familial apolipoprotein C-II deficiency

Term ID

DOID:0111418

Synonyms

• C-II anapolipoproteinemia
• familial apoC-II deficiency
• familial APOC2 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. https://www.ncbi.nlm.nih.gov/pubmed/3467353

References

• MESH:D008072
• OMIM:207750
• ORDO:309020
• SNOMEDCT_US_2023_03_01:33513003
• UMLS_CUI:C0268199
• UMLS_CUI:C1720779

Ontology

Human Disease   ( DOID:0111418 )