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Fetal Gaucher disease
1 OMIM reference -
1 associated gene
16 connected diseases
16 signs/symptoms
Disease Type of connection
Young adult-onset Parkinsonism
Gaucher disease - ophthalmoplegia - cardiovascular calcification
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):
- Perinatal lethal Gaucher disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GBA P04062606463
Very frequent
- Death in infancy
- Hydrops fetalis
- Ichthyosis / ichthyosiform dermatitis
- Intracranial / cerebral / meningeal hemorrhage
- Stillbirth / neonatal death
- Thrombocytopenia / thrombopenia

Frequent
- Depressed nasal bridge
- Ectropion / entropion / eyelid eversion
- Hepatomegaly / liver enlargement (excluding storage disease)
- High vaulted / narrow palate
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Low set ears / posteriorly rotated ears
- Seizures / epilepsy / absences / spasms / status epilepticus
- Splenomegaly
- Structural and functional anomalies of the spleen