MCID: PRN001
MIFTS: 55

Purine Nucleoside Phosphorylase Deficiency malady

Immune diseases category

Summaries for Purine Nucleoside Phosphorylase Deficiency

About this section
Sources:
8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

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

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


External Ids:

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

Related Diseases for Purine Nucleoside Phosphorylase Deficiency

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

613179

Drugs & Therapeutics for Purine Nucleoside Phosphorylase Deficiency

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Purine Nucleoside Phosphorylase Deficiency

Drug clinical trials:

Search ClinicalTrials for Purine Nucleoside Phosphorylase Deficiency

Search NIH Clinical Center for Purine Nucleoside Phosphorylase Deficiency

Search CenterWatch for Purine Nucleoside Phosphorylase Deficiency

Genetic Tests for Purine Nucleoside Phosphorylase Deficiency

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
32MalaCards
See all sources

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

About this section
Sources:
36MGI
See all sources

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

About this section
Sources:
50PubMed
See all sources

Articles related to Purine Nucleoside Phosphorylase Deficiency:

(show top 50)    (show all 90)
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
Effects of purine nucleoside phosphorylase deficiency on thymocyte development. (21868080)
2011
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
Lentivirus gene therapy for purine nucleoside phosphorylase deficiency. (18924118)
2008
9
Progressive multifocal leukoencephalopathy in purine nucleoside phosphorylase deficiency. (16949240)
2007
10
Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency. (17910661)
2007
11
Intracellular delivery of purine nucleoside phosphorylase (PNP) fused to protein transduction domain corrects PNP deficiency in vitro. (16930574)
2006
12
Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency. (11902746)
2002
13
Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient. (11453975)
2001
14
High IL-18 (interferon-gamma inducing factor) concentration in a purine nucleoside phosphorylase deficient patient. (10490534)
1999
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
Liquid-chromatographic study of purine metabolism abnormalities in purine nucleoside phosphorylase deficiency. (8595732)
1996
21
Correction of proliferative responses in purine nucleoside phosphorylase (PNP)-deficient T lymphocytes by retroviral-mediated PNP gene transfer and expression. (7876563)
1995
22
Secondary loss of deoxyguanosine kinase activity in purine nucleoside phosphorylase deficient mice. (7918681)
1994
23
Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. (1384322)
1992
24
Correction of purine nucleoside phosphorylase deficiency by retroviral-mediated gene transfer in mouse S49 T cell lymphoma: a model for gene therapy of T cell immunodeficiency. (1482702)
1992
25
Mechanisms of deoxyguanosine lymphotoxicity. Human thymocytes, but not peripheral blood lymphocytes accumulate deoxy-GTP in conditions simulating purine nucleoside phosphorylase deficiency. (2104895)
1990
26
Clinico-biochemical and molecular studies of purine nucleoside phosphorylase deficiency. (2516410)
1989
27
Prenatal diagnosis of purine nucleoside phosphorylase deficiency in the first and second trimesters of pregnancy. (2503819)
1989
28
High risk screening of adenosine deaminase and purine nucleoside phosphorylase deficiency in Japan. (3144840)
1987
29
Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency. (2439024)
1987
30
An erythrocyte Pr auto-antibody with sialoglycoprotein specificity in a patient with purine nucleoside phosphorylase deficiency. (2580378)
1985
31
Immune deficiency due to adenosine deaminase and purine nucleoside phosphorylase deficiency: a simple diagnostic test. (6438186)
1984
32
Mononuclear cells in S-phase in a patient with purine nucleoside phosphorylase deficiency. (6426264)
1984
33
The mechanism of inhibition and "reversal" of mitogen-induced lymphocyte activation in a model of purine-nucleoside phosphorylase deficiency. (6428752)
1984
34
The effect of deoxycytidine and tetrahydrouridine in purine nucleoside phosphorylase deficiency. (6426260)
1984
35
On the metabolism of allopurinol. Formation of allopurinol-1-riboside in purine nucleoside phosphorylase deficiency. (6409116)
1983
36
Possible metabolic basis for the different immunodeficient states associated with genetic deficiencies of adenosine deaminase and purine nucleoside phosphorylase. (6808516)
1982
37
Purine nucleoside phosphorylase deficiency associated with a fatal lymphoproliferative disorder. (6791594)
1981
38
Altered purine and pyrimidine metabolism in erythrocytes with purine nucleoside phosphorylase deficiency. (6160848)
1980
39
Phosphorylation of deoxyguanosine by B and T lymphocytes: evidence against selective trapping of deoxyguanosine by T lymphocytes in purine nucleoside phosphorylase deficiency. (6783354)
1980
40
Cellular immune deficiency with autoimmune hemolytic anemia in purine nucleoside phosphorylase deficiency. (111549)
1979
41
Purine nucleoside phosphorylase deficiency: biochemical properties and heterogeneity in two families. (36100)
1979
42
Deoxyribonucleoside toxicity in adenosine deaminase and purine nucleoside phosphorylase deficiency: implications for the development of new immunosuppressive agents. (115660)
1978
43
Purine metabolism and immunodeficiency: urinary purine excretion as a diagnostic screening test in adenosine deaminase and purine nucleoside phosphorylase deficiency. (108044)
1978
44
Absence of oroticaciduria in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. (108039)
1978
45
Screening for primary immunodeficiencies associated with purine nucleoside phosphorylase deficiency or adenosine deaminase deficiency. (409794)
1977
46
Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency. (402573)
1977
47
Incorporation of purine nucleosides in cultured fibroblasts from a patient with purine nucleoside phosphorylase deficiency and associated T-cell immunodeficiency. (408357)
1977
48
Lymphospecific toxicity in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency: possible role of nucleoside kinase(s). (202960)
1977
49
Purine nucleoside phosphorylase deficiency: altered kinetic properties of a mutant enzyme. (407651)
1977
50
Urinary purines in a patient with a severely defective T cell immunity and a purine nucleoside phosphorylase deficiency. (404853)
1977

Genetic Variations for Purine Nucleoside Phosphorylase Deficiency

About this section

Expression for genes affiliated with Purine Nucleoside Phosphorylase Deficiency

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
37NCBI BioSystems Database, 29KEGG, 53Reactome, 49PharmGKB, 12EMD Millipore
See all sources

Compounds for genes affiliated with Purine Nucleoside Phosphorylase Deficiency

About this section
Sources:
44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience, 28IUPHAR
See all sources

Compounds related to Purine Nucleoside Phosphorylase Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 108)
idCompoundScoreTop Affiliating Genes
12,2-difluorodeoxyguanosine4410.1DGUOK, DCK
29-deazaguanine44 1110.9HPRT1, PNP
3deoxyuridine44 2410.9DCK, DGUOK, PNP
48-azaguanine44 1110.8PNP, HPRT1
56 thioguanine449.8DCK, HPRT1, PNP
6tubercidin449.7AHCY, ADK
75-amino-5-deoxyadenosine449.7ADK, ADA
8Alpha-Phosphoribosylpyrophosphoric Acid119.7HPRT1, APRT
9adenylosuccinate449.6APRT, ADK, PNP
109-(beta-d-arabinofuranosyl)guanine449.6DCK, ADA, PNP, DGUOK
11nelarabine44 1110.6DGUOK, ADA, PNP, DCK
12dgtp44 2410.6PNP, DCK, HPRT1, DGUOK
13didanosine44 1110.5ADA, PNP, HPRT1, DGUOK
142,8-dihydroxyadenine449.5APRT, HPRT1
15ribose449.5AHCY, PNP, ADK
16uric acid44 2410.4PNP, HPRT1, PRPS1, APRT
17allopurinol44 49 1111.4ADA, APRT, HPRT1
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, ADA, ADK, AHCY
23cytarabine44 49 1111.1ADA, DGUOK, FAS, DCK
24guanine44 11 2411.1ADA, PNP, HPRT1, DCK, APRT
25guanosine44 11 2411.1ADA, DGUOK, DCK, ADK, PNP
26pyrimidine44 2410.1ADK, PNP, ADA, DCK, DGUOK
272-chlorodeoxyadenosine449.0ADA, DGUOK, FAS, PNP, DCK
28fludarabine44 1110.0PNP, ADA, DCK, FAS, DGUOK
29thymidylate449.0FAS, DGUOK, HPRT1, DCK, PNP
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
35carbon448.8FAS, ADA, HPRT1, PNP
36deoxyguanosine44 249.8DGUOK, DCK, PNP, ADK, ADA, HPRT1
37deoxycytidine44 249.8ADA, ADK, PNP, HPRT1, DGUOK, DCK
38thymidine44 249.6DCK, HPRT1, PNP, FAS, APRT, 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 249.4HPRT1, DCK, PRPS2, PRPS1, APRT, ADK
43deoxyadenosine44 249.3DGUOK, ADA, ADK, PNP, AHCY, DCK
44adenylate448.3DGUOK, ADK, APRT, HPRT1, ADA, DCK
45prpp448.3DCK, PRPS2, PRPS1, APRT, HPRT1, ADK
46pyrophosphate44 249.2ADK, PNP, HPRT1, APRT, PRPS1, PRPS2
47atp44 289.2DCK, ADA, ADK, PNP, DGUOK, AHCY
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

About this section
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:03441810.1PRPS1, PNP
2adenine salvageGO:0061689.9APRT, HPRT1
3hypoxanthine salvageGO:0431039.9HPRT1, ADA
4AMP salvageGO:0442099.8APRT, ADK
5purine nucleotide biosynthetic processGO:0061649.8PRPS1, HPRT1
6ribonucleoside monophosphate biosynthetic processGO:0091569.8PRPS1, ADK
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:0061399.7PNP, PRPS2
10purine ribonucleoside salvageGO:0061669.5ADK, HPRT1, APRT
11grooming behaviorGO:0076259.5HPRT1, APRT
12purine-containing compound salvageGO:0431018.3DGUOK, APRT, DCK, HPRT1, PNP, ADK
13nucleobase-containing small molecule metabolic processGO:0550868.2DGUOK, APRT, DCK, HPRT1, PNP, ADK
14purine nucleobase metabolic processGO:0061447.9ADA, DGUOK, ADK, PNP, HPRT1, DCK
15small molecule metabolic processGO:0442817.5DGUOK, APRT, PRPS1, DCK, AHCY, HPRT1

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Purine Nucleoside Phosphorylase Deficiency

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet