Norum disease: genes and variants
Norum disease is linked to 1 analyzed protein (LCAT). 7 DNA variants are known to cause it; 44 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Norum disease
LCAT: Phosphatidylcholine-sterol acyltransferase
It esterifies free cholesterol on circulating lipoproteins, allowing HDL particles to mature and participate in reverse cholesterol transport. Biallelic loss-of-function variants cause familial LCAT deficiency or fish-eye disease, with very low HDL and variable corneal, renal, and hematologic manifestations.
7 disease-causing and 44 uncertain variants in LCAT are linked to Norum disease.
Known disease-causing variants in Norum disease
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LCAT T345M | 345 | Disease-causing (★★) | |
| LCAT A166T | 166 | Disease-causing (★★) | |
| LCAT P34L | 34 | Disease-causing (★★) | |
| LCAT R123C | 123 | Disease-causing (★★) | |
| LCAT T147I | 147 | Disease-causing (★★) | |
| LCAT R171W | 171 | Disease-causing (★) | |
| LCAT R268C | 268 | Disease-causing (★) |
Same protein, different disease
- LCAT deficiency is also caused by LCAT variants; they fall mostly in different places as the Norum disease variants (10 disease-causing).
Diseases related to Norum disease
- LCAT deficiency, also linked to LCAT
- Fish-eye disease, also linked to LCAT
Frequently asked questions
Which genes are linked to Norum disease?
In CATVariant, Norum disease is linked to 1 analyzed protein: LCAT (Phosphatidylcholine-sterol acyltransferase).
How many genetic variants are linked to Norum disease?
59 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 44 are of uncertain significance or have conflicting reports.
Which uncertain variants in Norum disease look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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