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IEMbase 0509: LPA-related elevated lipoprotein(a)

Scope

Field Value
IEMbase ID 509
Nosology 15.6.31.01
Gene LPA
External IDs OMIM:152200; ORPHA:250831
Generated mapping UNMAPPED; best candidate Tangier_Disease.yaml
Candidate DisMech targets No exact local target found
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents this as LPA-related elevated lipoprotein(a). No treatments are listed. The biochemical rows are highly specific for the lipid trait: normal-to-increased serum cholesterol, normal HDL cholesterol, normal serum triglycerides, and very increased plasma lipoprotein(a) across age groups.

The clinical rows are adult vascular disease: carotid artery disease, coronary artery disease, and myocardial ischemia.

DisMech phenotype coverage

No exact local target was found for LPA-related elevated lipoprotein(a). Tangier_Disease.yaml is not a valid target: it models ABCA1-related HDL biogenesis and cholesterol-efflux failure with very low or absent HDL, orange tonsils, hepatosplenomegaly, and neuropathy. That is the opposite biochemical direction from this IEMbase profile, where HDL is normal and lipoprotein(a) is the isolated striking abnormality.

Hyperlipidemia.yaml, Familial_Hypercholesterolemia.yaml, Heart_Failure.yaml, and Peripheral_Artery_Disease.yaml provide broad lipid or vascular context, including atherogenic lipoprotein and coronary disease mechanisms, but they do not model LPA gene dosage/isoform biology, isolated high lipoprotein(a), or LPA-related elevated lipoprotein(a) as a distinct inherited lipid disorder.

Concordance and completeness

Judgement: true local gap.

IEMbase is not simply describing general hypercholesterolemia. The defining signal is very increased plasma lipoprotein(a) with normal HDL and triglycerides and adult atherosclerotic outcomes. No local DisMech entry captures that exact gene-trait-disease entity.

Curation actions

  • Track LPA-related elevated lipoprotein(a) as a local lipid-disorder gap.
  • Reject Tangier_Disease.yaml as a false candidate driven by lipoprotein vocabulary overlap.
  • If curated, seed the future entry with plasma lipoprotein(a), normal HDL and triglyceride contrast, carotid/coronary artery disease, myocardial ischemia, and links to vascular-disease mechanism context rather than substituting those context entries as the disease itself.