KEGG   DISEASE: H00759Help
Entry
H00759                      Disease                                

Name
Waardenburg syndrome (WS)
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 hierarchy
Pathway
Melanogenesis
Adherens junction
Calcium signaling pathway
Neuroactive ligand-receptor interaction
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
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)
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)
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)

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