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Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Frontotemporal dementia with motor neuron disease
3 OMIM references -
3 associated genes
No signs/symptoms info
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Frontotemporal dementia with motor neuron disease

DYNC1H1
(UniProt - OMIM)
 C9ORF72
(UniProt - OMIM)
FUS
(UniProt - OMIM)
TARDBP
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
DYNC1H1
(0.49)
FUS


Citations in the biomedical literature:


Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
DYNC1H1
Frontotemporal dementia with motor neuron disease
C9ORF72 FUS TARDBP



Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Frontotemporal dementia with motor neuron disease

Synonym(s):
- Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures
- SMALED1
Synonym(s):
- FTD-ALS
- FTD-MND
- Frontotemporal dementia with amyotrophic lateral sclerosis
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):
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
No MeSH references
No signs/symptoms info available.