Hypercholesterolemia, familial, 3

Preferred Label : Hypercholesterolemia, familial, 3;

Symbol : FHCL3;

CISMeF acronym : FH3; HCHOLA3; LDLCQ1; FHCL3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FH3; Hypercholesterolemia, autosomal dominant, 3; HCHOLA3;

Included titles and symbols : Low density lipoprotein cholesterol level quantitative trait locus 1; LDLCQ1;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the proprotein convertase, subtilisin/kexin-type, 9 gene (PCSK9, 607786.0001);

Laboratory abnormalities : High total cholesterol High LD cholesterol;

Prefixed ID : #603776;

Details

Origin ID

603776;

UMLS CUI

C1863551;

Automatic exact mappings (from CISMeF team)
- Familial hyperaldosteronism type III [ORDO Disease]
- Familial hypercholesterolemia [ORDO Disease]
- PCSK9 wt Allele [NCIt concept]
- proprotein convertase subtilisin/kexin type 9 [ORDO Gene]
Broader ORDO disease(s)
- Familial hypercholesterolemia [ORDO Disease]
Currated CISMeF NLP mapping
- hypercholesterolemia, autosomal dominant, 3 [MeSH concept]
- hypercholesterolemia, autosomal dominant, 3 [MeSH Supplementary Concept]
Genes related to phenotype
- Proprotein convertase, subtilisin/kexin-type, 9 [OMIM gene]
HPO term(s)
- Abnormal LDL cholesterol concentration [HPO term]
- Autosomal dominant inheritance [HPO term]
- Corneal arcus [HPO term]
- Hypercholesterolemia [HPO term]
- Tendon xanthomatosis [HPO term]
- Xanthelasma [HPO term]
ORDO concept(s)
- Familial hypercholesterolemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypercholesterolemia, autosomal dominant, 3 [MeSH Supplementary Concept]
- hypercholesterolemia, autosomal dominant, 3 [MeSH concept]

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