Tietz syndrome
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| Tietz syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-10 | E70.3 (ILDS E70.358) |
| OMIM | 103500 |
| DiseasesDB | 34108 |
| Patient UK | Tietz syndrome |
Tietz syndrome, also called Tietz albinism-deafness syndrome or albinism and deafness of Tietz,[1] is an autosomal dominant[2] congenital disorder characterized by deafness and leucism.[3] It is caused by a mutation in the microphthalmia-associated transcription factor (MITF) gene.[2][4] Tietz syndrome was first described in 1923.[5]
Cause and Genetics
Tietz syndrome is caused by mutations in the MITF gene, located on human chromosome 3p14.1-p12.3.[2][4][6] It is inherited in an autosomal dominant manner.[2] This indicates that the defective gene responsible for a disorder is located on an autosome (chromosome 3 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
See also
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 103500
- ↑ 2.0 2.1 2.2 2.3 Lua error in package.lua at line 80: module 'strict' not found.
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- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 156845
External links
- Tietz syndrome; Albinism and complete nerve deafness at NIH's Office of Rare Diseases
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