Hypotrichosis 11 (HYPT11)

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Disease Ontology 12 DOID:0110708 OMIM® 57 615059 OMIM Phenotypic Series 57 PS605389 MeSH 44 D007039

MedGen 41 C3554409 CN165240 SNOMED-CT via HPO 68 263681008 278040002 53602002 56317004 56558005 more UMLS 70 C3554409

UniProtKB/Swiss-Prot : ⁷² Hypotrichosis 11: A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT11 is an autosomal dominant form characterized by scanty or absent eyebrows and a highly variable degree of alopecia since birth, ranging from slight thinning of scalp and axillary hair to complete loss of scalp and body hair. Pubic hair remains mainly unaffected.

MalaCards based summary : Hypotrichosis 11, also known as hypt11, is related to acrocephalopolysyndactyly type iii and ectodermal dysplasia 6, hair/nail type. An important gene associated with Hypotrichosis 11 is SNRPE (Small Nuclear Ribonucleoprotein Polypeptide E), and among its related pathways/superpathways is Keratinization. Related phenotypes are alopecia and aplasia/hypoplasia of the eyebrow

Disease Ontology : ¹² A hypotrichosis that has material basis in a autosomal dominant mutation of SNRPE on chromosome 1q32.1.

More information from OMIM: 615059 PS605389

Clinical features from OMIM®:

615059 (Updated 05-Apr-2021)

Search Clinical Trials , NIH Clinical Center for Hypotrichosis 11

Search GEO for disease gene expression data for Hypotrichosis 11.