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Atypical Gaucher disease due to saposin C deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Parkinsonian-pyramidal syndrome
2 OMIM references -
2 associated genes
No signs/symptoms info
Atypical Gaucher disease due to saposin C deficiency
Parkinsonian-pyramidal syndrome

PSAP
(UniProt - OMIM)
 FBXO7
(UniProt - OMIM)
SNCA
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PSAP
(0.49)
SNCA


Citations in the biomedical literature:


Atypical Gaucher disease due to saposin C deficiency
PSAP
Parkinsonian-pyramidal syndrome
FBXO7 SNCA



Atypical Gaucher disease due to saposin C deficiency
Parkinsonian-pyramidal syndrome

Synonym(s):
(no synonyms)

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