MCID: PRN001
MIFTS: 57

Purine Nucleoside Phosphorylase Deficiency malady

Genetic diseases, Rare diseases, Immune diseases categories

Summaries for Purine Nucleoside Phosphorylase Deficiency

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Purine nucleoside phosphorylase (pnp) deficiency is a primary immunodeficiency syndrome characterized by recurrent infections, neurologic symptoms, and autoimmune disorders. pnp deficiency causes a shortage of white blood cells called t cells that help fight infection. some people with this condition develop neurologic symptoms, such as spasticity, ataxia, developmental delay, or intellectual disability. in addition, pnp deficiency is associated with increased risk of autoimmune disorders, such as autoimmune hemolytic anemia, idiopathic thrombocytopenia (itp), autoimmune neutropenia, thyroiditis, and lupus. pnp deficiency is a autosomal recessive disorder caused by mutations in the pnp gene. treatment with bone marrow transplantation can improve the immune system problems associated with this condition, but does not improve the neurologic symptoms. last updated: 6/29/2009

MalaCards: Purine Nucleoside Phosphorylase Deficiency, also known as purine nucleoside phosphorylase, is related to adenosine deaminase deficiency and malaria. An important gene associated with Purine Nucleoside Phosphorylase Deficiency is PNP (purine nucleoside phosphorylase), and among its related pathways are Nucleotide Metabolism and One carbon pool by folate. The compounds 9-deazaguanine and 8-azaguanine have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone and bone marrow, and related mouse phenotypes are renal/urinary system and cellular.

Disease Ontology:9 A combined t cell and b cell immunodeficiency that is a rare autosomal recessive metabolic disorder caused by a mutaion in the pnp gene and characterized mainly by decreased t-cell function.

Genetics Home Reference:22 Purine nucleoside phosphorylase deficiency is one of several disorders that damage the immune system and cause severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from foreign invaders such as bacteria, viruses, and fungi. Affected individuals are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system. Infants with SCID typically grow much more slowly than healthy children and experience pneumonia, chronic diarrhea, and widespread skin rashes. Without successful treatment to restore immune function, children with SCID usually do not survive past early childhood.

Wikipedia:66 Purine nucleoside phosphorylase deficiency, often called PNP-deficiency, is a rare autosomal... more...

Description from OMIM:48 613179

Aliases & Classifications for Purine Nucleoside Phosphorylase Deficiency

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9Disease Ontology, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 63UMLS, 10diseasecard, 21GeneTests, 23GTR, 41NCIt, 59SNOMED-CT, 48OMIM, 26ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases


Aliases & Descriptions:

purine nucleoside phosphorylase deficiency 9 44 22 11
purine nucleoside phosphorylase 10 21 23
pnp deficiency 9 44 22
purine-nucleoside phosphorylase deficiency 9 63
deficiency of inosine phosphorylase 9
nucleoside phosphorylase deficiency 22


External Ids:

Disease Ontology9 DOID:5813
NCIt41 C3963
OMIM48 613179
ICD1026 D81.5

Related Diseases for Purine Nucleoside Phosphorylase Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Purine Nucleoside Phosphorylase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1adenosine deaminase deficiency31.1ADA, PNP
2malaria30.8HPRT1, PNP
3adenocarcinoma30.8PNP, FAS, ADA, DCK
4pancreatic cancer30.7FAS, DCK, PNP
5chronic lymphocytic leukemia30.7ADA, PNP, DCK
6leukemia30.7HPRT1, FAS, DCK, APRT, AHCY, PNP
7severe combined immunodeficiency30.7ADA, AHCY, PNP
8melanoma30.6PNP, HPRT1, FAS, ADA
9lymphopenia30.6FAS, ADA, PNP
10t-cell leukemia30.5ADA, FAS, PNP
11non-hodgkin lymphoma30.4PNP, HPRT1, ADA, FAS
12immunodeficiency due to purine nucleoside phosphorylase deficiency10.7
13pancreatitis10.7
14paraplegia10.5
15spasticity10.5
16hepatocellular carcinoma10.5
17tuberculosis10.5
18graft versus host disease10.4
19progressive multifocal leukoencephalopathy10.4
20autoimmune hemolytic anemia10.4
21common variable immunodeficiency10.4
22hemolytic anemia10.4
23hematopoietic stem cell transplantation10.4
24orotic aciduria10.3
25alzheimer's disease10.3
26cerebritis10.3
27cerebral malaria10.3
28lymphoblastic leukemia10.3
29neuroblastoma10.3
30periodontal disease10.3
31periodontitis10.3
32psoriasis10.3
33schistosomiasis10.3
34myeloproliferative disorder10.3
35t cell deficiency10.2
36primary immunodeficiency disease10.1PNP
37sclerosing cholangitis10.1
38cholangitis10.1
39hprt-related gout10.1HPRT1, APRT
40hyperuricemia10.0HPRT1, APRT
41nephrolithiasis10.0HPRT1, APRT
42hairy cell leukemia10.0DCK, ADA
43autoimmune thyroiditis10.0PNP, FAS, DCK
44metabolic syndrome x10.0PNP, APRT, ADA
45aplastic anemia10.0FAS, HPRT1
46hematologic cancer10.0PNP, ADA, DCK
47cutaneous t cell lymphoma10.0FAS, PNP, ADA
48precursor t-cell acute lymphoblastic leukemia10.0PNP, HPRT1, ADA
49immunodeficiency with hyper igm type 210.0PNP, DCK, ADA
50xeroderma pigmentosum10.0HPRT1, ADA

Graphical network of the top 20 diseases related to Purine Nucleoside Phosphorylase Deficiency:



Diseases related to purine nucleoside phosphorylase deficiency

Symptoms for Purine Nucleoside Phosphorylase Deficiency

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48OMIM
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Clinical features from OMIM:

613179

Drugs & Therapeutics for Purine Nucleoside Phosphorylase Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Purine Nucleoside Phosphorylase Deficiency

Drug clinical trials:

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Search NIH Clinical Center for Purine Nucleoside Phosphorylase Deficiency

Search CenterWatch for Purine Nucleoside Phosphorylase Deficiency

Genetic Tests for Purine Nucleoside Phosphorylase Deficiency

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21GeneTests, 23GTR
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Genetic tests related to Purine Nucleoside Phosphorylase Deficiency:

id Genetic test Affiliating Genes
1 Purine Nucleoside Phosphorylase Deficiency21 PNP
2 Purine-Nucleoside Phosphorylase Deficiency23

Anatomical Context for Purine Nucleoside Phosphorylase Deficiency

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34MalaCards
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MalaCards organs/tissues related to Purine Nucleoside Phosphorylase Deficiency:

34
T cells, Bone, Bone marrow, Thyroid, B cells, Testes

Animal Models for Purine Nucleoside Phosphorylase Deficiency or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Purine Nucleoside Phosphorylase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.3HPRT1, FAS, ADA, APRT, PNP
2MP:00053848.3HPRT1, FAS, ADA, DCK, PNP
3MP:00053977.8PNP, APRT, DCK, ADA, FAS, HPRT1
4MP:00053877.6PNP, APRT, DCK, ADA, FAS, HPRT1

Publications for Purine Nucleoside Phosphorylase Deficiency

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53PubMed
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Articles related to Purine Nucleoside Phosphorylase Deficiency:

(show top 50)    (show all 80)
idTitleAuthorsYear
1
Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency. (23371835)
2013
2
Cross correction following haemopoietic stem cell transplant for purine nucleoside phosphorylase deficiency: engrafted donor-derived white blood cells provide enzyme to residual enzyme-deficient recipient cells. (23430937)
2012
3
Purine nucleoside phosphorylase deficiency: a mutation update. (22132981)
2011
4
Identification of purine nucleoside phosphorylase deficiency in dried blood spots by a non-radiochemical assay using reversed-phase high-performance liquid chromatography. (20544539)
2010
5
Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients. (19584574)
2009
6
An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication. (18208442)
2008
7
Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency. (18067860)
2008
8
Progressive multifocal leukoencephalopathy in purine nucleoside phosphorylase deficiency. (16949240)
2007
9
Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections. (17641261)
2007
10
Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency. (17910661)
2007
11
Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency. (15571269)
2004
12
Familial spastic paraplegia as the presenting manifestation in patients with purine nucleoside phosphorylase deficiency. (12693783)
2003
13
Purine nucleoside phosphorylase deficiency: a new case report and identification of two novel mutations (Gly156A1a and Val217Ile), only one of which (Gly156A1a) is deleterious. (12483996)
2002
14
Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency. (11902746)
2002
15
Adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency in common variable immunodeficiency. (9605997)
1998
16
Mutations in purine nucleoside phosphorylase deficiency. (9067751)
1997
17
Correction of purine nucleoside phosphorylase deficiency by transplantation of allogeneic bone marrow from a sibling. (8774508)
1996
18
Late diagnosis and correction of purine nucleoside phosphorylase deficiency with allogeneic bone marrow transplantation. (8673045)
1996
19
Marked hypouricemia in purine nucleoside phosphorylase deficiency--serendipitous finding on screen. (8665699)
1996
20
Secondary loss of deoxyguanosine kinase activity in purine nucleoside phosphorylase deficient mice. (7918681)
1994
21
Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. (1384322)
1992
22
Genetic models of purine nucleoside phosphorylase deficiency in the mouse. (1781357)
1991
23
Mechanisms of 2'-deoxyguanosine toxicity in mouse T-lymphoma cells with purine nucleoside phosphorylase deficiency and resistance to inhibition of ribonucleotide reductase by dGTP. (2114100)
1990
24
Mechanisms of deoxyguanosine lymphotoxicity. Human thymocytes, but not peripheral blood lymphocytes accumulate deoxy-GTP in conditions simulating purine nucleoside phosphorylase deficiency. (2104895)
1990
25
Clinico-biochemical and molecular studies of purine nucleoside phosphorylase deficiency. (2516410)
1989
26
High risk screening of adenosine deaminase and purine nucleoside phosphorylase deficiency in Japan. (3144840)
1987
27
Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency. (2439024)
1987
28
A human purine nucleoside phosphorylase deficiency caused by a single base change. (3029074)
1987
29
A new case of purine nucleoside phosphorylase deficiency: enzymologic, clinical, and immunologic characteristics. (3103087)
1987
30
A rat model of purine nucleoside phosphorylase deficiency. (3019875)
1986
31
A canine model of induced purine nucleoside phosphorylase deficiency. (3026696)
1986
32
Molecular basis of a human purine nucleoside phosphorylase deficiency. (3107883)
1986
33
Prenatal exclusion of purine nucleoside phosphorylase deficiency. (3089796)
1986
34
An erythrocyte Pr auto-antibody with sialoglycoprotein specificity in a patient with purine nucleoside phosphorylase deficiency. (2580378)
1985
35
Inosine formation from hypoxanthine by intact erythrocytes and fibroblasts of an immunodeficient child with purine nucleoside phosphorylase deficiency. (6426263)
1984
36
Immune deficiency due to adenosine deaminase and purine nucleoside phosphorylase deficiency: a simple diagnostic test. (6438186)
1984
37
Mononuclear cells in S-phase in a patient with purine nucleoside phosphorylase deficiency. (6426264)
1984
38
The metabolism of deoxyguanosine and guanosine in human B and T lymphoblasts. A role for deoxyguanosine kinase activity in the selective T-cell defect associated with purine nucleoside phosphorylase deficiency. (6312962)
1983
39
On the metabolism of allopurinol. Formation of allopurinol-1-riboside in purine nucleoside phosphorylase deficiency. (6409116)
1983
40
Purine nucleoside phosphorylase deficiency associated with a fatal lymphoproliferative disorder. (6791594)
1981
41
Altered purine and pyrimidine metabolism in erythrocytes with purine nucleoside phosphorylase deficiency. (6160848)
1980
42
Purine nucleoside phosphorylase deficiency: improved metabolic and immunologic function with erythrocyte transfusions. (6774252)
1980
43
Purine nucleoside phosphorylase deficiency: a molecular model for selective loss of T cell function. (109531)
1979
44
Cellular immune deficiency with autoimmune hemolytic anemia in purine nucleoside phosphorylase deficiency. (111549)
1979
45
Purine nucleoside phosphorylase deficiency: biochemical properties and heterogeneity in two families. (36100)
1979
46
Deoxyribonucleoside toxicity in adenosine deaminase and purine nucleoside phosphorylase deficiency: implications for the development of new immunosuppressive agents. (115660)
1978
47
Purine metabolism and immunodeficiency: urinary purine excretion as a diagnostic screening test in adenosine deaminase and purine nucleoside phosphorylase deficiency. (108044)
1978
48
Screening for primary immunodeficiencies associated with purine nucleoside phosphorylase deficiency or adenosine deaminase deficiency. (409794)
1977
49
Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency. (402573)
1977
50
Purine nucleoside phosphorylase deficiency. Evidence for molecular heterogeneity in two families with enzyme-deficient members. (408378)
1977

