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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] |
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| 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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