familial apolipoprotein A5 deficiency

Term ID

DOID:0111421

Synonyms

• familial APOA5 deficiency
• familial apolipoprotein A-V deficiency

Definition

A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in the APOA5 gene on chromosome 11q23.3. (2)

References

• OMIM:144650
• ORDO:530849

Ontology

Human Disease   ( DOID:0111421 )