Hypotrichosis 1 (HYPT1)

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OMIM 57 605389 Disease Ontology 12 DOID:0110698 MedGen 42 C1854310

MeSH 44 D007039 SNOMED-CT via HPO 69 263681008 258211005 53602002 56558005 more UMLS 73 C1854310

OMIM : ⁵⁷ Hereditary hypotrichosis simplex (HHS) is a rare form of nonsyndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age. HHS can be largely divided into 2 forms: the scalp-limited form (e.g., 146520) and the generalized form, in which all body hair is affected. HHS is characterized by progressive hair follicle miniaturization, which is a typical feature of androgenetic alopecia (see 109200). HHS can be inherited either as an autosomal dominant or autosomal recessive trait (e.g., HYPT8, 278150) (summary by Shimomura et al., 2010). (605389)

MalaCards based summary : Hypotrichosis 1, also known as hypt1, is related to tumoral calcinosis, hyperphosphatemic, familial, 1 and hypotrichosis simplex of the scalp. An important gene associated with Hypotrichosis 1 is APCDD1 (APC Down-Regulated 1), and among its related pathways/superpathways are Presynaptic function of Kainate receptors and Signaling by Hedgehog. Affiliated tissues include skin, eye and colon, and related phenotypes are hypotrichosis and sparse body hair

Disease Ontology : ¹² A hypotrichosis that has material basis in a autosomal dominant mutation of APCDD1 on chromosome 18p11.22.

UniProtKB/Swiss-Prot : ⁷⁵ Hypotrichosis 1: A rare form of non-syndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age.

Clinical features from OMIM:

605389

Search Clinical Trials , NIH Clinical Center for Hypotrichosis 1

Search GEO for disease gene expression data for Hypotrichosis 1.