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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
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

DYNC1H1
(UniProt - OMIM)
 IKBKG
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
DYNC1H1
(0.72)
IKBKG


Citations in the biomedical literature:


Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
DYNC1H1
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
IKBKG



Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

Synonym(s):
- Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures
- SMALED1
Synonym(s):
- X-linked MSMD due to IKBKG deficiency
- X-linked MSMD due to NEMO deficiency
- X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.