MCID: IMM033
MIFTS: 16

Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency malady

Metabolic, Blood, Immune categories

Summaries for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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:47 613179

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

Sources:
49Orphanet, 61UMLS, 47OMIM, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
purine nucleoside phosphorylase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

immunodeficiency due to purine nucleoside phosphorylase deficiency 47
purine nucleoside phosphorylase deficiency 49
purine-nucleoside phosphorylase deficiency 61
pnp deficiency 49


External Ids:

OMIM47 613179
ICD10 via Orphanet26 D81.5
SNOMED-CT via Orphanet58 60743005
UMLS via Orphanet62 C0268125

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

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1purine nucleoside phosphorylase deficiency11.4
2adenosine deaminase deficiency10.9
3t cell deficiency10.7
4t lymphocyte deficiency10.5
5phosphorylase kinase deficiency10.5
6deficiency anemia10.4
7graft versus host disease10.4
8common variable immunodeficiency10.4
9progressive multifocal leukoencephalopathy10.4
10autoimmune hemolytic anemia10.4
11b cell deficiency10.4
12specific antibody deficiency10.4
13hematopoietic stem cell transplantation10.4
14sclerosing cholangitis10.1
15protein c deficiency10.1

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...

Sources:
47OMIM
See all sources

Clinical features from OMIM:

613179

Clinical synopsis from OMIM:

613179

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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...

Anatomical Context for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

Sources:
33MalaCards
See all sources

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

33
T cells

Animal Models for Immunodeficiency Due to Purine Nucleoside Phosphorylase... or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

Genetic Variations for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency:

63
id Symbol AA change Variation 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...

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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...

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

GO Terms for genes affiliated with Immunodeficiency Due to Purine Nucleoside Phosphorylase...

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Immunodeficiency Due to Purine Nucleoside Phosphorylase...

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet