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Congenital alopecia totalis

MedGen UID:
870721
•Concept ID:
C4025175
•
Congenital Abnormality
HPO: HP:0005597

Definition

Loss of all scalp hair with congenital onset. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital alopecia totalis

Recent clinical studies

Clinical prediction guides

Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.
Wang H, Cao X, Lin Z, Lee M, Jia X, Ren Y, Dai L, Guan L, Zhang J, Lin X, Zhang J, Chen Q, Feng C, Zhou EY, Yin J, Xu G, Yang Y
Hum Mol Genet 2015 Jan 1;24(1):243-50. Epub 2014 Aug 28 doi: 10.1093/hmg/ddu442. PMID: 25168385

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