KEGG   DISEASE: Familial progressive hyperpigmentation
Entry
H00884                      Disease                                
Name
Familial progressive hyperpigmentation
Description
Familial progressive hyperpigmentation is a dominantly inherited genodermatosis, in which patches of hyperpigmentation in the skin are present at birth. Increased number and average size of melanin granules in cells of pigmented area are the features of this disease.
Category
Skin disease
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
    H00884  Familial progressive hyperpigmentation
Pathway
hsa04916  Melanogenesis
hsa04014  Ras signaling pathway
hsa04151  PI3K-Akt signaling pathway
hsa04010  MAPK signaling pathway
Gene
KITLG [HSA:4254] [KO:K05461]
Other DBs
ICD-11: EC23.0
MeSH: C564163
OMIM: 145250
Reference
PMID:21368769
  Authors
Amyere M, Vogt T, Hoo J, Brandrup F, Bygum A, Boon L, Vikkula M
  Title
KITLG mutations cause familial progressive hyper- and hypopigmentation.
  Journal
J Invest Dermatol 131:1234-9 (2011)
DOI:10.1038/jid.2011.29
Reference
PMID:15708290
  Authors
Passeron T, Mantoux F, Ortonne JP
  Title
Genetic disorders of pigmentation.
  Journal
Clin Dermatol 23:56-67 (2005)
DOI:10.1016/j.clindermatol.2004.09.013
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