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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Adult-onset proximal spinal muscular atrophy, autosomal dominant
DDOST-CDG

VAPB DDOST


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VAPB
(0.63)
DDOST



Citations in the biomedical literature:


Adult-onset proximal spinal muscular atrophy, autosomal dominant
VAPB
DDOST-CDG
DDOST



Adult-onset proximal spinal muscular atrophy, autosomal dominant
DDOST-CDG

Synonym(s):
- Finkel disease

Synonym(s):
- CDG syndrome type Ir
- CDG-Ir
- CDG1R
- Carbohydrate deficient glycoprotein syndrome type Ir
- Congenital disorder of glycosylation type 1r
- Congenital disorder of glycosylation type Ir

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: unknown

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.