familial GPIHBP1 deficiency

Term ID

DOID:0111420

Synonyms

• familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency
• hyperlipoproteinemia type 1D
• hyperlipoproteinemia type ID

Definition

A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3. (2)

References

• OMIM:615947
• ORDO:535458

Ontology

Human Disease   ( DOID:0111420 )