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Thoracolumbosacral spina bifida cystica
6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
Thoracolumbosacral spina bifida cystica
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

FUZ
(UniProt - OMIM)
 SARS2
(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)
SARS2


Citations in the biomedical literature:


Thoracolumbosacral spina bifida cystica
FUZ MTHFD1 MTHFR T VANGL1 VANGL2

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
SARS2



Thoracolumbosacral spina bifida cystica
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- HUPRA syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease
- Rare respiratory disease
Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)
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: <1 / 1 000 000
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.