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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Combined oxidative phosphorylation defect type 4
Pyruvate carboxylase deficiency, infantile type

TUFM PC


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TUFM
(0.49)
PC



Citations in the biomedical literature:


Combined oxidative phosphorylation defect type 4
TUFM
Pyruvate carboxylase deficiency, infantile type
PC



Combined oxidative phosphorylation defect type 4
Pyruvate carboxylase deficiency, infantile type

Synonym(s):
- COXPD4

Synonym(s):
- Pyruvate carboxylase deficiency type A

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

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

Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

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

No signs/symptoms info available.