syndrome]] | | |- | [[Norrbottnian Gaucher disease]] <br><small>''see'' [[Gaucher disease type 3]] </small> | | |} == O == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[Ochronosis]] <br><small>''see'' [[alkaptonuria]] </small> | | |- | [[Ochronotic arthritis]] <br><small>''see'' [[alkaptonuria]] </small> | | |- | [[OI]] <br><small>''see'' [[osteogenesis imperfecta]] </small> | | |- | [[OSMED]] <br><small>''see'' [[otospondylomegaepiphyseal dysplasia]] </small> | | |- | [[osteogenesis imperfecta]] | | |- | [[Osteopsathyrosis]] <br><small>''see'' [[osteogenesis imperfecta]] </small> | | |- | [[Osteosclerosis congenita]] <br><small>''see'' [[achondroplasia]] </small> | | |- | [[Oto-spondylo-megaepiphyseal dysplasia]] <br><small>''see'' [[otospondylomegaepiphyseal dysplasia]] </small> | | |- | [[otospondylomegaepiphyseal dysplasia]] | | |- | [[Oxalosis]] <br><small>''see'' [[hyperoxaluria, primary]] </small> | | |- | [[Oxaluria, primary]] <br><small>''see'' [[hyperoxaluria, primary]] </small> | | |} == P == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[pantothenate kinase-associated neurodegeneration]] | | |- | [[Patau Syndrome|Patau Syndrome (Trisomy 13)]] | | |- | [[PBGD deficiency]] <br><small>''see'' [[acute intermittent porphyria]] </small> | | |- | [[PCC deficiency]] <br><small>''see'' [[propionic acidemia]] </small> | | |- | [[PCT]] <br><small>''see'' [[porphyria cutanea tarda]] </small> | | |- | [[PDM]] <br><small>''see'' [[Myotonic dystrophy#type 2]] </small> | | |- | [[Pendred syndrome]] | | |- | [[Periodic disease]] <br><small>''see'' [[Mediterranean fever, familial]] </small> | | |- | [[Periodic peritonitis]] <br><small>''see'' [[Mediterranean fever, familial]] </small> | | |- | [[Periorificial lentiginosis syndrome]] <br><small>''see'' [[Peutz-Jeghers syndrome]] </small> | | |- | [[Peripheral nerve disorders]] <br><small>''see'' [[familial dysautonomia]] </small> | | |- | [[Peripheral neurofibromatosis]] <br><small>''see'' [[neurofibromatosis 1]] </small> | | |- | [[Peroneal muscular atrophy]] <br><small>''see'' [[Charcot-Marie-Tooth disease]] </small> | | |- | [[peroxisomal alanine:glyoxylate aminotransferase deficiency]] <br><small>''see'' [[hyperoxaluria, primary]] </small> | | |- | [[Peutz-Jeghers syndrome]] | | |- | [[Pfeiffer syndrome]] | | |- | [[Phenylalanine hydroxylase deficiency disease]] <br><small>''see'' [[phenylketonuria]] </small> | | |- | [[phenylketonuria]] | | |- | [[Pheochromocytoma]] <br><small>''see'' [[von Hippel-Lindau disease]] </small> | | |- | [[Pierre Robin syndrome with fetal chondrodysplasia]] <br><small>''see'' [[Weissenbacher-Zweymüller syndrome]] </small> | | |- | [[Pigmentary cirrhosis]] <br><small>''see'' [[hemochromatosis]] </small> | | |- | [[PJS]] <br><small>''see'' [[Peutz-Jeghers syndrome]] </small> | | |- | [[PKAN]] <br><small>''see'' [[pantothenate kinase-associated neurodegeneration]] </small> | | |- | [[PKU]] <br><small>''see'' [[phenylketonuria]] </small> | | |- | [[Plumboporphyria]] <br><small>''see'' [[ALA deficiency porphyria]] </small> | | |- | [[PMA]] <br><small>''see'' [[Charcot-Marie-tooth disease]] </small> | | |- | [[polyostotic fibrous dysplasia]]<br><small>''see'' [[McCune-Albright syndrome]]</small> | |20 q13.2-13.3 |- | [[polyposis coli]] <br><small>''see'' [[familial adenomatous polyposis]] </small> | | |- | [[polyposis, hamartomatous intestinal]] <br><small>''see'' [[Peutz-Jeghers syndrome]] </small> | | |- | [[polyposis, intestinal, II]] <br><small>''see'' [[Peutz-Jeghers syndrome]] </small> | | |- | [[polyps-and-spots syndrome]] <br><small>''see'' [[Peutz-Jeghers syndrome]] </small> | | |- | [[Porphobilinogen synthase deficiency]] <br><small>''see'' [[ALA deficiency porphyria]] </small> | | |- | [[porphyria]] | | |- | [[porphyrin disorder]] <br><small>''see'' [[porphyria]] </small> | | |- | [[PPH]] <br><small>''see'' [[primary pulmonary hypertension]] </small> | | |- | [[PPOX deficiency]] <br><small>''see'' [[variegate porphyria]] </small> | | |- | [[Prader-Labhart-Willi syndrome]] <br><small>''see'' [[Prader-Willi syndrome]] </small> | | |- | [[Prader-Willi syndrome]] | | |- | [[presenile and senile dementia]] <br><small>''see'' [[Alzheimer disease]] </small> | | |- | [[primary hemochromatosis]] <br><small>''see'' [[hemochromatosis]] </small> | | |- | [[primary hyperuricemia syndrome]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> | | |- | [[primary pulmonary hypertension]] | | |- | [[primary senile degenerative dementia]] <br><small>''see'' [[Alzheimer disease]] </small> | | |- | [[prion disease]] | | |- | [[procollagen type EDS VII, mutant]] <br><small>''see'' [[Ehlers-Danlos syndrome#arthrochalasia type]] </small> | | |- | [[progeria]] <br><small>''see'' [[Hutchinson Gilford progeria syndrome]] </small> | | |- | [[Progeria-like syndrome]] <br><small>''see'' [[Cockayne syndrome]] </small> | | |- | [[progeroid nanism]] <br><small>''see'' [[Cockayne syndrome]] </small> | | |- | [[progressive chorea, chronic hereditary (Huntington)]] <br><small>''see'' [[Huntington's disease]] </small> | | |- | [[progressive muscular atrophy]] <br><small>''see'' [[spinal muscular atrophy]] </small> | | |- | [[progressively deforming osteogenesis imperfecta with normal sclerae]] <br><small>''see'' [[Osteogenesis imperfecta#type III]] </small> | | |- | [[PROMM]] <br><small>''see'' [[Myotonic dystrophy#type 2]] </small> | | |- | [[propionic acidemia]] | | |- | [[propionyl-CoA carboxylase deficiency]] <br><small>''see'' [[propionic acidemia]] </small> | | |- | [[protein C deficiency]] | | |- | [[protein S deficiency]] | | |- | [[protoporphyria]] <br><small>''see'' [[erythropoietic protoporphyria]] </small> | | |- | [[protoporphyrinogen oxidase deficiency]] <br><small>''see'' [[variegate porphyria]] </small> | | |- | [[proximal myotonic dystrophy]] <br><small>''see'' [[Myotonic dystrophy#type 2]] </small> | | |- | [[proximal myotonic myopathy]] <br><small>''see'' [[Myotonic dystrophy#type 2]] </small> | | |- | [[pseudo-Gaucher disease]] | | |- | [[pseudo-Ullrich-Turner syndrome]] <br><small>''see'' [[Noonan syndrome]] </small> | | |- | [[pseudoxanthoma elasticum]] | | |- | [[psychosine lipidosis]] <br><small>''see'' [[Krabbe disease]] </small> | | |- | [[pulmonary arterial hypertension]] <br><small>''see'' [[primary pulmonary hypertension]] </small> | | |- | [[pulmonary hypertension]] <br><small>''see'' [[primary pulmonary hypertension]] </small> | | |- | [[PWS]] <br><small>''see'' [[Prader-Willi syndrome]] </small> | | |- | [[PXE - pseudoxanthoma elasticum]] <br><small>''see'' [[pseudoxanthoma elasticum]] </small> | | |} == R == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[Rb]] <br><small>''see'' [[retinoblastoma]] </small> | | |- | [[Recklinghausen disease, nerve]] <br><small>''see'' [[neurofibromatosis 1]] </small> | | |- | [[Recurrent polyserositis]] <br><small>''see'' [[Mediterranean fever, familial]] </small> | | |- | [[Retinal disorders]] | | |- | [[Retinitis pigmentosa-deafness syndrome]] <br><small>''see'' [[Usher syndrome]] </small> | | |- | [[Retinoblastoma]] | | |- | [[Rett syndrome]] | | |- | [[RFALS type 3]] <br><small>''see'' [[Amyotrophic lateral sclerosis#type 2]] </small> | | |- | [[Ricker syndrome]] <br><small>''see'' [[Myotonic dystrophy#type 2]] </small> | | |- | [[Riley-Day syndrome]] <br><small>''see'' [[familial dysautonomia]] </small> | | |- | [[Roussy-Levy syndrome]] <br><small>''see'' [[Charcot-Marie-Tooth disease]] </small> | | |- | [[RSTS]] <br><small>''see'' [[Rubinstein-Taybi syndrome]] </small> | | |- | [[RTS]] <br><small>''see'' [[Rett syndrome]] <br><small>''see'' [[Rubinstein-Taybi syndrome]] </small> | | |- | [[RTT]] <br><small>''see'' [[Rett syndrome]] </small> | | |- | [[Rubinstein-Taybi syndrome]] | | |} == S == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[Sack-Barabas syndrome]] <br><small>''see'' [[Ehlers-Danlos syndrome, vascular type]] </small> | | |- | [[SADDAN]] | | |- | [[sarcoma family syndrome of Li and Fraumeni]] <br><small>''see'' [[Li-Fraumeni syndrome]] </small> | | |- | [[sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome]] <br><small>''see'' [[Li-Fraumeni syndrome]] </small> | | |- | [[SBLA syndrome]] <br><small>''see'' [[Li-Fraumeni syndrome]] </small> | | |- | [[SBMA]] <br><small>''see'' [[X-linked spinal-bulbar muscle atrophy]] </small> | | |- | [[SCD]] <br><small>''see'' [[sickle cell anemia]] </small> | | |- | [[Schwannoma, acoustic, bilateral]] <br><small>''see'' [[neurofibromatosis 2]] </small> | | |- | [[X-SCID|SCIDX1]] <br><small>''see'' [[X-linked severe combined immunodeficiency]] </small> | | |- | [[sclerosis tuberosa]] <br><small>''see'' [[tuberous sclerosis]] </small> | | |- | [[SDAT]] <br><small>''see'' [[Alzheimer disease]] </small> | | |- | [[SED congenita]] <br><small>''see'' [[spondyloepiphyseal dysplasia congenita]] </small> | | |- | [[SED Strudwick]] <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small> | | |- | [[SEDc]] <br><small>''see'' [[spondyloepiphyseal dysplasia congenita]] </small> | | |- | [[SEMD, Strudwick type]] <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small> | | |- | [[senile dementia]] <br><small>''see'' [[Alzheimer disease#type 2]] </small> | | |- | [[severe achondroplasia with developmental delay and acanthosis nigricans]] <br><small>''see'' [[SADDAN]] </small> | | |- | [[Shprintzen syndrome]] <br><small>''see'' [[22q11.2 deletion syndrome]] </small> | D | 22q |- | [[sickle cell anemia]] | | |- | [[skeleton-skin-brain syndrome]] <br><small>''see'' [[SADDAN]] </small> | | |- | [[Skin pigmentation disorders]] | | |- | [[SMA]] <br><small>''see'' [[spinal muscular atrophy]] </small> | | |- | [[SMED, Strudwick type]] <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small> | | |- | [[SMED, type I]] <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small> | | |- | [[South-African genetic porphyria]] <br><small>''see'' [[variegate porphyria]] </small> | | |- | [[spastic paralysis, infantile onset ascending]] <br><small>''see'' [[infantile-onset ascending hereditary spastic paralysis]] </small> | | |- | [[Speech and communication disorders]] | | |- | [[sphingolipidosis, Tay-Sachs]] <br><small>''see'' [[Tay-Sachs disease]] </small> | | |- | [[spinal-bulbar muscular atrophy]] | | |- | [[spinal muscular atrophy]] | | |- | [[spinal muscular atrophy, distal type V]] <br><small>''see'' [[Distal spinal muscular atrophy#type V]] </small> | | |- | [[spinal muscular atrophy, distal, with upper limb predominance]] <br><small>''see'' [[Distal spinal muscular atrophy#type V]] </small> | | |- | [[spinocerebellar ataxia]] | | |- | [[spondyloepimetaphyseal dysplasia, Strudwick type]] | | |- | [[spondyloepiphyseal dysplasia congenita]] | | |- | [[spondyloepiphyseal dysplasia]] <br><small>''see'' [[collagenopathy, types II and XI]] </small> | | |- | [[spondylometaepiphyseal dysplasia congenita, Strudwick type]] <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small> | | |- | [[spondylometaphyseal dysplasia (SMD)]] <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small> | | |- | [[spondylometaphyseal dysplasia, Strudwick type]] <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small> | | |- | [[spongy degeneration of central nervous system]] <br><small>''see'' [[Canavan disease]] </small> | | |- | [[spongy degeneration of the brain]] <br><small>''see'' [[Canavan disease]] </small> | | |- | [[spongy degeneration of white matter in infancy]] <br><small>''see'' [[Canavan disease]] </small> | | |- | [[sporadic primary pulmonary hypertension]] <br><small>''see'' [[primary pulmonary hypertension]] </small> | | |- | [[SSB syndrome]] <br><small>''see'' [[SADDAN]] </small> | | |- | [[steely hair syndrome]] <br><small>''see'' [[Menkes syndrome]] </small> | | |- | [[Steinert disease]] <br><small>''see'' [[myotonic dystrophy]] </small> | | |- | [[Steinert myotonic dystrophy syndrome]] <br><small>''see'' [[myotonic dystrophy]] </small> | | |- | [[Stickler syndrome]] | | |- | [[stroke]] <br><small>''see'' [[CADASIL]] </small> | | |- | [[Strudwick syndrome]] <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small> | | |- | [[subacute neuronopathic Gaucher disease]] <br><small>''see'' [[Gaucher disease type 3]] </small> | | |- | [[Swedish genetic porphyria]] <br><small>''see'' [[acute intermittent porphyria]] </small> | | |- | [[Swedish porphyria]] <br><small>''see'' [[acute intermittent porphyria]] </small> | | |- | [[Swiss cheese cartilage dysplasia]] <br><small>''see'' [[Kniest dysplasia]] </small> | | |} == T == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[Tay-Sachs disease]] | | |- | [[TD - thanatophoric dwarfism]] <br><small>''see'' [[thanatophoric dysplasia]] </small> | | |- | [[TD with straight femurs and cloverleaf skull]] <br><small>''see'' [[thanatophoric dysplasia#Type 2]] </small> | | |- | [[Telangiectasia, cerebello-oculocutaneous]] <br><small>''see'' [[ataxia-telangiectasia]] </small> | | |- | Testicular feminization syndrome <br><small>''see'' [[androgen insensitivity syndrome]] </small> | | |- | [[tetrahydrobiopterin deficiency]] | | |- | TFM - testicular feminization syndrome <br><small>''see'' [[androgen insensitivity syndrome]] </small> | | |- | [[thalassemia intermedia]] <br><small>''see'' [[beta thalassemia]] </small> | | |- | [[Thalassemia Major]] <br><small>''see'' [[beta thalassemia]] </small> | | |- | [[thanatophoric dysplasia]] | | |- | [[thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness]] | | |- | [[Thrombophilia due to deficiency of cofactor for activated protein C, Leiden type]] <br><small>''see'' [[factor V Leiden thrombophilia]] </small> | | |- | [[Thyroid disease]] | | |- | [[Tomaculous neuropathy]] <br><small>''see'' [[hereditary neuropathy with liability to pressure palsies]] </small> | | |- | [[Total HPRT deficiency]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> | | |- | [[Total hypoxanthine-guanine phosphoribosyl transferase deficiency]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> Tourette's Syndrome | | |- | [[Transmissible dementias]] <br><small>''see'' [[prion disease]] </small> | | |- | [[Transmissible spongiform encephalopathies]] <br><small>''see'' [[prion disease]] </small> | | |- |[[Treacher Collins syndrome]] | |5q32-q33.1 |- | [[Trias fragilitis ossium]] <br><small>''see'' [[osteogenesis imperfecta#Type I]] </small> | | |- | [[triple X syndrome]] | | |- | [[Triplo X syndrome]] <br><small>''see'' [[triple X syndrome]] </small> | | |- | [[Trisomy 21]] <br><small>''see'' [[Down syndrome]] </small> | | |- | [[Trisomy X]] <br><small>''see'' [[triple X syndrome]] </small> | | |- | [[Troisier-Hanot-Chauffard syndrome]] <br><small>''see'' [[hemochromatosis]] </small> | | |- | TS <br><small>''see'' [[Turner syndrome]] </small> | | |- | TSD <br><small>''see'' [[Tay-Sachs disease]] </small> | | |- | [[TSEs]] <br><small>''see'' [[prion disease]] </small> | | |- | [[tuberose sclerosis]] <br><small>''see'' [[tuberous sclerosis]] </small> | | |- | [[tuberous sclerosis]] | | |- | [[Turner syndrome]] | | |- | [[Turner syndrome in female with X chromosome]] <br><small>''see'' [[Noonan syndrome]] </small> | | |- | [[Turner's phenotype, karyotype normal]] <br><small>''see'' [[Noonan syndrome]] </small> | | |- | [[Turner's syndrome]] <br><small>''see'' [[Turner syndrome]] </small> | | |- | [[Turner-like syndrome]] <br><small>''see'' [[Noonan syndrome]] </small> | | |- | [[Type 2 Gaucher disease]] <br><small>''see'' [[Gaucher disease type 2]] </small> | | |- | [[Type 3 Gaucher disease]] <br><small>''see'' [[Gaucher disease type 3]] </small> | | |} == U == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[UDP-galactose-4-epimerase deficiency disease]] <br><small>''see'' [[galactosemia]] </small> | | |- | [[UDP glucose 4-epimerase deficiency disease]] <br><small>''see'' [[galactosemia]] </small> | | |- | [[UDP glucose hexose-1-phosphate uridylyltransferase deficiency]] <br><small>''see'' [[galactosemia]] </small> | | |- | [[Ullrich-Noonan syndrome]] <br><small>''see'' [[Noonan syndrome]] </small> | | |- | [[Ullrich-Turner syndrome]] <br><small>''see'' [[Turner syndrome]] </small> | | |- | [[Undifferentiated deafness]] <br><small>''see'' [[nonsyndromic deafness]] </small> | | |- | [[UPS deficiency]] <br><small>''see'' [[acute intermittent porphyria]] </small> | | |- | [[Urinary bladder cancer]] <br><small>''see'' [[bladder cancer]] </small> | | |- | [[UROD deficiency]] <br><small>''see'' [[porphyria cutanea tarda]] </small> | | |- | [[Uroporphyrinogen decarboxylase deficiency]] <br><small>''see'' [[porphyria cutanea tarda]] </small> | | |- | [[Uroporphyrinogen synthase deficiency]] <br><small>''see'' [[acute intermittent porphyria]] </small> | | |- | [[UROS deficiency]] <br><small>''see'' [[congenital erythropoietic porphyria]] </small> | | |- | [[Usher syndrome]] | | |- | [[UTP hexose-1-phosphate uridylyltransferase deficiency]] <br><small>''see'' [[galactosemia]] </small> | | |} == V == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[Van Bogaert-Bertrand syndrome]] <br><small>''see'' [[Canavan disease]] </small> | | |- | [[Van der Hoeve syndrome]] <br><small>''see'' [[osteogenesis imperfecta#Type I]] </small> | | |- | [[variegate porphyria]] | | |- | [[Velocardiofacial syndrome]] <br><small>''see'' [[22q11.2 deletion syndrome]] </small> | D | 22q |- | [[VHL syndrome]] <br><small>''see'' [[von Hippel-Lindau disease]] </small> | | |- | [[Vision impairment and blindness]] <br><small>''see'' [[Alstrom syndrome]] </small> | | |- | [[Von Bogaert-Bertrand disease]] <br><small>''see'' [[Canavan disease]] </small> | | |- | [[von Hippel-Lindau disease]] | | |- | [[Von Recklenhausen-Applebaum disease]] <br><small>''see'' [[hemochromatosis]] </small> | | |- | [[von Recklinghausen disease]] <br><small>''see'' [[neurofibromatosis 1]] </small> | | |- | VP <br><small>''see'' [[variegate porphyria]] </small> | | |- | [[Vrolik disease]] <br><small>''see'' [[osteogenesis imperfecta]] </small> | | |} == W == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[Waardenburg syndrome]] | | |- |Warburg Sjo Fledelius Syndrome <br><small>''see'' [[Micro syndrome]] </small> | |2q21.3 |- | [[WD - Wilson's disease]] <br><small>''see'' [[Wilson disease]] </small> | | |- | [[Weissenbacher-Zweymüller syndrome]] | | |- | [[Wilson disease]] | | |- | [[Wilson's disease]] <br><small>''see'' [[Wilson disease]] </small> | | |- | [[Wolff Periodic disease]] <br><small>''see'' [[Mediterranean fever, familial]] </small> | | |- | [[WZS]] <br><small>''see'' [[Weissenbacher-Zweymüller syndrome]] </small> | | |} == X == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[Xeroderma Pigmentosum]] |ERCC4 |15 |- | [[X-linked mental retardation and macroorchidism]] <br><small>''see'' [[fragile X syndrome]] </small> | | |- | [[X-linked primary hyperuricemia]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> | | |- | [[X-linked severe combined immunodeficiency]] | | |- | [[X-linked sideroblastic anemia]] | | |- | [[X-linked spinal-bulbar muscle atrophy]] <br><small>''see'' [[Kennedy disease]] </small> | | |- | [[X-linked uric aciduria enzyme defect]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> | | |- | [[X-SCID]] <br><small>''see'' [[X-linked severe combined immunodeficiency]] </small> | | |- | [[XLSA]] <br><small>''see'' [[X-linked sideroblastic anemia]] </small> | | |- | [[XSCID]] <br><small>''see'' [[X-linked severe combined immunodeficiency]] </small> | | |- | [[XXX syndrome]] <br><small>''see'' [[triple X syndrome]] </small> | | |- | [[XXXX syndrome]] <br> | | |- | [[XXY syndrome]] <br><small>''see'' [[Klinefelter syndrome]] </small> | | |- | [[XXY trisomy]] <br><small>''see'' [[Klinefelter syndrome]] </small> | | |- | [[XYY karyotype]] <br><small>''see'' [[47,XYY syndrome]] </small> | | |- | [[XYY syndrome]] <br><small>''see'' [[47,XYY syndrome]] </small> | | |} == Y == {| border="border" cellpadding=3 style="border-collapse:collapse" |- bgcolor="#cccccc" ! Disorder ! Mutation ! Chromosome |- | [[YY syndrome]] <br><small>''see'' [[47,XYY syndrome]] </small> | | |} [[Category:Lists of diseases|Genetic disorders]] [[Category:genetic disorders|*]] [[es:Lista de enfermedades genéticas]] [[fr:Liste des maladies génétiques à gène identifié]] [[hu:Genetikai betegségek listája]] [[nl:Lijst van erfelijke aandoeningen]] [[ja:遺伝子疾患の一覧]] [[ru:Список наследственных заболеваний]]