Details of Disease

General Information of Disease (ID: DIS6KXVS)

Disease Name Xanthomatosis
Synonyms xanthomatosis (disease); xanthomatosis; xanthelasmatosis
Definition
A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells.
Disease Hierarchy
DISXQRTX: Lysosomal lipid storage disorder
DIS6KXVS: Xanthomatosis
Disease Identifiers
MONDO ID
MONDO_0002615
MESH ID
D014973
UMLS CUI
C0043325
MedGen ID
21939
HPO ID
HP:0000991
SNOMED CT ID
63103006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
LDLR TTH0DUS Limited Genetic Variation [1]
ACAT1 TTK3C21 moderate Biomarker [2]
PCSK9 TTNIZ2B moderate Genetic Variation [3]
ABCG5 TTKZ7WY Strong Biomarker [4]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
APOC2 OTLINYIQ Strong Biomarker [5]
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References

1 Severe xanthomatosis in heterozygous familial hypercholesterolemia.J Clin Lipidol. 2018 Jul-Aug;12(4):872-877. doi: 10.1016/j.jacl.2018.03.087. Epub 2018 Apr 3.
2 Inflammasome Activation Aggravates Cutaneous Xanthomatosis and Atherosclerosis in ACAT1 (Acyl-CoA Cholesterol Acyltransferase 1) Deficiency in Bone Marrow.Arterioscler Thromb Vasc Biol. 2018 Nov;38(11):2576-2589. doi: 10.1161/ATVBAHA.118.311648.
3 PCSK9 R46L, lower LDL, and cardiovascular disease risk in familial hypercholesterolemia: a cross-sectional cohort study.Arterioscler Thromb Vasc Biol. 2014 Dec;34(12):2700-5. doi: 10.1161/ATVBAHA.114.304406. Epub 2014 Oct 2.
4 Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. Nat Genet. 2001 Jan;27(1):79-83. doi: 10.1038/83799.
5 A variant primary structure of apolipoprotein C-II in individuals of African descent.J Clin Invest. 1986 Feb;77(2):595-601. doi: 10.1172/JCI112342.