Hypotrichosis 12 (HYPT12)

External Ids:

Disease Ontology 12 DOID:0110709 OMIM® 57 615885 OMIM Phenotypic Series 57 PS605389 MeSH 44 D007039

MedGen 41 C4014563 CN189719 SNOMED-CT via HPO 68 263681008 53602002 56558005 79395009 more UMLS 70 C4014563

UniProtKB/Swiss-Prot : ⁷² 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. HYPT12 inheritance is autosomal dominant.

MalaCards based summary : Hypotrichosis 12, is also known as hypt12. An important gene associated with Hypotrichosis 12 is RPL21 (Ribosomal Protein L21). Related phenotypes are aplasia/hypoplasia of the eyebrow and sparse hair

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

More information from OMIM: 615885 PS605389

Clinical features from OMIM®:

615885 (Updated 05-Apr-2021)

Search Clinical Trials , NIH Clinical Center for Hypotrichosis 12

Search GEO for disease gene expression data for Hypotrichosis 12.