Tietz syndrome
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2008-06-03T00:09:04Z
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{{Infobox_Disease |
Name = {{PAGENAME}} |
Image = |
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DiseasesDB = 34108 |
ICD10 = {{ICD10|E|70|3|e|70}}<BR>([[ILDS]] E70.358) |
ICD9 = |
ICDO = |
OMIM = 103500 |
MedlinePlus = |
eMedicineSubj = |
eMedicineTopic = |
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'''Tietz syndrome''' is a condition characterized by [[deafness]] and [[albinism]]. (Tietz syndrome is not to be confused with [[Tietze's syndrome]], which is a benign [[inflammation]] of the [[cartilage]]s connecting to the [[sternum]] or [[rib]]s.)
It was characterized in 1963.<ref name="pmid13985019">{{cite journal |author=Tietz W |title=A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance |journal=Am. J. Hum. Genet. |volume=15 |issue= |pages=259–64 |year=1963 |month=September |pmid=13985019 |doi= |url=}}</ref>
==Causes==
It is due to a mutation in [[chromosome 3]], in the [[microphthalmia-associated transcription factor]].<ref name="pmid9546825">{{cite journal |author=Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM |title=Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome) |journal=Clin. Dysmorphol. |volume=7 |issue=1 |pages=17–20 |year=1998 |month=January |pmid=9546825 |doi= |url=}}</ref><ref name="pmid10851256">{{cite journal |author=Smith SD, Kelley PM, Kenyon JB, Hoover D |title=Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF |journal=J. Med. Genet. |volume=37 |issue=6 |pages=446–8 |year=2000 |month=June |pmid=10851256 |doi= |url=http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=10851256}}</ref>
==References==
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[[pl:Zespół Tietza]]
[[Category:Genetic disorder stubs]]