Hypotrichosis 4 (HYPT4)

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Disease Ontology 12 DOID:0110701 OMIM® 57 146550 OMIM Phenotypic Series 57 PS605389 MeSH 44 D007039

MedGen 41 C2750815 SNOMED-CT via HPO 68 17170005 263681008 278040002 53602002 56317004 56558005 more UMLS 70 C2750815

OMIM® : ⁵⁷ Hypotrichosis-4 (HYPT4), also known as Marie Unna hereditary hypotrichosis-1 (MUHH1), is an autosomal dominant form of hair loss characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth. Coarse, wiry hair begins to grow during childhood. Around puberty, progressive hair loss occurs in the affected patients. Although the disorder has the potential to affect all hair shafts, progressive and patterned alopecia of the scalp is the main manifestation of the disorder (summary by Mansur et al., 2010). For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see 605389. (146550) (Updated 20-May-2021)

MalaCards based summary : Hypotrichosis 4, also known as marie unna hereditary hypotrichosis 1, is related to hypotrichosis and hypotrichosis 5. An important gene associated with Hypotrichosis 4 is HRURF (HR Upstream Open Reading Frame), and among its related pathways/superpathways is Histidine metabolism. Affiliated tissues include eye, and related phenotypes are alopecia and sparse body hair

Disease Ontology : ¹² A hypotrichosis that has material basis in a autosomal dominant mutation of HR on chromosome 8p21.3.

UniProtKB/Swiss-Prot : ⁷² Hypotrichosis 4: An autosomal dominant condition characterized by reduced amount of hair, alopecia, little or no eyebrows, eyelashes or body hair, and coarse, wiry, twisted hair in early childhood.

Clinical features from OMIM®:

146550 (Updated 20-May-2021)

Search Clinical Trials , NIH Clinical Center for Hypotrichosis 4

Search GEO for disease gene expression data for Hypotrichosis 4.