Hypertriglyceridemia 1

Preferred Label : Hypertriglyceridemia 1;

Symbol : HYTG1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypertriglyceridemia, familial;

Description : Most individuals with familial hypertriglyceridemia have a hyperlipoproteinemia IV (144600) phenotype. Relatives of affected persons (ascertained in a study of survivors of coronary occlusion) were found to have normal cholesterol distribution and bimodal triglyceride distribution (Goldstein et al., 1973). Hypertriglyceridemia is not completely expressed in affected children. - Genetic Heterogeneity of Hypertriglyceridemia Hypertriglyceridemia has many causes but, whatever its cause, there is evidence for its role as a coronary heart disease risk factor. Hypertriglyceridemia is commonly found in individuals with type II diabetes mellitus (125853). Several genetic bases for hypertriglyceridemia have been identified. Familial combined hyperlipidemia (HYPLIP1; 602491) is due to variation in the USF1 gene (191523) on chromosome 1q21-q23. Some mutations in the ABCA1 gene (600046) caused Tangier disease (205400), whereas others caused a mild disorder called type II familial high density lipoprotein deficiency, or hypoalphalipoproteinemia (604091). Both disorders are associated with hypertriglyceridemia.;

Inheritance : Autosomal dominant;

Prefixed ID : #145750;

Details

Origin ID

145750;

UMLS CUI

C5444012;

Automatic exact mappings (from CISMeF team)
- Hyperlipoproteinaemia type 4 [ICD-11 More detail]
- triglycerides [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Familial hypertriglyceridaemia [MedDRA Preferred Term]
- Familial hypertriglyceridemia [MedDRA LLT]
- Familial hypertriglyceridemia (disorder) [SNOMED CT concept]
- Hyperlipoproteinemia type 4 [ORDO Disease]
- familial hypertriglyceridemia [SNOMED Notion]
- hyperlipoproteinemia type IV [DO Concept]
- hyperlipoproteinemia type IV [MeSH concept]
- hyperlipoproteinemia type iv [MeSH Descriptor]
DO Cross reference
- hyperlipoproteinemia type IV [DO Concept]
Genes related to phenotype
- Apolipoprotein a-V [OMIM gene]
HPO term(s)
- Atheroeruptive xanthoma [HPO term]
- Autosomal dominant inheritance [HPO term]
- Glucose intolerance [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypopituitarism [HPO term]
- Increased VLDL cholesterol concentration [HPO term]
- Precocious atherosclerosis [HPO term]
ORDO concept(s)
- Hyperlipoproteinemia type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Endogenous hyperlipidemia (disorder) [SNOMED CT concept]
- Familial hypertriglyceridaemia [MedDRA Preferred Term]
- Familial hypertriglyceridemia [MedDRA LLT]
- Familial hypertriglyceridemia (disorder) [SNOMED CT concept]
- Fredrickson Type IV Lipidemia [NCIt concept]
- Fredrickson Type IV lipidaemia [MedDRA LLT]
- Fredrickson Type IV lipidemia [MedDRA LLT]
- Fredrickson type IV hyperlipoproteinemia (disorder) [SNOMED CT concept]
- Hyperlipoproteinemia type 4 [ORDO Disease]
- Pure hyperglyceridaemia [ICD-10 Sub-category (who)]
- Pure hyperglyceridaemia [MedDRA LLT]
- Pure hyperglyceridemia [ICD-9 code]
- Pure hyperglyceridemia [MedDRA LLT]
- Pure hyperglyceridemia [ICD-10 Sub-category]
- Pure hyperglyceridemia (disorder) [SNOMED CT concept]
- Type IV hyperlipidaemia [MedDRA Preferred Term]
- Type IV hyperlipidemia [MedDRA LLT]
- Type IV hyperlipoproteinaemia [MedDRA LLT]
- Type IV hyperlipoproteinemia [MedDRA LLT]
- Type IV lipidaemia [MedDRA LLT]
- Type IV lipidemia [MedDRA LLT]
- familial hypertriglyceridemia [SNOMED Notion]
- hyperlipoproteinemia type IV [MeSH concept]
- hyperlipoproteinemia type IV [DO Concept]
- hyperlipoproteinemia type IV [Disease (Nov.)]
- hyperlipoproteinemia type iv [MeSH Descriptor]
Validated automatic mappings to BTNT
- hyperlipoproteinemia type IV [Disease (Nov.)]

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