MCID: PRN001
MIFTS: 52

Purine Nucleoside Phosphorylase Deficiency malady

Immune category

Summaries for Purine Nucleoside Phosphorylase Deficiency

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 t lymphocyte deficiency. An important gene associated with Purine Nucleoside Phosphorylase Deficiency is PNP (purine nucleoside phosphorylase), and among its related pathways are superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis (E. coli) and adenine and adenosine salvage III. The compounds 2,2-difluorodeoxyguanosine and 9-deazaguanine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, thyroid and skin, and related mouse phenotypes are renal/urinary system and hematopoietic system.

Disease Ontology:8 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:21 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:64 Purine nucleoside phosphorylase deficiency, often called PNP-deficiency, is a rare autosomal... more...

Description from OMIM:47 613179

Aliases & Classifications for Purine Nucleoside Phosphorylase Deficiency

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 61UMLS, 9diseasecard, 20GeneTests, 22GTR, 57SNOMED-CT, 40NCIt, 47OMIM, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Immune


Aliases & Descriptions:

purine nucleoside phosphorylase deficiency 8 43 21 10
purine nucleoside phosphorylase 9 20 22
pnp deficiency 8 43 21
purine-nucleoside phosphorylase deficiency 8 61
deficiency of inosine phosphorylase 8
nucleoside phosphorylase deficiency 21


External Ids:

Disease Ontology8 DOID:5813
NCIt40 C3963
OMIM47 613179
ICD1025 D81.5

Related Diseases for Purine Nucleoside Phosphorylase Deficiency

Sources:
17GeneCards, 18GeneDecks
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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 56)
idRelated DiseaseScoreTop Affiliating Genes
1adenosine deaminase deficiency31.3ADA, PNP
2t lymphocyte deficiency30.8DGUOK
3tuberculosis30.7ADA, ADK, PNP
4deficiency anemia30.6HPRT1
5t cell deficiency10.7
6immunodeficiency due to purine nucleoside phosphorylase deficiency10.7
7adenocarcinoma10.6
8phosphorylase kinase deficiency10.5
9graft versus host disease10.4
10common variable immunodeficiency10.4
11progressive multifocal leukoencephalopathy10.4
12autoimmune hemolytic anemia10.4
13b cell deficiency10.4
14specific antibody deficiency10.4
15hematopoietic stem cell transplantation10.4
16cerebral malaria10.3
17plasmodium falciparum malaria10.3
18orotic aciduria10.3
19myeloproliferative disorder10.3
20sclerosing cholangitis10.1
21protein c deficiency10.1
22primary immunodeficiency disease10.0PNP
23phosphoribosylpyrophosphate synthetase superactivity10.0PRPS1
24netherton syndrome10.0HPRT1
25hypermethioninemia10.0AHCY
26myopathy10.0DGUOK
27malaria10.0HPRT1, PNP
28glioblastoma multiforme10.0FAS
29myeloid leukemia10.0FAS
30hprt-related gout10.0APRT, HPRT1
31acute leukemia10.0DCK, HPRT1
32xeroderma pigmentosum10.0ADA, HPRT1
33herpes simplex10.0DCK, PNP, DGUOK
34hairy cell leukemia10.0ADA, DCK
35autoimmune thyroiditis10.0FAS, DCK, PNP
36pancreatic cancer10.0PNP, FAS, DCK
37b-cell chronic lymphocytic leukemia10.0DCK, FAS, DGUOK
38hyperuricemia10.0APRT, PRPS1, HPRT1
39skin cancer10.0HPRT1, APRT
40metabolic syndrome x10.0ADA, APRT, PNP
41precursor t-cell acute lymphoblastic leukemia10.0HPRT1, PNP, ADA
42cutaneous t cell lymphoma10.0FAS, PNP, ADA
43lymphopenia10.0ADA, PNP, FAS
44hematologic cancer10.0ADA, PNP, DCK, DGUOK
45chronic lymphocytic leukemia10.0DGUOK, PNP, ADA, DCK
46t-cell leukemia10.0FAS, ADA, PNP
47severe combined immunodeficiency10.0ADA, AHCY, PNP
48immunodeficiency with hyper igm type 210.0PNP, ADA, DCK
49acute lymphocytic leukemia10.0PNP, DCK, ADA, HPRT1
50non-hodgkin lymphoma10.0PNP, ADA, HPRT1, FAS

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



Diseases related to purine nucleoside phosphorylase deficiency

Clinical Features for Purine Nucleoside Phosphorylase Deficiency

Sources:
47OMIM
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Clinical features from OMIM:

613179

Drugs & Therapeutics for Purine Nucleoside Phosphorylase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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

Sources:
20GeneTests, 22GTR
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Genetic tests related to Purine Nucleoside Phosphorylase Deficiency:

id Genetic test Affiliating Genes
1 Purine Nucleoside Phosphorylase Deficiency20 PNP
2 Purine-nucleoside Phosphorylase Deficiency22

Anatomical Context for Purine Nucleoside Phosphorylase Deficiency

Sources:
33MalaCards
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MalaCards organs/tissues related to Purine Nucleoside Phosphorylase Deficiency:

33
Bone marrow, Thyroid, Skin, T cells, B lymphoblasts, B cells

Animal Models for Purine Nucleoside Phosphorylase Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Purine Nucleoside Phosphorylase Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.2APRT, FAS, HPRT1, PNP, ADA
2MP:00053978.2APRT, FAS, DCK, HPRT1, PNP, ADA

Publications for Purine Nucleoside Phosphorylase Deficiency

Sources:
51PubMed
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Articles related to Purine Nucleoside Phosphorylase Deficiency:

(show top 50)    (show all 83)
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
Identification of purine nucleoside phosphorylase deficiency in dried blood spots by a non-radiochemical assay using reversed-phase high-performance liquid chromatography. (20544539)
2010
4
Purine nucleoside phosphorylase deficiency with fatal course in two sisters. (19657670)
2010
5
Lentivirus gene therapy for purine nucleoside phosphorylase deficiency. (18924118)
2008
6
Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections. (17641261)
2007
7
TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice. (16964310)
2006
8
Intracellular delivery of purine nucleoside phosphorylase (PNP) fused to protein transduction domain corrects PNP deficiency in vitro. (16930574)
2006
9
Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency. (15571269)
2004
10
Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation. (15520787)
2004
11
Familial spastic paraplegia as the presenting manifestation in patients with purine nucleoside phosphorylase deficiency. (12693783)
2003
12
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
13
Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency. (11902746)
2002
14
Novel missense mutation in the purine nucleoside phosphorylase gene in a Japanese patient with purine nucleoside phosphorylase deficiency. (11982911)
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
Purine nucleoside phosphorylase (PNP) deficiency]. (8976114)
1996
18
Correction of purine nucleoside phosphorylase deficiency by transplantation of allogeneic bone marrow from a sibling. (8774508)
1996
19
Late diagnosis and correction of purine nucleoside phosphorylase deficiency with allogeneic bone marrow transplantation. (8673045)
1996
20
Marked hypouricemia in purine nucleoside phosphorylase deficiency--serendipitous finding on screen. (8665699)
1996
21
Stroke in purine nucleoside phosphorylase deficiency. (7779212)
1995
22
Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. (1384322)
1992
23
Genetic models of purine nucleoside phosphorylase deficiency in the mouse. (1781357)
1991
24
Hypouricemia and cellular immunodeficiency associated with purine-nucleoside phosphorylase deficiency]. (1929018)
1991
25
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
26
Prenatal diagnosis of purine nucleoside phosphorylase deficiency in the first and second trimesters of pregnancy. (2503819)
1989
27
A human purine nucleoside phosphorylase deficiency caused by a single base change. (3029074)
1987
28
A new case of purine nucleoside phosphorylase deficiency: enzymologic, clinical, and immunologic characteristics. (3103087)
1987
29
A rat model of purine nucleoside phosphorylase deficiency. (3019875)
1986
30
A canine model of induced purine nucleoside phosphorylase deficiency. (3026696)
1986
31
Molecular basis of a human purine nucleoside phosphorylase deficiency. (3107883)
1986
32
Prenatal exclusion of purine nucleoside phosphorylase deficiency. (3089796)
1986
33
Inosine formation from hypoxanthine by intact erythrocytes and fibroblasts of an immunodeficient child with purine nucleoside phosphorylase deficiency. (6426263)
1984
34
Immune deficiency due to adenosine deaminase and purine nucleoside phosphorylase deficiency: a simple diagnostic test. (6438186)
1984
35
The mechanism of inhibition and "reversal" of mitogen-induced lymphocyte activation in a model of purine-nucleoside phosphorylase deficiency. (6428752)
1984
36
The effect of deoxycytidine and tetrahydrouridine in purine nucleoside phosphorylase deficiency. (6426260)
1984
37
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
38
Altered purine and pyrimidine metabolism in erythrocytes with purine nucleoside phosphorylase deficiency. (6160848)
1980
39
Purine nucleoside phosphorylase deficiency: improved metabolic and immunologic function with erythrocyte transfusions. (6774252)
1980
40
Purine nucleoside phosphorylase deficiency. Measurement of variant protein in four families with enzyme-deficient members by an enzyme-linked immunosorbent assay. (6778206)
1980
41
Purine nucleoside phosphorylase deficiency; genetic studies in a Dutch family. (6775502)
1980
42
Phosphorylation of deoxyguanosine by B and T lymphocytes: evidence against selective trapping of deoxyguanosine by T lymphocytes in purine nucleoside phosphorylase deficiency. (6783354)
1980
43
Erythrocyte metabolism in purine nucleoside phosphorylase deficiency after enzyme replacement therapy by infusion of erythrocytes. (6765955)
1980
44
Purine nucleoside phosphorylase deficiency: a molecular model for selective loss of T cell function. (109531)
1979
45
Urinary excretion of orotic acid, orotidine and other pyrimidines in a patient with purine nucleoside phosphorylase deficiency. (109238)
1979
46
Partial purine nucleoside phosphorylase deficiency. Studies of lymphocyte function. (96131)
1978
47
Adenosine deaminase and purine nucleoside phosphorylase deficiency: how they were discovered and what they may mean. (115664)
1978
48
Purine nucleoside phosphorylase deficiency. Evidence for molecular heterogeneity in two families with enzyme-deficient members. (408378)
1977
49
Incorporation of purine nucleosides in cultured fibroblasts from a patient with purine nucleoside phosphorylase deficiency and associated T-cell immunodeficiency. (408357)
1977
50
Purine nucleoside phosphorylase deficiency: altered kinetic properties of a mutant enzyme. (407651)
1977