Variations for Purine Nucleoside Phosphorylase Deficiency

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Purine Nucleoside Phosphorylase Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1PNPNM_000270.3(PNP): c.265G> A (p.Glu89Lys)single nucleotide variantPathogenicrs104894453GRCh37Chr 14, 20942714: 20942714
2PNPNM_000270.3(PNP): c.520G> C (p.Ala174Pro)single nucleotide variantPathogenicrs104894454GRCh37Chr 14, 20943279: 20943279
3PNPNM_000270.3(PNP): c.383A> G (p.Asp128Gly)single nucleotide variantPathogenicrs104894450GRCh37Chr 14, 20943029: 20943029
4PNPNM_000270.3(PNP): c.701G> C (p.Arg234Pro)single nucleotide variantPathogenicrs104894451GRCh37Chr 14, 20944591: 20944591
5PNPNM_000270.3(PNP): c.575A> G (p.Tyr192Cys)single nucleotide variantPathogenicrs104894452GRCh37Chr 14, 20943334: 20943334
6PNPNM_000270.3(PNP): c.70C> T (p.Arg24Ter)single nucleotide variantPathogenicrs104894455GRCh37Chr 14, 20940525: 20940525
7PNPNM_000270.3(PNP): c.172C> T (p.Arg58Ter)single nucleotide variantPathogenicrs104894460GRCh37Chr 14, 20940627: 20940627

Expression for genes affiliated with Purine Nucleoside Phosphorylase Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Purine Nucleoside Phosphorylase Deficiency

Search GEO for disease gene expression data for Purine Nucleoside Phosphorylase Deficiency.

Pathways for genes affiliated with Purine Nucleoside Phosphorylase Deficiency

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51PathCards, 39NCBI BioSystems Database, 31KEGG, 52PharmGKB, 61Thomson Reuters, 56Reactome
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Pathways related to Purine Nucleoside Phosphorylase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5HPRT1, PRPS2
2
Show member pathways
One Carbon Metabolism39
dTMP de novo biosynthesis (mitochondrial)39
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate39
Trans-sulfuration and one carbon metabolism39
methionine salvage39
Methionine metabolism61
9.1HPRT1, ADA, AHCY
3
Show member pathways
guanosine nucleotides de novo biosynthesis39
guanosine ribonucleotides de novo biosynthesis39
adenosine ribonucleotides de novo biosynthesis39
purine nucleotides de novo biosynthesis39
8.9PNP, APRT, ADA, HPRT1
4
Show member pathways
purine deoxyribonucleosides degradation39
purine nucleotides degradation39
adenine and adenosine salvage II39
adenine and adenosine salvage III39
oxidized GTP and dGTP detoxification39
urate biosynthesis/inosine 5-phosphate degradation39
adenine and adenosine salvage I39
purine ribonucleosides degradation to ribose-1-phosphate39
inosine-5-phosphate biosynthesis39
guanosine nucleotides degradation39
guanine and guanosine salvage39
adenosine nucleotides degradation39
5-aminoimidazole ribonucleotide biosynthesis39
8.6PNP, APRT, DCK, ADA, HPRT1
5
Show member pathways
UTP and CTP dephosphorylation II39
ATP ITP metabolism61
purine deoxyribonucleosides salvage39
8.0HPRT1, PRPS2, ADA, DCK, APRT, PNP
6
Show member pathways
7.5PNP, AHCY, APRT, DCK, ADA, PRPS2

