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
Disease Ontology
DOID:0111420
Mondo Disease Ontology
ORDO
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
338328 GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
68453 Gpihbp1 GPI-anchored HDL-binding protein 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 16 in total
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
Displaying 1 entry
Gene ID Gene Symbol Description
338328 GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024