H01187 | |
H number | H01187 |
Name | Tietz syndrome; Albinism-deafness syndrome |
Description | Tietz syndrome is an autosomal dominant syndrome of hypopigmentation and deafness. A missense mutation has been found in the basic region of the MITF (microphthalmia associated transcription factor) gene. Mutations in other regions of this gene have been found to produce Waardenburg syndrome type 2 (WS2) [DS:H00169], which also includes pigmentary changes and hearing loss, but in contrast to Tietz syndrome, depigmentation is patchy and hearing loss is variable in WS2. |
Category | Skin disease |
Network | - |
Gene | MITF [HSA:4286] [KO:K09455] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: EC23.2Y MeSH: C536919 OMIM: 103500 |
Reference | PMID:16228000 AUTHORS Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA, Moeller LC, Boran G, Schomburg L, Weiss RE, Refetoff S TITLE Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. JOURNAL Nat Genet 37:1247-52 (2005) DOI:10.1038/ng1654 PMID:19769464 AUTHORS Dumitrescu AM, Di Cosmo C, Liao XH, Weiss RE, Refetoff S TITLE The syndrome of inherited partial SBP2 deficiency in humans. JOURNAL Antioxid Redox Signal 12:905-20 (2010) DOI:10.1089/ars.2009.2892 PMID:10851256 AUTHORS Smith SD, Kelley PM, Kenyon JB, Hoover D TITLE Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. JOURNAL J Med Genet 37:446-8 (2000) DOI:10.1136/jmg.37.6.446 PMID:9546825 AUTHORS 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 7:17-20 (1998) |