PNPD
MCID: IMM033
MIFTS: 42

Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency (PNPD) malady

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

Aliases & Classifications for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

Aliases & Descriptions for Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency:

Name: Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency 54 66 13
Purine Nucleoside Phosphorylase Deficiency 54 12 50 24 25 56 66 42 14
Pnp Deficiency 12 50 24 25 56
Purine-Nucleoside Phosphorylase Deficiency 12 29 69
Nucleoside Phosphorylase Deficiency 25 66
Deficiency of Inosine Phosphorylase 12
Purine Nucleoside Phosphorylase 13
Pnpase Deficiency 56
Pnpd 66

Characteristics:

Orphanet epidemiological data:

56
purine nucleoside phosphorylase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: early childhood,late childhood;

HPO:

32
immunodeficiency due to purine nucleoside phosphorylase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 613179
Disease Ontology 12 DOID:5813
ICD10 33 D81.5
NCIt 47 C3963
Orphanet 56 ORPHA760
UMLS via Orphanet 70 C0268125
ICD10 via Orphanet 34 D81.5
MedGen 40 C0268125
UMLS 69 C0268125

Summaries for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

NIH Rare Diseases : 50 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. last updated: 10/5/2016

MalaCards based summary : Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency, also known as purine nucleoside phosphorylase deficiency, is related to adenosine deaminase deficiency and leukemia, and has symptoms including ataxia, tremor and intellectual disability. An important gene associated with Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency is PNP (Purine Nucleoside Phosphorylase), and among its related pathways/superpathways are Metabolism and Purine metabolism (REACTOME). Affiliated tissues include t cells, b cells and bone.

UniProtKB/Swiss-Prot : 66 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.

OMIM : 54 Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly... (613179) more...

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.

Related Diseases for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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



Diseases related to Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency

Symptoms & Phenotypes for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

Symptoms by clinical synopsis from OMIM:

613179

Clinical features from OMIM:

613179

Human phenotypes related to Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency:

32 (show all 29)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 tremor 32 HP:0001337
3 intellectual disability 32 HP:0001249
4 muscular hypotonia 32 HP:0001252
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 otitis media 32 HP:0000388
12 lymphoma 32 HP:0002665
13 recurrent urinary tract infections 32 HP:0000010
14 motor delay 32 HP:0001270
15 recurrent lower respiratory tract infections 32 HP:0002783
16 recurrent bacterial infections 32 HP:0002718
17 recurrent viral infections 32 HP:0004429
18 pneumonia 32 HP:0002090
19 spastic diplegia 32 HP:0001264
20 tetraparesis 32 HP:0002273
21 autoimmune hemolytic anemia 32 HP:0001890
22 autoimmune thrombocytopenia 32 HP:0001973
23 autoimmune neutropenia 32 HP:0001904
24 cerebral vasculitis 32 HP:0005318
25 hypouricemia 32 HP:0003537
26 lymph node hypoplasia 32 HP:0002732
27 recurrent opportunistic infections 32 HP:0005390
28 abnormality of b cell physiology 32 HP:0005372
29 markedly reduced t cell function 32 HP:0005409

UMLS symptoms related to Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency:


ataxia, tremor, quadriparesis

Drugs & Therapeutics for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

Search Clinical Trials , NIH Clinical Center for Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency

Cochrane evidence based reviews: purine nucleoside phosphorylase deficiency

Genetic Tests for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

Genetic tests related to Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency:

id Genetic test Affiliating Genes
1 Purine-Nucleoside Phosphorylase Deficiency 29
2 Purine Nucleoside Phosphorylase Deficiency 24 PNP

Anatomical Context for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

MalaCards organs/tissues related to Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency:

39
T Cells, B Cells, Bone, Skin, Bone Marrow, Thyroid, Lymph Node

Publications for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

Variations for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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

66
id 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 Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PNP NM_000270.3(PNP): c.265G> A (p.Glu89Lys) single nucleotide variant Pathogenic rs104894453 GRCh37 Chromosome 14, 20942714: 20942714
2 PNP NM_000270.3(PNP): c.520G> C (p.Ala174Pro) single nucleotide variant Pathogenic rs104894454 GRCh37 Chromosome 14, 20943279: 20943279
3 PNP NM_000270.3(PNP): c.383A> G (p.Asp128Gly) single nucleotide variant Pathogenic rs104894450 GRCh37 Chromosome 14, 20943029: 20943029
4 PNP NM_000270.3(PNP): c.701G> C (p.Arg234Pro) single nucleotide variant Pathogenic/Likely pathogenic rs104894451 GRCh37 Chromosome 14, 20944591: 20944591
5 PNP NM_000270.3(PNP): c.575A> G (p.Tyr192Cys) single nucleotide variant Pathogenic rs104894452 GRCh37 Chromosome 14, 20943334: 20943334
6 PNP PNP, 1-BP DEL deletion Pathogenic
7 PNP NM_000270.3(PNP): c.70C> T (p.Arg24Ter) single nucleotide variant Pathogenic rs104894455 GRCh37 Chromosome 14, 20940525: 20940525
8 PNP NM_000270.3(PNP): c.172C> T (p.Arg58Ter) single nucleotide variant Pathogenic rs104894460 GRCh37 Chromosome 14, 20940627: 20940627
9 PNP PNP, IVS3DS, G-A, +1 single nucleotide variant Pathogenic

Expression for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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

Pathways for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.4 AHCY APRT HPRT1 PNP PRPS1
2
Show member pathways
11.78 APRT HPRT1 PNP
3
Show member pathways
11.5 APRT HPRT1 PNP PRPS1
4
Show member pathways
11.24 APRT HPRT1 PNP
5 10.75 HPRT1 PRPS1
6 10.43 HPRT1 PRPS1

GO Terms for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.35 AHCY APRT HPRT1 PNP PRPS1
2 secretory granule lumen GO:0034774 8.62 APRT PNP

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

id Name GO ID Score Top Affiliating Genes
1 purine nucleotide biosynthetic process GO:0006164 9.43 HPRT1 PRPS1
2 grooming behavior GO:0007625 9.4 APRT HPRT1
3 purine ribonucleoside salvage GO:0006166 9.37 APRT HPRT1
4 adenine metabolic process GO:0046083 9.32 APRT HPRT1
5 adenine salvage GO:0006168 9.26 APRT HPRT1
6 urate biosynthetic process GO:0034418 9.16 PNP PRPS1
7 purine-containing compound salvage GO:0043101 9.13 APRT HPRT1 PNP
8 nucleoside metabolic process GO:0009116 8.92 APRT HPRT1 PNP PRPS1

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

id Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.46 APRT HPRT1 PNP PRPS1
2 identical protein binding GO:0042802 9.43 AHCY HPRT1 PRPS1
3 magnesium ion binding GO:0000287 9.32 HPRT1 PRPS1
4 transferase activity, transferring glycosyl groups GO:0016757 9.13 APRT HPRT1 PNP
5 AMP binding GO:0016208 8.62 APRT PRPS1

Sources for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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65 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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