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

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

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.