KEGG DISEASE: Waardenburg syndrome

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 disorder

Brite

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
Pathway-based classification of diseases [BR:br08402]
Endocrine system
  nt06325  Hormone/cytokine signaling
   H00759  Waardenburg syndrome

Pathway

Melanogenesis

Adherens junction

Calcium signaling pathway

Neuroactive ligand-receptor interaction

Network

nt06325 Hormone/cytokine signaling

Gene

(WS1/3) PAX3 [HSA:5077] [KO:K09381]
(WS2A) MITF [HSA:4286] [KO:K09455]
(WS2E/4C) SOX10 [HSA:6663] [KO:K09270]
(WS2F) KITLG [HSA:4254] [KO:K05461]
(WS4A) EDNRB [HSA:1910] [KO:K04198]
(WS4B) EDN3 [HSA:1908] [KO:K05227]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

193500 193510 611584 619947 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 (WS1 WS3)

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 (WS2A)

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:10441344 (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:28504826 (WS2F)

Authors

Ogawa Y, Kono M, Akiyama M

Title

Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation.

Journal

Pigment Cell Melanoma Res 30:501-504 (2017)
DOI:10.1111/pcmr.12597

Reference

PMID:8001158 (WS4A)

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 (WS4B)

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

Reference

PMID:9462749 (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

LinkDB

» Japanese version

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