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6-pyruvoyl-tetrahydropterin synthase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Severe combined immunodeficiency due to DNA-PKcs deficiency
1 associated gene
No signs/symptoms info
6-pyruvoyl-tetrahydropterin synthase deficiency
Severe combined immunodeficiency due to DNA-PKcs deficiency

PTS
(UniProt - OMIM)
 PRKDC
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PTS
(0.63)
PRKDC


Citations in the biomedical literature:


6-pyruvoyl-tetrahydropterin synthase deficiency
PTS
Severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC



6-pyruvoyl-tetrahydropterin synthase deficiency
Severe combined immunodeficiency due to DNA-PKcs deficiency

Synonym(s):
- Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
Synonym(s):
- SCID due to DNA-PKcs deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic 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:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C535325
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.