Hypotrichosis 12 (HYPT12)

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OMIM 57 615885 Disease Ontology 12 DOID:0110709 MedGen 42 C4014563 CN189719

MeSH 44 D007039 SNOMED-CT via HPO 69 263681008 53602002 56558005 79395009 more UMLS 73 C4014563

UniProtKB/Swiss-Prot : ⁷⁵ Hypotrichosis 12: 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. HYPT12 patients have normal scalp hair density at birth. Hair loss begins during the first 6 months of life and gradually progresses to nearly complete loss of scalp hair. The remaining hairs grow slowly and are thin, sparse, dry, and fragile. Body hair, axillary and pubic hair, eyebrows and eyelashes are also sparse or absent.

MalaCards based summary : Hypotrichosis 12, is also known as hypt12. An important gene associated with Hypotrichosis 12 is RPL21 (Ribosomal Protein L21). Affiliated tissues include skin and eye, and related phenotypes are hypotrichosis and aplasia/hypoplasia of the eyebrow

Disease Ontology : ¹² A hypotrichosis that has material basis in a autosomal dominant mutation of RPL21 on chromosome 13q12.2.

Description from OMIM: 615885

Clinical features from OMIM:

615885

Search Clinical Trials , NIH Clinical Center for Hypotrichosis 12

Search GEO for disease gene expression data for Hypotrichosis 12.