Non-syndromic hypotrichosisGene: APCDD1
Comment on list classification: Updated rating from Red to Green: 1 expert review plus 3 unrelated cases (Pakistani, Italian and Chinese families) of Hereditary hypotrichosis simplex (OMIM:605389).
Created: 24 Jan 2017, 2:49 p.m.
In affected members of a large 5-generation Chinese family segregating hypotrichosis simplex, Li et al. (2012, PMID: 22512811) identified heterozygosity for the L9R mutation.
Created: 23 Jan 2017, 4:17 p.m.
In 2 Pakistani and 1 Italian family with autosomal dominant hypotrichosis simplex (HYPT1, OMIM:605389), Shimomura et al. (2010, PMID:20393562) identified a heterozygous 26T-G transversion in APCDD1 (L9R substitution).
Created: 23 Jan 2017, 4:16 p.m.
Only two reports. The hair is said to be normal at birth so although this is a form of non-syndromic hypotrichosis it is not congenital.
Created: 20 Jan 2017, 4:34 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 February 2017: Panel review was assessed, and panel was revised according to expert review and additional curation. Queried with the expert reviewer whether the 'Non-syndromic hypotrichosis' and 'cicatricial alopecia' panels should be combined based on overlapping phenotypes. Celia Moss commented that dermatologists consider cicatricial (scarring) alopecia distinct from simple hypotrichosis (in which there is no scarring); therefore have kept the panels separate.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for APCDD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene APCDD1 were set to Hereditary hypotrichosis simplex (HHS); Hypotrichosis simplex (HS); Hypotrichosis 1; non-syndromic hereditary hypotrichosis; Hypotrichosis 1, 605389
APCDD1 was added to Non-syndromic hypotrichosispanel. Source: Radboud University Medical Center, Nijmegen
APCDD1 was created by rfoulger
APCDD1 was added to Non-syndromic hypotrichosispanel. Sources: Other