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Parkinsonian-pyramidal syndrome
2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Fetal Gaucher disease
1 OMIM reference -
1 associated gene
16 signs/symptoms
Parkinsonian-pyramidal syndrome
Fetal Gaucher disease

FBXO7
(UniProt - OMIM)
 GBA
(UniProt - OMIM)
SNCA
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SNCA
(0.68)
GBA


Citations in the biomedical literature:


Parkinsonian-pyramidal syndrome
FBXO7 SNCA
Fetal Gaucher disease
GBA



Parkinsonian-pyramidal syndrome
Fetal Gaucher disease

Synonym(s):
- Pallidopyramidal syndrome
Synonym(s):
- Perinatal lethal Gaucher disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: -
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Fetal Gaucher disease

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



Parkinsonian-pyramidal syndrome

(no data available)