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

SARS2 FUZ
MTHFD1
MTHFR
T
VANGL1
VANGL2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SARS2
(0.49)
MTHFD1



Citations in the biomedical literature:


Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
SARS2
Cervical spina bifida cystica
FUZ MTHFD1 MTHFR T VANGL1 VANGL2



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

Synonym(s):
- HUPRA syndrome

Synonym(s):
(no synonyms)

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

Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: multigenic/multifactorial

External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.