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Gaucher disease - ophthalmoplegia - cardiovascular calcification
1 OMIM reference -
1 associated gene
16 connected diseases
13 signs/symptoms
Disease Type of connection
Young adult-onset Parkinsonism
Fetal Gaucher disease
Gaucher disease type 1
Gaucher disease type 2
Gaucher disease type 3
Parkinsonian-pyramidal syndrome
Atypical Gaucher disease due to saposin C deficiency
Autosomal recessive distal renal tubular acidosis with deafness
Encephalopathy due to prosaposin deficiency
Infantile Krabbe disease
Juvenile myelomonocytic leukemia
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, late infantile form
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Syndromic multisystem autoimmune disease due to Itch deficiency
Synonym(s):
- Cardiovascular Gaucher disease
- Gaucher disease type 3C
- Gaucher-like disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GBA P04062606463
Very frequent
- Abnormal eye movements / oculomotor disorder
- Aortic arches anomalies
- Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis
- Autosomal recessive inheritance
- Cardiac valvulopathy
- Mitral valve atresia / stenosis / narrowing
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Splenomegaly

Frequent
- Hearing loss / hypoacusia / deafness
- Hydrocephaly
- Hypertonia / spasticity / rigidity / stiffness
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Heart / cardiac failure