| H00759 | |
| H number | H00759 |
| Name | Waardenburg syndrome |
| Description | 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. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC23.2Y ICD-10: E70.3 MeSH: D014849 OMIM: 193500 193510 608890 611584 148820 277580 613265 613266 609136 |
| Reference | PMID:20127975 AUTHORS Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N TITLE Review and update of mutations causing Waardenburg syndrome. JOURNAL Hum Mutat 31:391-406 (2010) DOI:10.1002/humu.21211 PMID:21856949 AUTHORS Nissan X, Larribere L, Saidani M, Hurbain I, Delevoye C, Feteira J, Lemaitre G, Peschanski M, Baldeschi C TITLE Functional melanocytes derived from human pluripotent stem cells engraft into pluristratified epidermis. JOURNAL Proc Natl Acad Sci U S A 108:14861-6 (2011) DOI:10.1073/pnas.1019070108 PMID:8447316 (PAX3) AUTHORS Hoth CF, Milunsky A, Lipsky N, Sheffer R, Clarren SK, Baldwin CT TITLE 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). JOURNAL Am J Hum Genet 52:455-62 (1993) PMID:7874167 (MITF) AUTHORS Tassabehji M, Newton VE, Read AP TITLE Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. JOURNAL Nat Genet 8:251-5 (1994) DOI:10.1038/ng1194-251 PMID:12444107 (SNAI2) AUTHORS Sanchez-Martin M, Rodriguez-Garcia A, Perez-Losada J, Sagrera A, Read AP, Sanchez-Garcia I TITLE SLUG (SNAI2) deletions in patients with Waardenburg disease. JOURNAL Hum Mol Genet 11:3231-6 (2002) DOI:10.1093/hmg/11.25.3231 PMID:9462749 (SOX10, WS4C) AUTHORS 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 TITLE SOX10 mutations in patients with Waardenburg-Hirschsprung disease. JOURNAL Nat Genet 18:171-3 (1998) DOI:10.1038/ng0298-171 PMID:10441344 (SOX10, WS2E) AUTHORS Bondurand N, Kuhlbrodt K, Pingault V, Enderich J, Sajus M, Tommerup N, Warburg M, Hennekam RC, Read AP, Wegner M, Goossens M TITLE A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. JOURNAL Hum Mol Genet 8:1785-9 (1999) DOI:10.1093/hmg/8.9.1785 PMID:8001158 (EDNRB) AUTHORS Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravart A TITLE A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. JOURNAL Cell 79:1257-66 (1994) DOI:10.1016/0092-8674(94)90016-7 PMID:8630502 (EDN3) AUTHORS Edery P, Attie T, Amiel J, Pelet A, Eng C, Hofstra RM, Martelli H, Bidaud C, Munnich A, Lyonnet S TITLE Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). JOURNAL Nat Genet 12:442-4 (1996) DOI:10.1038/ng0496-442 |