| H00759 | |
| H番号 | H00759 |
| 名称 | ワールデンブルグ症候群 |
| 概要 | Waardenburg syndrome (WS) is a rare autosomal dominant inherited disorder characterized by sensorineural hearing loss and pigment disturbances of the hair, skin, and iris. Four subtypes of WS have been classified based on the presence or absence of additional symptoms. WS 1 and WS 2 are distinguished by the presence or absence of dystopia canthorum, respectively. WS 3 is similar to WS 1 with additional musculoskeletal abnormalities. WS 4 is characterized by the presence of an aganglionic megacolon. WS is associated with six genes of melanocytic differentiation: PAX3, MITF, SNAI2, SOX10, EDNRB, and EDN3. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | (WS1/3) PAX3 [HSA:5077] [KO:K09381] (WS2A) MITF [HSA:4286] [KO:K09455] (WS2D) SNAI2 [HSA:6591] [KO:K05706] (WS2E/4C) SOX10 [HSA:6663] [KO:K09270] (WS4A) EDNRB [HSA:1910] [KO:K04198] (WS4B) EDN3 [HSA:1908] [KO:K05227] |
| 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 ICD-10: E70.3 MeSH: D014849 OMIM: 193500 193510 608890 611584 148820 277580 613265 613266 609136 |
| 文献 | PMID:20127975 著者 Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N タイトル Review and update of mutations causing Waardenburg syndrome. 雑誌 Hum Mutat 31:391-406 (2010) DOI:10.1002/humu.21211 PMID:21856949 著者 Nissan X, Larribere L, Saidani M, Hurbain I, Delevoye C, Feteira J, Lemaitre G, Peschanski M, Baldeschi C タイトル Functional melanocytes derived from human pluripotent stem cells engraft into pluristratified epidermis. 雑誌 Proc Natl Acad Sci U S A 108:14861-6 (2011) DOI:10.1073/pnas.1019070108 PMID:8447316 (PAX3) 著者 Hoth CF, Milunsky A, Lipsky N, Sheffer R, Clarren SK, Baldwin CT タイトル Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). 雑誌 Am J Hum Genet 52:455-62 (1993) PMID:7874167 (MITF) 著者 Tassabehji M, Newton VE, Read AP タイトル Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. 雑誌 Nat Genet 8:251-5 (1994) DOI:10.1038/ng1194-251 PMID:12444107 (SNAI2) 著者 Sanchez-Martin M, Rodriguez-Garcia A, Perez-Losada J, Sagrera A, Read AP, Sanchez-Garcia I タイトル SLUG (SNAI2) deletions in patients with Waardenburg disease. 雑誌 Hum Mol Genet 11:3231-6 (2002) DOI:10.1093/hmg/11.25.3231 PMID:9462749 (SOX10, WS4C) 著者 Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Prehu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M タイトル SOX10 mutations in patients with Waardenburg-Hirschsprung disease. 雑誌 Nat Genet 18:171-3 (1998) DOI:10.1038/ng0298-171 PMID:10441344 (SOX10, WS2E) 著者 Bondurand N, Kuhlbrodt K, Pingault V, Enderich J, Sajus M, Tommerup N, Warburg M, Hennekam RC, Read AP, Wegner M, Goossens M タイトル A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. 雑誌 Hum Mol Genet 8:1785-9 (1999) DOI:10.1093/hmg/8.9.1785 PMID:8001158 (EDNRB) 著者 Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravart A タイトル A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. 雑誌 Cell 79:1257-66 (1994) DOI:10.1016/0092-8674(94)90016-7 PMID:8630502 (EDN3) 著者 Edery P, Attie T, Amiel J, Pelet A, Eng C, Hofstra RM, Martelli H, Bidaud C, Munnich A, Lyonnet S タイトル Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). 雑誌 Nat Genet 12:442-4 (1996) DOI:10.1038/ng0496-442 |