Chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase

Summary

Chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase (MONDO:0007327) is a disease. A subtype of familial chylomicronemia syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase
Mondo ID	MONDO:0007327
MeSH	C566126
OMIM	118830
DOID	DOID:0111419
UMLS	C1861560
MedGen	348391
GARD	0024550
Is cancer (heuristic)	no

Also known as: chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase

Disease family

This is a subtype of familial chylomicronemia syndrome. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › syndromic disease › familial chylomicronemia syndrome › chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase

Related subtypes (4): familial apolipoprotein C-II deficiency, familial lipoprotein lipase deficiency, lipase deficiency, combined, hyperlipoproteinemia, type 1D

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.