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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Adult-onset distal myopathy due to VCP mutation
GM1 gangliosidosis type 1

VCP GLB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
(0.63)
GLB1



Citations in the biomedical literature:


Adult-onset distal myopathy due to VCP mutation
VCP
GM1 gangliosidosis type 1
GLB1



Adult-onset distal myopathy due to VCP mutation
GM1 gangliosidosis type 1

Synonym(s):
(no synonyms)

Synonym(s):
- Infantile GM1 gangliosidosis
- Norman-Landing disease

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.