KEGG   DISEASE: Waardenburg syndromeHelp
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, SOX10, MITF, EDNR, EDN3, and SNAIL2.
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
   Genetic syndromes affecting the skin
    EC23  Genetic disorders of skin pigmentation
     H00759  Waardenburg syndrome
BRITE hierarchy
Pathway
hsa04916  Melanogenesis
hsa04520  Adherens junction
hsa04020  Calcium signaling pathway
hsa04080  Neuroactive ligand-receptor interaction
hsa04916  Melanogenesis
Gene
(WS 1/3) PAX3 [HSA:5077] [KO:K09381]
(WS 2A) MITF [HSA:4286] [KO:K09455]
(WS 2D) SNAI2 [HSA:6591] [KO:K05706]
(WS 2E/4C) SOX10 [HSA:6663] [KO:K09270]
(WS 4A) EDNRB [HSA:1910] [KO:K04198]
(WS 4B) 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
Chen H, Jiang L, Xie Z, Mei L, He C, Hu Z, Xia K, Feng Y
  Title
Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
  Journal
Biochem Biophys Res Commun 397:70-4 (2010)
DOI:10.1016/j.bbrc.2010.05.066
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

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