MCID: PRN001
MIFTS: 55

Purine Nucleoside Phosphorylase Deficiency malady

Immune diseases category

Summaries for Purine Nucleoside Phosphorylase Deficiency

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 leukemia. 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 t cells, bone and bone marrow, 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:63 Purine nucleoside phosphorylase deficiency, often called PNP-deficiency, is a rare autosomal... more...

Description from OMIM:46 613179

Aliases & Classifications for Purine Nucleoside Phosphorylase Deficiency

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 60UMLS, 9diseasecard, 20GeneTests, 22GTR, 56SNOMED-CT, 39NCIt, 46OMIM, 25ICD10
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Classifications:

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


Aliases & Descriptions:

purine nucleoside phosphorylase deficiency 8 42 21 10
purine nucleoside phosphorylase 9 20 22
pnp deficiency 8 42 21
purine-nucleoside phosphorylase deficiency 8 60
deficiency of inosine phosphorylase 8
nucleoside phosphorylase deficiency 21


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Disease Ontology8 DOID:5813
NCIt39 C3963
OMIM46 613179
ICD1025 D81.5

Related Diseases for Purine Nucleoside Phosphorylase Deficiency

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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 66)
idRelated DiseaseScoreTop Affiliating Genes
1adenosine deaminase deficiency31.2ADA, PNP
2leukemia30.9ADA, HPRT1, PNP, AHCY, DCK, FAS
3malaria30.6HPRT1, PNP
4pancreatic cancer30.6PNP, FAS, DCK
5chronic lymphocytic leukemia30.6DGUOK, PNP, ADA, DCK
6severe combined immunodeficiency30.6ADA, AHCY, PNP
7tuberculosis30.6ADA, ADK, PNP
8t lymphocyte deficiency30.5DGUOK
9deficiency anemia30.5HPRT1
10lymphopenia30.5ADA, PNP, FAS
11t-cell leukemia30.4FAS, ADA, PNP
12non-hodgkin lymphoma30.4PNP, ADA, HPRT1, FAS
13t cell deficiency10.7
14immunodeficiency due to purine nucleoside phosphorylase deficiency10.7
15pancreatitis10.6
16phosphorylase kinase deficiency10.6
17adenocarcinoma10.5
18paraplegia10.5
19hepatocellular carcinoma10.4
20melanoma10.4
21graft versus host disease10.4
22common variable immunodeficiency10.4
23progressive multifocal leukoencephalopathy10.4
24autoimmune hemolytic anemia10.4
25b cell deficiency10.4
26hemolytic anemia10.4
27plasmodium malariae malaria10.3
28cerebritis10.3
29alzheimer's disease10.3
30cerebral malaria10.3
31plasmodium falciparum malaria10.3
32childhood leukemia10.3
33lymphoblastic leukemia10.3
34neuroblastoma10.3
35periodontal disease10.3
36periodontitis10.3
37psoriasis10.3
38schistosomiasis10.3
39sclerosing cholangitis10.0
40cholangitis10.0
41primary immunodeficiency disease10.0PNP
42phosphoribosylpyrophosphate synthetase superactivity10.0PRPS1
43netherton syndrome10.0HPRT1
44hypermethioninemia10.0AHCY
45glioblastoma multiforme10.0FAS
46myopathy10.0DGUOK
47hprt-related gout10.0APRT, HPRT1
48myeloid leukemia10.0FAS
49acute leukemia10.0DCK, HPRT1
50xeroderma pigmentosum10.0ADA, HPRT1

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

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46OMIM
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Clinical features from OMIM:

613179

Drugs & Therapeutics for Purine Nucleoside Phosphorylase Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Purine Nucleoside Phosphorylase Deficiency

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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

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32MalaCards
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MalaCards organs/tissues related to Purine Nucleoside Phosphorylase Deficiency:

32
T cells, Bone, Bone marrow, Thyroid, Skin, B cells, Testes

Animal Models for Purine Nucleoside Phosphorylase Deficiency or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Purine Nucleoside Phosphorylase Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.2ADA, PNP, HPRT1, FAS, APRT
2MP:00053978.2FAS, DCK, HPRT1, PNP, ADA, APRT

Publications for Purine Nucleoside Phosphorylase Deficiency

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50PubMed
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Articles related to Purine Nucleoside Phosphorylase Deficiency:

(show top 50)    (show all 90)
idTitleAuthorsYear
1
Purine nucleoside phosphorylase deficiency: a mutation update. (22132981)
2011
2
Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India. (22669887)
2011
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
An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication. (18208442)
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
Purine nucleoside phosphorylase deficiency associated with a dysplastic marrow morphology. (14711904)
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
Novel missense mutation in the purine nucleoside phosphorylase gene in a Japanese patient with purine nucleoside phosphorylase deficiency. (11982911)
2002
16
Mutations in purine nucleoside phosphorylase deficiency. (9067751)
1997
17
Marked hypouricemia in purine nucleoside phosphorylase deficiency--serendipitous finding on screen. (8665699)
1996
18
Stroke in purine nucleoside phosphorylase deficiency. (7779212)
1995
19
Normal uric acid concentrations in a purine nucleoside phosphorylase (PNP) deficient child presenting with severe chicken pox, possible immunodeficiency and developmental delay. (7544949)
1994
20
Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. (1384322)
1992
21
Genetic models of purine nucleoside phosphorylase deficiency in the mouse. (1781357)
1991
22
Purine nucleoside phosphorylase deficiency. (1931007)
1991
23
Hypouricemia and cellular immunodeficiency associated with purine-nucleoside phosphorylase deficiency]. (1929018)
1991
24
Clinico-biochemical and molecular studies of purine nucleoside phosphorylase deficiency. (2516410)
1989
25
Prenatal diagnosis of purine nucleoside phosphorylase deficiency in the first and second trimesters of pregnancy. (2503819)
1989
26
Fatal graft versus host disease after platelet transfusions in a child with purine nucleoside phosphorylase deficiency. (2495962)
1989
27
A new case of purine nucleoside phosphorylase deficiency: enzymologic, clinical, and immunologic characteristics. (3103087)
1987
28
A rat model of purine nucleoside phosphorylase deficiency. (3019875)
1986
29
A canine model of induced purine nucleoside phosphorylase deficiency. (3026696)
1986
30
Molecular basis of a human purine nucleoside phosphorylase deficiency. (3107883)
1986
31
Prenatal exclusion of purine nucleoside phosphorylase deficiency. (3089796)
1986
32
Inosine formation from hypoxanthine by intact erythrocytes and fibroblasts of an immunodeficient child with purine nucleoside phosphorylase deficiency. (6426263)
1984
33
Immune deficiency due to adenosine deaminase and purine nucleoside phosphorylase deficiency: a simple diagnostic test. (6438186)
1984
34
The mechanism of inhibition and "reversal" of mitogen-induced lymphocyte activation in a model of purine-nucleoside phosphorylase deficiency. (6428752)
1984
35
The effect of deoxycytidine and tetrahydrouridine in purine nucleoside phosphorylase deficiency. (6426260)
1984
36
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
37
On the metabolism of allopurinol. Formation of allopurinol-1-riboside in purine nucleoside phosphorylase deficiency. (6409116)
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
Red cell metabolism in purine nucleoside phosphorylase deficiency after enzyme replacement therapy. (102921)
1978
49
Incorporation of purine nucleosides in cultured fibroblasts from a patient with purine nucleoside phosphorylase deficiency and associated T-cell immunodeficiency. (408357)
1977
50
Orotic aciduria in two unrelated patients with inherited deficiencies of purine nucleoside phosphorylase. (406278)
1977

Genetic Variations for Purine Nucleoside Phosphorylase Deficiency

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Expression for genes affiliated with Purine Nucleoside Phosphorylase Deficiency

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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

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37NCBI BioSystems Database, 29KEGG, 53Reactome, 49PharmGKB, 12EMD Millipore
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Compounds for genes affiliated with Purine Nucleoside Phosphorylase Deficiency

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44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience, 28IUPHAR
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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-difluorodeoxyguanosine4410.1DCK, DGUOK
29-deazaguanine44 1111.0HPRT1, PNP
3deoxyuridine44 2410.8DGUOK, DCK, PNP
46 thioguanine449.8DCK, PNP, HPRT1
5deoxyinosine44 2410.8ADA, PNP
6tubercidin449.7ADK, AHCY
75-amino-5-deoxyadenosine449.7ADK, ADA
8Alpha-Phosphoribosylpyrophosphoric Acid119.7HPRT1, APRT
9adenylosuccinate449.6APRT, PNP, ADK
109-(beta-d-arabinofuranosyl)guanine449.6DCK, ADA, PNP, DGUOK
11nelarabine44 1110.6DGUOK, ADA, PNP, DCK
12dgtp44 2410.6PNP, DGUOK, HPRT1, DCK
138-azaguanine44 1110.5PNP, HPRT1
14didanosine44 1110.5ADA, HPRT1, DGUOK, PNP
15ribose449.5AHCY, ADK, PNP
16uric acid44 2410.4HPRT1, PNP, APRT, PRPS1
17allopurinol44 49 1111.4APRT, HPRT1, ADA
18pentostatin44 59 28 1112.4DCK, PNP, ADK, ADA
19deoxynucleoside449.4DCK, ADK, DGUOK, ADA
20vidarabine44 1110.4ADK, DCK, DGUOK, ADA
212 chloroadenosine449.2DCK, ADA, AHCY, ADK
22ribavirin44 49 1111.1PNP, AHCY, ADK, ADA
23cytarabine44 49 1111.1DGUOK, FAS, ADA, DCK
24guanine44 11 2411.1DCK, ADA, PNP, HPRT1, APRT
25guanosine44 11 2411.1ADK, ADA, PNP, DCK, DGUOK
26pyrimidine44 2410.1PNP, ADK, DCK, DGUOK, ADA
272-chlorodeoxyadenosine449.0ADA, DGUOK, FAS, PNP, DCK
28fludarabine44 1110.0PNP, ADA, DCK, FAS, DGUOK
29thymidylate449.0HPRT1, PNP, DGUOK, FAS, DCK
30adenosine28 11 2410.9PNP, ADK, ADA, AHCY, DCK
31xanthine44 249.9ADA, HPRT1, ADK, APRT, PNP
32inosine monophosphate448.9PNP, AHCY, ADK, APRT, HPRT1
335-methylthioadenosine448.9ADA, AHCY, ADK, PNP, APRT
34s-adenosylhomocysteine44 249.9PNP, APRT, AHCY, ADK, ADA
35carbon448.8HPRT1, ADA, FAS, PNP
36deoxyguanosine44 249.8DGUOK, DCK, PNP, ADK, ADA, HPRT1
37deoxycytidine44 249.8ADA, ADK, PNP, HPRT1, DGUOK, DCK
38thymidine44 249.6HPRT1, FAS, APRT, DCK, PNP, DGUOK
39inosine44 249.5ADA, ADK, PNP, AHCY, APRT, HPRT1
40hypoxanthine44 11 2410.5PNP, HPRT1, AHCY, ADK, APRT, ADA
41adenine44 11 2410.5APRT, AHCY, HPRT1, ADK, ADA, PNP
42Adenosine monophosphate11 249.4APRT, PRPS1, PRPS2, DCK, HPRT1, ADK
43deoxyadenosine44 249.3DGUOK, ADA, ADK, PNP, AHCY, DCK
44adenylate448.3ADK, ADA, HPRT1, PNP, DGUOK, APRT
45prpp448.3DCK, PRPS2, PRPS1, APRT, HPRT1, ADK
46pyrophosphate44 249.2ADK, PNP, HPRT1, APRT, PRPS1, PRPS2
47atp44 289.2ADK, APRT, DCK, AHCY, ADA, PNP
48nucleoside448.0HPRT1, AHCY, APRT, DCK, PNP, ADK
49purine nucleoside448.0ADA, PNP, ADK, HPRT1, AHCY, DCK
50purine44 248.6PNP, AHCY, DCK, APRT, DGUOK, ADK

GO Terms for genes affiliated with Purine Nucleoside Phosphorylase Deficiency

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16Gene Ontology
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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
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39NCIt
40NDF-RT
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44Novoseek
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