MCID: PRN001
MIFTS: 52

Purine Nucleoside Phosphorylase Deficiency

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

Aliases & Classifications for Purine Nucleoside Phosphorylase Deficiency

MalaCards integrated aliases for Purine Nucleoside Phosphorylase Deficiency:

Name: Purine Nucleoside Phosphorylase Deficiency 57 12 76 53 25 59 75 44 15
Purine-Nucleoside Phosphorylase Deficiency 12 29 6 40 73
Pnp Deficiency 12 53 25 59
Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency 57 75 13
Nucleoside Phosphorylase Deficiency 57 25 75
Deficiency of Inosine Phosphorylase 12
Purine Nucleoside Phosphorylase 13
Pnpase Deficiency 59
Pnpd 75

Characteristics:

Orphanet epidemiological data:

59
purine nucleoside phosphorylase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: early childhood,late childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
purine nucleoside phosphorylase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Purine Nucleoside Phosphorylase Deficiency

NIH Rare Diseases : 53 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.

MalaCards based summary : Purine Nucleoside Phosphorylase Deficiency, also known as purine-nucleoside phosphorylase deficiency, is related to adenosine deaminase deficiency and immune defect due to absence of thymus, 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 Purine metabolism (KEGG). The drugs Dexamethasone and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and bone, and related phenotypes are intellectual disability and ataxia

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)

UniProtKB/Swiss-Prot : 75 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.

Genetics Home Reference : 25 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.

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.

Wikipedia : 76 Purine nucleoside phosphorylase deficiency, often called PNP-deficiency, is a rare autosomal... more...

Related Diseases for Purine Nucleoside Phosphorylase Deficiency

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
tremor
hypertonia
spastic diplegia
tetraparesis
more
AbdomenSpleen:
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
Neoplasia:
lymphoma
lymphosarcoma

Hematology:
autoimmune hemolytic anemia
autoimmune neutropenia
idiopathic thrombocytopenia

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
Growth Other:
failure to thrive

Head And Neck Head:
sinusitis

Head And Neck Ears:
otitis media

Respiratory Lung:
pneumonia

Cardiovascular Vascular:
cerebral vasculitis

Genitourinary Kidneys:
urinary tract infections

Respiratory Nasopharynx:
atrophic tonsils


Clinical features from OMIM:

613179

Human phenotypes related to Purine Nucleoside Phosphorylase Deficiency:

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 ataxia 32 HP:0001251
3 muscular hypotonia 32 HP:0001252
4 tremor 32 HP:0001337
5 failure to thrive 32 HP:0001508
6 behavioral abnormality 32 HP:0000708
7 splenomegaly 32 HP:0001744
8 sinusitis 32 HP:0000246
9 recurrent upper respiratory tract infections 32 HP:0002788
10 lymphopenia 32 HP:0001888
11 impaired t cell function 32 HP:0005435
12 otitis media 32 HP:0000388
13 lymphoma 32 HP:0002665
14 recurrent urinary tract infections 32 HP:0000010
15 motor delay 32 HP:0001270
16 recurrent lower respiratory tract infections 32 HP:0002783
17 recurrent bacterial infections 32 HP:0002718
18 recurrent viral infections 32 HP:0004429
19 pneumonia 32 HP:0002090
20 spastic diplegia 32 HP:0001264
21 tetraparesis 32 HP:0002273
22 generalized hypotonia 32 HP:0001290
23 autoimmune hemolytic anemia 32 HP:0001890
24 autoimmune thrombocytopenia 32 HP:0001973
25 autoimmune neutropenia 32 HP:0001904
26 recurrent opportunistic infections 32 HP:0005390
27 cerebral vasculitis 32 HP:0005318
28 hypouricemia 32 HP:0003537
29 lymph node hypoplasia 32 HP:0002732
30 abnormality of b cell physiology 32 HP:0005372

UMLS symptoms related to Purine Nucleoside Phosphorylase Deficiency:


ataxia, tremor, quadriparesis

Drugs & Therapeutics for Purine Nucleoside Phosphorylase Deficiency

Drugs for Purine Nucleoside Phosphorylase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 1 50-02-2 5743
2
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
3
Mycophenolate mofetil Approved, Investigational Phase 1 128794-94-5 5281078
4
Mycophenolic acid Approved Phase 1 24280-93-1 446541
5 Antiemetics Phase 1
6 Anti-Inflammatory Agents Phase 1
7 Antineoplastic Agents, Hormonal Phase 1
8 Autonomic Agents Phase 1
9 BB 1101 Phase 1
10 Dexamethasone acetate Phase 1 1177-87-3
11 Gastrointestinal Agents Phase 1
12 glucocorticoids Phase 1
13 HIV Protease Inhibitors Phase 1
14 Hormone Antagonists Phase 1
15 Hormones Phase 1
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
17 Peripheral Nervous System Agents Phase 1
18
protease inhibitors Phase 1
19 Anti-Bacterial Agents Phase 1
20 Antibiotics, Antitubercular Phase 1
21 Antifungal Agents Phase 1
22 Anti-Infective Agents Phase 1
23 Antirheumatic Agents Phase 1
24 Antitubercular Agents Phase 1
25 Calcineurin Inhibitors Phase 1
26 Cyclosporins Phase 1
27 Dermatologic Agents Phase 1
28 Immunosuppressive Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diagnosing Natriuretic Peptide Deficiency Completed NCT03035929 Phase 1 Dexamethasone
2 Total-Body Irradiation Followed By Cyclosporine and Mycophenolate Mofetil in Treating Patients With Severe Combined Immunodeficiency Undergoing Donor Bone Marrow Transplant Active, not recruiting NCT00008450 Phase 1 Cyclosporine;Mycophenolate Mofetil
3 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200

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:

41
T Cells, B Cells, Bone, Bone Marrow, Skin, Thyroid, Lymph Node

Publications for Purine Nucleoside Phosphorylase Deficiency

Articles related to Purine Nucleoside Phosphorylase Deficiency:

(show top 50) (show all 90)
# Title Authors Year
1
Infusion of Sibling Marrow in a Patient with Purine Nucleoside Phosphorylase Deficiency Leads to Split Mixed Donor Chimerism and Normal Immunity. ( 28674683 )
2017
2
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. ( 26466166 )
2016
3
The First Report of a Pregnancy in a Patient with Purine Nucleoside Phosphorylase Deficiency. ( 26882246 )
2016
4
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. ( 25967230 )
2015
5
A successful unrelated peripheral blood stem cell transplantation with reduced intensity-conditioning regimen in a patient with late-onset purine nucleoside phosphorylase deficiency. ( 25514831 )
2015
6
Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency. ( 23371835 )
2013
7
Bilateral viral retinitis in a patient with immune deficiency because of purine nucleoside phosphorylase deficiency. ( 25390949 )
2012
8
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
9
Purine nucleoside phosphorylase deficiency: a mutation update. ( 22132981 )
2011
10
Effects of purine nucleoside phosphorylase deficiency on thymocyte development. ( 21868080 )
2011
11
Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India. ( 22669887 )
2011
12
Purine nucleoside phosphorylase deficiency with fatal course in two sisters. ( 19657670 )
2010
13
Identification of purine nucleoside phosphorylase deficiency in dried blood spots by a non-radiochemical assay using reversed-phase high-performance liquid chromatography. ( 20544539 )
2010
14
Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients. ( 19584574 )
2009
15
Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency. ( 18067860 )
2008
16
Lentivirus gene therapy for purine nucleoside phosphorylase deficiency. ( 18924118 )
2008
17
An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication. ( 18208442 )
2008
18
Progressive multifocal leukoencephalopathy in purine nucleoside phosphorylase deficiency. ( 16949240 )
2007
19
Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency. ( 17910661 )
2007
20
Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections. ( 17641261 )
2007
21
Purine nucleoside phosphorylase deficiency associated with a dysplastic marrow morphology. ( 14711904 )
2004
22
Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency. ( 15571269 )
2004
23
Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation. ( 15520787 )
2004
24
Familial spastic paraplegia as the presenting manifestation in patients with purine nucleoside phosphorylase deficiency. ( 12693783 )
2003
25
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
26
Novel missense mutation in the purine nucleoside phosphorylase gene in a Japanese patient with purine nucleoside phosphorylase deficiency. ( 11982911 )
2002
27
Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency. ( 11902746 )
2002
28
High IL-18 (interferon-gamma inducing factor) concentration in a purine nucleoside phosphorylase deficient patient. ( 10490534 )
1999
29
Adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency in common variable immunodeficiency. ( 9605997 )
1998
30
Mutations in purine nucleoside phosphorylase deficiency. ( 9067751 )
1997
31
Correction of purine nucleoside phosphorylase deficiency by transplantation of allogeneic bone marrow from a sibling. ( 8774508 )
1996
32
Late diagnosis and correction of purine nucleoside phosphorylase deficiency with allogeneic bone marrow transplantation. ( 8673045 )
1996
33
Liquid-chromatographic study of purine metabolism abnormalities in purine nucleoside phosphorylase deficiency. ( 8595732 )
1996
34
Marked hypouricemia in purine nucleoside phosphorylase deficiency--serendipitous finding on screen. ( 8665699 )
1996
35
Stroke in purine nucleoside phosphorylase deficiency. ( 7779212 )
1995
36
Secondary loss of deoxyguanosine kinase activity in purine nucleoside phosphorylase deficient mice. ( 7918681 )
1994
37
Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. ( 1384322 )
1992
38
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
39
[Hypouricemia and cellular immunodeficiency associated with purine-nucleoside phosphorylase deficiency]. ( 1929018 )
1991
40
Purine nucleoside phosphorylase deficiency. ( 1931007 )
1991
41
Genetic models of purine nucleoside phosphorylase deficiency in the mouse. ( 1781357 )
1991
42
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
43
Mechanisms of deoxyguanosine lymphotoxicity. Human thymocytes, but not peripheral blood lymphocytes accumulate deoxy-GTP in conditions simulating purine nucleoside phosphorylase deficiency. ( 2104895 )
1990
44
Clinico-biochemical and molecular studies of purine nucleoside phosphorylase deficiency. ( 2516410 )
1989
45
Fatal graft versus host disease after platelet transfusions in a child with purine nucleoside phosphorylase deficiency. ( 2495962 )
1989
46
Prenatal diagnosis of purine nucleoside phosphorylase deficiency in the first and second trimesters of pregnancy. ( 2503819 )
1989
47
A human purine nucleoside phosphorylase deficiency caused by a single base change. ( 3029074 )
1987
48
Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency. ( 2439024 )
1987
49
High risk screening of adenosine deaminase and purine nucleoside phosphorylase deficiency in Japan. ( 3144840 )
1987
50
A new case of purine nucleoside phosphorylase deficiency: enzymologic, clinical, and immunologic characteristics. ( 3103087 )
1987

Variations for Purine Nucleoside Phosphorylase Deficiency

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

75
# 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

ClinVar genetic disease variations for Purine Nucleoside Phosphorylase Deficiency:

6
(show top 50) (show all 108)
# Gene Variation Type Significance SNP ID Assembly Location
1 PNP NM_000270.3(PNP): c.383A> G (p.Asp128Gly) single nucleotide variant Pathogenic rs104894450 GRCh37 Chromosome 14, 20943029: 20943029
2 PNP NM_000270.3(PNP): c.383A> G (p.Asp128Gly) single nucleotide variant Pathogenic rs104894450 GRCh38 Chromosome 14, 20474870: 20474870
3 PNP NM_000270.3(PNP): c.701G> C (p.Arg234Pro) single nucleotide variant Likely pathogenic rs104894451 GRCh37 Chromosome 14, 20944591: 20944591
4 PNP NM_000270.3(PNP): c.701G> C (p.Arg234Pro) single nucleotide variant Likely pathogenic rs104894451 GRCh38 Chromosome 14, 20476432: 20476432
5 PNP NM_000270.3(PNP): c.265G> A (p.Glu89Lys) single nucleotide variant Pathogenic rs104894453 GRCh37 Chromosome 14, 20942714: 20942714
6 PNP NM_000270.3(PNP): c.265G> A (p.Glu89Lys) single nucleotide variant Pathogenic rs104894453 GRCh38 Chromosome 14, 20474555: 20474555
7 PNP NM_000270.3(PNP): c.520G> C (p.Ala174Pro) single nucleotide variant Pathogenic rs104894454 GRCh37 Chromosome 14, 20943279: 20943279
8 PNP NM_000270.3(PNP): c.520G> C (p.Ala174Pro) single nucleotide variant Pathogenic rs104894454 GRCh38 Chromosome 14, 20475120: 20475120
9 PNP NM_000270.3(PNP): c.575A> G (p.Tyr192Cys) single nucleotide variant Pathogenic rs104894452 GRCh37 Chromosome 14, 20943334: 20943334
10 PNP NM_000270.3(PNP): c.575A> G (p.Tyr192Cys) single nucleotide variant Pathogenic rs104894452 GRCh38 Chromosome 14, 20475175: 20475175
11 PNP PNP, 1-BP DEL deletion Pathogenic
12 PNP NM_000270.3(PNP): c.70C> T (p.Arg24Ter) single nucleotide variant Pathogenic rs104894455 GRCh37 Chromosome 14, 20940525: 20940525
13 PNP NM_000270.3(PNP): c.70C> T (p.Arg24Ter) single nucleotide variant Pathogenic rs104894455 GRCh38 Chromosome 14, 20472366: 20472366
14 PNP NM_000270.3(PNP): c.172C> T (p.Arg58Ter) single nucleotide variant Pathogenic rs104894460 GRCh37 Chromosome 14, 20940627: 20940627
15 PNP NM_000270.3(PNP): c.172C> T (p.Arg58Ter) single nucleotide variant Pathogenic rs104894460 GRCh38 Chromosome 14, 20472468: 20472468
16 PNP PNP, IVS3DS, G-A, +1 single nucleotide variant Pathogenic
17 PNP NM_000270.3(PNP): c.285+10A> G single nucleotide variant Benign rs1713420 GRCh38 Chromosome 14, 20474585: 20474585
18 PNP NM_000270.3(PNP): c.285+10A> G single nucleotide variant Benign rs1713420 GRCh37 Chromosome 14, 20942744: 20942744
19 PNP NM_000270.3(PNP): c.678C> T (p.Ile226=) single nucleotide variant Uncertain significance rs563086985 GRCh37 Chromosome 14, 20944568: 20944568
20 PNP NM_000270.3(PNP): c.678C> T (p.Ile226=) single nucleotide variant Uncertain significance rs563086985 GRCh38 Chromosome 14, 20476409: 20476409
21 PNP NM_000270.3(PNP): c.*254C> T single nucleotide variant Likely benign rs7785 GRCh38 Chromosome 14, 20476855: 20476855
22 PNP NM_000270.3(PNP): c.*254C> T single nucleotide variant Likely benign rs7785 GRCh37 Chromosome 14, 20945014: 20945014
23 PNP NM_000270.3(PNP): c.*317G> A single nucleotide variant Uncertain significance rs747293719 GRCh38 Chromosome 14, 20476918: 20476918
24 PNP NM_000270.3(PNP): c.*317G> A single nucleotide variant Uncertain significance rs747293719 GRCh37 Chromosome 14, 20945077: 20945077
25 PNP NM_000270.3(PNP): c.*799A> G single nucleotide variant Uncertain significance rs61013934 GRCh38 Chromosome 14, 20477400: 20477400
26 PNP NM_000270.3(PNP): c.*799A> G single nucleotide variant Uncertain significance rs61013934 GRCh37 Chromosome 14, 20945559: 20945559
27 PNP NM_000270.3(PNP): c.*811G> A single nucleotide variant Likely benign rs17883795 GRCh38 Chromosome 14, 20477412: 20477412
28 PNP NM_000270.3(PNP): c.*811G> A single nucleotide variant Likely benign rs17883795 GRCh37 Chromosome 14, 20945571: 20945571
29 PNP NM_000270.3(PNP): c.*1342A> T single nucleotide variant Likely benign rs60605707 GRCh38 Chromosome 14, 20477943: 20477943
30 PNP NM_000270.3(PNP): c.*1342A> T single nucleotide variant Likely benign rs60605707 GRCh37 Chromosome 14, 20946102: 20946102
31 PNP NM_000270.3(PNP): c.-96G> A single nucleotide variant Uncertain significance rs17881206 GRCh38 Chromosome 14, 20469429: 20469429
32 PNP NM_000270.3(PNP): c.-96G> A single nucleotide variant Uncertain significance rs17881206 GRCh37 Chromosome 14, 20937588: 20937588
33 PNP NM_000270.3(PNP): c.-91G> T single nucleotide variant Uncertain significance rs115464597 GRCh38 Chromosome 14, 20469434: 20469434
34 PNP NM_000270.3(PNP): c.-91G> T single nucleotide variant Uncertain significance rs115464597 GRCh37 Chromosome 14, 20937593: 20937593
35 PNP NM_000270.3(PNP): c.66G> C (p.Lys22Asn) single nucleotide variant Uncertain significance rs886050387 GRCh38 Chromosome 14, 20472362: 20472362
36 PNP NM_000270.3(PNP): c.66G> C (p.Lys22Asn) single nucleotide variant Uncertain significance rs886050387 GRCh37 Chromosome 14, 20940521: 20940521
37 PNP NM_000270.3(PNP): c.377T> C (p.Val126Ala) single nucleotide variant Uncertain significance rs886050388 GRCh38 Chromosome 14, 20474864: 20474864
38 PNP NM_000270.3(PNP): c.377T> C (p.Val126Ala) single nucleotide variant Uncertain significance rs886050388 GRCh37 Chromosome 14, 20943023: 20943023
39 PNP NM_000270.3(PNP): c.549G> T (p.Glu183Asp) single nucleotide variant Uncertain significance rs886050389 GRCh38 Chromosome 14, 20475149: 20475149
40 PNP NM_000270.3(PNP): c.549G> T (p.Glu183Asp) single nucleotide variant Uncertain significance rs886050389 GRCh37 Chromosome 14, 20943308: 20943308
41 PNP NM_000270.3(PNP): c.653-9C> T single nucleotide variant Uncertain significance rs886050390 GRCh38 Chromosome 14, 20476375: 20476375
42 PNP NM_000270.3(PNP): c.653-9C> T single nucleotide variant Uncertain significance rs886050390 GRCh37 Chromosome 14, 20944534: 20944534
43 PNP NM_000270.3(PNP): c.*372G> C single nucleotide variant Uncertain significance rs149943917 GRCh38 Chromosome 14, 20476973: 20476973
44 PNP NM_000270.3(PNP): c.*372G> C single nucleotide variant Uncertain significance rs149943917 GRCh37 Chromosome 14, 20945132: 20945132
45 PNP NM_000270.3(PNP): c.*728T> C single nucleotide variant Benign rs1760933 GRCh38 Chromosome 14, 20477329: 20477329
46 PNP NM_000270.3(PNP): c.*728T> C single nucleotide variant Benign rs1760933 GRCh37 Chromosome 14, 20945488: 20945488
47 PNP NM_000270.3(PNP): c.*816C> T single nucleotide variant Likely benign rs79538439 GRCh38 Chromosome 14, 20477417: 20477417
48 PNP NM_000270.3(PNP): c.*816C> T single nucleotide variant Likely benign rs79538439 GRCh37 Chromosome 14, 20945576: 20945576
49 PNP NM_000270.3(PNP): c.*1105dupG duplication Likely benign rs397807669 GRCh38 Chromosome 14, 20477706: 20477706
50 PNP NM_000270.3(PNP): c.*1105dupG duplication Likely benign rs397807669 GRCh37 Chromosome 14, 20945865: 20945865

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
13.29 ADA AHCY DCK HPRT1 PNP
2
Show member pathways
11.82 ADA DCK HPRT1 PNP
4
Show member pathways
11.47 ADA AHCY
5
Show member pathways
11.44 ADA HPRT1 PNP
6
Show member pathways
11.27 ADA DCK HPRT1 PNP

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 cytosol GO:0005829 9.02 ADA AHCY DCK HPRT1 PNP

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

# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.37 ADA AHCY
2 nucleobase-containing compound metabolic process GO:0006139 9.32 DCK PNP
3 nucleoside metabolic process GO:0009116 9.26 HPRT1 PNP
4 positive regulation of alpha-beta T cell differentiation GO:0046638 9.16 ADA PNP
5 hypoxanthine salvage GO:0043103 8.96 ADA HPRT1
6 purine-containing compound salvage GO:0043101 8.92 ADA DCK HPRT1 PNP

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 8.96 HPRT1 PNP
2 drug binding GO:0008144 8.62 DCK PNP

Sources for Purine Nucleoside Phosphorylase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
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54 NINDS
55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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