MCID: IMM033
MIFTS: 25

Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency malady

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

Summaries for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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OMIM:46 Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly... (613179) more...

MalaCards based summary: Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency, also known as pnp deficiency, is related to purine nucleoside phosphorylase deficiency and adenosine deaminase deficiency, 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.

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

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Sources:
46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

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

Name: Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency 46
Pnp Deficiency 48 61
 
Purine Nucleoside Phosphorylase Deficiency 48
Purine-Nucleoside Phosphorylase Deficiency 61


Classifications:



Characteristics (Orphanet epidemiological data):

48
pnp deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


External Ids:

OMIM46 613179
ICD10 via Orphanet27 D81.5
UMLS via Orphanet62 C0268125

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

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Diseases related to Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1purine nucleoside phosphorylase deficiency11.4
2adenosine deaminase deficiency10.7
3paraplegia10.6
4spasticity10.6
5common variable immunodeficiency10.4
6graft versus host disease10.4
7hematopoietic stem cell transplantation10.4
8hemolytic anemia10.4
9progressive multifocal leukoencephalopathy10.4
10autoimmune hemolytic anemia10.4
11lymphopenia10.4
12retinitis10.4
13sclerosing cholangitis10.1
14cholangitis10.1

Graphical network of 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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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:

32
T cells

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:

63
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 Name 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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Expression patterns in normal tissues for genes affiliated with Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency

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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet