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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8IV16 | Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002240 | Hepatomegaly |
| HP:0100027 | Recurrent pancreatitis |
| HP:0001508 | Failure to thrive |
| HP:0005181 | Premature coronary artery atherosclerosis |
| HP:0000660 | Lipemia retinalis |
| HP:0003233 | Decreased HDL cholesterol concentration |
| HP:0011463 | Childhood onset |
| HP:0001744 | Splenomegaly |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002583 | Colitis |
