Preferred Label : Hypotrichosis 2;
Symbol : HYPT2;
CISMeF acronym : HTSS; HTSS1; HYPT2;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Hypotrichosis, spanish type; HTSS1; Hypotrichosis simplex of the scalp 1; HTSS;
Description : Hypotrichosis simplex can affect all body hair 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 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).
- Genetic Heterogeneity of Hypotrichosis Simplex of the Scalp Hypotrichosis simplex
of the scalp-2 (HTSS2; 613981) is caused by mutation in the KRT74 gene (608248) on
chromosome 12q13.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the corneodesmosin gene (CDSN, 602593.0001);
Prefixed ID : #146520;
Origin ID : 146520;
UMLS CUI : C1840299;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- Not associated HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
