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Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Distal hereditary motor neuropathy type 7
2 OMIM references -
2 associated genes
No signs/symptoms info
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Distal hereditary motor neuropathy type 7

BICD2
(UniProt - OMIM)
 DCTN1
(UniProt - OMIM)
SLC5A7
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
BICD2
(0.76)
DCTN1


Citations in the biomedical literature:


Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
BICD2
Distal hereditary motor neuropathy type 7
DCTN1 SLC5A7



Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Distal hereditary motor neuropathy type 7

Synonym(s):
- Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures
- SMALED2
Synonym(s):
- Distal spinal muscular atrophy with vocal cord paralysis
- dHMN7
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -
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:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references
No signs/symptoms info available.