Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Findings
No curated finding names Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.
Definition from the Mondo Disease Ontology (MONDO:0009268), read 2026-09-29. CC BY 4.0.
Features
57 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aortic valve calcificationHPOHP:0004380
- Frequent (30% to 79% of cases)
- Calcification of the aortaHPOHP:0004963
- Frequent (30% to 79% of cases)
- Corneal opacityHPOHP:0007957
- Frequent (30% to 79% of cases)
- Decreased beta-glucocerebrosidase levelHPOHP:0003656
- Frequent (30% to 79% of cases)
- Elevated circulating glucosylsphingosine concentrationHPOHP:6001185
- Frequent (30% to 79% of cases)
- HepatosplenomegalyHPOHP:0001433
- Frequent (30% to 79% of cases)
- Mitral valve calcificationHPOHP:0004382
- Frequent (30% to 79% of cases)
- ThrombocytopeniaHPOHP:0001873
- Frequent (30% to 79% of cases)
- AnemiaHPOHP:0001903
- Occasional (5% to 29% of cases)
- Aortic valve stenosisHPOHP:0001650
- Occasional (5% to 29% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Occasional (5% to 29% of cases)
- Gait disturbanceHPOHP:0001288
- Occasional (5% to 29% of cases)
Show the remaining 45
- Growth delayHPOHP:0001510
- Occasional (5% to 29% of cases)
- Hallux valgusHPOHP:0001822
- Occasional (5% to 29% of cases)
- HeadacheHPOHP:0002315
- Occasional (5% to 29% of cases)
- HydrocephalusHPOHP:0000238
- Occasional (5% to 29% of cases)
- HyperreflexiaHPOHP:0001347
- Occasional (5% to 29% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GBA1HGNC:4177
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- Also called
- cardiovascular Gaucher diseaseGaucher disease type 3CGaucher-like disease