Hypoalphalipoproteinemia, primary, 1

Preferred Label : Hypoalphalipoproteinemia, primary, 1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FHA; FHD; HDLC; HDLD; Hypoalphalipoproteinemia, familial; Familial hdl deficiency; High density lipoprotein deficiency; Hdl cholesterol, low serum;

Included titles and symbols : HDLCQ13; High density lipoprotein cholesterol level quantitative trait locus 13;

Description : Twenty to 30% of early familial coronary heart disease (CHD) is ascribed to hypoalphalipoproteinemia, or high density lipoprotein deficiency. Although not initially recognized as a predisposing dyslipidemia, extensive epidemiologic work has implicated low high-density lipoprotein cholesterol (HDLC) levels in increased risk of cardiovascular disease, and low HDLC is considered to be a true dyslipidemic syndrome (Warnick and Wood, 1995).;

Prefixed ID : #604091;

Details

Origin ID

604091;

UMLS CUI

C5231558;

Automatic exact mappings (from CISMeF team)
- FHD [MeSH concept]
- FHD [MeSH Supplementary Concept]
- Familial HDL deficiency [MeSH concept]
- Hdl Deficiency, Type 2 [MeSH Supplementary Concept]
- High density lipoprotein deficiency (disorder) [SNOMED CT concept]
- Hypoalphalipoproteinaemia [ICD-11 Subcategory]
- Hypoalphalipoproteinemia [PASCAL descriptor]
- Lipoprotein deficiency [ICD-10 Sub-category (who)]
- Primary hypoalphalipoproteinemia [MedDRA LLT]
Currated CISMeF NLP mapping
- Familial hypoalphalipoproteinemia (disorder) [SNOMED CT concept]
- Hypoalphalipoproteinaemia [MedDRA LLT]
- Hypoalphalipoproteinemia [ORDO Disease]
- Hypoalphalipoproteinemia [NCIt concept]
- Hypoalphalipoproteinemia [MedDRA LLT]
- Hypoalphalipoproteinemia (disorder) [SNOMED CT concept]
- Tangier Disease [NCIt concept]
- Tangier disease [Disease (Nov.)]
- Tangier disease [MedDRA Preferred Term]
- Tangier disease [DO Concept]
- Tangier disease [ORDO Disease]
- familial hypoalphalipoproteinemia [SNOMED Notion]
- hypoalphalipoproteinemia, familial [MeSH concept]
- hypoalphalipoproteinemias [MeSH concept]
- hypoalphalipoproteinemias [MeSH Descriptor]
- primary hypoalphalipoproteinemia 1 [DO Concept]
- tangier disease [MeSH concept]
- tangier disease [MeSH Descriptor]
Genes related to phenotype
- Atp-binding cassette, subfamily a, member 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Decreased HDL cholesterol concentration [HPO term]
- Myocardial infarction [HPO term]
- Premature coronary artery atherosclerosis [HPO term]
Matching ORDO disease(s)
- Hypoalphalipoproteinemia [ORDO Disease]
Not associated HPO term(s)
- Hypertriglyceridemia [HPO term]
ORDO concept(s)
- Apolipoprotein A-I deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hypoalphalipoproteinemia (disorder) [SNOMED CT concept]
- familial hypoalphalipoproteinemia [SNOMED Notion]
- hypoalphalipoproteinemia, familial [MeSH concept]
Validated automatic mappings to NTBT
- Apolipoprotein A-I deficiency [ORDO Disease]

Keyword's position in hierarchy(ies) :

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