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6-pyruvoyl-tetrahydropterin synthase deficiency

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Mantle cell lymphoma

3 associated genes
7 signs/symptoms

6-pyruvoyl-tetrahydropterin synthase deficiency

Mantle cell lymphoma

PTS	(UniProt - OMIM)		ATM	(UniProt - OMIM)
			CCND1	(UniProt - OMIM)
			IGH	(UniProt)


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

Citations in the biomedical literature:

6-pyruvoyl-tetrahydropterin synthase deficiency		Mantle cell lymphoma
	Synonym(s): - Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency		Synonym(s): - LCM - MCL - Mantle zone lymphoma

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

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

	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: 1-9 / 100 000 Average age onset: adulthood Average age of death: adult Type of inheritance: multigenic/multifactorial

	External references: 1 OMIM reference - 1 MeSH reference: C535325		External references: No OMIM references 1 MeSH reference: D020522

Mantle cell lymphoma
	Very frequent - Hematologic / blood / lymphatic cancer - Lymphadenopathy / polyadenopathies Frequent - Anorexia - Asthenia / fatigue / weakness - Bone marrow / medullar infiltration - Splenomegaly - Weight loss / loss of appetite / break in weight curve / general health alteration
6-pyruvoyl-tetrahydropterin synthase deficiency
(no data available)