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 10 12
Il-7r 10
 
Il7r 10

Classifications:



External Ids:

Disease Ontology10 DOID:0060015

Summaries for Interleukin-7 Receptor Alpha Deficiency

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Disease Ontology:10 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 MRC1 (Mannose Receptor, C Type 1), and among its related pathways are TSLP Signaling Pathway and Primary immunodeficiency. Affiliated tissues include t cells, thymus and b cells.

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Interleukin-12125

Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic 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:

33
T cells, Thymus, B cells, Spleen, Skin, Prostate, Endothelial

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 13)
idSuper pathwaysScoreTop Affiliating Genes
19.9IL2RA, IL7R
29.9IL2RG, IL7R
3
Show member pathways
9.8IL2RA, IL2RG
49.8IL2RA, IL2RG
5
Show member pathways
9.8IL12RB2, IL2RA
69.7IL2RA, IL7, IL7R
7
Show member pathways
9.4IL12RB2, IL2RA, IL2RG
8
Show member pathways
9.4IL12RB2, IL2RA, IL2RG
99.4IL12RB2, IL2RA, IL2RG
109.4FCGR1A, IL2RA, IL7, IL7R
119.3IL2RA, IL2RG, IL7, IL7R
129.3IL12RB2, IL2RA, IL7, IL7R
13
Show member pathways
8.9IL12RB2, IL2RA, IL2RG, IL7, IL7R

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

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

idNameGO IDScoreTop Affiliating Genes
1interleukin-2-mediated signaling pathwayGO:00381109.8IL2RA, IL2RG

Sources for Interleukin-7 Receptor Alpha Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet