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3 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Idiopathic aplastic anemia
Purine nucleoside phosphorylase deficiency

IFNG PNP
PRF1
SBDS
TERC
TERT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SBDS
(0.63)
PNP



Citations in the biomedical literature:


Idiopathic aplastic anemia
IFNG PRF1 SBDS TERC TERT
Purine nucleoside phosphorylase deficiency
PNP



Idiopathic aplastic anemia
Purine nucleoside phosphorylase deficiency

Synonym(s):
- Bone marrow failure

Synonym(s):
- PNP deficiency

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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

External references:
3 OMIM references -
1 MeSH reference: C538494
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.