MCID: INT029
MIFTS: 19

Interleukin-7 Receptor Alpha Deficiency malady

Immune diseases category

Aliases & Classifications for Interleukin-7 Receptor Alpha Deficiency

About this section

Aliases & Descriptions for Interleukin-7 Receptor Alpha Deficiency:

Name: Interleukin-7 Receptor Alpha Deficiency 10 12
 
Il-7r 10


Classifications:



External Ids:

Disease Ontology10 DOID:0060015

Summaries for Interleukin-7 Receptor Alpha Deficiency

About this section
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 combined immunodeficiency, x-linked, moderate and alternating esotropia. An important gene associated with Interleukin-7 Receptor Alpha Deficiency is IL7R (Interleukin 7 Receptor), and among its related pathways are Primary immunodeficiency and TSLP Signaling Pathway. Affiliated tissues include t cells and thymus.

Related Diseases for Interleukin-7 Receptor Alpha Deficiency

About this section

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

About this section

Drugs & Therapeutics for Interleukin-7 Receptor Alpha Deficiency

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Interleukin-12123

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

About this section

Anatomical Context for Interleukin-7 Receptor Alpha Deficiency

About this section

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

33
T cells, Thymus

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

About this section

Publications for Interleukin-7 Receptor Alpha Deficiency

About this section

Variations for Interleukin-7 Receptor Alpha Deficiency

About this section

Expression for genes affiliated with Interleukin-7 Receptor Alpha Deficiency

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

Pathways for genes affiliated with Interleukin-7 Receptor Alpha Deficiency

About this section

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098979.3IL12RB2, 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:003811110.6IL2RG, IL7R
2interleukin-2-mediated signaling pathwayGO:003811010.5IL2RA, IL2RG
3positive regulation of T cell differentiationGO:004558210.3IL2RA, IL7
4cytokine-mediated signaling pathwayGO:00192219.1FCGR1A, IL12RB2, IL2RG, IL7R
5immune responseGO:00069558.8FCGR1A, IL2RA, IL2RG, IL7, IL7R

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

idNameGO IDScoreTop Affiliating Genes
1interleukin-7 receptor activityGO:000491710.3IL2RG, IL7R
2interleukin-2 receptor activityGO:000491110.2IL2RA, IL2RG
3interleukin-2 bindingGO:001997610.2IL2RA, IL2RG
4cytokine receptor activityGO:00048969.6IL12RB2, IL2RG, IL7R

Sources for Interleukin-7 Receptor Alpha Deficiency

About this section
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