KEGG   DISEASE: Dyschromatosis universalis hereditaria
Entry
H02350                      Disease                                
Name
Dyschromatosis universalis hereditaria
Description
Dyschromatosis universalis hereditaria (DUH) is a group of congenital pigmentary disorders characterized by asymptomatic hypo- and hyper-pigmented macules of irregular size and shape which appear early in life. At least two causative genes, ABCB6 and SASH1, have been reported.
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
    H02350  Dyschromatosis universalis hereditaria
Gene
(DUH1) SASH1 [HSA:23328] [KO:K23705]
(DUH3) ABCB6 [HSA:10058] [KO:K05661]
Other DBs
ICD-11: EC23.Y
MeSH: C535730
OMIM: 127500 615402
Reference
PMID:29956681
  Authors
Zhong WL, Wang HJ, Lin ZM, Yang Y
  Title
Novel mutations in SASH1 associated with dyschromatosis universalis hereditaria.
  Journal
Indian J Dermatol Venereol Leprol 85:440 (2019)
DOI:10.4103/ijdvl.IJDVL_360_17
Reference
PMID:24224009
  Authors
Cui YX, Xia XY, Zhou Y, Gao L, Shang XJ, Ni T, Wang WP, Fan XB, Yin HL, Jiang SJ, Yao B, Hu YA, Wang G, Li XJ
  Title
Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.
  Journal
PLoS One 8:e79808 (2013)
DOI:10.1371/journal.pone.0079808
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