Hypotrichosis 1 (HYPT1)

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Disease Ontology 12 DOID:0110698 OMIM 56 605389 OMIM Phenotypic Series 56 PS605389 MeSH 43 D007039

MedGen 41 C1854310 C4551976 SNOMED-CT via HPO 68 258211005 263681008 UMLS 71 C1854310

OMIM : ⁵⁶ 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 hypotrichosis 2 and substance abuse. An important gene associated with Hypotrichosis 1 is APCDD1 (APC Down-Regulated 1), and among its related pathways/superpathways are Cell adhesion molecules (CAMs) and Dendritic Cells Developmental Lineage Pathway. The drugs Anti-Bacterial Agents and Gentamicins have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are sparse eyebrow and sparse eyelashes

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

UniProtKB/Swiss-Prot : ⁷³ 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 NIH Clinical Center for Hypotrichosis 1

Search GEO for disease gene expression data for Hypotrichosis 1.