Features include always present findings: Lipemia retinalis, Hypertriglyceridemia, Low HDL ("good") cholesterol (decreased hdl cholesterol concentration), and Decreased LDL cholesterol concentration and others; and common findings: Premature coronary artery atherosclerosis. 14 total HPO annotations.

GPIHBP1 encodes glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 (184 aa). Mediates the transport of lipoprotein lipase LPL from the basolateral to the apical surface of endothelial cells in capillaries. Highest expression in Breast Mammary Tissue (86.7 TPM) and Adipose Subcutaneous (86.5 TPM).

Hyperlipoproteinemia, type 1D is associated with mutations in the GPIHBP1 gene on chromosome 8.

GPIHBP1 is classified as a druggable target (Cell Surface, Druggable Genome, and External Side Of Plasma Membrane categories) with score 0.0.

Genetic testing for GPIHBP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hyperlipoproteinemia, type 1D has been reported in the published literature.

Phenotype severity distribution: 9 always present features, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for hyperlipoproteinemia, type 1D.

34 publications have been identified in PubMed for hyperlipoproteinemia, type 1D. Research spans Epidemiology / Natural History (32%), Review / Meta-Analysis (21%), and Clinical Trial Publication (18%).