MCID: IMM033
MIFTS: 42

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 52 70 12
Purine Nucleoside Phosphorylase Deficiency 52 11 48 24 25 54 70 39 13
Pnp Deficiency 11 48 24 25 54
Purine-Nucleoside Phosphorylase Deficiency 11 27 68
Nucleoside Phosphorylase Deficiency 25 70
 
Deficiency of Inosine Phosphorylase 11
Purine Nucleoside Phosphorylase 12
Pnpase Deficiency 54
Pnpd 70

Characteristics:

Orphanet epidemiological data:

54
purine nucleoside phosphorylase deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: early childhood,late childhood

HPO:

64
immunodeficiency due to purine nucleoside phosphorylase deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 613179
Disease Ontology11 DOID:5813
ICD1030 D81.5
NCIt45 C3963
Orphanet54 ORPHA760
UMLS via Orphanet69 C0268125
ICD10 via Orphanet31 D81.5
MedGen37 C0268125

Summaries for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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NIH Rare Diseases:48 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 lymphoma, and has symptoms including recurrent urinary tract infections, sinusitis and otitis media. 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 that has material basis in mutation in the PNP gene and characterized mainly by decreased T-cell function.

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

UniProtKB/Swiss-Prot:70 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.

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

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Symptoms by clinical synopsis from OMIM:

613179

Clinical features from OMIM:

613179

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

 64 (show all 29)
id Description HPO Frequency HPO Source Accession
1 recurrent urinary tract infections64 HP:0000010
2 sinusitis64 HP:0000246
3 otitis media64 HP:0000388
4 behavioral abnormality64 HP:0000708
5 intellectual disability64 HP:0001249
6 ataxia64 HP:0001251
7 muscular hypotonia64 HP:0001252
8 spastic diplegia64 HP:0001264
9 motor delay64 HP:0001270
10 tremor64 HP:0001337
11 failure to thrive64 HP:0001508
12 splenomegaly64 HP:0001744
13 lymphopenia64 HP:0001888
14 autoimmune hemolytic anemia64 HP:0001890
15 autoimmune neutropenia64 HP:0001904
16 autoimmune thrombocytopenia64 HP:0001973
17 pneumonia64 HP:0002090
18 tetraparesis64 HP:0002273
19 lymphoma64 HP:0002665
20 recurrent bacterial infections64 HP:0002718
21 lymph node hypoplasia64 HP:0002732
22 recurrent lower respiratory tract infections64 HP:0002783
23 recurrent upper respiratory tract infections64 HP:0002788
24 hypouricemia64 HP:0003537
25 recurrent viral infections64 HP:0004429
26 cerebral vasculitis64 HP:0005318
27 abnormality of b cell physiology64 HP:0005372
28 recurrent opportunistic infections64 HP:0005390
29 markedly reduced t cell function64 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 Deficiency27
2 Purine Nucleoside Phosphorylase Deficiency24 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:

36
T cells, B cells, Skin, Thyroid, Bone marrow, Bone, Lymph node

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:

70
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)SNVPathogenicrs104894453GRCh37Chr 14, 20942714: 20942714
2PNPNM_000270.3(PNP): c.520G> C (p.Ala174Pro)SNVPathogenicrs104894454GRCh37Chr 14, 20943279: 20943279
3PNPNM_000270.3(PNP): c.383A> G (p.Asp128Gly)SNVPathogenicrs104894450GRCh37Chr 14, 20943029: 20943029
4PNPNM_000270.3(PNP): c.701G> C (p.Arg234Pro)SNVPathogenicrs104894451GRCh37Chr 14, 20944591: 20944591
5PNPNM_000270.3(PNP): c.575A> G (p.Tyr192Cys)SNVPathogenicrs104894452GRCh37Chr 14, 20943334: 20943334
6PNPPNP, 1-BP DELdeletionPathogenicChr na, -1: -1
7PNPNM_000270.3(PNP): c.70C> T (p.Arg24Ter)SNVPathogenicrs104894455GRCh37Chr 14, 20940525: 20940525
8PNPNM_000270.3(PNP): c.172C> T (p.Arg58Ter)SNVPathogenicrs104894460GRCh37Chr 14, 20940627: 20940627
9PNPPNP, IVS3DS, G-A, +1SNVPathogenicChr na, -1: -1

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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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:00700628.4AHCY, APRT, HPRT1, PNP
2cytosolGO:00058298.3AHCY, 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:00460839.8APRT, HPRT1
2adenine salvageGO:00061689.8APRT, HPRT1
3grooming behaviorGO:00076259.8APRT, HPRT1
4purine ribonucleoside salvageGO:00061669.7APRT, HPRT1
5purine nucleotide biosynthetic processGO:00061649.4HPRT1, PRPS1
6urate biosynthetic processGO:00344189.2PNP, 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:00162089.7APRT, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet