Hypercholesterolemia, familial, 1

Preferred Label : Hypercholesterolemia, familial, 1;

Symbol : FHCL1;

CISMeF acronym : FHC; FH; LDLCQ2; FHCL1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ldl receptor disorder; Hyperlipoproteinemia, type II; Hyperlipoproteinemia, type iia; Hypercholesterolemic xanthomatosis, familial; Fhc; FH; HYPER-LOW-DENSITY-LIPOPROTEINEMIA;

Included titles and symbols : Low density lipoprotein cholesterol level quantitative trait locus 2; LDLCQ2;

Description : Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (LDL).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the low density lipoprotein receptor gene (LDLR, 143890.0001);

Laboratory abnormalities : Hypercholesterolemia, 350-550 mg/L in heterozygotes, 650-1000 mg/L in homozygotes;

Prefixed ID : #143890;

Details

Origin ID

143890;

UMLS CUI

C0745103;

Automatic exact mappings (from CISMeF team)
- CFH wt Allele [NCIt concept]
- FH Gene [NCIt concept]
- Familial hyperaldosteronism [ORDO Disease]
- Family history with explicit context (situation) [SNOMED CT concept]
- Fumarate Hydratase, Mitochondrial [NCIt concept]
- Hyperlipoproteinemia, Type IIa [NCIt concept]
- LDLR wt Allele [NCIt concept]
- MYBPC3 wt Allele [NCIt concept]
- Pure hypercholesterolaemia [ICD-10 Sub-category (who)]
- Type IIa hyperlipoproteinaemia [MedDRA LLT]
- Type IIa hyperlipoproteinemia [MedDRA LLT]
- ferritin heavy chain 1 [ORDO Gene]
- fumarate hydratase [ORDO Gene]
- hyperlipoproteinemia type IIa [MeSH concept]
- hyperlipoproteinemia type i [MeSH Descriptor]
- hyperlipoproteinemia type iii [MeSH Descriptor]
- hyperlipoproteinemia type v [MeSH Descriptor]
- low density lipoprotein receptor [ORDO Gene]
- myosin binding protein C3 [ORDO Gene]
Currated CISMeF NLP mapping
- Familial hypercholesterolaemia [ICD-11 More detail]
- Familial hypercholesterolaemia [MedDRA LLT]
- Familial hypercholesterolemia [ORDO Disease]
- Familial hypercholesterolemia [MedDRA LLT]
- Familial hypercholesterolemia (disorder) [SNOMED CT concept]
- Hyperlipoproteinemia Type II [NCIt concept]
- Hyperlipoproteinemia, Type II [NCIt concept]
- Type II hyperlipidaemia [MedDRA Preferred Term]
- Type II hyperlipidemia [MedDRA LLT]
- Type II hyperlipoproteinaemia [MedDRA LLT]
- Type II hyperlipoproteinemia [MedDRA LLT]
- familial hypercholesterolemia [DO Concept]
- familial hypercholesterolemia [SNOMED Notion]
- familial hypercholestrolemia [Blood Transfusion thesaurus concept]
- high serum cholesterol, familial [MeSH Supplementary Concept]
- high serum cholesterol, familial [MeSH concept]
- hyperlipoproteinemia type II [Disease (Nov.)]
- hyperlipoproteinemia type II [MeSH concept]
- hyperlipoproteinemia type ii [MeSH Descriptor]
DO Cross reference
- familial hypercholesterolemia [DO Concept]
Genes related to phenotype
- Epoxide hydrolase 2, cytosolic [OMIM gene]
- Growth hormone receptor [OMIM gene]
- Low density lipoprotein receptor [OMIM gene]
- Protein phosphatase 1 regulatory subunit 17 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Corneal arcus [HPO term]
- Coronary artery atherosclerosis [HPO term]
- Coronary artery disease presenting after age 30 years in heterozygotes, in childhood in homozygotes [HPO term]
- Increased LDL cholesterol concentration [HPO term]
- Tendon xanthomatosis [HPO term]
- Xanthelasma [HPO term]
ORDO concept(s)
- Familial hypercholesterolemia [ORDO Disease]
- Homozygous familial hypercholesterolemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fredrickson Type IIa hyperlipidaemia [MedDRA LLT]
- Fredrickson Type IIa hyperlipidemia [MedDRA LLT]
- Fredrickson Type IIa hyperlipoproteinaemia [MedDRA LLT]
- Fredrickson Type IIa hyperlipoproteinemia [MedDRA LLT]
- Fredrickson Type IIa lipidaemia [MedDRA LLT]
- Fredrickson Type IIa lipidemia [MedDRA LLT]
- Fredrickson type IIa hyperlipoproteinemia (disorder) [SNOMED CT concept]
- Hyperlipoproteinemia, Type IIa [NCIt concept]
- Type IIa hyperlipidaemia [MedDRA Preferred Term]
- Type IIa hyperlipidemia [MedDRA LLT]
- Type IIa hyperlipoproteinaemia [MedDRA LLT]
- Type IIa hyperlipoproteinemia [MedDRA LLT]
- hyperlipoproteinemia type IIa [MeSH concept]
- hyperlipoproteinemia type IIa [Disease (Nov.)]
Validated automatic mappings to BTNT
- hyperlipoproteinemia type IIa [Disease (Nov.)]

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