| H00170 | |
| H number | H00170 |
| Name | Piebaldism |
| Description | Piebaldism is caused by mutations of kit proto-oncogene implicated in the differentiation and migration of melanoblasts. The disease is characterized by the congenital absence of melanocytes in affected areas of the skin and hair. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | (PBT) KIT [HSA:3815] [KO:K05091] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC23.2Y ICD-10: E70.3 MeSH: D016116 OMIM: 172800 |
| Reference | PMID:15485525 AUTHORS Thomas I, Kihiczak GG, Fox MD, Janniger CK, Schwartz RA TITLE Piebaldism: an update. JOURNAL Int J Dermatol 43:716-9 (2004) DOI:10.1111/j.1365-4632.2004.02114.x PMID:1717985 (PBT) AUTHORS Giebel LB, Spritz RA TITLE Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. JOURNAL Proc Natl Acad Sci U S A 88:8696-9 (1991) DOI:10.1073/pnas.88.19.8696 |