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GTR Home > Conditions/Phenotypes > Hyperlipoproteinemia, type 1D

Hyperlipoproteinemia, type 1D

Synonyms
Hyperlipoproteinemia, type ID
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Hyperlipoproteinemia type ID is a rare autosomal recessive disorder characterized by impaired clearance of triglyceride (TG)-rich lipoproteins in plasma, leading to severe hypertriglyceridemia (chylomicronemia). Clinical features include eruptive xanthomas, lipemia retinalis, hepatosplenomegaly, episodes of abdominal pain, and pancreatitis. Onset usually occurs in adulthood (summary by Brahm and Hegele, 2013). For a discussion of genetic heterogeneity of familial chylomicronemia, see 238600. [from OMIM]

Available tests

19 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GPI-HBP1, HYPL1D, GPIHBP1
    Summary: glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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