Details of Disease

General Information of Disease (ID: DISP9UAV)

Disease Name Cholesterol-ester transfer protein deficiency
Synonyms
CETP deficiency; high density lipoprotein cholesterol level quantitative trait locus 10; Hdlcq10; HALP1; cholesterol ester transfer Protein deficiency; hyperalphalipoproteinemia; familial hyperalphalipoproteinemia; hyperalphalipoproteinemia type 1; CEPT deficiency; hyperalphalipoproteinemia 1; high density lipoprotein cholesterol level QTL 10
Disease Hierarchy
DISPUX00: Hyperalphalipoproteinemia
DIS4R2OG: Hyperlipidaemia
DISP9UAV: Cholesterol-ester transfer protein deficiency
Disease Identifiers
MONDO ID
MONDO_0007744
UMLS CUI
C3875011
MedGen ID
840020
Orphanet ID
79506
SNOMED CT ID
1.58E+13

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
APOC3 TTXOZQ1 Supportive Autosomal dominant [1]
CETP TTFQAYR Strong Autosomal dominant [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
APOC3 OTW3520C Supportive Autosomal dominant [1]
CETP OTAGPPOE Strong Autosomal dominant [2]
JPH3 OTHTJO2I Strong Biomarker [3]
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References

1 Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. J Clin Invest. 1991 May;87(5):1724-31. doi: 10.1172/JCI115190.
2 Letter: Jimson weed seeds. Ann Intern Med. 1975 Dec;83(6):905. doi: 10.7326/0003-4819-83-6-905_1.
3 Composition of HDL-2 and HDL-3 in familial hyperalphalipoproteinemia.Atherosclerosis. 1976 Oct;25(1):131-6. doi: 10.1016/0021-9150(76)90055-1.