Cytoscape Web
Click node...

Isolated delta-storage pool disease
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
1 OMIM reference -
1 associated gene
No signs/symptoms info
Isolated delta-storage pool disease
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss

FLI1
(UniProt - OMIM)
 ATP1A3
(UniProt - OMIM)
RUNX1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
FLI1
(0.63)
ATP1A3


Citations in the biomedical literature:


Isolated delta-storage pool disease
FLI1 RUNX1
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
ATP1A3



Isolated delta-storage pool disease
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss

Synonym(s):
- Isolated delta-SPD
- Isolated dense-SPD
- Isolated dense-storage pool disease
Synonym(s):
- CAPOS syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
(no data available)
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.