Galloway Mowat syndrome 4293651 191604512 2008-02-15T07:55:31Z Rcej 1612789 added image, 3 categories {{Infobox_Disease | Name = {{PAGENAME}} | Image = | Caption = | DiseasesDB = 31334 | ICD10 = | ICD9 = | ICDO = | OMIM = 251300 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | }} '''Galloway Mowat syndrome''' is a very rare [[autosomal]] [[recessive]] genetic disorder, consisting of a variety of features including [[hiatal hernia]], [[microcephaly]] and [[nephrotic syndrome]]. ==Synonyms== * Galloway Syndrome * Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type * Microcephaly-Hiatal Hernia-Nephrosis, Galloway Type * Nephrosis-Microcephaly Syndrome * Nephrosis-Neuronal Dysmigration Syndrome * Microcephaly-Hiatal Hernia-Nephrotic Syndrome ==Pathogenesis== [[Image:autorecessive.jpg|thumb|right|{{PAGENAME}} has an [[autosomal recessive]] pattern of inheritance.]] The exact genetic defect in Galloway Mowat syndrome is yet to be discovered. However, mutations in [[podocyte]] proteins, such as [[nephrin]], [[alpha-actinin 4]], and [[podocin]], are associated with proteinuria and nephrotic syndrome. There is reduced expression of [[synaptopodin]], [[GLEPP1]], and [[nephrin]] in Galloway-Mowat syndrome, but these are likely secondary to the proteinuria, likely not the proteins mutated in Galloway-Mowat syndrome.<ref>http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11793093&dopt=Abstract <br> ''Pediatric Nephrology'' article</ref> ==External links== *[http://webcenter.health.webmd.netscape.com/hw/health_guide_atoz/nord1042.asp WebMD article] ==References== {{Reflist}} {{Genetic-disorder-stub}} [[Category:Genetic disorders]] [[Category:Autosomal recessive disorders]] [[Category:Syndromes]] [[Category:Rare diseases]] [[Category:Kidney diseases]] [[Category:Neurological disorders]] [[fi:Galloway-Mowatin oireyhtymä]]