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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

Diagnosis

FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis.
Radha Rama Devi A, Panday NN, Naushad SM
Gene 2017 Sep 5;627:222-225. Epub 2017 Jun 19 doi: 10.1016/j.gene.2017.06.033. PMID: 28636882

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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