Compounds for genes affiliated with Purine Nucleoside Phosphorylase Deficiency

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46Novoseek, 12DrugBank, 25HMDB, 62Tocris Bioscience, 30IUPHAR, 52PharmGKB
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Compounds related to Purine Nucleoside Phosphorylase Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 101)
idCompoundScoreTop Affiliating Genes
19-deazaguanine46 1211.0PNP, HPRT1
28-azaguanine46 1211.0HPRT1, PNP
32,8-dihydroxyadenine4610.0APRT, HPRT1
4deoxyinosine46 2511.0ADA, PNP
52,6-diaminopurine469.9ADA, APRT
69-(beta-d-arabinofuranosyl)guanine469.7DCK, PNP, ADA
76 thioguanine469.7DCK, PNP, HPRT1
8nelarabine46 1210.7DCK, PNP, ADA
9ethyl methanesulfonate469.7APRT, HPRT1
10pentostatin46 62 30 1212.7ADA, DCK, PNP
11dgtp46 2510.7HPRT1, DCK, PNP
12didanosine46 52 1211.7HPRT1, ADA, PNP
13neplanocin a469.6ADA, AHCY
14allopurinol46 52 1211.6ADA, APRT, HPRT1
15Phosphoribosyl pyrophosphate259.6HPRT1, APRT, PRPS2
16guanosine46 25 1211.5DCK, PNP, ADA
172 chloroadenosine469.5AHCY, ADA, DCK
18pyrimidine46 2510.5PNP, DCK, ADA
19uric acid46 2510.5APRT, PNP, HPRT1
20ribavirin46 52 1211.4ADA, PNP, AHCY
21deoxyguanosine46 2510.3PNP, DCK, HPRT1, ADA
22deoxynucleoside469.3ADA, DCK
23xanthine46 2510.3PNP, APRT, HPRT1, ADA
24deoxycytidine46 2510.3ADA, HPRT1, PNP, DCK
25inosine monophosphate469.3HPRT1, PNP, APRT, AHCY
265-methylthioadenosine469.3ADA, APRT, AHCY, PNP
27adenosine30 25 1211.2DCK, AHCY, PNP, ADA
28s-adenosylhomocysteine46 2510.2PNP, ADA, AHCY, APRT
29zidovudine46 52 1211.1HPRT1, ADA, DCK
302-chlorodeoxyadenosine469.1DCK, PNP, FAS, ADA
31thymidylate469.1DCK, HPRT1, FAS, PNP
32Adenosine monophosphate25 1210.1APRT, DCK, HPRT1, PRPS2
33fludarabine46 52 1211.1FAS, ADA, PNP, DCK
34carbon469.0FAS, PNP, ADA, HPRT1
35guanine46 25 1211.0PNP, APRT, HPRT1, ADA, DCK
36prpp469.0HPRT1, DCK, APRT, PNP, PRPS2
37deoxyadenosine46 259.9ADA, APRT, AHCY, PNP, DCK
38adenylate468.9APRT, HPRT1, ADA, DCK, PNP
39pyrophosphate46 259.9APRT, DCK, PNP, PRPS2, HPRT1
40inosine46 259.9AHCY, ADA, PNP, HPRT1, APRT
41hypoxanthine46 25 1210.9HPRT1, ADA, APRT, PNP, AHCY
42adenine46 25 1210.8ADA, HPRT1, AHCY, PNP, APRT
43thymidine46 259.8HPRT1, FAS, PNP, DCK, APRT
44creatinine468.7APRT, PNP, ADA, FAS, HPRT1
45h2o2468.6ADA, FAS, HPRT1, PNP, APRT
46atp46 309.6DCK, AHCY, APRT, PNP, ADA
47purine nucleoside468.5ADA, DCK, PNP, AHCY, APRT, HPRT1
48purine46 259.5APRT, PNP, DCK, AHCY, ADA, HPRT1
49nucleoside468.5AHCY, APRT, DCK, ADA, HPRT1, PNP
50cysteine468.1FAS, ADA, AHCY, PNP, HPRT1

GO Terms for genes affiliated with Purine Nucleoside Phosphorylase Deficiency

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17Gene Ontology
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Cellular components related to Purine Nucleoside Phosphorylase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular vesicular exosomeGO:0700628.0PNP, AHCY, APRT, FAS, HPRT1
2cytoplasmGO:0057377.8HPRT1, FAS, ADA, APRT, AHCY, PNP
3cytosolGO:0058297.3HPRT1, FAS, ADA, DCK, APRT, AHCY

Biological processes related to Purine Nucleoside Phosphorylase Deficiency according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1adenine salvageGO:0061689.8HPRT1, APRT
2purine ribonucleoside salvageGO:0061669.7APRT, HPRT1
3hypoxanthine salvageGO:0431039.7HPRT1, ADA
4nucleobase-containing compound metabolic processGO:0061399.6PRPS2, PNP
5positive regulation of alpha-beta T cell differentiationGO:0466389.6ADA, PNP
6grooming behaviorGO:0076259.4HPRT1, APRT
7purine-containing compound salvageGO:0431018.8HPRT1, ADA, DCK, APRT, PNP
8purine nucleobase metabolic processGO:0061448.8PNP, APRT, DCK, ADA, HPRT1
9nucleobase-containing small molecule metabolic processGO:0550868.7PNP, APRT, DCK, ADA, HPRT1
10small molecule metabolic processGO:0442818.2PNP, AHCY, APRT, DCK, ADA, HPRT1

Molecular functions related to Purine Nucleoside Phosphorylase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1drug bindingGO:0081449.8DCK, PNP
2AMP bindingGO:0162089.3PRPS2, APRT

Products for genes affiliated with Purine Nucleoside Phosphorylase Deficiency

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  • Antibodies
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Sources for Purine Nucleoside Phosphorylase Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet