MCID: INT029
MIFTS: 23

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
 
Il7r 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 severe combined immunodeficiency and omenn syndrome. An important gene associated with Interleukin-7 Receptor Alpha Deficiency is CLEC16A (C-Type Lectin Domain Family 16 Member A), and among its related pathways are TSLP Signaling Pathway and IL-15 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types. Affiliated tissues include t cells and thymus.

Related Diseases for Interleukin-7 Receptor Alpha Deficiency

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Graphical network of the top 20 diseases related to Interleukin-7 Receptor Alpha Deficiency:



Diseases related to interleukin-7 receptor alpha deficiency

Symptoms for Interleukin-7 Receptor Alpha Deficiency

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Drugs & Therapeutics for Interleukin-7 Receptor Alpha Deficiency

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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:

34
T cells, Thymus

Animal Models for Interleukin-7 Receptor Alpha Deficiency or affiliated genes

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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 22)
idSuper pathwaysScoreTop Affiliating Genes
110.0IL2RA, IL7R
2
Show member pathways
9.9IL2RA, IL2RG
39.9IL2RA, IL2RG
4
Show member pathways
9.8IL12RB2, IL2RA
59.7IL2RA, IL7, IL7R
69.7IL2RA, IL7, IL7R
79.6IL2RG, IL7R, JAK3
8
Show member pathways
9.5IL2RA, IL2RG, JAK3
9
Show member pathways
9.5IL2RA, IL2RG, JAK3
10
Show member pathways
9.5IL2RA, IL2RG, JAK3
11
Show member pathways
9.5IL2RA, IL2RG, JAK3
129.5IL12RB2, IL2RA, JAK3
13
Show member pathways
9.5IL12RB2, IL2RA, IL2RG
14
Show member pathways
9.4IL2RA, IL2RG, IL7, IL7R
159.3IL12RB2, IL2RA, IL7, IL7R
16
Show member pathways
9.1IL12RB2, IL2RA, IL2RG, JAK3
179.1IL12RB2, IL2RA, IL2RG, JAK3
18
Show member pathways
9.0IL2RA, IL2RG, IL7, IL7R, JAK3
199.0IL2RA, IL2RG, IL7, IL7R, JAK3
20
Show member pathways
8.6IL12RB2, IL2RA, IL2RG, IL7, IL7R, JAK3
21
Show member pathways
8.6IL12RB2, IL2RA, IL2RG, IL7, IL7R, JAK3
22
Show member pathways
8.6IL12RB2, IL2RA, IL2RG, IL7, IL7R, JAK3

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:00098979.2IL12RB2, IL2RA, IL2RG, IL7R

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

idNameGO IDScoreTop Affiliating Genes
1interleukin-7-mediated signaling pathwayGO:003811110.3IL2RG, IL7R
2interleukin-2-mediated signaling pathwayGO:003811010.3IL2RA, IL2RG
3interleukin-4-mediated signaling pathwayGO:003577110.2IL2RG, JAK3
4T cell homeostasisGO:00430299.9IL2RA, JAK3
5positive regulation of activated T cell proliferationGO:00421049.8IL2RA, JAK3
6positive regulation of T cell differentiationGO:00455829.7IL2RA, IL7

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

idNameGO IDScoreTop Affiliating Genes
1interleukin-2 bindingGO:001997610.4IL2RA, IL2RG
2interleukin-2 receptor activityGO:000491110.4IL2RA, IL2RG
3interleukin-7 receptor activityGO:000491710.3IL2RG, IL7R
4Ras guanyl-nucleotide exchange factor activityGO:00050889.5IL2RA, IL2RG, JAK3

Sources for Interleukin-7 Receptor Alpha Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet