Hypotrichosis 1

Preferred Label : Hypotrichosis 1;

Symbol : HYPT1;

CISMeF acronym : HHS; HTS; HYPT1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypotrichosis simplex, generalized, hereditary; HHS; HTS;

Description : Hereditary hypotrichosis simplex (HHS) is a rare form of nonsyndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age. HHS can be largely divided into 2 forms: the scalp-limited form (146520) and the generalized form, in which all body hair is affected. HHS is characterized by progressive hair follicle miniaturization, which is a typical feature of androgenetic alopecia (see 109200). HHS can be inherited either as an autosomal dominant or autosomal recessive trait (see HYPT8, 278150) (summary by Shimomura et al., 2010). - Genetic Heterogeneity of Nonsyndromic Hypotrichosis Forms of nonsyndromic hypotrichosis include HYPT1; HYPT2 (146520), caused by mutation in the corneodesmosin gene (CDSN; 602593) on chromosome 6p21.3; HYPT3 (613981), caused by mutation in the keratin-74 gene (KRT74; 608248) on chromosome 12q13; HYPT4 (146550), caused by mutation in upstream regulatory regions of the hairless gene (HR; 602302) on chromosome 8p21.2; HYPT5 (612841), mapped to chromosome 1p21-q21; HYPT6 (607903); caused by mutation in the desmoglein-4 gene (DSG4; 607892) on chromosome 18q12; HYPT7 (604379), caused by mutation in the lipase H gene (LIPH; 607365) on chromosome 3q27-q28; HYPT8 (278150), caused by mutation in the LPAR6 gene (609239) on chromosome 13q14; HYPT9 (614237), mapped to chromosome 10q11.23-q22.3; and HYPT10 (614238), mapped to chromosome 7p22.3-p21.3.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the APC, downregulated by, 1 gene (APCDD1, 607479.0001);

Prefixed ID : #605389;

Details

Origin ID

605389;

UMLS CUI

C4551976;

Automatic exact mappings (from CISMeF team)
- Department of Health and Human Services [NCIt concept]
- hormone replacement therapy [MeSH Descriptor]
- hoyeraal hreidarsson syndrome [MeSH Supplementary Concept]
- hyperphosphatemic familial tumoral calcinosis [DO Concept]
- polypeptide N-acetylgalactosaminyltransferase 3 [ORDO Gene]
Broader ORDO disease(s)
- Hypotrichosis simplex [ORDO Disease]
Currated CISMeF NLP mapping
- hypotrichosis 1 [DO Concept]
DO Cross reference
- hypotrichosis 1 [DO Concept]
False automatic mappings
- Haiti [NCIt concept]
Genes related to phenotype
- Apc downregulated 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hypotrichosis [HPO term]
- Sparse axillary hair [HPO term]
- Sparse body hair [HPO term]
- Sparse eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- Sparse pubic hair [HPO term]
Not associated HPO term(s)
- Abnormality of the dentition [HPO term]
- Abnormality of the nail [HPO term]
- Abnormality of the skin [HPO term]
ORDO concept(s)
- Hypotrichosis simplex [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypotrichosis simplex [ORDO Disease]
- Hypotrichosis simplex [MeSH concept]
- hereditary hypotrichosis simplex [Disease (Nov.)]
- hypotrichosis 1 [DO Concept]
- hypotrichosis simplex [MeSH Supplementary Concept]

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