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familial apolipoprotein C-II deficiency
Summary
- Synonym
-
- C-II anapolipoproteinemia
- familial APOC2 deficiency
- familial apoC-II deficiency
- hyperlipoproteinemia, type 1b
- hyperlipoproteinemia, type Ib
- Definition
- A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32.
- Super Class
- autosomal recessive disease familial chylomicronemia syndrome
External Links
- Disease Ontology
- DOID:0111418
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- WikiPathways (from TogoID)
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P02655 | Apolipoprotein C-II |
