PNPD
MCID: PRN001
MIFTS: 53

Purine Nucleoside Phosphorylase Deficiency (PNPD)

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

Aliases & Classifications for Purine Nucleoside Phosphorylase Deficiency

MalaCards integrated aliases for Purine Nucleoside Phosphorylase Deficiency:

Name: Purine Nucleoside Phosphorylase Deficiency 57 12 73 20 43 58 72 44 15
Purine-Nucleoside Phosphorylase Deficiency 12 29 6 39 70
Pnp Deficiency 12 20 43 58
Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency 57 72 13
Nucleoside Phosphorylase Deficiency 57 43 72
Deficiency of Inosine Phosphorylase 12
Pnpase Deficiency 58
Pnpd 72

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®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
purine nucleoside phosphorylase deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare immunological diseases


Summaries for Purine Nucleoside Phosphorylase Deficiency

MedlinePlus Genetics : 43 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 t cell deficiency and lesch-nyhan syndrome, 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 of nucleotides and purine nucleotides de novo biosynthesis. Affiliated tissues include t cells, b cells and bone marrow, and related phenotypes are decreased urinary urate and recurrent respiratory infections

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.

GARD : 20 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® : 57 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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 93)
# Related Disease Score Top Affiliating Genes
1 t cell deficiency 30.5 ZAP70 RAG1
2 lesch-nyhan syndrome 30.1 PNP HPRT1 APRT ADSL ADA
3 progressive multifocal leukoencephalopathy 29.9 RAG1 PNP
4 common variable immunodeficiency 29.9 ZAP70 RAG1 PNP ADA
5 adenosine deaminase deficiency 29.8 RAG1 PNP AK2 AHCY ADSL ADA
6 ataxia-telangiectasia 29.6 RAG1 HPRT1 DCLRE1C
7 immune deficiency disease 29.0 ZAP70 RFXANK RAG1 PNP DCLRE1C ADA
8 severe combined immunodeficiency 28.7 ZAP70 RFXANK RAG1 PNP NHEJ1 DCLRE1C
9 combined immunodeficiency 28.6 ZAP70 RFXANK RAG1 PNP NHEJ1 DCLRE1C
10 t-cell immunodeficiency with thymic aplasia 11.4
11 lymphopenia 10.7
12 ataxia and polyneuropathy, adult-onset 10.5
13 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.5
14 anemia, autoimmune hemolytic 10.5
15 hemolytic anemia 10.5
16 spasticity 10.5
17 abdominal obesity-metabolic syndrome 1 10.4
18 chickenpox 10.4
19 autosomal recessive disease 10.3
20 neutropenia 10.3
21 agammaglobulinemia 10.3
22 paraplegia 10.3
23 hypotonia 10.3
24 molybdenum cofactor deficiency 10.3 PNP ADSL
25 autoimmune disease 10.2
26 systemic lupus erythematosus 10.2
27 thrombocytopenic purpura, autoimmune 10.2
28 orotic aciduria 10.2
29 hurler syndrome 10.2
30 myelodysplastic syndrome 10.2
31 graft-versus-host disease 10.2
32 spastic paraplegia, intellectual disability, nystagmus, and obesity 10.2
33 t-cell lymphoma, subcutaneous panniculitis-like 10.2
34 hemophagocytic lymphohistiocytosis 10.2
35 exanthem 10.2
36 immunoglobulin alpha deficiency 10.2
37 lymphoma 10.2
38 lymphoproliferative syndrome 10.2
39 hepatic veno-occlusive disease 10.2
40 neuroretinitis 10.2
41 meningoencephalitis 10.2
42 spastic diplegia 10.2
43 hemiplegia 10.2
44 spastic quadriplegia 10.2
45 tetanus 10.2
46 allergic disease 10.2
47 leukemia 10.2
48 telangiectasis 10.2
49 quadriplegia 10.2
50 sclerosing cholangitis 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 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased urinary urate 58 31 hallmark (90%) Very frequent (99-80%) HP:0011935
2 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
3 severe combined immunodeficiency 58 31 frequent (33%) Frequent (79-30%) HP:0004430
4 autoimmune hemolytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001890
5 hypouricemia 58 31 very rare (1%) Frequent (79-30%) HP:0003537
6 humoral immunodeficiency 58 31 frequent (33%) Frequent (79-30%) HP:0005363
7 unusual gastrointestinal infection 58 31 frequent (33%) Frequent (79-30%) HP:0032166
8 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
9 ataxia 58 31 very rare (1%) Occasional (29-5%) HP:0001251
10 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
11 neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002664
12 lymphopenia 58 31 very rare (1%) Occasional (29-5%) HP:0001888
13 cerebral palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100021
14 spastic paraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002313
15 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
16 decreased proportion of cd3-positive t cells 58 31 occasional (7.5%) Occasional (29-5%) HP:0045080
17 hypotonia 31 occasional (7.5%) HP:0001252
18 sensorineural hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000407
19 stroke 58 31 very rare (1%) Very rare (<4-1%) HP:0001297
20 autoimmune thrombocytopenia 58 31 very rare (1%) Very rare (<4-1%) HP:0001973
21 systemic lupus erythematosus 58 31 very rare (1%) Very rare (<4-1%) HP:0002725
22 delayed gross motor development 31 very rare (1%) HP:0002194
23 pure red cell aplasia 31 very rare (1%) HP:0012410
24 decreased lymphocyte proliferation in response to mitogen 31 very rare (1%) HP:0031381
25 behavioral abnormality 58 31 Occasional (29-5%) HP:0000708
26 spasticity 58 Occasional (29-5%)
27 failure to thrive 31 HP:0001508
28 tremor 31 HP:0001337
29 muscular hypotonia 58 Occasional (29-5%)
30 splenomegaly 31 HP:0001744
31 hypertonia 58 Occasional (29-5%)
32 sinusitis 31 HP:0000246
33 recurrent upper respiratory tract infections 31 HP:0002788
34 autoimmunity 58 Frequent (79-30%)
35 motor delay 31 HP:0001270
36 lymphoma 31 HP:0002665
37 otitis media 31 HP:0000388
38 impaired t cell function 31 HP:0005435
39 recurrent urinary tract infections 31 HP:0000010
40 abnormality of the nervous system 58 Frequent (79-30%)
41 recurrent infections 58 Frequent (79-30%)
42 pneumonia 31 HP:0002090
43 spastic diplegia 31 HP:0001264
44 tetraparesis 31 HP:0002273
45 generalized hypotonia 31 HP:0001290
46 abnormal t cell morphology 58 Very frequent (99-80%)
47 recurrent bacterial infections 31 HP:0002718
48 recurrent viral infections 31 HP:0004429
49 neutropenia in presence of anti-neutropil antibodies 31 HP:0001904
50 abnormality of central motor function 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Abdomen Spleen:
splenomegaly

