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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
Autosomal recessive systemic lupus erythematosus
1 OMIM reference -
2 associated genes
No signs/symptoms info
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal recessive systemic lupus erythematosus

DYNC1H1
(UniProt - OMIM)
 DNASE1L3
(UniProt - OMIM)
PRKCD
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
DYNC1H1
(0.56)
PRKCD


Citations in the biomedical literature:


Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
DYNC1H1
Autosomal recessive systemic lupus erythematosus
DNASE1L3 PRKCD



Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal recessive systemic lupus erythematosus

Synonym(s):
- Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures
- SMALED1
Synonym(s):
- Autosomal recessive SLE
- Familial SLE
- Familial systemic lupus erythematosus
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
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: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.