MCID: INT029
MIFTS: 24

Interleukin-7 Receptor Alpha Deficiency malady

Category: Immune diseases

Aliases & Classifications for Interleukin-7 Receptor Alpha Deficiency

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Aliases & Descriptions for Interleukin-7 Receptor Alpha Deficiency:

Name: Interleukin-7 Receptor Alpha Deficiency 11 13
 
Il-7r 11

Classifications:



External Ids:

Disease Ontology11 DOID:0060015

Summaries for Interleukin-7 Receptor Alpha Deficiency

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Disease Ontology:11 A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.

MalaCards based summary: Interleukin-7 Receptor Alpha Deficiency, also known as il-7r, is related to ampulla of vater neoplasm and squamous cell papilloma of skin. An important gene associated with Interleukin-7 Receptor Alpha Deficiency is IL7R (Interleukin 7 Receptor), and among its related pathways are Inflammatory Response Pathway and Immune response_IL-12 signaling pathway. Affiliated tissues include t cells and thymus, and related mouse phenotype endocrine/exocrine gland.

Related Diseases for Interleukin-7 Receptor Alpha Deficiency

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Graphical network of diseases related to Interleukin-7 Receptor Alpha Deficiency:



Diseases related to interleukin-7 receptor alpha deficiency

Symptoms & Phenotypes for Interleukin-7 Receptor Alpha Deficiency

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MGI Mouse Phenotypes related to Interleukin-7 Receptor Alpha Deficiency according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.6CLEC16A, IL12RB2, IL2RA, IL2RG, IL7, IL7R

Drugs & Therapeutics for Interleukin-7 Receptor Alpha Deficiency

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Drugs for Interleukin-7 Receptor Alpha Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Interleukin-12133

Interventional clinical trials:

idNameStatusNCT IDPhase
1IL-7 Receptor Polymorphisms and Immune Recovery With HAARTCompletedNCT00168207
2Genetic Basis of Primary ImmunodeficienciesRecruitingNCT00001788

Search NIH Clinical Center for Interleukin-7 Receptor Alpha Deficiency

Genetic Tests for Interleukin-7 Receptor Alpha Deficiency

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Anatomical Context for Interleukin-7 Receptor Alpha Deficiency

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MalaCards organs/tissues related to Interleukin-7 Receptor Alpha Deficiency:

36
T cells, Thymus

Publications for Interleukin-7 Receptor Alpha Deficiency

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Variations for Interleukin-7 Receptor Alpha Deficiency

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Expression for genes affiliated with Interleukin-7 Receptor Alpha Deficiency

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Search GEO for disease gene expression data for Interleukin-7 Receptor Alpha Deficiency.

Pathways for genes affiliated with Interleukin-7 Receptor Alpha Deficiency

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Pathways related to Interleukin-7 Receptor Alpha Deficiency according to GeneCards Suite gene sharing:

(show all 26)
idSuper pathwaysScoreTop Affiliating Genes
19.9IL2RA, IL2RG
2
Show member pathways
9.8IL12RB2, IL2RA
39.8IL2RA, IL7, IL7R
49.8IL2RA, IL7, IL7R
59.7IL2RG, IL7R, JAK3
6
Show member pathways
9.6IL2RA, IL2RG, JAK3
7
Show member pathways
9.6IL2RA, IL2RG, JAK3
8
Show member pathways
9.6IL2RA, IL2RG, JAK3
9
Show member pathways
9.6IL2RA, IL2RG, JAK3
109.6IL12RB2, IL2RA, IL7R
11
Show member pathways
9.6IL12RB2, IL2RA, IL2RG
129.5IL12RB2, IL2RA, JAK3
139.4IL2RG, IL7, IL7R, JAK3
14
Show member pathways
9.3IL12RB2, IL2RA, IL7R, JAK3
159.3IL12RB2, IL2RA, IL2RG, JAK3
16
Show member pathways
9.3IL12RB2, IL2RA, IL2RG, JAK3
17
Show member pathways
9.2IL2RA, IL2RG, IL7, IL7R, JAK3
18
Show member pathways
9.2IL2RA, IL2RG, IL7, IL7R, JAK3
199.2IL2RA, IL2RG, IL7, IL7R, JAK3
20
Show member pathways
9.1CXCR5, IL2RG, JAK3
21
Show member pathways
8.8IL12RB2, IL2RA, IL2RG, IL7, IL7R, JAK3
22
Show member pathways
8.8IL12RB2, IL2RA, IL2RG, IL7, IL7R, JAK3
238.6CXCR5, IL12RB2, IL2RA, IL7, IL7R
24
Show member pathways
8.3CXCR5, IL12RB2, IL2RA, IL2RG, IL7, IL7R
25
Show member pathways
8.0CXCR5, IL12RB2, IL2RA, IL2RG, IL7, IL7R
26
Show member pathways
8.0CXCR5, IL12RB2, IL2RA, IL2RG, IL7, IL7R

GO Terms for genes affiliated with Interleukin-7 Receptor Alpha Deficiency

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Cellular components related to Interleukin-7 Receptor Alpha Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098978.5CXCR5, IL12RB2, IL2RA, IL2RG, IL7R

Biological processes related to Interleukin-7 Receptor Alpha Deficiency according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1interleukin-7-mediated signaling pathwayGO:003811110.6IL2RG, IL7R
2interleukin-2-mediated signaling pathwayGO:003811010.6IL2RA, IL2RG
3interleukin-4-mediated signaling pathwayGO:003577110.6IL2RG, JAK3
4positive regulation of T cell differentiationGO:004558210.4IL2RA, IL7
5cytokine-mediated signaling pathwayGO:001922110.3IL12RB2, IL2RG, IL7R
6lymph node developmentGO:004853510.1CXCR5, IL7R
7T cell homeostasisGO:00430299.9IL2RA, JAK3
8immune responseGO:00069559.3CXCR5, IL2RA, IL2RG, IL7, IL7R
9positive regulation of GTPase activityGO:00435479.3DENND1B, EVI5, IL2RA, IL2RG, JAK3

Molecular functions related to Interleukin-7 Receptor Alpha Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1interleukin-7 receptor activityGO:000491710.5IL2RG, IL7R
2interleukin-2 bindingGO:001997610.5IL2RA, IL2RG
3interleukin-2 receptor activityGO:000491110.5IL2RA, IL2RG
4cytokine receptor activityGO:000489610.1IL12RB2, IL2RG, IL7R
5Ras guanyl-nucleotide exchange factor activityGO:00050889.6IL2RA, IL2RG, JAK3

Sources for Interleukin-7 Receptor Alpha Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet