Hypotrichosis 2

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;

Details

Origin ID

146520;

UMLS CUI

C1840299;

Automatic exact mappings (from CISMeF team)
- Hereditary hypotrichosis of scalp [ICD-11 More detail]
- hypotrichosis simplex of scalp [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- hypotrichosis 2 [DO Concept]
DO Cross reference
- hypotrichosis 2 [DO Concept]
Genes related to phenotype
- Corneodesmosin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hypotrichosis of the scalp [HPO term]
- Sparse scalp hair [HPO term]
Not associated HPO term(s)
- Abnormality of the dentition [HPO term]
- Abnormality of the nail [HPO term]
ORDO concept(s)
- Hypotrichosis simplex of the scalp [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary hypotrichosis simplex of scalp (disorder) [SNOMED CT concept]
- Hypotrichosis simplex of the scalp [ORDO Disease]
- hypotrichosis 2 [DO Concept]
- hypotrichosis simplex of scalp [MeSH Supplementary Concept]
- hypotrichosis simplex of scalp [MeSH concept]

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