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3 associated genes
7 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Mantle cell lymphoma
6-pyruvoyl-tetrahydropterin synthase deficiency

ATM PTS
CCND1
IGH


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Mantle cell lymphoma
ATM CCND1 IGH
6-pyruvoyl-tetrahydropterin synthase deficiency
PTS



Mantle cell lymphoma
6-pyruvoyl-tetrahydropterin synthase deficiency

Synonym(s):
- LCM
- MCL
- Mantle zone lymphoma

Synonym(s):
- Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency

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

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

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

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)