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

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 autoimmune disease of exocrine system and opitz-kaveggia 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 Inflammatory Response Pathway. Affiliated tissues include t cells and thymus.

Related Diseases for Interleukin-7 Receptor Alpha Deficiency

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Diseases related to Interleukin-7 Receptor Alpha Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1autoimmune disease of exocrine system10.1IL7, JAK3
2opitz-kaveggia syndrome10.1IL2RG, IL7, JAK3
3male urethral cancer10.1IL2RA, IL2RG, IL7
4polyradiculoneuropathy10.0IL2RA, IL7
5childhood choriocarcinoma of the testis10.0IL2RA, IL2RG, IL7
6heart lipoma9.9IL2RG, IL7, IL7R, JAK3
7leukemia9.9
8silicosis9.9IL2RG, IL7, IL7R, JAK3
9lung cancer9.7
10hiv-19.7
11acute leukemia9.7
12lymphoma9.7
13optic neuritis9.7
14neuritis9.7
15adenocarcinoma9.7
16cd3epsilon deficiency6.5CLEC16A, DENND1B, EVI5, IL12RB2, IL2RA, IL2RG

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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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-12130

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 20)
idSuper pathwaysScoreTop Affiliating Genes
110.0IL2RA, IL7R
29.9IL2RA, IL2RG
3
Show member pathways
9.8IL12RB2, IL2RA
49.8IL2RA, IL7, IL7R
59.8IL2RA, IL7, IL7R
69.6IL2RG, IL7R, 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
10
Show member pathways
9.5IL12RB2, IL2RA, IL2RG
119.5IL12RB2, IL2RA, JAK3
12
Show member pathways
9.4IL2RA, IL2RG, IL7, IL7R
13
Show member pathways
9.3CXCR5, IL2RG, JAK3
149.2IL12RB2, IL2RA, IL2RG, JAK3
159.1IL2RA, IL2RG, IL7, IL7R, JAK3
168.9CXCR5, IL12RB2, IL2RA, IL7, IL7R
17
Show member pathways
8.8IL12RB2, IL2RA, IL2RG, IL7, IL7R, JAK3
18
Show member pathways
8.6CXCR5, IL12RB2, IL2RA, IL2RG, IL7, IL7R
19
Show member pathways
8.2CXCR5, IL12RB2, IL2RA, IL2RG, IL7, IL7R
20
Show member pathways
8.2CXCR5, 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:00098978.8CXCR5, IL12RB2, IL2RA, IL2RG, IL7R

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1interleukin-7-mediated signaling pathwayGO:003811110.4IL2RG, IL7R
2interleukin-2-mediated signaling pathwayGO:003811010.4IL2RA, IL2RG
3positive regulation of T cell differentiationGO:004558210.4IL2RA, IL7
4interleukin-4-mediated signaling pathwayGO:003577110.4IL2RG, JAK3
5positive regulation of activated T cell proliferationGO:004210410.4IL2RA, JAK3
6lymph node developmentGO:004853510.2CXCR5, IL7R
7T cell homeostasisGO:00430299.9IL2RA, JAK3
8immune responseGO:00069559.7CXCR5, IL2RA, IL2RG, IL7R

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
4Ras 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