KEGG   DISEASE: Hypotrichosis and recurrent skin vesicles
Entry
H00782                      Disease                                
Name
Hypotrichosis and recurrent skin vesicles
Description
Hypotrichosis and recurrent skin vesicles is a condition with sparse and fragile hair on scalp and vesicles on the skin over the body. Desmocollin 3, a transmembrane component of desmosomes, is associated with the 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
   EC21  Genetic defects of hair or hair growth
    H00782  Hypotrichosis and recurrent skin vesicles
Gene
DSC3 [HSA:1825] [KO:K07602]
Other DBs
ICD-11: EC21.3
MeSH: C567751
OMIM: 613102
Reference
  Authors
Ayub M, Basit S, Jelani M, Ur Rehman F, Iqbal M, Yasinzai M, Ahmad W
  Title
A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.
  Journal
Am J Hum Genet 85:515-20 (2009)
DOI:10.1016/j.ajhg.2009.08.015
Reference
  Authors
Payne AS
  Title
No evidence of skin blisters with human desmocollin-3 gene mutation.
  Journal
Am J Hum Genet 86:292; author reply 292 (2010)
DOI:10.1016/j.ajhg.2009.09.021

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