MCID: IMM033
MIFTS: 40

Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency malady

Genetic diseases, Rare diseases, Immune diseases, Metabolic diseases, Blood diseases categories

Summaries for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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NIH Rare Diseases:43 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 adenosine deaminase deficiency and leukemia, and has symptoms including autosomal recessive inheritance, recurrent urinary tract infections and sinusitis. An important gene associated with Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency is PNP (purine nucleoside phosphorylase). Affiliated tissues include t cells, b cells and bone marrow.

Disease Ontology:10 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.

Genetics Home Reference:23 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:47 Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly... (613179) more...

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

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Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 49Orphanet, 24GTR, 62UMLS, 40NCIt, 57SNOMED-CT, 28ICD10 via Orphanet, 63UMLS via Orphanet, 27ICD10
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Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency, Aliases & Descriptions:

Name: Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency 47 11
Purine Nucleoside Phosphorylase Deficiency 47 10 43 23 12 49
Pnp Deficiency 10 43 23 49 62
Purine Nucleoside Phosphorylase 11 22 24
 
Purine-Nucleoside Phosphorylase Deficiency 10 62
Deficiency of Inosine Phosphorylase 10
Nucleoside Phosphorylase Deficiency 23


Classifications:



Characteristics (Orphanet epidemiological data):

49
purine nucleoside phosphorylase deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy


External Ids:

OMIM47 613179
Disease Ontology10 DOID:5813
NCIt40 C3963
Orphanet49 760
ICD10 via Orphanet28 D81.5
UMLS via Orphanet63 C0268125
ICD1027 D81.5

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 30)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 recurrent urinary tract infections HP:0000010
3 sinusitis HP:0000246
4 otitis media HP:0000388
5 behavioral abnormality HP:0000708
6 intellectual disability HP:0001249
7 ataxia HP:0001251
8 muscular hypotonia HP:0001252
9 spastic diplegia HP:0001264
10 motor delay HP:0001270
11 tremor HP:0001337
12 failure to thrive HP:0001508
13 splenomegaly HP:0001744
14 lymphopenia HP:0001888
15 autoimmune hemolytic anemia HP:0001890
16 autoimmune neutropenia HP:0001904
17 autoimmune thrombocytopenia HP:0001973
18 pneumonia HP:0002090
19 tetraparesis HP:0002273
20 lymphoma HP:0002665
21 recurrent bacterial infections HP:0002718
22 lymph node hypoplasia HP:0002732
23 recurrent lower respiratory tract infections HP:0002783
24 recurrent upper respiratory tract infections HP:0002788
25 hypouricemia HP:0003537
26 recurrent viral infections HP:0004429
27 cerebral vasculitis HP:0005318
28 abnormality of b cell physiology HP:0005372
29 recurrent opportunistic infections HP:0005390
30 markedly reduced t cell function HP:0005409

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

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Drug clinical trials:

Search ClinicalTrials for Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency

Search NIH Clinical Center for Immunodeficiency Due to 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 Deficiency22 PNP
2 Purine-Nucleoside Phosphorylase Deficiency24

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:

33
T cells, B cells, Bone marrow, Bone, Thyroid, Skin, 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:

64
id Symbol AA change Variation ID SNP ID
1PNPp.Glu89LysVAR_002244
2PNPp.Asp128GlyVAR_002245
3PNPp.Ala174ProVAR_002246
4PNPp.Arg234ProVAR_002247
5PNPp.Tyr192CysVAR_010653

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

7
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
6PNPNP, 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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Compounds 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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Products for genes affiliated with Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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Sources for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet