Cytoscape Web
Click node...


6-pyruvoyl-tetrahydropterin synthase deficiency
1 OMIM reference -
1 associated gene
8 connected diseases
No signs/symptoms info
Disease Type of connection
Ataxia-telangiectasia
Ataxia-telangiectasia variant
B-cell chronic lymphocytic leukemia
Combined cervical dystonia
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Mantle cell lymphoma
Seckel syndrome
Severe combined immunodeficiency due to DNA-PKcs deficiency
Synonym(s):
- Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C535325

Gene symbol UniProt reference OMIM reference
PTS Q03393612719
No signs/symptoms info available.