KEGG   DISEASE: Piebaldism
Entry
H00170                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC23  Genetic disorders of skin pigmentation
    H00170  Piebaldism
Pathway
hsa04916  Melanogenesis
hsa04010  MAPK signaling pathway
hsa04520  Adherens junction
Gene
(PBT) KIT [HSA:3815] [KO:K05091]
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
Reference
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
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