MCID: INT029
MIFTS: 25

Interleukin-7 Receptor Alpha Deficiency

Categories: Immune diseases

Aliases & Classifications for Interleukin-7 Receptor Alpha Deficiency

MalaCards integrated aliases for Interleukin-7 Receptor Alpha Deficiency:

Name: Interleukin-7 Receptor Alpha Deficiency 12 15
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 b cell linker protein deficiency and lymphoblastic leukemia, acute, with lymphomatous features. 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 TGF-Beta Pathway. Affiliated tissues include t cells and thymus, and related phenotypes are endocrine/exocrine gland and hematopoietic system

Related Diseases for Interleukin-7 Receptor Alpha Deficiency

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.76 DENND1B IL12RB2 IL2RA IL2RG IL7 IL7R
2 hematopoietic system MP:0005397 9.65 DENND1B FPR1 IL12RB2 IL2RA IL2RG IL7
3 immune system MP:0005387 9.28 CXCR5 DENND1B FPR1 IL12RB2 IL2RA IL2RG

Drugs & Therapeutics for Interleukin-7 Receptor Alpha Deficiency

Search Clinical Trials , 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:

41
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 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.52 CXCR5 IL12RB2 IL2RA IL2RG IL7 IL7R
2
Show member pathways
13.34 IL12RB2 IL2RA IL2RG IL7 IL7R JAK3
3
Show member pathways
13.2 CXCR5 IL12RB2 IL2RA IL2RG IL7 IL7R
4
Show member pathways
13.13 FPR1 IL12RB2 IL2RA IL2RG IL7 IL7R
5
Show member pathways
13.12 CXCR5 IL12RB2 IL2RA IL2RG IL7 IL7R
6
Show member pathways
12.78 IL2RA IL2RG IL7 IL7R JAK3
7
Show member pathways
12.71 IL2RA IL2RG IL7 IL7R JAK3
8 12.57 IL12RB2 IL2RA IL2RG IL7 IL7R JAK3
9
Show member pathways
12.39 IL12RB2 IL2RA IL2RG IL7 IL7R JAK3
10
Show member pathways
12.25 IL12RB2 IL2RA IL2RG JAK3
11
Show member pathways
12.08 IL12RB2 IL2RG JAK3
12
Show member pathways
11.97 IL2RA IL2RG JAK3
13
Show member pathways
11.94 IL12RB2 IL2RA IL2RG JAK3
14
Show member pathways
11.92 IL2RA IL2RG IL7 IL7R
15
Show member pathways
11.9 IL2RA IL2RG JAK3
16 11.82 IL2RA IL7 IL7R
17
Show member pathways
11.8 IL12RB2 IL2RA IL2RG
18
Show member pathways
11.79 IL2RA IL2RG JAK3
19 11.71 IL2RA IL7 IL7R
20 11.7 IL12RB2 IL2RA IL7R JAK3
21
Show member pathways
11.5 IL2RA IL2RG JAK3
22 11.26 CXCR5 IL12RB2 IL2RA IL7 IL7R
23 11.22 IL12RB2 IL2RA IL2RG JAK3
24 11.18 IL2RG IL7R JAK3
25 11.15 IL2RA IL2RG
26
Show member pathways
11.08 IL12RB2 IL2RA
27 10.9 IL2RG IL7 IL7R JAK3
28
Show member pathways
10.68 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:

# 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.77 CXCR5 IL2RA IL2RG IL7 IL7R
2 T cell homeostasis GO:0043029 9.49 IL2RA JAK3
3 positive regulation of T cell differentiation GO:0045582 9.48 IL2RA IL7
4 lymph node development GO:0048535 9.46 CXCR5 IL7R
5 interleukin-15-mediated signaling pathway GO:0035723 9.43 IL2RG JAK3
6 interleukin-21-mediated signaling pathway GO:0038114 9.4 IL2RG JAK3
7 interleukin-2-mediated signaling pathway GO:0038110 9.33 IL2RA IL2RG JAK3
8 interleukin-9-mediated signaling pathway GO:0038113 9.32 IL2RG JAK3
9 interleukin-4-mediated signaling pathway GO:0035771 9.26 IL2RG JAK3
10 interleukin-7-mediated signaling pathway GO:0038111 9.26 IL2RG IL7 IL7R JAK3
11 cytokine-mediated signaling pathway GO:0019221 9.17 FPR1 IL12RB2 IL2RA IL2RG IL7 IL7R

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

# Name GO ID Score Top Affiliating Genes
1 Rab GTPase binding GO:0017137 9.54 CLEC16A DENND1B EVI5
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.5 IL2RA IL2RG JAK3
3 cytokine receptor activity GO:0004896 9.43 IL12RB2 IL2RG IL7R
4 interleukin-2 binding GO:0019976 9.16 IL2RA IL2RG
5 interleukin-2 receptor activity GO:0004911 8.96 IL2RA IL2RG
6 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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