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Entry Name Description Category Pathway Gene
H00759 Waardenburg syndrome ... 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. Inherited metabolic disorder (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]
H02356 PCWH syndrome
Waardenburg-Shah syndrome, neurologic variant
... dysmyelination, Waardenburg syndrome, and Hirschsprung disease) is a rare inherited disorder caused by SOX10 mutations. SOX10 regulates the development and maintenance of neural crest derivatives including ... Nervous system disease SOX10 [HSA:6663] [KO:K09270]
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