Features include always present findings: Decreased lecithin cholesterol acyl transferase level, Corneal arcus, and Protein in the urine (proteinuria). 9 total HPO annotations.

LCAT encodes lecithin-cholesterol acyltransferase (440 aa). Central enzyme in the extracellular metabolism of plasma lipoproteins. Highest expression in Liver (117.3 TPM) and Brain Cerebellum (88.0 TPM).

Norum disease is associated with mutations in the LCAT gene on chromosome 16.

The LCAT protein participates in PLA2G15 hydrolyses LPC to GPCho and LCFA(-) and cholesterol + phosphatidylcholine (lecithin) = cholesterol ester + 2-lysophosphatidylcholine (lysolecithin) pathways.

LCAT is classified as a druggable target (Druggable Genome, Enzyme, and Transporter categories) with score 20.9.

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

Biomarker and diagnostic research for Norum disease has been reported in the published literature.

No approved treatments are currently available for Norum disease. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for Norum disease, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for Norum disease. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Phenotype severity distribution: 3 always present features.

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

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

21 publications have been identified in PubMed for Norum disease. Research spans Case Report / Case Series (57%), Other (10%), and Review / Meta-Analysis (10%).