PNPD
MCID: PRN001
MIFTS: 55

Purine Nucleoside Phosphorylase Deficiency (PNPD)

Categories: Blood diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Purine Nucleoside Phosphorylase Deficiency

MalaCards integrated aliases for Purine Nucleoside Phosphorylase Deficiency:

Name: Purine Nucleoside Phosphorylase Deficiency 56 12 74 52 25 58 73 43 15
Purine-Nucleoside Phosphorylase Deficiency 12 29 6 39 71
Pnp Deficiency 12 52 25 58
Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency 56 73 13
Nucleoside Phosphorylase Deficiency 56 25 73
Deficiency of Inosine Phosphorylase 12
Pnpase Deficiency 58
Pnpd 73

Characteristics:

Orphanet epidemiological data:

58
purine nucleoside phosphorylase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: early childhood,late childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
purine nucleoside phosphorylase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare immunological diseases


Summaries for Purine Nucleoside Phosphorylase Deficiency

Genetics Home Reference : 25 Purine nucleoside phosphorylase deficiency is a disorder of the immune system called an immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses. People with purine nucleoside phosphorylase deficiency have low numbers of immune system cells called T cells, which normally recognize and attack foreign invaders to prevent infection. Some affected individuals also have low numbers of other immune system cells called B cells, which normally help fight infections by producing immune proteins called antibodies (or immunoglobulins). These proteins target foreign invaders and mark them for destruction. The most severely affected individuals, who lack T cells and B cells, have a serious condition called severe combined immunodeficiency (SCID). The shortage of immune system cells in people with purine nucleoside phosphorylase deficiency results in repeated and persistent infections typically beginning in infancy or early childhood. Infections most commonly affect the sinuses and lungs. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system. The infections can be very serious or life-threatening, and without successful treatment to restore immune function, children with purine nucleoside phosphorylase deficiency usually do not survive past childhood. Infants with purine nucleoside phosphorylase deficiency typically grow more slowly than healthy babies. About two-thirds of individuals with this condition also have neurological problems, which may include developmental delay, intellectual disability, difficulty with balance and coordination (ataxia), and muscle stiffness (spasticity). People with purine nucleoside phosphorylase deficiency are also at increased risk of developing autoimmune disorders, which occur when the immune system malfunctions and attacks the body's tissues and organs.

MalaCards based summary : Purine Nucleoside Phosphorylase Deficiency, also known as purine-nucleoside phosphorylase deficiency, is related to lymphopenia and adenosine deaminase deficiency, and has symptoms including ataxia, tremor and quadriparesis. An important gene associated with Purine Nucleoside Phosphorylase Deficiency is PNP (Purine Nucleoside Phosphorylase), and among its related pathways/superpathways are Metabolism and Metabolism of nucleotides. Affiliated tissues include t cells, b cells and bone, and related phenotypes are abnormal t cell morphology and decreased urinary urate

Disease Ontology : 12 A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has material basis in mutation in the PNP gene and characterized mainly by decreased T-cell function.

NIH Rare Diseases : 52 Purine nucleoside phosphorylase (PNP) deficiency is a disorder of the immune system (primary immunodeficiency ) 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 stiff or rigid muscles (spasticity ), uncoordinated movements (ataxia ), developmental delay , and intellectual disability . In addition, PNP deficiency is associated with an increased risk to develop autoimmune disorders, such as autoimmune hemolytic anemia , idiopathic thrombocytopenic purpura (ITP), autoimmune neutropenia , thyroiditis , and lupus . PNP deficiency is caused by mutations in the PNP gene and is inherited in an autosomal recessive manner. Treatment with bone marrow transplantation can improve the immune system problems associated with this condition, but does not improve the neurologic symptoms.

OMIM : 56 Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment (review by Aust et al., 1992). (613179)

UniProtKB/Swiss-Prot : 73 Purine nucleoside phosphorylase deficiency: A disorder that interrupts both the catabolism of inosine into hypoxanthine and guanosine into guanine, and leads to the accumulation of guanosine, inosine, and their deoxified by-products. The main clinical presentation is recurrent infections due to severe T-cell immunodeficiency. Some patients also have neurologic impairment.

Wikipedia : 74 Purine nucleoside phosphorylase deficiency, is a rare autosomal recessive metabolic disorder which... more...

Related Diseases for Purine Nucleoside Phosphorylase Deficiency

Diseases related to Purine Nucleoside Phosphorylase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 lymphopenia 30.5 ZAP70 RAG1 PNP ADA
2 adenosine deaminase deficiency 30.4 RAG1 PNP AHCY ADA
3 t cell deficiency 30.3 ZAP70 RAG1
4 immune deficiency disease 30.1 ZAP70 RAG1 PNP DCLRE1C ADA
5 lesch-nyhan syndrome 29.8 PNP HPRT1 APRT ADSL
6 common variable immunodeficiency 29.7 ZAP70 RAG1 PNP ADA
7 severe combined immunodeficiency 28.3 ZAP70 RAG1 PNP NHEJ1 DCLRE1C AK2
8 t-cell immunodeficiency with thymic aplasia 11.7
9 ataxia and polyneuropathy, adult-onset 10.6
10 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.5
11 combined t and b cell immunodeficiency 10.5
12 anemia, autoimmune hemolytic 10.5
13 hemolytic anemia 10.5
14 spasticity 10.5
15 abdominal obesity-metabolic syndrome 1 10.4
16 chickenpox 10.4
17 autoimmune disease 10.3
18 immunodeficiency 48 10.3
19 autosomal recessive disease 10.3
20 paraplegia 10.3
21 hypotonia 10.3
22 immunodeficiency 19 10.2 ZAP70 ADA
23 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 10.2
24 systemic lupus erythematosus 10.2
25 thrombocytopenic purpura, autoimmune 10.2
26 orotic aciduria 10.2
27 stroke, ischemic 10.2
28 hurler syndrome 10.2
29 myelodysplastic syndrome 10.2
30 graft-versus-host disease 10.2
31 t-cell lymphoma, subcutaneous panniculitis-like 10.2
32 juvenile arthritis 10.2
33 hemophagocytic lymphohistiocytosis 10.2
34 exanthem 10.2
35 immunoglobulin alpha deficiency 10.2
36 lymphoproliferative syndrome 10.2
37 neuroretinitis 10.2
38 meningoencephalitis 10.2
39 spastic diplegia 10.2
40 hemiplegia 10.2
41 spastic quadriplegia 10.2
42 tetanus 10.2
43 allergic hypersensitivity disease 10.2
44 pulmonary alveolar proteinosis 10.2
45 neutropenia 10.2
46 leukemia 10.2
47 quadriplegia 10.2
48 sclerosing cholangitis 10.2
49 cholera 10.2
50 candidiasis 10.2

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



Diseases related to Purine Nucleoside Phosphorylase Deficiency

Symptoms & Phenotypes for Purine Nucleoside Phosphorylase Deficiency

Human phenotypes related to Purine Nucleoside Phosphorylase Deficiency:

58 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal t cell morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002843
2 decreased urinary urate 58 31 hallmark (90%) Very frequent (99-80%) HP:0011935
3 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
4 severe combined immunodeficiency 58 31 frequent (33%) Frequent (79-30%) HP:0004430
5 autoimmune hemolytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001890
6 hypouricemia 58 31 frequent (33%) Frequent (79-30%) HP:0003537
7 humoral immunodeficiency 58 31 frequent (33%) Frequent (79-30%) HP:0005363
8 unusual gastrointestinal infection 58 31 frequent (33%) Frequent (79-30%) HP:0032166
9 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
10 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
11 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
12 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
13 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
14 neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002664
15 cerebral palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100021
16 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
17 spastic paraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002313
18 decreased proportion of cd3-positive t cells 58 31 occasional (7.5%) Occasional (29-5%) HP:0045080
19 sensorineural hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000407
20 stroke 58 31 very rare (1%) Very rare (<4-1%) HP:0001297
21 autoimmune thrombocytopenia 58 31 very rare (1%) Very rare (<4-1%) HP:0001973
22 systemic lupus erythematosus 58 31 very rare (1%) Very rare (<4-1%) HP:0002725
23 lymphopenia 58 31 Occasional (29-5%) HP:0001888
24 splenomegaly 31 HP:0001744
25 hypertonia 58 Occasional (29-5%)
26 failure to thrive 31 HP:0001508
27 spasticity 58 Occasional (29-5%)
28 sinusitis 31 HP:0000246
29 recurrent upper respiratory tract infections 31 HP:0002788
30 tremor 31 HP:0001337
31 recurrent urinary tract infections 31 HP:0000010
32 autoimmunity 58 Frequent (79-30%)
33 motor delay 31 HP:0001270
34 lymphoma 31 HP:0002665
35 otitis media 31 HP:0000388
36 impaired t cell function 31 HP:0005435
37 abnormality of the nervous system 58 Frequent (79-30%)
38 recurrent infections 58 Frequent (79-30%)
39 pneumonia 31 HP:0002090
40 spastic diplegia 31 HP:0001264
41 tetraparesis 31 HP:0002273
42 generalized hypotonia 31 HP:0001290
43 recurrent bacterial infections 31 HP:0002718
44 neutropenia in presence of anti-neutropil antibodies 31 HP:0001904
45 abnormality of central motor function 58 Occasional (29-5%)
46 recurrent viral infections 31 HP:0004429
47 cerebral vasculitis 31 HP:0005318
48 recurrent lower respiratory tract infections 31 HP:0002783
49 recurrent opportunistic infections 31 HP:0005390
50 lymph node hypoplasia 31 HP:0002732

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Growth Other:
failure to thrive

Immunology:
lymphopenia
defective antibody production
frequent bacterial, viral, and opportunistic infections
small lymph nodes, which lack paracortical regions
small or absent thymus, which contains poorly formed hassal corpuscles
more
Head And Neck Ears:
otitis media

Hematology:
autoimmune hemolytic anemia
idiopathic thrombocytopenia
autoimmune neutropenia

Respiratory Airways:
upper respiratory tract infections
lower respiratory tract infections

Laboratory Abnormalities:
low serum uric acid
reduced erythrocyte purine nucleoside phosphorylase activity
low urine uric acid
high serum inosine levels
high serum guanosine levels
more
Neurologic Central Nervous System:
hypertonia
ataxia
tremor
spastic diplegia
tetraparesis
more
Head And Neck Head:
sinusitis

Neoplasia:
lymphoma
lymphosarcoma

Respiratory Lung:
pneumonia

Cardiovascular Vascular:
cerebral vasculitis

Genitourinary Kidneys:
urinary tract infections

Respiratory Nasopharynx:
atrophic tonsils

Clinical features from OMIM:

613179

UMLS symptoms related to Purine Nucleoside Phosphorylase Deficiency:


ataxia, tremor, quadriparesis

GenomeRNAi Phenotypes related to Purine Nucleoside Phosphorylase Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 9.5 AK2 DCK ZAP70
2 Decreased viability GR00221-A-1 9.5 DCK ZAP70
3 Decreased viability GR00221-A-2 9.5 DCK ZAP70
4 Decreased viability GR00221-A-4 9.5 AK2 DCK
5 Decreased viability GR00240-S-1 9.5 DCK
6 Decreased viability GR00249-S 9.5 ZAP70
7 Decreased viability GR00301-A 9.5 AK2
8 Decreased viability GR00342-S-2 9.5 AK2
9 Decreased viability GR00342-S-3 9.5 AK2
10 Decreased viability GR00386-A-1 9.5 DCK

MGI Mouse Phenotypes related to Purine Nucleoside Phosphorylase Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 ADA DCK DCLRE1C HPRT1 NHEJ1 PNP
2 endocrine/exocrine gland MP:0005379 9.76 ADA DCK DCLRE1C HPRT1 NHEJ1 PNP
3 hematopoietic system MP:0005397 9.65 ADA APRT DCK DCLRE1C HPRT1 NHEJ1
4 immune system MP:0005387 9.32 ADA APRT DCK DCLRE1C HPRT1 NHEJ1

Drugs & Therapeutics for Purine Nucleoside Phosphorylase Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China Unknown status NCT02231983

Search NIH Clinical Center for Purine Nucleoside Phosphorylase Deficiency

Cochrane evidence based reviews: purine nucleoside phosphorylase deficiency

Genetic Tests for Purine Nucleoside Phosphorylase Deficiency

Genetic tests related to Purine Nucleoside Phosphorylase Deficiency:

# Genetic test Affiliating Genes
1 Purine-Nucleoside Phosphorylase Deficiency 29 PNP

Anatomical Context for Purine Nucleoside Phosphorylase Deficiency

MalaCards organs/tissues related to Purine Nucleoside Phosphorylase Deficiency:

40
T Cells, B Cells, Bone, Bone Marrow, Lung, Thyroid, Lymph Node

Publications for Purine Nucleoside Phosphorylase Deficiency

Articles related to Purine Nucleoside Phosphorylase Deficiency:

(show top 50) (show all 138)
# Title Authors PMID Year
1
Mutations in purine nucleoside phosphorylase deficiency. 6 56 61
9067751 1997
2
Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. 56 61 6
1384322 1992
3
A human purine nucleoside phosphorylase deficiency caused by a single base change. 6 56 61
3029074 1987
4
Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient. 56 6
11453975 2001
5
Direct evidence of autosomal recessive inheritance of Arg24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined immunodeficiency patient. 56 6
9737781 1998
6
Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient. 6 56
8931706 1996
7
Purine nucleoside phosphorylase deficiency. 61 56
1931007 1991
8
A new case of purine nucleoside phosphorylase deficiency: enzymologic, clinical, and immunologic characteristics. 56 61
3103087 1987
9
Prenatal exclusion of purine nucleoside phosphorylase deficiency. 56 61
3089796 1986
10
Purine nucleoside phosphorylase deficiency associated with a fatal lymphoproliferative disorder. 56 61
6791594 1981
11
Purine nucleoside phosphorylase deficiency. Measurement of variant protein in four families with enzyme-deficient members by an enzyme-linked immunosorbent assay. 56 61
6778206 1980
12
Purine nucleoside phosphorylase deficiency: improved metabolic and immunologic function with erythrocyte transfusions. 61 56
6774252 1980
13
Purine nucleoside phosphorylase deficiency: biochemical properties and heterogeneity in two families. 56 61
36100 1979
14
Partial purine nucleoside phosphorylase deficiency. Studies of lymphocyte function. 61 56
96131 1978
15
Purine nucleoside phosphorylase deficiency: altered kinetic properties of a mutant enzyme. 61 56
407651 1977
16
Purine nucleoside phosphorylase deficiency. Evidence for molecular heterogeneity in two families with enzyme-deficient members. 56 61
408378 1977
17
Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency. 61 56
402573 1977
18
Point mutations at the purine nucleoside phosphorylase locus impair thymocyte differentiation in the mouse. 56
9122228 1997
19
[Sesquialter dosage effect of erythrocytic and leucocytic nucleoside phosphorylase in two patients with proximal trisomy 14q (author's transl)]. 56
6772087 1980
20
Isolation and characterization of purine-nucleoside phosphorylase-deficient T-lymphoma cells and secondary mutants with altered ribonucleotide reductase: genetic model for immunodeficiency disease. 56
108675 1979
21
Purinogenic immunodeficiency diseases: selective toxicity of deoxyribonucleosides for T cells. 56
311004 1978
22
Orotic aciduria in two unrelated patients with inherited deficiencies of purine nucleoside phosphorylase. 56
406278 1977
23
Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase. 56
825775 1976
24
Familial dysequilibrium-diplegia with T-lymphocyte deficiency. 56
1083213 1975
25
Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity. 56
48676 1975
26
Familial ataxic diplegia with deficient cellular immunity. A new clinical entity. 56
5455521 1970
27
A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma. 61
32514656 2020
28
The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature. 61
30885031 2019
29
Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid. 61
30926434 2019
30
An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome. 61
31118063 2019
31
Infusion of Sibling Marrow in a Patient with Purine Nucleoside Phosphorylase Deficiency Leads to Split Mixed Donor Chimerism and Normal Immunity. 61
28674683 2017
32
Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry. 61
26466166 2016
33
The First Report of a Pregnancy in a Patient with Purine Nucleoside Phosphorylase Deficiency. 61
26882246 2016
34
Urine Purine Metabolite Determination by UPLC-Tandem Mass Spectrometry. 61
26602134 2016
35
A successful unrelated peripheral blood stem cell transplantation with reduced intensity-conditioning regimen in a patient with late-onset purine nucleoside phosphorylase deficiency. 61
25514831 2015
36
Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor. 61
25967230 2015
37
Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism. 61
24940674 2014
38
Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency. 61
23371835 2013
39
Primary immunodeficiency diseases associated with neurologic manifestations. 61
22038677 2012
40
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. 61
23430937 2012
41
Bilateral viral retinitis in a patient with immune deficiency because of purine nucleoside phosphorylase deficiency. 61
25390949 2012
42
Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India. 61
22669887 2011
43
Purine nucleoside phosphorylase deficiency: a mutation update. 61
22132981 2011
44
Effects of purine nucleoside phosphorylase deficiency on thymocyte development. 61
21868080 2011
45
Identification of purine nucleoside phosphorylase deficiency in dried blood spots by a non-radiochemical assay using reversed-phase high-performance liquid chromatography. 61
20544539 2010
46
Purine nucleoside phosphorylase deficiency with fatal course in two sisters. 61
19657670 2010
47
Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients. 61
19584574 2009
48
Lentivirus gene therapy for purine nucleoside phosphorylase deficiency. 61
18924118 2008
49
An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication. 61
18208442 2008
50
Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency. 61
18067860 2008

Variations for Purine Nucleoside Phosphorylase Deficiency

ClinVar genetic disease variations for Purine Nucleoside Phosphorylase Deficiency:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PNP NM_000270.3(PNP):c.575A>G (p.Tyr192Cys)SNV Pathogenic 13993 rs104894452 14:20943334-20943334 14:20475175-20475175
2 PNP PNP, 1-BP DELdeletion Pathogenic 13994
3 PNP NM_000270.3(PNP):c.70C>T (p.Arg24Ter)SNV Pathogenic 13995 rs104894455 14:20940525-20940525 14:20472366-20472366
4 PNP NM_000270.3(PNP):c.172C>T (p.Arg58Ter)SNV Pathogenic 13996 rs104894460 14:20940627-20940627 14:20472468-20472468
5 PNP NM_000270.3(PNP):c.285+1G>ASNV Pathogenic 13997 rs1566525400 14:20942735-20942735 14:20474576-20474576
6 PNP NM_000270.3(PNP):c.265G>A (p.Glu89Lys)SNV Pathogenic 13988 rs104894453 14:20942714-20942714 14:20474555-20474555
7 PNP NM_000270.3(PNP):c.520G>C (p.Ala174Pro)SNV Pathogenic 13989 rs104894454 14:20943279-20943279 14:20475120-20475120
8 PNP NM_000270.3(PNP):c.383A>G (p.Asp128Gly)SNV Pathogenic 13990 rs104894450 14:20943029-20943029 14:20474870-20474870
9 PNP NM_000270.3(PNP):c.701G>C (p.Arg234Pro)SNV Pathogenic/Likely pathogenic 13991 rs104894451 14:20944591-20944591 14:20476432-20476432
10 PNP NM_000270.4(PNP):c.286-18G>ASNV Pathogenic/Likely pathogenic 505116 rs1026474882 14:20942914-20942914 14:20474755-20474755
11 PNP NM_000270.4(PNP):c.181G>T (p.Val61Leu)SNV Likely pathogenic 861659 14:20940636-20940636 14:20472477-20472477
12 PNP NM_000270.3(PNP):c.769C>G (p.His257Asp)SNV Conflicting interpretations of pathogenicity 636509 14:20944659-20944659 14:20476500-20476500
13 PNP NM_000270.3(PNP):c.678C>T (p.Ile226=)SNV Conflicting interpretations of pathogenicity 312735 rs563086985 14:20944568-20944568 14:20476409-20476409
14 PNP NC_000014.9:g.20469375G>ASNV Uncertain significance 881626 14:20937534-20937534 14:20469375-20469375
15 PNP NM_000270.4(PNP):c.12-7C>ASNV Uncertain significance 882786 14:20940460-20940460 14:20472301-20472301
16 PNP NM_000270.3(PNP):c.*317G>ASNV Uncertain significance 312740 rs747293719 14:20945077-20945077 14:20476918-20476918
17 PNP NM_000270.3(PNP):c.66G>C (p.Lys22Asn)SNV Uncertain significance 312728 rs886050387 14:20940521-20940521 14:20472362-20472362
18 PNP NM_000270.3(PNP):c.377T>C (p.Val126Ala)SNV Uncertain significance 312731 rs886050388 14:20943023-20943023 14:20474864-20474864
19 PNP NM_000270.3(PNP):c.549G>T (p.Glu183Asp)SNV Uncertain significance 312732 rs886050389 14:20943308-20943308 14:20475149-20475149
20 PNP NM_000270.3(PNP):c.653-9C>TSNV Uncertain significance 312734 rs886050390 14:20944534-20944534 14:20476375-20476375
21 PNP NM_000270.3(PNP):c.*372G>CSNV Uncertain significance 312741 rs149943917 14:20945132-20945132 14:20476973-20476973
22 PNP NM_000270.3(PNP):c.778_790delinsCA (p.Val260fs)indel Uncertain significance 312736 rs886050391 14:20944668-20944680 14:20476509-20476521
23 PNP NM_000270.3(PNP):c.*506_*513deldeletion Uncertain significance 312743 rs566633953 14:20945263-20945270 14:20477104-20477111
24 PNP NM_000270.3(PNP):c.78A>G (p.Gln26=)SNV Uncertain significance 644257 14:20940533-20940533 14:20472374-20472374
25 PNP NM_000270.3(PNP):c.230C>G (p.Ala77Gly)SNV Uncertain significance 656565 14:20942679-20942679 14:20474520-20474520
26 PNP NM_000270.3(PNP):c.260T>A (p.Met87Lys)SNV Uncertain significance 659780 14:20942709-20942709 14:20474550-20474550
27 PNP NM_000270.3(PNP):c.553C>T (p.Arg185Cys)SNV Uncertain significance 651865 14:20943312-20943312 14:20475153-20475153
28 PNP NM_000270.3(PNP):c.685C>T (p.Arg229Trp)SNV Uncertain significance 655041 14:20944575-20944575 14:20476416-20476416
29 PNP NM_000270.3(PNP):c.410A>G (p.Asn137Ser)SNV Uncertain significance 522741 rs766527065 14:20943056-20943056 14:20474897-20474897
30 PNP NM_000270.3(PNP):c.482C>T (p.Ala161Val)SNV Uncertain significance 529206 rs150531909 14:20943241-20943241 14:20475082-20475082
31 PNP NM_000270.3(PNP):c.553C>A (p.Arg185Ser)SNV Uncertain significance 430407 rs373569964 14:20943312-20943312 14:20475153-20475153
32 PNP NM_000270.3(PNP):c.503G>A (p.Arg168Gln)SNV Uncertain significance 453186 rs376788669 14:20943262-20943262 14:20475103-20475103
33 PNP NM_000270.3(PNP):c.10G>C (p.Gly4Arg)SNV Uncertain significance 459611 rs764019813 14:20937693-20937693 14:20469534-20469534
34 PNP NM_000270.4(PNP):c.436C>A (p.Pro146Thr)SNV Uncertain significance 858334 14:20943082-20943082 14:20474923-20474923
35 PNP NM_000270.4(PNP):c.476T>A (p.Phe159Tyr)SNV Uncertain significance 854693 14:20943235-20943235 14:20475076-20475076
36 PNP NM_000270.4(PNP):c.569G>A (p.Gly190Asp)SNV Uncertain significance 853694 14:20943328-20943328 14:20475169-20475169
37 PNP NM_000270.4(PNP):c.751del (p.Ser251fs)deletion Uncertain significance 845655 14:20944639-20944639 14:20476480-20476480
38 PNP NM_000270.4(PNP):c.844A>G (p.Ile282Val)SNV Uncertain significance 840386 14:20944734-20944734 14:20476575-20476575
39 PNP NC_000014.9:g.20469396C>ASNV Uncertain significance 881627 14:20937555-20937555 14:20469396-20469396
40 PNP NM_000270.4(PNP):c.645C>T (p.Asp215=)SNV Uncertain significance 883573 14:20943404-20943404 14:20475245-20475245
41 PNP NM_000270.4(PNP):c.686G>A (p.Arg229Gln)SNV Uncertain significance 881207 14:20944576-20944576 14:20476417-20476417
42 PNP NM_000270.4(PNP):c.718C>T (p.Leu240Phe)SNV Uncertain significance 881208 14:20944608-20944608 14:20476449-20476449
43 PNP NM_000270.4(PNP):c.*15G>ASNV Uncertain significance 881209 14:20944775-20944775 14:20476616-20476616
44 PNP NM_000270.4(PNP):c.*78T>CSNV Uncertain significance 881210 14:20944838-20944838 14:20476679-20476679
45 PNP NM_000270.3(PNP):c.466G>A (p.Gly156Arg)SNV Uncertain significance 529207 rs1555333844 14:20943225-20943225 14:20475066-20475066
46 PNP NM_000270.3(PNP):c.404A>G (p.His135Arg)SNV Uncertain significance 581170 rs1566525632 14:20943050-20943050 14:20474891-20474891
47 PNP NM_000270.3(PNP):c.246G>T (p.Gln82His)SNV Uncertain significance 573884 rs779297442 14:20942695-20942695 14:20474536-20474536
48 PNP NM_000270.3(PNP):c.461G>A (p.Arg154Lys)SNV Uncertain significance 565932 rs1566525680 14:20943107-20943107 14:20474948-20474948
49 PNP NM_000270.3(PNP):c.815A>G (p.Glu272Gly)SNV Uncertain significance 579963 rs773751064 14:20944705-20944705 14:20476546-20476546
50 PNP NM_000270.3(PNP):c.16A>C (p.Thr6Pro)SNV Uncertain significance 572933 rs763321970 14:20940471-20940471 14:20472312-20472312

UniProtKB/Swiss-Prot genetic disease variations for Purine Nucleoside Phosphorylase Deficiency:

73
# Symbol AA change Variation ID SNP ID
1 PNP p.Glu89Lys VAR_002244 rs104894453
2 PNP p.Asp128Gly VAR_002245 rs104894450
3 PNP p.Ala174Pro VAR_002246 rs104894454
4 PNP p.Arg234Pro VAR_002247 rs104894451
5 PNP p.Tyr192Cys VAR_010653 rs104894452

Expression for Purine Nucleoside Phosphorylase Deficiency

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

Pathways for Purine Nucleoside Phosphorylase Deficiency

Pathways related to Purine Nucleoside Phosphorylase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 PRPS2 PNP HPRT1 DCK APRT AK2
2
Show member pathways
12.24 PRPS2 PNP HPRT1 DCK APRT AK2
3
Show member pathways
11.77 PNP HPRT1 APRT AK2 ADA
4 11.04 ZAP70 RAG1 DCLRE1C ADA
5 11.03 PNP HPRT1 APRT AK2 ADSL ADA
6 10.78 PRPS2 HPRT1 ADSL

GO Terms for Purine Nucleoside Phosphorylase Deficiency

Cellular components related to Purine Nucleoside Phosphorylase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nonhomologous end joining complex GO:0070419 8.62 NHEJ1 DCLRE1C

Biological processes related to Purine Nucleoside Phosphorylase Deficiency according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.77 AHCY ADSL ADA
2 B cell differentiation GO:0030183 9.71 RAG1 NHEJ1 DCLRE1C
3 T cell differentiation GO:0030217 9.61 ZAP70 NHEJ1
4 purine nucleotide metabolic process GO:0006163 9.59 AK2 ADSL
5 positive regulation of calcium-mediated signaling GO:0050850 9.58 ZAP70 ADA
6 regulation of T cell differentiation GO:0045580 9.58 RAG1 ADA
7 positive regulation of T cell differentiation GO:0045582 9.58 ZAP70 RAG1 ADA
8 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.57 ADSL ADA
9 grooming behavior GO:0007625 9.56 HPRT1 APRT
10 nucleobase-containing compound metabolic process GO:0006139 9.56 PRPS2 PNP DCK AK2
11 V(D)J recombination GO:0033151 9.55 RAG1 DCLRE1C
12 purine nucleotide biosynthetic process GO:0006164 9.54 PRPS2 HPRT1 ADSL
13 negative regulation of thymocyte apoptotic process GO:0070244 9.52 RAG1 ADA
14 ribonucleoside monophosphate biosynthetic process GO:0009156 9.51 PRPS2 ADSL
15 nucleotide biosynthetic process GO:0009165 9.5 PRPS2 PNP DCK
16 purine ribonucleoside salvage GO:0006166 9.49 HPRT1 APRT
17 adenine metabolic process GO:0046083 9.48 HPRT1 APRT
18 hypoxanthine salvage GO:0043103 9.46 HPRT1 ADA
19 adenine salvage GO:0006168 9.43 HPRT1 APRT
20 positive regulation of alpha-beta T cell differentiation GO:0046638 9.33 ZAP70 PNP ADA
21 nucleoside metabolic process GO:0009116 9.26 PRPS2 PNP HPRT1 APRT
22 purine-containing compound salvage GO:0043101 9.02 PNP HPRT1 DCK APRT ADA

Molecular functions related to Purine Nucleoside Phosphorylase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.43 RAG1 PRPS2 PNP HPRT1 AHCY ADSL
2 transferase activity, transferring glycosyl groups GO:0016757 9.33 PNP HPRT1 APRT
3 transferase activity GO:0016740 9.23 ZAP70 RAG1 PRPS2 PNP HPRT1 DCK

Sources for Purine Nucleoside Phosphorylase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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