Genetic Variations for Purine Nucleoside Phosphorylase Deficiency

Expression for genes affiliated with Purine Nucleoside Phosphorylase Deficiency

Sources:
1BioGPS, 15Gene 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

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG, 50PharmGKB, 12EMD Millipore
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Compounds for genes affiliated with Purine Nucleoside Phosphorylase Deficiency

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 60Tocris Bioscience, 29IUPHAR
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Compounds related to Purine Nucleoside Phosphorylase Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 108)
idCompoundScoreTop Affiliating Genes
12,2-difluorodeoxyguanosine4510.1DCK, DGUOK
29-deazaguanine45 1111.0HPRT1, PNP
3deoxyuridine45 2410.8DGUOK, DCK, PNP
46 thioguanine459.8DCK, PNP, HPRT1
5deoxyinosine45 2410.8ADA, PNP
6tubercidin459.7ADK, AHCY
75-amino-5-deoxyadenosine459.7ADK, ADA
8Alpha-Phosphoribosylpyrophosphoric Acid119.7HPRT1, APRT
9adenylosuccinate459.6APRT, PNP, ADK
109-(beta-d-arabinofuranosyl)guanine459.6DCK, ADA, PNP, DGUOK
11nelarabine45 1110.6DGUOK, ADA, PNP, DCK
12dgtp45 2410.6PNP, DGUOK, HPRT1, DCK
138-azaguanine45 1110.5PNP, HPRT1
14didanosine45 1110.5ADA, HPRT1, DGUOK, PNP
15ribose459.5AHCY, ADK, PNP
16uric acid45 2410.4HPRT1, PNP, APRT, PRPS1
17allopurinol45 50 1111.4APRT, HPRT1, ADA
18pentostatin45 60 29 1112.4DCK, PNP, ADK, ADA
19deoxynucleoside459.4DCK, ADK, DGUOK, ADA
20vidarabine45 1110.4ADK, DCK, DGUOK, ADA
212 chloroadenosine459.2DCK, ADA, AHCY, ADK
22ribavirin45 50 1111.1PNP, AHCY, ADK, ADA
23cytarabine45 50 1111.1DGUOK, FAS, ADA, DCK
24guanine45 11 2411.1DCK, ADA, PNP, HPRT1, APRT
25guanosine45 11 2411.1ADK, ADA, PNP, DCK, DGUOK
26pyrimidine45 2410.1PNP, ADK, DCK, DGUOK, ADA
272-chlorodeoxyadenosine459.0ADA, DGUOK, FAS, PNP, DCK
28fludarabine45 1110.0PNP, ADA, DCK, FAS, DGUOK
29thymidylate459.0HPRT1, PNP, DGUOK, FAS, DCK
30adenosine29 11 2410.9PNP, ADK, ADA, AHCY, DCK
31xanthine45 249.9ADA, HPRT1, ADK, APRT, PNP
32inosine monophosphate458.9PNP, AHCY, ADK, APRT, HPRT1
335-methylthioadenosine458.9ADA, AHCY, ADK, PNP, APRT
34s-adenosylhomocysteine45 249.9PNP, APRT, AHCY, ADK, ADA
35carbon458.8HPRT1, ADA, FAS, PNP
36deoxyguanosine45 249.8DGUOK, DCK, PNP, ADK, ADA, HPRT1
37deoxycytidine45 249.8ADA, ADK, PNP, HPRT1, DGUOK, DCK
38thymidine45 249.6HPRT1, FAS, APRT, DCK, PNP, DGUOK
39inosine45 249.5ADA, ADK, PNP, AHCY, APRT, HPRT1
40hypoxanthine45 11 2410.5PNP, HPRT1, AHCY, ADK, APRT, ADA
41adenine45 11 2410.5APRT, AHCY, HPRT1, ADK, ADA, PNP
42Adenosine monophosphate11 249.4APRT, PRPS1, PRPS2, DCK, HPRT1, ADK
43deoxyadenosine45 249.3DGUOK, ADA, ADK, PNP, AHCY, DCK
44adenylate458.3ADK, ADA, HPRT1, PNP, DGUOK, APRT
45prpp458.3DCK, PRPS2, PRPS1, APRT, HPRT1, ADK
46pyrophosphate45 249.2ADK, PNP, HPRT1, APRT, PRPS1, PRPS2
47atp45 299.2ADK, APRT, DCK, AHCY, ADA, PNP
48nucleoside458.0HPRT1, AHCY, APRT, DCK, PNP, ADK
49purine nucleoside458.0ADA, PNP, ADK, HPRT1, AHCY, DCK
50purine45 248.6PNP, AHCY, DCK, APRT, DGUOK, ADK

GO Terms for genes affiliated with Purine Nucleoside Phosphorylase Deficiency

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058296.6ADA, APRT, FAS, PRPS1, DCK, AHCY

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1urate biosynthetic processGO:03441810.1PNP, PRPS1
2adenine salvageGO:0061689.9HPRT1, APRT
3hypoxanthine salvageGO:0431039.9HPRT1, ADA
4AMP salvageGO:0442099.8ADK, APRT
5ribonucleoside monophosphate biosynthetic processGO:0091569.8ADK, PRPS1
6purine nucleotide biosynthetic processGO:0061649.8PRPS1, HPRT1
7positive regulation of alpha-beta T cell differentiationGO:0466389.7ADA, PNP
85-phosphoribose 1-diphosphate biosynthetic processGO:0060159.7PRPS2, PRPS1
9nucleobase-containing compound metabolic processGO:0061399.7PRPS2, PNP
10purine ribonucleoside salvageGO:0061669.5ADK, HPRT1, APRT
11grooming behaviorGO:0076259.5HPRT1, APRT
12purine-containing compound salvageGO:0431018.3ADA, DGUOK, APRT, DCK, HPRT1, PNP
13nucleobase-containing small molecule metabolic processGO:0550868.2PNP, DGUOK, APRT, DCK, HPRT1, ADK
14purine nucleobase metabolic processGO:0061447.9PNP, DGUOK, APRT, PRPS1, ADA, ADK
15small molecule metabolic processGO:0442817.5HPRT1, AHCY, ADA, PNP, ADK, DCK

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

idNameGO IDScoreTop Affiliating Genes
1ribose phosphate diphosphokinase activityGO:0047499.6PRPS2, PRPS1
2AMP bindingGO:0162089.5PRPS2, APRT
3phosphotransferase activity, alcohol group as acceptorGO:0167739.4ADK, DCK, DGUOK
4magnesium ion bindingGO:0002879.0PRPS1, PRPS2, HPRT1
5protein homodimerization activityGO:0428039.0HPRT1, DCK, PRPS2, PRPS1

Products for genes affiliated with Purine Nucleoside Phosphorylase Deficiency

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Sources for Purine Nucleoside Phosphorylase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet