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6 associated genes
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Upper thoracic spina bifida aperta
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

FUZ MTHFR
MTHFD1
MTHFR
T
VANGL1
VANGL2


COMMON
GENES
MTHFR



Citations in the biomedical literature:


Upper thoracic spina bifida aperta
FUZ MTHFD1 MTHFR T VANGL1 VANGL2

Homocystinuria due to methylene tetrahydrofolate reductase deficiency



Upper thoracic spina bifida aperta
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- MTHFR deficiency
- Methylene tetrahydrofolate reductase deficiency

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic 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:
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.