Cytoscape Web
Click node...

Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Renal-hepatic-pancreatic dysplasia
2 OMIM references -
2 associated genes
No signs/symptoms info
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Renal-hepatic-pancreatic dysplasia

BICD2
(UniProt - OMIM)
 NEK8
(UniProt - OMIM)
NPHP3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
BICD2
(0.77)
NEK8


Citations in the biomedical literature:


Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
BICD2
Renal-hepatic-pancreatic dysplasia
NEK8 NPHP3



Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Renal-hepatic-pancreatic dysplasia

Synonym(s):
- Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures
- SMALED2
Synonym(s):
- Ivemark II syndrome
- Renohepaticopancreatic dysplasia
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(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
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references
No signs/symptoms info available.