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6-pyruvoyl-tetrahydropterin synthase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
6-pyruvoyl-tetrahydropterin synthase deficiency
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome

PTS
(UniProt - OMIM)
 ATR
(UniProt - OMIM)

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


Citations in the biomedical literature:


6-pyruvoyl-tetrahydropterin synthase deficiency
PTS
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR



6-pyruvoyl-tetrahydropterin synthase deficiency
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome

Synonym(s):
- Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C535325
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.