Tietz syndrome
<templatestyles src="Module:Hatnote/styles.css"></templatestyles>
| 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
<templatestyles src="Reflist/styles.css" />
Cite error: Invalid <references> tag; parameter "group" is allowed only.
<references />, or <references group="..." />External links
- Tietz syndrome; Albinism and complete nerve deafness at NIH's Office of Rare Diseases
<templatestyles src="Asbox/styles.css"></templatestyles>
 |
This genetic disorder article is a stub. You can help Wikipedia by expanding it. |
- ↑ 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.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ 4.0 4.1 Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 156845
