Sitosterolemia 1

Preferred Label : Sitosterolemia 1;

Symbol : STSL1;

CISMeF acronym : STSL; STSL1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : STSL; PHYTOSTEROLEMIA;

Included titles and symbols : Macrothrombocytopenia/stomatocytosis, mediterranean;

Description : Sitosterolemia, also known as phytosterolemia, is an autosomal recessive metabolic condition characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol. Patients with this disorder have very high levels of plant sterols in the plasma and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease (summary by Berge et al., 2000).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily G, member 8 gene (ABCG8, 605460.0001);

Laboratory abnormalities : Elevated plasma beta-sitosterol (sitosterolemia or phytosterolemia); Hyperapobetalipoproteinemia; Elevated plasma campesterol; Elevated plasma stigmasterol; Microsomal HMG-CoA reductase decreased; Hypercholesterolemia (elevated plasma cholesterol);

Prefixed ID : #210250;

Details

Origin ID

210250;

UMLS CUI

C2749759;

Automatic exact mappings (from CISMeF team)
- ATP binding cassette subfamily G member 5 [ORDO Gene]
- Macrothrombocytopenia-Stomatocytosis, Mediterranean [MeSH concept]
- Mediterranean macrothrombocytopenia [ORDO Disease]
Currated CISMeF NLP mapping
- Phytosterolaemia [MedDRA Preferred Term]
- Phytosterolemia [MedDRA LLT]
- Sitosterolaemia [ICD-11 More detail]
- Sitosterolaemia [MedDRA LLT]
- Sitosterolemia [NCIt concept]
- Sitosterolemia [MeSH concept]
- Sitosterolemia [ORDO Disease]
- Sitosterolemia [MedDRA LLT]
- Sitosterolemia (disorder) [SNOMED CT concept]
- sitosteolaemia [Disease (Nov.)]
- sitosterolemia [DO Concept]
- sitosterolemia [MeSH Supplementary Concept]
DO Cross reference
- sitosterolemia [DO Concept]
Genes related to phenotype
- Atp-binding cassette, subfamily g, member 8 [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Abnormal bleeding [HPO term]
- Abnormality of the integument [HPO term]
- Abnormality of the liver [HPO term]
- Arthralgia [HPO term]
- Arthritis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chronic hemolytic anemia [HPO term]
- Coronary artery atherosclerosis [HPO term]
- Elevated circulating sitosterol concentration [HPO term]
- Episodic hemolytic anemia [HPO term]
- Giant platelets [HPO term]
- Hyperapobetalipoproteinemia [HPO term]
- Hypercholesterolemia [HPO term]
- Impaired platelet aggregation [HPO term]
- Reticulocytosis [HPO term]
- Splenomegaly [HPO term]
- Stomatocytosis [HPO term]
- Tuberous xanthoma [HPO term]
ORDO concept(s)
- Mediterranean macrothrombocytopenia [ORDO Disease]
- Sitosterolemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Macrothrombocytopenia-Stomatocytosis, Mediterranean [MeSH concept]
- Phytosterolaemia [MedDRA Preferred Term]
- Phytosterolemia [MedDRA LLT]
- Pseudohomozygous familial hypercholesterolaemia [MedDRA LLT]
- Pseudohomozygous familial hypercholesterolemia [MedDRA LLT]
- Sitosterolaemia [MedDRA LLT]
- Sitosterolaemia [ICD-11 More detail]
- Sitosterolemia [MedDRA LLT]
- Sitosterolemia [ORDO Disease]
- Sitosterolemia [MeSH concept]
- Sitosterolemia [NCIt concept]
- Sitosterolemia (disorder) [SNOMED CT concept]
- sitosteolaemia [Disease (Nov.)]
- sitosterolemia [MeSH Supplementary Concept]
- sitosterolemia [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients