MCID: PRN001
MIFTS: 59

Purine Nucleoside Phosphorylase Deficiency malady

Genetic diseases, Rare diseases, Immune diseases categories
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Summaries for Purine Nucleoside Phosphorylase Deficiency

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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 based summary: 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: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:65 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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Purine Nucleoside Phosphorylase Deficiency, Aliases & Descriptions:

Name: Purine Nucleoside Phosphorylase Deficiency 8 42 21 10
Purine Nucleoside Phosphorylase 9 20 22
Pnp Deficiency 8 42 21
 
Purine-Nucleoside Phosphorylase Deficiency 8 62
Deficiency of Inosine Phosphorylase 8 62
Nucleoside Phosphorylase Deficiency 21


Classifications:

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


External Ids:

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

Related Diseases for Purine Nucleoside Phosphorylase Deficiency

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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 deficiency31.4ADA, PNP
2malaria31.1HPRT1, PNP
3pancreatic cancer30.8PNP, DCK, FAS
4chronic lymphocytic leukemia30.8ADA, DCK, PNP
5lymphopenia30.6PNP, ADA, FAS
6severe combined immunodeficiency30.5PNP, AHCY, ADA
7adenocarcinoma30.5FAS, ADA, DCK, PNP
8t-cell leukemia30.5FAS, ADA, PNP
9melanoma30.3PNP, ADA, FAS, HPRT1
10non-hodgkin lymphoma30.2HPRT1, FAS, ADA, PNP
11leukemia29.6PNP, AHCY, APRT, DCK, ADA, FAS
12immunodeficiency due to purine nucleoside phosphorylase deficiency10.8
13pancreatitis10.7
14paraplegia10.6
15spasticity10.6
16hepatocellular carcinoma10.5
17tuberculosis10.5
18primary immunodeficiency disease10.5PNP
19common variable immunodeficiency10.4
20graft versus host disease10.4
21hematopoietic stem cell transplantation10.4
22hemolytic anemia10.4
23progressive multifocal leukoencephalopathy10.4
24autoimmune hemolytic anemia10.4
25retinitis10.4
26alzheimer's disease10.3
27cerebral malaria10.3
28orotic aciduria10.3
29cerebritis10.3
30lymphoblastic leukemia10.3
31neuroblastoma10.3
32periodontal disease10.3
33periodontitis10.3
34psoriasis10.3
35schistosomiasis10.3
36t cell deficiency10.3
37hprt-related gout10.2APRT, HPRT1
38hyperuricemia10.1HPRT1, APRT
39sclerosing cholangitis10.1
40cholangitis10.1
41nephrolithiasis10.1APRT, HPRT1
42hairy cell leukemia10.1DCK, ADA
43autoimmune thyroiditis10.1PNP, DCK, FAS
44metabolic syndrome x10.0PNP, APRT, ADA
45aplastic anemia10.0HPRT1, FAS
46hematologic cancer10.0ADA, DCK, PNP
47cutaneous t cell lymphoma10.0PNP, ADA, FAS
48precursor t-cell acute lymphoblastic leukemia10.0PNP, ADA, HPRT1
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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Clinical features from OMIM:

613179

Drugs & Therapeutics for Purine Nucleoside Phosphorylase Deficiency

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Drug clinical trials:

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Search NIH Clinical Center for Purine Nucleoside Phosphorylase Deficiency

Genetic Tests for Purine Nucleoside Phosphorylase Deficiency

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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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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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MGI Mouse Phenotypes related to Purine Nucleoside Phosphorylase Deficiency:

36
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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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
Bilateral viral retinitis in a patient with immune deficiency because of purine nucleoside phosphorylase deficiency. (25390949)
2012
3
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
4
Purine nucleoside phosphorylase deficiency: a mutation update. (22132981)
2011
5
Identification of purine nucleoside phosphorylase deficiency in dried blood spots by a non-radiochemical assay using reversed-phase high-performance liquid chromatography. (20544539)
2010
6
Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients. (19584574)
2009
7
An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication. (18208442)
2008
8
Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency. (18067860)
2008
9
Progressive multifocal leukoencephalopathy in purine nucleoside phosphorylase deficiency. (16949240)
2007
10
Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections. (17641261)
2007
11
Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency. (17910661)
2007
12
Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency. (15571269)
2004
13
Familial spastic paraplegia as the presenting manifestation in patients with purine nucleoside phosphorylase deficiency. (12693783)
2003
14
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
15
Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency. (11902746)
2002
16
Adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency in common variable immunodeficiency. (9605997)
1998
17
Mutations in purine nucleoside phosphorylase deficiency. (9067751)
1997
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
Secondary loss of deoxyguanosine kinase activity in purine nucleoside phosphorylase deficient mice. (7918681)
1994
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
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
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
High risk screening of adenosine deaminase and purine nucleoside phosphorylase deficiency in Japan. (3144840)
1987
28
Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency. (2439024)
1987
29
A human purine nucleoside phosphorylase deficiency caused by a single base change. (3029074)
1987
30
A new case of purine nucleoside phosphorylase deficiency: enzymologic, clinical, and immunologic characteristics. (3103087)
1987
31
A rat model of purine nucleoside phosphorylase deficiency. (3019875)
1986
32
A canine model of induced purine nucleoside phosphorylase deficiency. (3026696)
1986
33
Molecular basis of a human purine nucleoside phosphorylase deficiency. (3107883)
1986
34
Prenatal exclusion of purine nucleoside phosphorylase deficiency. (3089796)
1986
35
An erythrocyte Pr auto-antibody with sialoglycoprotein specificity in a patient with purine nucleoside phosphorylase deficiency. (2580378)
1985
36
Inosine formation from hypoxanthine by intact erythrocytes and fibroblasts of an immunodeficient child with purine nucleoside phosphorylase deficiency. (6426263)
1984
37
Immune deficiency due to adenosine deaminase and purine nucleoside phosphorylase deficiency: a simple diagnostic test. (6438186)
1984
38
Mononuclear cells in S-phase in a patient with purine nucleoside phosphorylase deficiency. (6426264)
1984
39
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
40
On the metabolism of allopurinol. Formation of allopurinol-1-riboside in purine nucleoside phosphorylase deficiency. (6409116)
1983
41
Purine nucleoside phosphorylase deficiency associated with a fatal lymphoproliferative disorder. (6791594)
1981
42
Altered purine and pyrimidine metabolism in erythrocytes with purine nucleoside phosphorylase deficiency. (6160848)
1980
43
Purine nucleoside phosphorylase deficiency: improved metabolic and immunologic function with erythrocyte transfusions. (6774252)
1980
44
Purine nucleoside phosphorylase deficiency: a molecular model for selective loss of T cell function. (109531)
1979
45
Cellular immune deficiency with autoimmune hemolytic anemia in purine nucleoside phosphorylase deficiency. (111549)
1979
46
Purine nucleoside phosphorylase deficiency: biochemical properties and heterogeneity in two families. (36100)
1979
47
Deoxyribonucleoside toxicity in adenosine deaminase and purine nucleoside phosphorylase deficiency: implications for the development of new immunosuppressive agents. (115660)
1978
48
Purine metabolism and immunodeficiency: urinary purine excretion as a diagnostic screening test in adenosine deaminase and purine nucleoside phosphorylase deficiency. (108044)
1978
49
Screening for primary immunodeficiencies associated with purine nucleoside phosphorylase deficiency or adenosine deaminase deficiency. (409794)
1977
50
Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency. (402573)
1977

Variations for Purine Nucleoside Phosphorylase Deficiency

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Expression for genes affiliated with Purine Nucleoside Phosphorylase Deficiency

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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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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 Metabolism37
dTMP de novo biosynthesis (mitochondrial)37
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate37
Trans-sulfuration and one carbon metabolism37
methionine salvage37
Methionine metabolism60
9.1HPRT1, ADA, AHCY
3
Show member pathways
guanosine nucleotides de novo biosynthesis37
guanosine ribonucleotides de novo biosynthesis37
adenosine ribonucleotides de novo biosynthesis37
purine nucleotides de novo biosynthesis37
8.9PNP, APRT, ADA, HPRT1
4
Show member pathways
purine deoxyribonucleosides degradation37
purine nucleotides degradation37
adenine and adenosine salvage II37
adenine and adenosine salvage III37
oxidized GTP and dGTP detoxification37
urate biosynthesis/inosine 5-phosphate degradation37
adenine and adenosine salvage I37
purine ribonucleosides degradation to ribose-1-phosphate37
inosine-5-phosphate biosynthesis37
guanosine nucleotides degradation37
guanine and guanosine salvage37
adenosine nucleotides degradation37
5-aminoimidazole ribonucleotide biosynthesis37
8.6PNP, APRT, DCK, ADA, HPRT1
5
Show member pathways
UTP and CTP dephosphorylation II37
ATP ITP metabolism60
purine deoxyribonucleosides salvage37
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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Compounds related to Purine Nucleoside Phosphorylase Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 101)
idCompoundScoreTop Affiliating Genes
19-deazaguanine44 1111.0PNP, HPRT1
28-azaguanine44 1111.0HPRT1, PNP
32,8-dihydroxyadenine4410.0APRT, HPRT1
4deoxyinosine44 2411.0ADA, PNP
52,6-diaminopurine449.9ADA, APRT
69-(beta-d-arabinofuranosyl)guanine449.7DCK, PNP, ADA
76 thioguanine449.7DCK, PNP, HPRT1
8nelarabine44 1110.7DCK, PNP, ADA
9ethyl methanesulfonate449.7APRT, HPRT1
10pentostatin44 61 28 1112.7ADA, DCK, PNP
11dgtp44 2410.7HPRT1, DCK, PNP
12didanosine44 50 1111.7HPRT1, ADA, PNP
13neplanocin a449.6ADA, AHCY
14allopurinol44 50 1111.6ADA, APRT, HPRT1
15Phosphoribosyl pyrophosphate249.6HPRT1, APRT, PRPS2
16guanosine44 24 1111.5DCK, PNP, ADA
172 chloroadenosine449.5AHCY, ADA, DCK
18pyrimidine44 2410.5PNP, DCK, ADA
19uric acid44 2410.5APRT, PNP, HPRT1
20ribavirin44 50 1111.4ADA, PNP, AHCY
21deoxyguanosine44 2410.3PNP, DCK, HPRT1, ADA
22deoxynucleoside449.3ADA, DCK
23xanthine44 2410.3PNP, APRT, HPRT1, ADA
24deoxycytidine44 2410.3ADA, HPRT1, PNP, DCK
25inosine monophosphate449.3HPRT1, PNP, APRT, AHCY
265-methylthioadenosine449.3ADA, APRT, AHCY, PNP
27adenosine28 24 1111.2DCK, AHCY, PNP, ADA
28s-adenosylhomocysteine44 2410.2PNP, ADA, AHCY, APRT
29zidovudine44 50 1111.1HPRT1, ADA, DCK
302-chlorodeoxyadenosine449.1DCK, PNP, FAS, ADA
31thymidylate449.1DCK, HPRT1, FAS, PNP
32Adenosine monophosphate24 1110.1APRT, DCK, HPRT1, PRPS2
33fludarabine44 50 1111.1FAS, ADA, PNP, DCK
34carbon449.0FAS, PNP, ADA, HPRT1
35guanine44 24 1111.0PNP, APRT, HPRT1, ADA, DCK
36prpp449.0HPRT1, DCK, APRT, PNP, PRPS2
37deoxyadenosine44 249.9ADA, APRT, AHCY, PNP, DCK
38adenylate448.9APRT, HPRT1, ADA, DCK, PNP
39pyrophosphate44 249.9APRT, DCK, PNP, PRPS2, HPRT1
40inosine44 249.9AHCY, ADA, PNP, HPRT1, APRT
41hypoxanthine44 24 1110.9HPRT1, ADA, APRT, PNP, AHCY
42adenine44 24 1110.8ADA, HPRT1, AHCY, PNP, APRT
43thymidine44 249.8HPRT1, FAS, PNP, DCK, APRT
44creatinine448.7APRT, PNP, ADA, FAS, HPRT1
45h2o2448.6ADA, FAS, HPRT1, PNP, APRT
46atp44 289.6DCK, AHCY, APRT, PNP, ADA
47purine nucleoside448.5ADA, DCK, PNP, AHCY, APRT, HPRT1
48purine44 249.5APRT, PNP, DCK, AHCY, ADA, HPRT1
49nucleoside448.5AHCY, APRT, DCK, ADA, HPRT1, PNP
50cysteine448.1FAS, ADA, AHCY, PNP, HPRT1

GO Terms for genes affiliated with Purine Nucleoside Phosphorylase Deficiency

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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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Sources for Purine Nucleoside Phosphorylase Deficiency

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
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