Ectodermal dysplasiaGene: 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
gene: APCDD1 was added gene: APCDD1 was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: APCDD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APCDD1 were set to 20393562; 22512811 Phenotypes for gene: APCDD1 were set to Hypotrichosis 1; non-syndromic hereditary hypotrichosis; Hypotrichosis 1, 605389; Hypotrichosis simplex (HS); Hereditary hypotrichosis simplex (HHS)