Hypercholesterolemia, familial, 4

Preferred Label : Hypercholesterolemia, familial, 4;

Symbol : FHCL4;

CISMeF acronym : ARH; ARH1; ARH2; FHCL4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ARH2; ARH1; Fhcb2; Hypercholesterolemia, autosomal recessive, 1; Fhcb1; Hypercholesterolemia, autosomal recessive, 2; ARH; Hypercholesterolemia, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1, 605747.0001);

Laboratory abnormalities : Very high low-density lipoprotein (LDL) cholesterol ( 400 mg/dL); Hypertriglyceridemia; High total cholesterol ( 600 mg/dL);

Prefixed ID : #603813;

Details

Origin ID

603813;

UMLS CUI

C1863512;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive hypercholesterolaemia [ICD-11 More detail]
- Autosomal recessive hypohidrotic ectodermal dysplasia [ORDO Disease]
- Familial hypercholesterolemia [ORDO Disease]
- job syndrome [MeSH Descriptor]
- low density lipoprotein receptor adaptor protein 1 [ORDO Gene]
- low density lipoprotein receptor adaptor protein 1 [HGNC gene]
Broader ORDO disease(s)
- Familial hypercholesterolemia [ORDO Disease]
Currated CISMeF NLP mapping
- Homozygous Familial Hypercholesterolemia [MeSH Descriptor]
- Hypercholesterolemia, Familial, 4 [NCIt concept]
- autosomal recessive hypercholesterolemia [DO Concept]
- hypercholesterolemia, autosomal recessive [MeSH concept]
- hypercholesterolemia, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive hypercholesterolemia [DO Concept]
Genes related to phenotype
- Low density lipoprotein receptor adaptor protein 1 [OMIM gene]
HPO term(s)
- Atherosclerosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hypercholesterolemia [HPO term]
- Hypertriglyceridemia [HPO term]
- Increased VLDL cholesterol concentration [HPO term]
- Tendon xanthomatosis [HPO term]
Not associated HPO term(s)
- Hyperlipidemia [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)
- Autosomal recessive hypercholesterolaemia [MedDRA LLT]
- Autosomal recessive hypercholesterolemia [MedDRA LLT]
- Hypercholesterolemia, Familial, 4 [NCIt concept]
- autosomal recessive hypercholesterolemia [DO Concept]
- hypercholesterolemia, autosomal recessive [MeSH Supplementary Concept]
- hypercholesterolemia, autosomal recessive [MeSH concept]

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