HALP2
MCID: APL024
MIFTS: 32
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Apolipoprotein C-Iii Deficiency (HALP2)
Categories:
Genetic diseases, Metabolic diseases
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MalaCards integrated aliases for Apolipoprotein C-Iii Deficiency:
Classifications: |
Disease Ontology :
12
A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has material basis in heterozygous mutation in APOC3 on chromosome 11q23.3.
MalaCards based summary : Apolipoprotein C-Iii Deficiency, also known as hyperalphalipoproteinemia 2, is related to hyperlipoproteinemia, type i and familial lipoprotein lipase deficiency. An important gene associated with Apolipoprotein C-Iii Deficiency is APOC3 (Apolipoprotein C3), and among its related pathways/superpathways are Lipoprotein metabolism and Statin Pathway. Affiliated tissues include small intestine, and related phenotypes are decreased ldl cholesterol concentration and hypotriglyceridemia UniProtKB/Swiss-Prot : 73 Hyperalphalipoproteinemia 2: A condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels. Wikipedia : 74 Apolipoprotein C-III also known as apo-CIII, and apolipoprotein C3, is a protein that in humans is... more...
More information from OMIM:
614028
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Diseases related to Apolipoprotein C-Iii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:(show all 15)
Graphical network of the top 20 diseases related to Apolipoprotein C-Iii Deficiency:![]() |
Human phenotypes related to Apolipoprotein C-Iii Deficiency:31
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MalaCards organs/tissues related to Apolipoprotein C-Iii Deficiency:40
Small Intestine
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Articles related to Apolipoprotein C-Iii Deficiency:
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ClinVar genetic disease variations for Apolipoprotein C-Iii Deficiency:6
UniProtKB/Swiss-Prot genetic disease variations for Apolipoprotein C-Iii Deficiency:73
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Search
GEO
for disease gene expression data for Apolipoprotein C-Iii Deficiency.
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Cellular components related to Apolipoprotein C-Iii Deficiency according to GeneCards Suite gene sharing:
Biological processes related to Apolipoprotein C-Iii Deficiency according to GeneCards Suite gene sharing:(show all 11)
Molecular functions related to Apolipoprotein C-Iii Deficiency according to GeneCards Suite gene sharing:
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