Hypotrichosis 6

Preferred Label : Hypotrichosis 6;

Symbol : HYPT6;

CISMeF acronym : HTL; HYPT6; LAH; LAH1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Monilethrix-like hypotrichosis; LAH1; HTL; LAH; Hypotrichosis, localized, autosomal recessive 1; Hypotrichosis, localized, autosomal recessive;

Description : Localized autosomal recessive hypotrichosis is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed (summary by Schaffer et al., 2006). - Genetic Heterogeneity of Autosomal Recessive Localized Hypotrichosis LAH2 (HYPT7; 604379) is caused by mutation in the LIPH gene (607365) on chromosome 3q27, and LAH3 (HYPT8; 278150) is caused by mutation in the;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the desmoglein 4 gene (DSG4, 607892.0001);

Prefixed ID : #607903;

Détails

Origin ID

607903;

UMLS CUI

C1842839;

Automatic exact mappings (from CISMeF team)
- Lahnda Language [NCIt concept]
- desmoglein 4 [ORDO Gene]
- hypotrichosis, localized, autosomal recessive 1 [MeSH concept]
- hypotrichosis, localized, autosomal recessive 1 [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Hypotrichosis simplex [ORDO Disease]
Currated CISMeF NLP mapping
- hypotrichosis 6 [DO Concept]
DO Cross reference
- hypotrichosis 6 [DO Concept]
Genes related to phenotype
- Desmoglein 4 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brittle hair [HPO term]
- Erythema [HPO term]
- Follicular hyperkeratosis [HPO term]
- Hypotrichosis [HPO term]
- Pili torti [HPO term]
- Pruritus [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
ORDO concept(s)
- Hypotrichosis simplex [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypotrichosis 6 [DO Concept]
- hypotrichosis, localized, autosomal recessive 1 [MeSH Supplementary Concept]
- hypotrichosis, localized, autosomal recessive 1 [MeSH concept]

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