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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Phosphoserine aminotransferase deficiency
Fumaric aciduria

PSAT1 FH


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PSAT1
(0.49)
FH



Citations in the biomedical literature:


Phosphoserine aminotransferase deficiency
PSAT1
Fumaric aciduria
FH



Phosphoserine aminotransferase deficiency
Fumaric aciduria

Synonym(s):
- PSAT deficiency

Synonym(s):
- Fumarase deficiency

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538191

No signs/symptoms info available.