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familial GPIHBP1 deficiency
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease familial chylomicronemia syndrome
External Links
- Disease Ontology
- DOID:0111420
- Mondo Disease Ontology
- ORDO
- OMIM
- WikiPathways (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0010980 | Hyperlipoproteinemia |
| HP:0001733 | Pancreatitis |
| HP:0012238 | Increased circulating chylomicron concentration |
| HP:0002155 | Hypertriglyceridemia |
| HP:0001013 | Eruptive xanthomas |
| HP:0003563 | Decreased LDL cholesterol concentration |
