Hyperalphalipoproteinemia 1

Preferred Label : Hyperalphalipoproteinemia 1;

Symbol : HALP1;

CISMeF acronym : HALP1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cholesterol ester transfer protein deficiency; Cetp deficiency;

Included titles and symbols : High density lipoprotein cholesterol level quantitative trait locus 10; Hdlcq10;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the plasma cholesteryl ester transfer protein gene (CETP, 118470.0001);

Laboratory abnormalities : Cholesteryl ester transfer protein deficiency; Mildly elevated HDL in heterozygotes; Elevated apoA-I (1.8x normal) in homozygotes; Elevated HDL (2-6x normal) in homozygotes; Normal apoA-II levels in homozygotes;

Prefixed ID : #143470;

Details

Origin ID

143470;

UMLS CUI

C3149462;

Automatic exact mappings (from CISMeF team)
- hyperalphalipoproteinemia 1 [DO Concept]
Currated CISMeF NLP mapping
- Cholesterol-ester transfer protein deficiency [ORDO Disease]
- Familial hyperalphalipoproteinemia (disorder) [SNOMED CT concept]
- Hyperalphalipoproteinaemia due to cholesteryl ester transfer protein deficiency [ICD-11 More detail]
- Hyperalphalipoproteinemia [NCIt concept]
- Hyperalphalipoproteinemia [PASCAL descriptor]
- Hyperalphalipoproteinemia [ORDO Disease]
- Hyperalphalipoproteinemia (disorder) [SNOMED CT concept]
- cholesterol ester transfer protein deficiency [Disease (Nov.)]
- cholesteryl ester transfer protein deficiency [MeSH Supplementary Concept]
- cholesteryl ester transfer protein deficiency [MeSH concept]
- hyperalphalipoproteinemia [Disease (Nov.)]
DO Cross reference
- hyperalphalipoproteinemia 1 [DO Concept]
Genes related to phenotype
- Cholesteryl ester transfer protein, plasma [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Increased HDL cholesterol concentration [HPO term]
Not associated HPO term(s)
- Xanthomatosis [HPO term]
ORDO concept(s)
- Cholesterol-ester transfer protein deficiency [ORDO Disease]
See also inter- (CISMeF)
- CETP wt Allele [NCIt concept]
- Hyperalphalipoproteinaemia [ICD-11 Subcategory]
- Increased HDL cholesterol concentration [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- Familial hyperalphalipoproteinemia (disorder) [SNOMED CT concept]
- cholesterol ester transfer protein deficiency [Disease (Nov.)]

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