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H00759                      Disease                                

Waardenburg syndrome (WS)
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.
Inherited metabolic disease; Albinism
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Other congenital disorders of metabolism
   H00759  Waardenburg syndrome (WS)
Human diseases in ICD-10 classification [BR:br08403]
 4. Endocrine, nutritional and metabolic diseases (E00-E90)
  E70-E90  Metabolic disorders
   E70  Disorders of aromatic amino-acid metabolism
    H00759  Waardenburg syndrome (WS)
BRITE hierarchy
Adherens junction
Calcium signaling pathway
Neuroactive ligand-receptor interaction
(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
Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N
Review and update of mutations causing Waardenburg syndrome.
Hum Mutat 31:391-406 (2010)
Chen H, Jiang L, Xie Z, Mei L, He C, Hu Z, Xia K, Feng Y
Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
Biochem Biophys Res Commun 397:70-4 (2010)
Nissan X, Larribere L, Saidani M, Hurbain I, Delevoye C, Feteira J, Lemaitre G, Peschanski M, Baldeschi C
Functional melanocytes derived from human pluripotent stem cells engraft into pluristratified epidermis.
Proc Natl Acad Sci U S A 108:14861-6 (2011)

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