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:
ataxia
tremor
hypertonia
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 (Updated 05-Apr-2021)

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.76 ADA DCK DCLRE1C HPRT1 NHEJ1 PNP
2 hematopoietic system MP:0005397 9.7 ADA AHCY APRT DCK DCLRE1C HPRT1
3 immune system MP:0005387 9.32 ADA AHCY APRT DCK DCLRE1C HPRT1

Drugs & Therapeutics for Purine Nucleoside Phosphorylase Deficiency

Search Clinical Trials , 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 Marrow, Lymph Node, Thymus, B Lymphoblasts

Publications for Purine Nucleoside Phosphorylase Deficiency

Articles related to Purine Nucleoside Phosphorylase Deficiency:

(show top 50) (show all 143)
# Title Authors PMID Year
1
Mutations in purine nucleoside phosphorylase deficiency. 61 57 6
9067751 1997
2
Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. 6 57 61
1384322 1992
3
A human purine nucleoside phosphorylase deficiency caused by a single base change. 61 57 6
3029074 1987
4
Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient. 6 57
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. 6 57
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. 57 6
8931706 1996
7
Purine nucleoside phosphorylase deficiency: a mutation update. 6 61
22132981 2011
8
Purine nucleoside phosphorylase deficiency. 61 57
1931007 1991
9
A new case of purine nucleoside phosphorylase deficiency: enzymologic, clinical, and immunologic characteristics. 61 57
3103087 1987
10
Prenatal exclusion of purine nucleoside phosphorylase deficiency. 61 57
3089796 1986
11
Purine nucleoside phosphorylase deficiency associated with a fatal lymphoproliferative disorder. 57 61
6791594 1981
12
Purine nucleoside phosphorylase deficiency. Measurement of variant protein in four families with enzyme-deficient members by an enzyme-linked immunosorbent assay. 61 57
6778206 1980
13
Purine nucleoside phosphorylase deficiency: improved metabolic and immunologic function with erythrocyte transfusions. 57 61
6774252 1980
14
Purine nucleoside phosphorylase deficiency: biochemical properties and heterogeneity in two families. 61 57
36100 1979
15
Partial purine nucleoside phosphorylase deficiency. Studies of lymphocyte function. 61 57
96131 1978
16
Purine nucleoside phosphorylase deficiency: altered kinetic properties of a mutant enzyme. 61 57
407651 1977
17
Purine nucleoside phosphorylase deficiency. Evidence for molecular heterogeneity in two families with enzyme-deficient members. 61 57
408378 1977
18
Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency. 57 61
402573 1977
19
Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots. 6
24767876 2014
20
Point mutations at the purine nucleoside phosphorylase locus impair thymocyte differentiation in the mouse. 57
9122228 1997
21
Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency. 6
1560016 1992
22
[Sesquialter dosage effect of erythrocytic and leucocytic nucleoside phosphorylase in two patients with proximal trisomy 14q (author's transl)]. 57
6772087 1980
23
Isolation and characterization of purine-nucleoside phosphorylase-deficient T-lymphoma cells and secondary mutants with altered ribonucleotide reductase: genetic model for immunodeficiency disease. 57
108675 1979
24
Purinogenic immunodeficiency diseases: selective toxicity of deoxyribonucleosides for T cells. 57
311004 1978
25
Orotic aciduria in two unrelated patients with inherited deficiencies of purine nucleoside phosphorylase. 57
406278 1977
26
Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase. 57
825775 1976
27
Familial dysequilibrium-diplegia with T-lymphocyte deficiency. 57
1083213 1975
28
Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity. 57
48676 1975
29
Familial ataxic diplegia with deficient cellular immunity. A new clinical entity. 57
5455521 1970
30
Inborn errors of immunity associated with characteristic phenotypes. 61
33347837 2021
31
A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma. 61
32514656 2020
32
Partial Purine Nucleoside Phosphorylase Deficiency Helps Determine Minimal Activity Required for Immune and Neurological Development. 61
32695102 2020
33
Recurrent infections, neurologic signs, low serum uric acid levels, and lymphopenia in childhood: Purine nucleoside phosphorylase deficiency, an emergency for infants. 61
33061764 2020
34
The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature. 61
30885031 2019
35
Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid. 61
30926434 2019
36
An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome. 61
31118063 2019
37
Infusion of Sibling Marrow in a Patient with Purine Nucleoside Phosphorylase Deficiency Leads to Split Mixed Donor Chimerism and Normal Immunity. 61
28674683 2017
38
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
39
The First Report of a Pregnancy in a Patient with Purine Nucleoside Phosphorylase Deficiency. 61
26882246 2016
40
Urine Purine Metabolite Determination by UPLC-Tandem Mass Spectrometry. 61
26602134 2016
41
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
42
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
43
Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism. 61
24940674 2014
44
Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency. 61
23371835 2013
45
Primary immunodeficiency diseases associated with neurologic manifestations. 61
22038677 2012
46
Bilateral viral retinitis in a patient with immune deficiency because of purine nucleoside phosphorylase deficiency. 61
25390949 2012
47
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
48
Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India. 61
22669887 2011
49
Effects of purine nucleoside phosphorylase deficiency on thymocyte development. 61
21868080 2011
50
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

Variations for Purine Nucleoside Phosphorylase Deficiency

ClinVar genetic disease variations for Purine Nucleoside Phosphorylase Deficiency:

6 (show top 50) (show all 109)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PNP NM_000270.3(PNP):c.575A>G (p.Tyr192Cys) SNV Pathogenic 13993 rs104894452 GRCh37: 14:20943334-20943334
GRCh38: 14:20475175-20475175
2 PNP PNP, 1-BP DEL Deletion Pathogenic 13994 GRCh37:
GRCh38:
3 PNP NM_000270.3(PNP):c.70C>T (p.Arg24Ter) SNV Pathogenic 13995 rs104894455 GRCh37: 14:20940525-20940525
GRCh38: 14:20472366-20472366
4 PNP NM_000270.3(PNP):c.285+1G>A SNV Pathogenic 13997 rs1566525400 GRCh37: 14:20942735-20942735
GRCh38: 14:20474576-20474576
5 PNP NM_000270.3(PNP):c.172C>T (p.Arg58Ter) SNV Pathogenic 13996 rs104894460 GRCh37: 14:20940627-20940627
GRCh38: 14:20472468-20472468
6 PNP NM_000270.3(PNP):c.383A>G (p.Asp128Gly) SNV Pathogenic 13990 rs104894450 GRCh37: 14:20943029-20943029
GRCh38: 14:20474870-20474870
7 PNP NM_000270.3(PNP):c.520G>C (p.Ala174Pro) SNV Pathogenic 13989 rs104894454 GRCh37: 14:20943279-20943279
GRCh38: 14:20475120-20475120
8 PNP NM_000270.3(PNP):c.701G>C (p.Arg234Pro) SNV Pathogenic/Likely pathogenic 13991 rs104894451 GRCh37: 14:20944591-20944591
GRCh38: 14:20476432-20476432
9 PNP NM_000270.4(PNP):c.286-18G>A SNV Pathogenic/Likely pathogenic 505116 rs1026474882 GRCh37: 14:20942914-20942914
GRCh38: 14:20474755-20474755
10 PNP NM_000270.4(PNP):c.181G>T (p.Val61Leu) SNV Likely pathogenic 861659 GRCh37: 14:20940636-20940636
GRCh38: 14:20472477-20472477
11 PNP NM_000270.3(PNP):c.678C>T (p.Ile226=) SNV Conflicting interpretations of pathogenicity 312735 rs563086985 GRCh37: 14:20944568-20944568
GRCh38: 14:20476409-20476409
12 PNP NM_000270.3(PNP):c.*372G>C SNV Uncertain significance 312741 rs149943917 GRCh37: 14:20945132-20945132
GRCh38: 14:20476973-20476973
13 PNP NM_000270.3(PNP):c.549G>T (p.Glu183Asp) SNV Uncertain significance 312732 rs886050389 GRCh37: 14:20943308-20943308
GRCh38: 14:20475149-20475149
14 PNP NM_000270.3(PNP):c.11+5G>T SNV Uncertain significance 312727 rs886050386 GRCh37: 14:20937699-20937699
GRCh38: 14:20469540-20469540
15 PNP NM_000270.3(PNP):c.620G>A (p.Arg207His) SNV Uncertain significance 312733 rs201501535 GRCh37: 14:20943379-20943379
GRCh38: 14:20475220-20475220
16 PNP NM_000270.3(PNP):c.*483A>C SNV Uncertain significance 312742 rs186060210 GRCh37: 14:20945243-20945243
GRCh38: 14:20477084-20477084
17 PNP NM_000270.3(PNP):c.159C>A (p.Ile53=) SNV Uncertain significance 312729 rs367991537 GRCh37: 14:20940614-20940614
GRCh38: 14:20472455-20472455
18 PNP NM_000270.3(PNP):c.377T>C (p.Val126Ala) SNV Uncertain significance 312731 rs886050388 GRCh37: 14:20943023-20943023
GRCh38: 14:20474864-20474864
19 PNP NM_000270.3(PNP):c.*1222C>T SNV Uncertain significance 312753 rs886050393 GRCh37: 14:20945982-20945982
GRCh38: 14:20477823-20477823
20 PNP NM_000270.3(PNP):c.*274C>T SNV Uncertain significance 312739 rs555762832 GRCh37: 14:20945034-20945034
GRCh38: 14:20476875-20476875
21 PNP NM_000270.3(PNP):c.*506_*513del Deletion Uncertain significance 312743 rs566633953 GRCh37: 14:20945263-20945270
GRCh38: 14:20477104-20477111
22 PNP NM_000270.3(PNP):c.410A>G (p.Asn137Ser) SNV Uncertain significance 522741 rs766527065 GRCh37: 14:20943056-20943056
GRCh38: 14:20474897-20474897
23 PNP NM_000270.4(PNP):c.844A>G (p.Ile282Val) SNV Uncertain significance 840386 GRCh37: 14:20944734-20944734
GRCh38: 14:20476575-20476575
24 PNP NM_000270.4(PNP):c.569G>A (p.Gly190Asp) SNV Uncertain significance 853694 GRCh37: 14:20943328-20943328
GRCh38: 14:20475169-20475169
25 PNP NM_000270.4(PNP):c.476T>A (p.Phe159Tyr) SNV Uncertain significance 854693 GRCh37: 14:20943235-20943235
GRCh38: 14:20475076-20475076
26 PNP NM_000270.4(PNP):c.436C>A (p.Pro146Thr) SNV Uncertain significance 858334 GRCh37: 14:20943082-20943082
GRCh38: 14:20474923-20474923
27 PNP NM_000270.4(PNP):c.397C>T (p.Arg133Cys) SNV Uncertain significance 933923 GRCh37: 14:20943043-20943043
GRCh38: 14:20474884-20474884
28 PNP NM_000270.4(PNP):c.563A>G (p.Gln188Arg) SNV Uncertain significance 934293 GRCh37: 14:20943322-20943322
GRCh38: 14:20475163-20475163
29 PNP NM_000270.4(PNP):c.49C>T (p.Leu17Phe) SNV Uncertain significance 964110 GRCh37: 14:20940504-20940504
GRCh38: 14:20472345-20472345
30 PNP NM_000270.3(PNP):c.461G>A (p.Arg154Lys) SNV Uncertain significance 565932 rs1566525680 GRCh37: 14:20943107-20943107
GRCh38: 14:20474948-20474948
31 PNP NM_000270.3(PNP):c.16A>C (p.Thr6Pro) SNV Uncertain significance 572933 rs763321970 GRCh37: 14:20940471-20940471
GRCh38: 14:20472312-20472312
32 PNP NM_000270.3(PNP):c.554G>A (p.Arg185His) SNV Uncertain significance 577339 rs963944697 GRCh37: 14:20943313-20943313
GRCh38: 14:20475154-20475154
33 PNP NM_000270.3(PNP):c.815A>G (p.Glu272Gly) SNV Uncertain significance 579963 rs773751064 GRCh37: 14:20944705-20944705
GRCh38: 14:20476546-20476546
34 PNP NM_000270.3(PNP):c.404A>G (p.His135Arg) SNV Uncertain significance 581170 rs1566525632 GRCh37: 14:20943050-20943050
GRCh38: 14:20474891-20474891
35 PNP NC_000014.9:g.20469375G>A SNV Uncertain significance 881626 GRCh37: 14:20937534-20937534
GRCh38: 14:20469375-20469375
36 PNP NC_000014.9:g.20469396C>A SNV Uncertain significance 881627 GRCh37: 14:20937555-20937555
GRCh38: 14:20469396-20469396
37 PNP NC_000014.9:g.20477161G>A SNV Uncertain significance 881678 GRCh37: 14:20945320-20945320
GRCh38: 14:20477161-20477161
38 PNP NC_000014.9:g.20477351T>A SNV Uncertain significance 882829 GRCh37: 14:20945510-20945510
GRCh38: 14:20477351-20477351
39 PNP NC_000014.9:g.20477429T>C SNV Uncertain significance 882830 GRCh37: 14:20945588-20945588
GRCh38: 14:20477429-20477429
40 PNP NM_000270.3(PNP):c.653-9C>T SNV Uncertain significance 312734 rs886050390 GRCh37: 14:20944534-20944534
GRCh38: 14:20476375-20476375
41 PNP NM_000270.3(PNP):c.*1386C>T SNV Uncertain significance 312757 rs570239296 GRCh37: 14:20946146-20946146
GRCh38: 14:20477987-20477987
42 PNP NM_000270.4(PNP):c.686G>A (p.Arg229Gln) SNV Uncertain significance 881207 GRCh37: 14:20944576-20944576
GRCh38: 14:20476417-20476417
43 PNP NM_000270.4(PNP):c.718C>T (p.Leu240Phe) SNV Uncertain significance 881208 GRCh37: 14:20944608-20944608
GRCh38: 14:20476449-20476449
44 PNP NM_000270.4(PNP):c.*15G>A SNV Uncertain significance 881209 GRCh37: 14:20944775-20944775
GRCh38: 14:20476616-20476616
45 PNP NM_000270.4(PNP):c.*78T>C SNV Uncertain significance 881210 GRCh37: 14:20944838-20944838
GRCh38: 14:20476679-20476679
46 PNP NM_000270.4(PNP):c.*316C>T SNV Uncertain significance 881676 GRCh37: 14:20945076-20945076
GRCh38: 14:20476917-20476917
47 PNP NM_000270.4(PNP):c.*372G>A SNV Uncertain significance 881677 GRCh37: 14:20945132-20945132
GRCh38: 14:20476973-20476973
48 PNP NM_000270.3(PNP):c.78A>G (p.Gln26=) SNV Uncertain significance 644257 rs1317104356 GRCh37: 14:20940533-20940533
GRCh38: 14:20472374-20472374
49 PNP NM_000270.3(PNP):c.230C>G (p.Ala77Gly) SNV Uncertain significance 656565 rs749436187 GRCh37: 14:20942679-20942679
GRCh38: 14:20474520-20474520
50 PNP NM_000270.3(PNP):c.260T>A (p.Met87Lys) SNV Uncertain significance 659780 rs746316064 GRCh37: 14:20942709-20942709
GRCh38: 14:20474550-20474550

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

72
# 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
12.38 PNP HPRT1 DCK APRT AK2 ADSL
2
Show member pathways
11.77 PNP HPRT1 APRT AK2 ADA
3 11.03 PNP HPRT1 APRT AK2 ADSL ADA
4 10.93 ZAP70 RFXANK RAG1 DCLRE1C ADA
5 10.65 HPRT1 ADSL
6 10.17 PNP HPRT1

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 20)
# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.76 AHCY ADSL ADA
2 B cell differentiation GO:0030183 9.67 RAG1 NHEJ1 DCLRE1C
3 nucleobase-containing compound metabolic process GO:0006139 9.61 PNP DCK AK2
4 T cell differentiation GO:0030217 9.59 ZAP70 NHEJ1
5 purine nucleotide biosynthetic process GO:0006164 9.58 HPRT1 ADSL
6 positive regulation of calcium-mediated signaling GO:0050850 9.57 ZAP70 ADA
7 regulation of T cell differentiation GO:0045580 9.56 RAG1 ADA
8 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.55 ADSL ADA
9 purine nucleotide metabolic process GO:0006163 9.54 AK2 ADSL
10 grooming behavior GO:0007625 9.52 HPRT1 APRT
11 V(D)J recombination GO:0033151 9.51 RAG1 DCLRE1C
12 negative regulation of thymocyte apoptotic process GO:0070244 9.48 RAG1 ADA
13 purine ribonucleoside salvage GO:0006166 9.46 HPRT1 APRT
14 nucleoside metabolic process GO:0009116 9.43 PNP HPRT1 APRT
15 adenine metabolic process GO:0046083 9.4 HPRT1 APRT
16 hypoxanthine salvage GO:0043103 9.37 HPRT1 ADA
17 positive regulation of T cell differentiation GO:0045582 9.33 ZAP70 RAG1 ADA
18 adenine salvage GO:0006168 9.32 HPRT1 APRT
19 positive regulation of alpha-beta T cell differentiation GO:0046638 9.13 ZAP70 PNP ADA
20 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 transferase activity GO:0016740 9.17 ZAP70 RAG1 PNP HPRT1 DCK APRT
2 transferase activity, transferring glycosyl groups GO:0016757 9.13 PNP HPRT1 APRT

Sources for Purine Nucleoside Phosphorylase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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