| H01187 | |
| H番号 | H01187 |
| 名称 | Tietz 症候群; 白皮症・難聴症候群 |
| 概要 | 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. |
| カテゴリ | 皮膚疾患 |
| ネットワーク | - |
| 病因遺伝子 | MITF [HSA:4286] [KO:K09455] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: EC23.2Y MeSH: C536919 OMIM: 103500 |
| 文献 | PMID:16228000 著者 Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA, Moeller LC, Boran G, Schomburg L, Weiss RE, Refetoff S タイトル Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. 雑誌 Nat Genet 37:1247-52 (2005) DOI:10.1038/ng1654 PMID:19769464 著者 Dumitrescu AM, Di Cosmo C, Liao XH, Weiss RE, Refetoff S タイトル The syndrome of inherited partial SBP2 deficiency in humans. 雑誌 Antioxid Redox Signal 12:905-20 (2010) DOI:10.1089/ars.2009.2892 PMID:10851256 著者 Smith SD, Kelley PM, Kenyon JB, Hoover D タイトル Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. 雑誌 J Med Genet 37:446-8 (2000) DOI:10.1136/jmg.37.6.446 PMID:9546825 著者 Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM タイトル Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). 雑誌 Clin Dysmorphol 7:17-20 (1998) |