KEGG   DISEASE: Waardenburg syndrome
Entry
H00759                      Disease                                
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 disease; Albinism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Other congenital disorders of metabolism
   H00759  Waardenburg syndrome
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC23  Genetic disorders of skin pigmentation
    H00759  Waardenburg syndrome
Related
pathway
hsa04916  Melanogenesis
hsa04520  Adherens junction
hsa04020  Calcium signaling pathway
hsa04080  Neuroactive ligand-receptor interaction
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]
Other DBs
ICD-11: EC23.2Y
ICD-10: E70.3
MeSH: D014849
OMIM: 193500 193510 608890 611584 148820 277580 613265 613266 609136
Reference
  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
Reference
  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
Reference
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)
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
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