KEGG   DISEASE: Dyschromatosis symmetrica hereditaria
Entry
H00880                      Disease                                
Name
Dyschromatosis symmetrica hereditaria
Description
Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance. It presents in infancy or early childhood as a mixture of hyperpigmented and hypopigmented macules on dorsa of hands and feet. It is caused by a mutation of adenosine deaminase acting on the RNA 1 gene (ADAR1).
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
    H00880  Dyschromatosis symmetrica hereditaria
Pathway-based classification of diseases [BR:br08402]
 Immune system
  nt06519  RLR signaling
   H00880  Dyschromatosis symmetrica hereditaria
Pathway
hsa04623  Cytosolic DNA-sensing pathway
Network
nt06519 RLR signaling
Gene
ADAR [HSA:103] [KO:K12968]
Other DBs
ICD-11: EC23.Y
MeSH: C535729
OMIM: 127400
Reference
PMID:16882194
  Authors
Liu Y, Xiao SX, Peng ZH, Lei XB, Wang JM, Li Y, Li XL
  Title
Two frameshift mutations of the double-stranded RNA-specific adenosine deaminase gene in Chinese pedigrees with dyschromatosis symmetrica hereditaria.
  Journal
Br J Dermatol 155:473-6 (2006)
DOI:10.1111/j.1365-2133.2006.07223.x
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