MCID: IMM033
MIFTS: 24

Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency malady

Metabolic diseases, Blood diseases, Immune diseases categories

Summaries for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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46OMIM, 32MalaCards
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MalaCards: Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency, also known as purine nucleoside phosphorylase deficiency, is related to purine nucleoside phosphorylase deficiency and adenosine deaminase deficiency. An important gene associated with Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency is PNP (purine nucleoside phosphorylase). Affiliated tissues include t cells.

Description from OMIM:46 613179

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

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Sources:
48Orphanet, 60UMLS, 46OMIM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Blood diseases, Immune diseases


Characteristics (Orphanet epidemiological data):

48
purine nucleoside phosphorylase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

immunodeficiency due to purine nucleoside phosphorylase deficiency 46
purine nucleoside phosphorylase deficiency 48
purine-nucleoside phosphorylase deficiency 60
pnp deficiency 48


External Ids:

OMIM46 613179
ICD10 via Orphanet26 D81.5
SNOMED-CT via Orphanet57 60743005
UMLS via Orphanet61 C0268125

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

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17GeneCards, 18GeneDecks
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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 16)
idRelated DiseaseScoreTop Affiliating Genes
1purine nucleoside phosphorylase deficiency11.3
2adenosine deaminase deficiency10.8
3t cell deficiency10.7
4phosphorylase kinase deficiency10.6
5paraplegia10.5
6deficiency anemia10.4
7graft versus host disease10.4
8common variable immunodeficiency10.4
9progressive multifocal leukoencephalopathy10.4
10t lymphocyte deficiency10.4
11autoimmune hemolytic anemia10.4
12b cell deficiency10.4
13hemolytic anemia10.4
14lymphopenia10.4
15sclerosing cholangitis10.0
16cholangitis10.0

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



Diseases related to immunodeficiency due to purine nucleoside phosphorylase deficiency

Clinical Features for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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46OMIM
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Clinical features from OMIM:

613179

Clinical synopsis from OMIM:

613179

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

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency

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

Search CenterWatch 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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32MalaCards
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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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Genetic Variations for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency:

62
id Symbol AA change Variation ID SNP ID
1PNPp.Glu89LysVAR_002244
2PNPp.Asp128GlyVAR_002245
3PNPp.Ala174ProVAR_002246
4PNPp.Arg234ProVAR_002247
5PNPp.Tyr192CysVAR_010653

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

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet