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Cervical spina bifida aperta
6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Glycogen storage disease due to acid maltase deficiency, infantile onset
1 associated gene
No signs/symptoms info
Cervical spina bifida aperta
Glycogen storage disease due to acid maltase deficiency, infantile onset

FUZ
(UniProt - OMIM)
 GAA
(UniProt - OMIM)
MTHFD1
(UniProt - OMIM)
MTHFR
(UniProt - OMIM)
T
(UniProt - OMIM)
VANGL1
(UniProt - OMIM)
VANGL2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MTHFD1
(0.49)
GAA


Citations in the biomedical literature:


Cervical spina bifida aperta
FUZ MTHFD1 MTHFR T VANGL1 VANGL2

Glycogen storage disease due to acid maltase deficiency, infantile onset
GAA



Cervical spina bifida aperta
Glycogen storage disease due to acid maltase deficiency, infantile onset

Synonym(s):
(no synonyms)

Synonym(s):
- Alpha-1,4-glucosidase acid deficiency, infantile onset
- GSD due to acid maltase deficiency, infantile onset
- GSD type 2, infantile onset
- Glycogen storage disease type 2, infantile onset
- Glycogenosis due to acid maltase deficiency, infantile onset
- Glycogenosis type 2, infantile onset
- Pompe disease, infantile onset
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.