MCID: INT029
MIFTS: 24

Interleukin-7 Receptor Alpha Deficiency malady

Categories: Immune diseases

Aliases & Classifications for Interleukin-7 Receptor Alpha Deficiency

Aliases & Descriptions for Interleukin-7 Receptor Alpha Deficiency:

Name: Interleukin-7 Receptor Alpha Deficiency 12 14
Il-7r 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060015

Summaries for Interleukin-7 Receptor Alpha Deficiency

Disease Ontology : 12 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/superpathways are PEDF Induced Signaling and Akt Signaling. The drug Interleukin-12 has been mentioned in the context of this disorder. Affiliated tissues include t cells and thymus, and related phenotype is endocrine/exocrine gland.

Related Diseases for Interleukin-7 Receptor Alpha Deficiency

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

(show all 17)
id Related Disease Score Top Affiliating Genes
1 ampulla of vater neoplasm 10.2 IL7 IL7R
2 squamous cell papilloma of skin 10.1 IL2RA IL2RG IL7
3 autoimmune disease of eyes, ear, nose and throat 10.0 IL7 JAK3
4 ectopic thymus 10.0 IL2RG IL7 IL7R JAK3
5 prostatic urethral cancer 10.0 IL2RA IL2RG IL7 IL7R
6 opitz-kaveggia syndrome 10.0 IL2RG IL7 IL7R JAK3
7 childhood choriocarcinoma of the testis 10.0 IL2RA IL2RG JAK3
8 single ventricular heart 10.0 IL2RG IL7 IL7R JAK3
9 leukemia 9.9
10 lung cancer 9.7
11 hiv-1 9.7
12 acute leukemia 9.7
13 lymphoma 9.7
14 optic neuritis 9.7
15 neuritis 9.7
16 adenocarcinoma 9.7
17 cd3gamma deficiency 8.0 CLEC16A CXCR5 DENND1B EVI5 IL12RB2 IL2RA

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



Diseases related to Interleukin-7 Receptor Alpha Deficiency

Symptoms & Phenotypes for Interleukin-7 Receptor Alpha Deficiency

MGI Mouse Phenotypes related to Interleukin-7 Receptor Alpha Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.17 CLEC16A IL12RB2 IL2RA IL2RG IL7 IL7R

Drugs & Therapeutics for Interleukin-7 Receptor Alpha Deficiency

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Interleukin-12

Interventional clinical trials:


id Name Status NCT ID Phase
1 IL-7 Receptor Polymorphisms and Immune Recovery With HAART Completed NCT00168207
2 Genetic Basis of Primary Immunodeficiencies Recruiting NCT00001788

Search NIH Clinical Center for Interleukin-7 Receptor Alpha Deficiency

Genetic Tests for Interleukin-7 Receptor Alpha Deficiency

Anatomical Context for Interleukin-7 Receptor Alpha Deficiency

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

39
T Cells, Thymus

Publications for Interleukin-7 Receptor Alpha Deficiency

Variations for Interleukin-7 Receptor Alpha Deficiency

Expression for Interleukin-7 Receptor Alpha Deficiency

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

Pathways for Interleukin-7 Receptor Alpha Deficiency

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

(show all 26)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.5 CXCR5 IL12RB2 IL2RA IL2RG IL7 IL7R
2
Show member pathways
13.2 CXCR5 IL12RB2 IL2RA IL2RG IL7 IL7R
3
Show member pathways
13.19 IL12RB2 IL2RA IL2RG IL7 IL7R JAK3
4
Show member pathways
13.13 CXCR5 IL12RB2 IL2RA IL2RG IL7 IL7R
5
Show member pathways
12.58 IL2RA IL2RG IL7 IL7R JAK3
6
Show member pathways
12.41 IL12RB2 IL2RA IL2RG JAK3
7 12.36 IL2RA IL2RG IL7 IL7R JAK3
8
Show member pathways
11.97 IL2RA IL2RG JAK3
9 11.93 IL12RB2 IL2RA IL7R
10
Show member pathways
11.89 IL2RA IL2RG JAK3
11 11.81 IL2RA IL7 IL7R
12
Show member pathways
11.79 IL12RB2 IL2RA IL2RG
13
Show member pathways
11.73 CXCR5 IL2RG JAK3
14 11.7 IL2RA IL7 IL7R
15
Show member pathways
11.67 IL12RB2 IL2RA IL2RG IL7 IL7R JAK3
16 11.61 IL12RB2 IL2RA IL7R JAK3
17
Show member pathways
11.48 IL2RA IL2RG JAK3
18 11.46 IL12RB2 IL2RA JAK3
19 11.46 CXCR5 IL12RB2 IL2RA IL7 IL7R
20 11.29 IL12RB2 IL2RA IL2RG JAK3
21 11.15 IL2RA IL2RG
22 11.15 IL2RG IL7R JAK3
23
Show member pathways
11.08 IL12RB2 IL2RA
24
Show member pathways
11.02 IL2RA IL2RG JAK3
25 11 IL2RG IL7 IL7R JAK3
26
Show member pathways
10.66 IL2RA IL2RG IL7 IL7R JAK3

GO Terms for Interleukin-7 Receptor Alpha Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.02 CXCR5 IL12RB2 IL2RA IL2RG IL7R

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.72 DENND1B EVI5 IL2RA IL2RG JAK3
2 immune response GO:0006955 9.65 CXCR5 IL2RA IL2RG IL7 IL7R
3 cytokine-mediated signaling pathway GO:0019221 9.61 IL12RB2 IL2RG IL7R
4 T cell homeostasis GO:0043029 9.46 IL2RA JAK3
5 positive regulation of T cell differentiation GO:0045582 9.4 IL2RA IL7
6 lymph node development GO:0048535 9.37 CXCR5 IL7R
7 interleukin-2-mediated signaling pathway GO:0038110 9.16 IL2RA IL2RG
8 interleukin-4-mediated signaling pathway GO:0035771 8.96 IL2RG JAK3
9 interleukin-7-mediated signaling pathway GO:0038111 8.62 IL2RG IL7R

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

id Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.5 IL2RA IL2RG JAK3
2 interleukin-2 receptor activity GO:0004911 9.26 IL2RA IL2RG
3 interleukin-2 binding GO:0019976 9.16 IL2RA IL2RG
4 cytokine receptor activity GO:0004896 9.13 IL12RB2 IL2RG IL7R
5 interleukin-7 receptor activity GO:0004917 8.62 IL2RG IL7R

Sources for Interleukin-7 Receptor Alpha Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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