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3-phosphoglycerate dehydrogenase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
1 associated gene
No signs/symptoms info
3-phosphoglycerate dehydrogenase deficiency
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PHGDH
(UniProt - OMIM)
 ISG15
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PHGDH
(0.63)
ISG15


Citations in the biomedical literature:


3-phosphoglycerate dehydrogenase deficiency
PHGDH
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15



3-phosphoglycerate dehydrogenase deficiency
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- MSMD due to complete ISG15 deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.