Hyperlipoproteinemia, type I

Preferred Label : Hyperlipoproteinemia, type I;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lpl deficiency; Hyperlipemia, essential familial; Hyperlipemia, idiopathic, burger-grutz type; Chylomicronemia, familial; Lipoprotein lipase deficiency; Hyperchylomicronemia, familial; Lipd deficiency; Hyperlipoproteinemia, type ia; Lipase D deficiency;

Included titles and symbols : High density lipoprotein cholesterol level quantitative trait locus 11; HDLCQ11;

Inheritance : Autosomal recessive; multiple alleles and compounds;

Prefixed ID : #238600;

Details

Origin ID

238600;

UMLS CUI

C0023817;

Automatic exact mappings (from CISMeF team)
- LPL wt Allele [NCIt concept]
- Lipoprotein lipase deficiency [PASCAL descriptor]
- hyperlipoproteinemia type ii [MeSH Descriptor]
- hyperlipoproteinemia type iii [MeSH Descriptor]
- hyperlipoproteinemia type v [MeSH Descriptor]
Currated CISMeF NLP mapping
- Familial hyperchylomicronemia (disorder) [SNOMED CT concept]
- Familial lipoprotein lipase deficiency [ORDO Disease]
- Familial lipoprotein lipase deficiency (disorder) [SNOMED CT concept]
- Hyperchylomicronaemia [MedDRA Preferred Term]
- Hyperlipoproteinaemia type 1 [ICD-11 More detail]
- Hyperlipoproteinemia type 1 [ORDO Disease]
- Hyperlipoproteinemia, Type I [NCIt concept]
- Type I hyperlipoproteinaemia [MedDRA LLT]
- Type I hyperlipoproteinemia [MedDRA LLT]
- hyperlipoproteinemia type I [Disease (Nov.)]
- hyperlipoproteinemia type I [MeSH concept]
- hyperlipoproteinemia type i [MeSH Descriptor]
DO Cross reference
- familial lipoprotein lipase deficiency [DO Concept]
Genes related to phenotype
- Lipoprotein lipase [OMIM gene]
HPO term(s)
- Abnormality of the cardiovascular system [HPO term]
- Autosomal recessive inheritance [HPO term]
- Episodic abdominal pain [HPO term]
- Eruptive xanthomas [HPO term]
- Hepatosplenomegaly [HPO term]
- Hypercholesterolemia [HPO term]
- Hyperlipidemia [HPO term]
- Increased circulating chylomicron concentration [HPO term]
- Jaundice [HPO term]
- Lactescent serum [HPO term]
- Lipemia retinalis [HPO term]
- Nausea [HPO term]
- Pancreatitis [HPO term]
- Splenomegaly [HPO term]
- Vomiting [HPO term]
Not associated HPO term(s)
- Precocious atherosclerosis [HPO term]
ORDO concept(s)
- Familial chylomicronemia syndrome [ORDO Disease]
- Familial lipoprotein lipase deficiency [ORDO Disease]
- Hyperlipoproteinemia type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hyperchylomicronemia (disorder) [SNOMED CT concept]
- Familial lipoprotein lipase deficiency [ORDO Disease]
- Familial lipoprotein lipase deficiency [ICD-11 More detail]
- Familial lipoprotein lipase deficiency (disorder) [SNOMED CT concept]
- Familial lipoprotein lipase deficiency with type I phenotype (disorder) [SNOMED CT concept]
- Fredrickson type I hyperlipoproteinemia (disorder) [SNOMED CT concept]
- Hyperchylomicronaemia [ICD-10 Sub-category (who)]
- Hyperchylomicronemia [ICD-9 code]
- Hyperchylomicronemia [MedDRA LLT]
- Hyperchylomicronemia [ICD-10 Sub-category]
- Hyperlipoproteinemia type 1 [ORDO Disease]
- Hyperlipoproteinemia, Type I [NCIt concept]
- Lipoprotein-lipase deficiency [MedDRA LLT]
- Type I hyperlipoproteinaemia [MedDRA LLT]
- Type I hyperlipoproteinemia [MedDRA LLT]
- familial lipoprotein lipase deficiency [SNOMED Notion]
- familial lipoprotein lipase deficiency [DO Concept]
- hyperlipoproteinemia type I [MeSH concept]
- hyperlipoproteinemia type i [MeSH Descriptor]

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