Details of Disease | DrugMAP

General Information of Disease (ID: DIS3Z996)

Disease Name	Purine nucleoside phosphorylase deficiency
Synonyms	nucleoside phosphorylase deficiency; immunodeficiency due to purine nucleoside phosphorylase deficiency; PNPase deficiency; PNP deficiency; purine nucleoside phosphorylase deficiency; purine-nucleoside phosphorylase deficiency; deficiency of inosine phosphorylase
Definition	Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.
Disease Hierarchy	DISQZI8H: Inborn disorder of purine metabolism DIS3Z996: Purine nucleoside phosphorylase deficiency
Disease Identifiers	MONDO ID MONDO_0013171 UMLS CUI C0268125 OMIM ID 613179 MedGen ID 75653 Orphanet ID 760 SNOMED CT ID 60743005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PNP	TTMCF1Y	Definitive	Biomarker	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PNP	DE2WSAL	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PNP	OTO5NIJ2	Strong	Autosomal recessive	[2]
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References

1	Intracellular Delivery of Human Purine Nucleoside Phosphorylase by Engineered Diphtheria Toxin Rescues Function in Target Cells.Mol Pharm. 2018 Nov 5;15(11):5217-5226. doi: 10.1021/acs.molpharmaceut.8b00735. Epub 2018 Sep 26.
2	Purine nucleoside phosphorylase deficiency: a mutation update. Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1243-7. doi: 10.1080/15257770.2011.630852.