MCID: INT029
MIFTS: 26

Interleukin-7 Receptor Alpha Deficiency malady

Summaries for Interleukin-7 Receptor Alpha Deficiency

Sources:
8Disease Ontology, 33MalaCards
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Disease Ontology:8 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: Interleukin-7 Receptor Alpha Deficiency, also known as il-7r, is related to adenocarcinoma and bronchiolitis. An important gene associated with Interleukin-7 Receptor Alpha Deficiency is IL9R (interleukin 9 receptor), and among its related pathways are IL-9 Signaling and its Primary Biological Effects in Different Immune Cell Types and Immune response Oncostatin M signaling via JAK-Stat in human cells. The compounds serine and glucose have been mentioned in the context of this disorder. Affiliated tissues include thymus, nk cells and t cells, and related mouse phenotypes are endocrine/exocrine gland and integument.

Aliases & Classifications for Interleukin-7 Receptor Alpha Deficiency

Sources:
8Disease Ontology
See all sources

Aliases & Descriptions:

interleukin-7 receptor alpha deficiency 8
il-7r 8


External Ids:

Disease Ontology8 DOID:0060015

Related Diseases for Interleukin-7 Receptor Alpha Deficiency

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Interleukin-7 Receptor Alpha Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1adenocarcinoma30.0IL4R, STAT5A
2bronchiolitis10.0IL4R
3arthritis10.0IL6R
4stomach cancer10.0BCL2L11
5multiple myeloma10.0IL6R
6mycosis fungoides10.0IL7
7pituitary adenoma10.0IL6R
8severe combined immunodeficiency10.0IL7
9colorectal cancer10.0IL6R, IL4R
10gamma chain deficiency10.0IL4R, IL7
11adenoma10.0STAT5A, IL6R
12systemic mastocytosis10.0STAT5A, KIT
13myelodysplastic syndromes10.0KIT, STAT5A
14pancreatic cancer10.0BCL2L11, IL6R
15myelofibrosis10.0STAT5A, KIT
16rheumatoid arthritis10.0IL6R, IL7, IL4R
17kaposi's sarcoma10.0IL6R, IL4R
18myeloid leukemia10.0KIT, STAT5A
19precursor b-cell acute lymphoblastic leukemia10.0KIT, IL7
20chronic myelomonocytic leukemia10.0STAT5A, KIT
21hemorrhagic thrombocythemia10.0STAT5A, KIT
22non-hodgkin lymphoma10.0IL6R, IL7, IL4R
23immunodeficiency with hyper igm type 210.0IL4R, IL7, IL6R
24hematologic cancer10.0KIT, IL7, STAT5A
25chronic myeloid leukemia10.0CSF2RA, STAT5A, KIT
26glioblastoma multiforme10.0IL4R, IL6R, KIT, BCL2L11
27cutaneous t cell lymphoma10.0STAT5A, IL7
28acute lymphocytic leukemia10.0KIT, IL6R, IL7, IL4R
29kidney cancer10.0IL4R, IL7, IL6R, KIT
30multiple sclerosis10.0IL6R, IL7, IL4R, CLEC16A
31ipex syndrome10.0IL6R, IL7, IL4R, STAT5A
32acute leukemia10.0KIT, IL6R, IL7, STAT5A
33asthma10.0STAT5A, IL9R, IL4R, IL7, IL6R
34prostate cancer10.0CSF2RA, STAT5A, IL7, IL6R, BCL2L11
35myeloma10.0STAT5A, IL4R, IL7, IL6R, BCL2L11
36burkitt's lymphoma10.0STAT5A, IL4R, IL7, IL6R, BCL2L11
37melanoma10.0STAT5A, IL4R, IL7, KIT, BCL2L11
38leukemia10.0CSF2RA, STAT5A, IL4R, IL7, IL6R, KIT
39breast cancer9.9STAT5A, IL4R, IL7, IL6R, KIT, BCL2L11

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



Diseases related to interleukin-7 receptor alpha deficiency

Clinical Features for Interleukin-7 Receptor Alpha Deficiency

Drugs & Therapeutics for Interleukin-7 Receptor Alpha Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Interleukin-7 Receptor Alpha Deficiency

Drug clinical trials:

Search ClinicalTrials for Interleukin-7 Receptor Alpha Deficiency

Search NIH Clinical Center for Interleukin-7 Receptor Alpha Deficiency

Search CenterWatch for Interleukin-7 Receptor Alpha Deficiency

Genetic Tests for Interleukin-7 Receptor Alpha Deficiency

Anatomical Context for Interleukin-7 Receptor Alpha Deficiency

Sources:
33MalaCards
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MalaCards organs/tissues related to Interleukin-7 Receptor Alpha Deficiency:

33
Thymus, Nk cells, T cells, B cells

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

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Interleukin-7 Receptor Alpha Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.9STAT5A, IL4R, IL6R, KIT, BCL2L11
2MP:00107717.8BCL2L11, KIT, IL4R, EBF1, STAT5A
3MP:00053707.7STAT5A, EBF1, IL4R, IL6R, KIT
4MP:00053977.3STAT5A, EBF1, IL4R, IL7, KIT, BCL2L11
5MP:00053877.0BCL2L11, KIT, IL6R, IL7, IL4R, EBF1
6MP:00053786.8STAT5A, EBF1, CLEC16A, IL4R, IL6R, KIT

Publications for Interleukin-7 Receptor Alpha Deficiency

Sources:
51PubMed
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Articles related to Interleukin-7 Receptor Alpha Deficiency:

idTitleAuthorsYear
1
Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients. (15661025)
2005

Genetic Variations for Interleukin-7 Receptor Alpha Deficiency

Expression for genes affiliated with Interleukin-7 Receptor Alpha Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Interleukin-7 Receptor Alpha Deficiency

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

Pathways for genes affiliated with Interleukin-7 Receptor Alpha Deficiency

Sources:
53R&D Systems, 54Reactome, 12EMD Millipore, 52QIAGEN, 38NCBI BioSystems Database, 30KEGG
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Pathways related to Interleukin-7 Receptor Alpha Deficiency according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8IL9R, IL4R
2
Immune response Oncostatin M signaling via JAK-Stat in human cells
Hide members
9.4IL6R, STAT5A
39.3EBF1, CSF2RA
4
Hide members
9.0IL6R, IL4R, STAT5A
5
Hide members
8.9IL6R, IL7, IL4R, IL9R
6
Hide members
8.7IL6R, IL7, STAT5A, CSF2RA
7
Hide members
8.7CSF2RA, STAT5A, IL7, IL6R
8
Hide members
8.4STAT5A, IL9R, IL4R, IL7, BCL2L11
98.4IL4R, IL7, IL6R, KIT, BCL2L11
108.3CSF2RA, STAT5A, IL7, IL7, IL6R
118.1KIT, IL6R, IL7, IL4R, IL9R, CSF2RA
12
Hide members
8.1CSF2RA, IL9R, IL4R, IL7, IL6R, KIT
138.0CSF2RA, STAT5A, IL9R, IL4R, IL7, IL6R
14
Hide members
7.5CSF2RA, STAT5A, IL9R, IL4R, IL7, IL6R
15
Hide members
7.5CSF2RA, STAT5A, IL9R, IL4R, IL7, IL6R
16
Hide members
7.1CSF2RA, STAT5A, IL9R, IL4R, IL7, IL6R

Compounds for genes affiliated with Interleukin-7 Receptor Alpha Deficiency

Sources:
45Novoseek, 29IUPHAR, 50PharmGKB, 11DrugBank, 24HMDB, 60Tocris Bioscience
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Compounds related to Interleukin-7 Receptor Alpha Deficiency according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1serine4510.4CSF2RA
2glucose4510.0CSF2RA, IL6R
3pkc 412459.6KIT, STAT5A
4il 10459.6IL6R, IL7, IL4R
5ag-1296459.6KIT, STAT5A
6su5416459.6KIT, STAT5A
7methylcellulose459.5KIT, IL7
8gm-csf45 2910.5STAT5A, CSF2RA
9dasatinib45 50 1111.4KIT, STAT5A
10rantes459.3IL4R, IL7, IL6R
11ionomycin459.2IL7, IL4R, STAT5A
12imatinib45 50 1111.2STAT5A, KIT, BCL2L11
13histamine45 29 2411.0KIT, IL6R, IL7, IL4R
14cyclosporin a45 29 6010.9STAT5A, IL4R, IL7, IL6R
15phosphotyrosine458.9STAT5A, IL4R, IL7, KIT
16rapamycin458.9STAT5A, IL7, KIT, BCL2L11
17progesterone45 60 29 11 2412.6STAT5A, IL7, IL6R, KIT
18dexamethasone45 50 29 1111.6STAT5A, IL4R, IL7, IL6R, BCL2L11
19gp 130458.6KIT, IL6R, IL4R, STAT5A, CSF2RA
20thymidine45 249.5STAT5A, IL4R, IL7, IL6R, KIT
21oligonucleotide458.5BCL2L11, KIT, IL6R, IL7, STAT5A
22steroid458.4STAT5A, IL4R, IL7, IL6R, KIT
23vegf458.4STAT5A, IL7, IL6R, KIT
24nitric oxide45 11 2410.3BCL2L11, KIT, IL7, STAT5A
25cycloheximide458.1STAT5A, IL4R, IL7, IL6R, KIT, BCL2L11
26phosphatidylinositol458.1STAT5A, IL4R, IL7, IL6R, KIT, BCL2L11
27tyrosine457.8CSF2RA, STAT5A, IL4R, IL7, IL6R, KIT

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

Sources:
16Gene Ontology
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Cellular components related to Interleukin-7 Receptor Alpha Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.4KIT, IL6R, IL7, IL4R, IL9R

Biological processes related to Interleukin-7 Receptor Alpha Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of developmental pigmentationGO:0480709.5BCL2L11, KIT
2positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.5KIT, IL6R
3T cell homeostasisGO:0430299.2BCL2L11, STAT5A

Products for genes affiliated with Interleukin-7 Receptor Alpha Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Interleukin-7 Receptor Alpha Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet