MCID: INT029
MIFTS: 30

Interleukin-7 Receptor Alpha Deficiency malady

Summaries for Interleukin-7 Receptor Alpha Deficiency

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8Disease Ontology, 32MalaCards
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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 leukemia. 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 and t cells, and related mouse phenotypes are endocrine/exocrine gland and integument.

Aliases & Classifications for Interleukin-7 Receptor Alpha Deficiency

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8Disease Ontology
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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

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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 45)
idRelated DiseaseScoreTop Affiliating Genes
1adenocarcinoma29.9IL4R, STAT5A
2leukemia29.9IL6R, IL7, KIT, BCL2L11, IL4R, STAT5A
3bronchiolitis10.0IL4R
4arthritis10.0IL6R
5stomach cancer10.0BCL2L11
6multiple myeloma10.0IL6R
7mycosis fungoides10.0IL7
8pituitary adenoma10.0IL6R
9severe combined immunodeficiency10.0IL7
10colorectal cancer10.0IL6R, IL4R
11gamma chain deficiency10.0IL4R, IL7
12adenoma10.0STAT5A, IL6R
13systemic mastocytosis10.0KIT, STAT5A
14myelodysplastic syndromes10.0KIT, STAT5A
15pancreatic cancer10.0BCL2L11, IL6R
16myelofibrosis10.0KIT, STAT5A
17rheumatoid arthritis10.0IL4R, IL7, IL6R
18kaposi's sarcoma10.0IL6R, IL4R
19myeloid leukemia10.0STAT5A, KIT
20precursor b-cell acute lymphoblastic leukemia10.0IL7, KIT
21chronic myelomonocytic leukemia10.0STAT5A, KIT
22hemorrhagic thrombocythemia10.0KIT, STAT5A
23hodgkin's lymphoma10.0
24lung adenocarcinoma10.0
25lung cancer10.0
26lymph node cancer10.0
27neuritis10.0
28optic neuritis10.0
29non-hodgkin lymphoma10.0IL4R, IL7, IL6R
30immunodeficiency with hyper igm type 210.0IL6R, IL4R, IL7
31hematologic cancer10.0STAT5A, IL7, KIT
32chronic myeloid leukemia10.0KIT, STAT5A, CSF2RA
33glioblastoma multiforme10.0BCL2L11, KIT, IL4R, IL6R
34cutaneous t cell lymphoma10.0STAT5A, IL7
35acute lymphocytic leukemia10.0IL7, IL6R, IL4R, KIT
36kidney cancer10.0IL7, KIT, IL6R, IL4R
37multiple sclerosis10.0IL6R, IL4R, CLEC16A, IL7
38ipex syndrome10.0IL6R, STAT5A, IL7, IL4R
39acute leukemia10.0STAT5A, KIT, IL6R, IL7
40asthma10.0STAT5A, IL7, IL9R, IL6R, IL4R
41prostate cancer10.0IL6R, STAT5A, CSF2RA, IL7, BCL2L11
42myeloma10.0BCL2L11, STAT5A, IL4R, IL7, IL6R
43burkitt's lymphoma10.0IL6R, STAT5A, BCL2L11, IL4R, IL7
44melanoma10.0BCL2L11, KIT, IL7, IL4R, STAT5A
45breast cancer9.9KIT, BCL2L11, IL6R, IL7, IL4R, STAT5A

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

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Drugs & Therapeutics for Interleukin-7 Receptor Alpha Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Interleukin-7 Receptor Alpha Deficiency

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Anatomical Context for Interleukin-7 Receptor Alpha Deficiency

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32MalaCards
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MalaCards organs/tissues related to Interleukin-7 Receptor Alpha Deficiency:

32
Thymus, T cells

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

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36MGI
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MGI Mouse Phenotypes related to Interleukin-7 Receptor Alpha Deficiency:

36
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

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50PubMed
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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

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Expression for genes affiliated with Interleukin-7 Receptor Alpha Deficiency

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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

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Sources:
52R&D Systems, 53Reactome, 12EMD Millipore, 51QIAGEN, 37NCBI BioSystems Database, 29KEGG
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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
19.8IL4R, IL9R
2
Immune response Oncostatin M signaling via JAK-Stat in human cells
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9.4STAT5A, IL6R
39.3CSF2RA, EBF1
4
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9.0IL6R, IL4R, STAT5A
5
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8.9IL7, IL6R, IL4R, IL9R
6
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8.7IL6R, IL7, STAT5A, CSF2RA
7
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8.7CSF2RA, IL6R, IL7, STAT5A
8
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8.4STAT5A, IL9R, IL4R, IL7, BCL2L11
98.4BCL2L11, KIT, IL7, IL4R, IL6R
108.3STAT5A, IL7, IL7, IL6R, CSF2RA
11
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8.1KIT, IL6R, IL7, IL4R, CSF2RA, IL9R
128.1IL4R, IL7, IL9R, CSF2RA, KIT, IL6R
138.0STAT5A, IL9R, IL4R, IL6R, IL7, CSF2RA
14
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7.5CSF2RA, STAT5A, IL9R, IL4R, IL7, IL6R
15
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7.5CSF2RA, STAT5A, IL9R, IL4R, IL7, IL6R
16
Hide members
7.1BCL2L11, CSF2RA, KIT, IL6R, IL7, IL4R

Compounds for genes affiliated with Interleukin-7 Receptor Alpha Deficiency

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44Novoseek, 28IUPHAR, 49PharmGKB, 11DrugBank, 24HMDB, 59Tocris Bioscience
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Compounds related to Interleukin-7 Receptor Alpha Deficiency according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1serine4410.4CSF2RA
2glucose4410.0CSF2RA, IL6R
3pkc 412449.6KIT, STAT5A
4il 10449.6IL6R, IL7, IL4R
5ag-1296449.6KIT, STAT5A
6su5416449.6KIT, STAT5A
7methylcellulose449.5KIT, IL7
8gm-csf44 2810.5STAT5A, CSF2RA
9dasatinib44 49 1111.4KIT, STAT5A
10rantes449.3IL4R, IL7, IL6R
11ionomycin449.2IL7, IL4R, STAT5A
12imatinib44 49 1111.2STAT5A, KIT, BCL2L11
13histamine44 28 2411.0KIT, IL6R, IL7, IL4R
14cyclosporin a44 28 5910.9STAT5A, IL4R, IL7, IL6R
15phosphotyrosine448.9STAT5A, IL4R, IL7, KIT
16rapamycin448.9STAT5A, IL7, KIT, BCL2L11
17progesterone44 59 28 11 2412.6STAT5A, IL7, IL6R, KIT
18dexamethasone44 49 28 1111.6STAT5A, IL4R, IL7, IL6R, BCL2L11
19gp 130448.6KIT, IL6R, IL4R, STAT5A, CSF2RA
20thymidine44 249.5STAT5A, IL4R, IL7, IL6R, KIT
21oligonucleotide448.5BCL2L11, KIT, IL6R, IL7, STAT5A
22steroid448.4STAT5A, IL4R, IL7, IL6R, KIT
23vegf448.4STAT5A, IL7, IL6R, KIT
24nitric oxide44 11 2410.3BCL2L11, KIT, IL7, STAT5A
25cycloheximide448.1STAT5A, IL4R, IL7, IL6R, KIT, BCL2L11
26phosphatidylinositol448.1STAT5A, IL4R, IL7, IL6R, KIT, BCL2L11
27tyrosine447.8CSF2RA, STAT5A, IL4R, IL7, IL6R, KIT

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

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Interleukin-7 Receptor Alpha Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet