KEGG   DISEASE: PiebaldismHelp
Entry
H00170                      Disease                                

Name
Piebaldism
Description
Piebaldism is caused by mutation of kit proto-oncogene, or snail 2 transcription factor, 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 disease; Skin and connective tissue disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H00170  Piebaldism
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   Genetic syndromes affecting the skin
    EC23  Genetic disorders of skin pigmentation
     H00170  Piebaldism
BRITE hierarchy
Pathway
hsa04916  Melanogenesis
hsa04520  Adherens junction
Gene
KIT [HSA:3815] [KO:K05091]
SNAI2 [HSA:6591] [KO:K05706]
Other DBs
ICD-11: EC23.2Y
ICD-10: E70.3
MeSH: D016116
OMIM: 172800
Reference
  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

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