MCID: IMM033
MIFTS: 43

Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency malady

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

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

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

Name: Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency 50 68 12
Purine Nucleoside Phosphorylase Deficiency 50 11 46 23 24 13 52 68 37
Pnp Deficiency 11 46 23 24 52
Purine-Nucleoside Phosphorylase Deficiency 11 25 66
Nucleoside Phosphorylase Deficiency 24 68
 
Deficiency of Inosine Phosphorylase 11
Purine Nucleoside Phosphorylase 12
Pnpase Deficiency 52
Pnpd 68

Characteristics:

Orphanet epidemiological data:

52
purine nucleoside phosphorylase deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: early childhood,late childhood

HPO:

62
immunodeficiency due to purine nucleoside phosphorylase deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 613179
Disease Ontology11 DOID:5813
ICD1028 D81.5
NCIt43 C3963
Orphanet52 ORPHA760
ICD10 via Orphanet29 D81.5
UMLS via Orphanet67 C0268125
MedGen35 C0268125

Summaries for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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NIH Rare Diseases:46 Purine nucleoside phosphorylase (pnp) deficiency is a primary immunodeficiency syndrome characterized by recurrent infections, neurologic symptoms, and autoimmune disorders. pnp deficiency causes a shortage of white blood cells called t cells that help fight infection. some people with this condition develop neurologic symptoms, such as spasticity, ataxia, developmental delay, or intellectual disability. in addition, pnp deficiency is associated with increased risk of autoimmune disorders, such as autoimmune hemolytic anemia, idiopathic thrombocytopenia (itp), autoimmune neutropenia, thyroiditis, and lupus. pnp deficiency is a autosomal recessive disorder caused by mutations in the pnp gene. treatment with bone marrow transplantation can improve the immune system problems associated with this condition, but does not improve the neurologic symptoms. last updated: 6/29/2009

MalaCards based summary: Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency, also known as purine nucleoside phosphorylase deficiency, is related to leukemia and adenosine deaminase deficiency, and has symptoms including ataxia, ataxia and tremor. An important gene associated with Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency is PNP (Purine Nucleoside Phosphorylase), and among its related pathways are Nucleotide Metabolism and purine nucleotides de novo biosynthesis. Affiliated tissues include t cells, b cells and skin.

Disease Ontology:11 A combined t cell and b cell immunodeficiency that is a rare autosomal recessive metabolic disorder caused by a mutaion in the pnp gene and characterized mainly by decreased t-cell function.

UniProtKB/Swiss-Prot:68 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:24 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:50 Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly... (613179) more...

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

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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 for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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Symptoms by clinical synopsis from OMIM:

613179

Clinical features from OMIM:

613179

HPO human phenotypes related to Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency:

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

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Interventional clinical trials:

Search ClinicalTrials, 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...

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

id Genetic test Affiliating Genes
1 Purine-Nucleoside Phosphorylase Deficiency25
2 Purine Nucleoside Phosphorylase Deficiency23 PNP

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

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

34
T cells, B cells, Skin, Thyroid, Bone marrow, Bone, Lymph node

Animal Models for Immunodeficiency Due to Purine Nucleoside Phosphorylase... or affiliated genes

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Publications for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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Variations for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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

68
id Symbol AA change Variation ID SNP ID
1PNPp.Glu89LysVAR_002244rs104894453
2PNPp.Asp128GlyVAR_002245rs104894450
3PNPp.Ala174ProVAR_002246rs104894454
4PNPp.Arg234ProVAR_002247rs104894451
5PNPp.Tyr192CysVAR_010653rs104894452

Clinvar genetic disease variations for Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PNPNM_000270.3(PNP): c.265G> A (p.Glu89Lys)single nucleotide variantPathogenicrs104894453GRCh37Chr 14, 20942714: 20942714
2PNPNM_000270.3(PNP): c.520G> C (p.Ala174Pro)single nucleotide variantPathogenicrs104894454GRCh37Chr 14, 20943279: 20943279
3PNPNM_000270.3(PNP): c.383A> G (p.Asp128Gly)single nucleotide variantPathogenicrs104894450GRCh37Chr 14, 20943029: 20943029
4PNPNM_000270.3(PNP): c.701G> C (p.Arg234Pro)single nucleotide variantPathogenicrs104894451GRCh37Chr 14, 20944591: 20944591
5PNPNM_000270.3(PNP): c.575A> G (p.Tyr192Cys)single nucleotide variantPathogenicrs104894452GRCh37Chr 14, 20943334: 20943334
6PNPPNP, 1-BP DELdeletionPathogenic
7PNPNM_000270.3(PNP): c.70C> T (p.Arg24Ter)single nucleotide variantPathogenicrs104894455GRCh37Chr 14, 20940525: 20940525
8PNPNM_000270.3(PNP): c.172C> T (p.Arg58Ter)single nucleotide variantPathogenicrs104894460GRCh37Chr 14, 20940627: 20940627
9PNPPNP, IVS3DS, G-A, +1single nucleotide variantPathogenic

Expression for genes affiliated with Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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

Pathways for genes affiliated with Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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

idSuper pathwaysScoreTop Affiliating Genes
19.0HPRT1, PRPS1
2
Show member pathways
8.9APRT, HPRT1, PNP
3
Show member pathways
8.9APRT, HPRT1, PNP
4
Show member pathways
8.5AHCY, HPRT1, PRPS1
5
Show member pathways
8.1APRT, HPRT1, PNP, PRPS1
6
Show member pathways
7.5AHCY, APRT, HPRT1, PNP, PRPS1

GO Terms for genes affiliated with Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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

idNameGO IDScoreTop Affiliating Genes
1extracellular exosomeGO:00700628.1AHCY, APRT, HPRT1, PNP
2cytosolGO:00058297.5AHCY, APRT, HPRT1, PNP, PRPS1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1adenine metabolic processGO:00460839.6APRT, HPRT1
2adenine salvageGO:00061689.6APRT, HPRT1
3urate biosynthetic processGO:00344189.6PNP, PRPS1
4purine ribonucleoside salvageGO:00061669.6APRT, HPRT1
5grooming behaviorGO:00076259.3APRT, HPRT1
6purine nucleotide biosynthetic processGO:00061649.3HPRT1, PRPS1
7purine-containing compound salvageGO:00431018.8APRT, HPRT1, PNP

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

idNameGO IDScoreTop Affiliating Genes
1AMP bindingGO:00162089.0APRT, PRPS1
2magnesium ion bindingGO:00002879.0HPRT1, PRPS1

Sources for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet