KEGG   DISEASE: Acrokeratosis verruciformis
Entry
H00755                      Disease                                
Name
Acrokeratosis verruciformis
Description
Acrokeratosis verruciformis is a rare autosomal dominant genodermatosis characterized by multiple planar wart-like lesions on the hands and feet. The lesions are usually present at birth. Mutations in ATP2A2 encoding the calcium pump in sarcoendoplasmic reticulum have been identified.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H00755  Acrokeratosis verruciformis
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06528  Calcium signaling
   H00755  Acrokeratosis verruciformis
 Cellular process
  nt06535  Efferocytosis
   H00755  Acrokeratosis verruciformis
Pathway
hsa04020  Calcium signaling pathway
Network
nt06528 Calcium signaling
nt06535 Efferocytosis
Gene
ATP2A2 [HSA:488] [KO:K05853]
Other DBs
ICD-11: EC20.Y
ICD-10: Q82.8
MeSH: D007644
OMIM: 101900
Reference
PMID:12542527
  Authors
Dhitavat J, Macfarlane S, Dode L, Leslie N, Sakuntabhai A, MacSween R, Saihan E, Hovnanian A
  Title
Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease.
  Journal
J Invest Dermatol 120:229-32 (2003)
DOI:10.1046/j.1523-1747.2003.t01-1-12045.x
Reference
PMID:22028575
  Authors
Bang CH, Kim HS, Park YM, Kim HO, Lee JY
  Title
Non-familial Acrokeratosis Verruciformis of Hopf.
  Journal
Ann Dermatol 23 Suppl 1:S61-3 (2011)
DOI:10.5021/ad.2011.23.S1.S61
Reference
PMID:16150218
  Authors
Rallis E, Economidi A, Papadakis P, Verros C
  Title
Acrokeratosis verruciformis of Hopf (Hopf disease): case report and review of the literature.
  Journal
Dermatol Online J 11:10 (2005)

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Network (3)   
   KEGG NETWORK (2)   
   KEGG VARIANT (1)   
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (9)   

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