Hypotrichosis 3 (HYPT3)

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Disease Ontology 12 DOID:0110700 OMIM 56 613981 OMIM Phenotypic Series 56 PS605389 MeSH 43 D007039

MedGen 41 C3151432 SNOMED-CT via HPO 68 263681008 UMLS 71 C3151432

OMIM : ⁵⁶ Hypotrichosis simplex can affect all body hair (generalized; see 605389) or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from patients with early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by Betz et al., 2000). For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (605389). (613981)

MalaCards based summary : Hypotrichosis 3, also known as hypotrichosis simplex of the scalp 2, is related to mucinoses and atrichia with papular lesions. An important gene associated with Hypotrichosis 3 is KRT74 (Keratin 74), and among its related pathways/superpathways are Keratinization and RAB GEFs exchange GTP for GDP on RABs. Affiliated tissues include eye and t cells, and related phenotypes are sparse scalp hair and hypotrichosis of the scalp

Disease Ontology : ¹² A hypotrichosis that has material basis in a autosomal dominant mutation of KRT74 on chromosome 12q13.13.

UniProtKB/Swiss-Prot : ⁷³ Hypotrichosis 3: A condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally.

Clinical features from OMIM:

613981

Search Clinical Trials , NIH Clinical Center for Hypotrichosis 3

Search GEO for disease gene expression data for Hypotrichosis 3.