MCID: IMM033
MIFTS: 22

Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency malady

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

Summaries for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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48OMIM, 34MalaCards
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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:48 613179

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

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Sources:
48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
purine nucleoside phosphorylase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

immunodeficiency due to purine nucleoside phosphorylase deficiency 48
purine nucleoside phosphorylase deficiency 50
purine-nucleoside phosphorylase deficiency 63
pnp deficiency 50


External Ids:

OMIM48 613179
ICD10 via Orphanet27 D81.5
SNOMED-CT via Orphanet60 60743005
UMLS via Orphanet64 C0268125

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

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18GeneCards, 19GeneDecks
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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 13)
idRelated DiseaseScoreTop Affiliating Genes
1purine nucleoside phosphorylase deficiency11.4
2adenosine deaminase deficiency10.7
3paraplegia10.5
4spasticity10.5
5graft versus host disease10.4
6progressive multifocal leukoencephalopathy10.4
7autoimmune hemolytic anemia10.4
8common variable immunodeficiency10.4
9hemolytic anemia10.4
10lymphopenia10.4
11hematopoietic stem cell transplantation10.4
12sclerosing cholangitis10.1
13cholangitis10.1

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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48OMIM
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Symptoms by clinical synopsis from OMIM:

613179

Clinical features from OMIM:

613179

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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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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34MalaCards
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MalaCards organs/tissues related to Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency:

34
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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency:

65
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:

1
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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2BioGPS, 16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet