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Homocystinuria due to methylene tetrahydrofolate reductase deficiency
1 OMIM reference -
1 associated gene
14 connected diseases
No signs/symptoms info
Disease Type of connection
Cervical spina bifida aperta
Cervical spina bifida cystica
Cervicothoracic spina bifida aperta
Cervicothoracic spina bifida cystica
Isolated anencephaly / exencephaly
Lumbosacral spina bifida aperta
Lumbosacral spina bifida cystica
Methotrexate poisoning
Thoracolumbosacral spina bifida aperta
Thoracolumbosacral spina bifida cystica
Total spina bifida aperta
Total spina bifida cystica
Upper thoracic spina bifida aperta
Upper thoracic spina bifida cystica
Synonym(s):
- MTHFR deficiency
- Methylene tetrahydrofolate reductase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
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: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MTHFR P42898607093
No signs/symptoms info available.