Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome: genes and variants
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome is linked to 1 analyzed protein (GBA1). 3 DNA variants are known to cause it; 13 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 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
GBA1: Lysosomal acid glucosylceramidase
It degrades glucosylceramide within lysosomes and is essential for normal sphingolipid turnover. Biallelic pathogenic variants cause Gaucher disease, while heterozygous pathogenic variants are among the strongest genetic risk factors for Parkinson disease.
3 disease-causing and 13 uncertain variants in GBA1 are linked to Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome.
Known disease-causing variants in Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GBA1 R502H | 502 | Disease-causing (★★) | |
| GBA1 F255Y | 255 | Disease-causing (★★) | |
| GBA1 S235P | 235 | Disease-causing (★★) |
Same protein, different disease
- Gaucher disease is also caused by GBA1 variants; they fall mostly in different places as the Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome variants (132 disease-causing).
- Parkinson disease, late-onset is also caused by GBA1 variants; they fall mostly in different places as the Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome variants (8 disease-causing).
- Lewy body dementia is also caused by GBA1 variants; they fall mostly in different places as the Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome variants (6 disease-causing).
- Gaucher disease perinatal lethal is also caused by GBA1 variants; they fall mostly in different places as the Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome variants (5 disease-causing).
Diseases related to Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- Gaucher disease, also linked to GBA1
- Lewy body dementia, also linked to GBA1
- Parkinson disease, late-onset, also linked to GBA1
- Gaucher disease perinatal lethal, also linked to GBA1
- Parkinson disease, also linked to GBA1
Frequently asked questions
Which genes are linked to Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome?
In CATVariant, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome is linked to 1 analyzed protein: GBA1 (Lysosomal acid glucosylceramidase).
How many genetic variants are linked to Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome?
17 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 13 are of uncertain significance or have conflicting reports.
Which uncertain variants in Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 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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