Sitosterolemia 2

Preferred Label : Sitosterolemia 2;

Symbol : STSL2;

CISMeF acronym : STSL2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily G, member 5 gene (ABCG5, 605459.0001);

Laboratory abnormalities : Elevated plasma campesterol; Elevated plasma beta-sitosterol (sitosterolemia); Elevated plasma stigmasterol; Hyperbilirubinemia, mild; Hypercholesterolemia (variable);

Prefixed ID : #618666;

Details

Origin ID

618666;

UMLS CUI

C5231453;

Genes related to phenotype
- Atp-binding cassette, subfamily g, member 5 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Elevated circulating sitosterol concentration [HPO term]
- Hypercholesterolemia [HPO term]
- Premature coronary artery atherosclerosis [HPO term]
- Tendon xanthomatosis [HPO term]
ORDO concept(s)
- Sitosterolemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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