Details of Disease

General Information of Disease (ID: DISTCQGB)

Disease Name Sitosterolemia
Synonyms
macrothrombocytopenia/stomatocytosis, Mediterranean; STSL; plant sterol storage disease; retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body; sitosterolemia; phytosterolemia
Definition
A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.
Disease Hierarchy
DISPGGVL: Syndromic dyslipidemia
DISTCQGB: Sitosterolemia
Disease Identifiers
MONDO ID
MONDO_0008863
MESH ID
C537345
UMLS CUI
C0342907
MedGen ID
87466
Orphanet ID
2882
SNOMED CT ID
238104009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NPC1L1 TTPD1CN Strong Genetic Variation [1]
ABCG5 TTKZ7WY Definitive Autosomal recessive [2]
------------------------------------------------------------------------------------
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ABCG5 OT1OMY93 Definitive Autosomal recessive [2]
ABCG8 OTIJ76XW Definitive Autosomal recessive [2]
------------------------------------------------------------------------------------

References

1 Potential effects of NPC1L1 polymorphisms in protecting against clinical disease in a chinese family with sitosterolaemia.J Atheroscler Thromb. 2014;21(9):989-95. doi: 10.5551/jat.24679. Epub 2014 Jul 24.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.