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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
4 associated genes
No signs/symptoms info
Acute neonatal citrullinemia type I
Leigh syndrome with nephrotic syndrome

ASS1 BCS1L
COQ2
DLD
PDSS2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ASS1
(0.7)
DLD



Citations in the biomedical literature:


Acute neonatal citrullinemia type I
ASS1
Leigh syndrome with nephrotic syndrome
BCS1L COQ2 DLD PDSS2



Acute neonatal citrullinemia type I
Leigh syndrome with nephrotic syndrome

Synonym(s):
- Acute neonatal citrullinemia type 1
- Classic citrullinemia type 1
- Classic citrullinemia type I

Synonym(s):
- Infantile subacute necrotizing encephalopathy with nephrotic syndrome
- Leigh disease with nephrotic syndrome

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
No MeSH references

No signs/symptoms info available.