MCID: INT093
MIFTS: 19

Interferon Gamma, Receptor 1, Deficiency malady

Summaries for Interferon Gamma, Receptor 1, Deficiency

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MalaCards: Interferon Gamma, Receptor 1, Deficiency, also known as ifngr1 deficiency, is related to tuberculosis and autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency. An important gene associated with Interferon Gamma, Receptor 1, Deficiency is IFNGR1 (interferon gamma receptor 1), and among its related pathways are Interferon Pathway and Toll Comparative Pathway. The compounds tuberculin and okt3 have been mentioned in the context of this disorder. Related mouse phenotypes are digestive/alimentary and endocrine/exocrine gland.

Aliases & Classifications for Interferon Gamma, Receptor 1, Deficiency

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43NIH Rare Diseases
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Aliases & Descriptions:

interferon gamma, receptor 1, deficiency 43
ifngr1 deficiency 43


Related Diseases for Interferon Gamma, Receptor 1, Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Interferon Gamma, Receptor 1, Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1tuberculosis30.3IFNG, LBR, IFNGR1
2autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency10.4
3autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency10.4
4mendelian susceptibility to mycobacterial diseases due to complete ifngammar1 deficiency10.4
5coccidioidomycosis10.3
6t cell deficiency10.3
7mycobacterium fortuitum10.3
8hematopoietic stem cell transplantation10.3
9mycobacterium avium complex disease10.0IFNGR1
10typhoid fever10.0IFNGR1
11osteomyelitis10.0IFNGR1
12hepatitis c10.0IFNG
13myasthenia gravis10.0IFNG
14measles10.0LBR
15chronic fatigue syndrome10.0LBR
16arthritis10.0IFNG
17thymoma10.0LBR
18pulmonary tuberculosis10.0IFNG, IFNGR1
19primary biliary cirrhosis10.0LBR
20allergic asthma10.0IFNG, IFNGR1
21schistosomiasis10.0IFNGR1, IFNG
22pulmonary sarcoidosis10.0LBR, IFNG
23toxic shock syndrome10.0LBR, IFNG
24lymphopenia10.0IFNG, LBR
25idiopathic pulmonary fibrosis10.0IFNG, LBR
26influenza10.0IFNG, LBR
27asthma10.0LBR, IFNG
28atopic dermatitis10.0LBR, IFNG
29leishmaniasis10.0IFNGR1, IFNG
30tetanus10.0LBR, IFNG
31rheumatoid arthritis10.0LBR, IFNG
32systemic lupus erythematosus10.0IFNGR1, LBR, IFNG
33sarcoidosis10.0LBR, IFNG, IFNGR1
34viral infectious disease10.0LBR, IFNG, IFNGR1
35ipex syndrome10.0LBR, IFNGR1, IFNG
36multiple sclerosis10.0IFNGR1, IFNG, LBR

Graphical network of the top 20 diseases related to Interferon Gamma, Receptor 1, Deficiency:



Diseases related to interferon gamma, receptor 1, deficiency

Clinical Features for Interferon Gamma, Receptor 1, Deficiency

Drugs & Therapeutics for Interferon Gamma, Receptor 1, Deficiency

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

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Drug clinical trials:

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Genetic Tests for Interferon Gamma, Receptor 1, Deficiency

Anatomical Context for Interferon Gamma, Receptor 1, Deficiency

Animal Models for Interferon Gamma, Receptor 1, Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Interferon Gamma, Receptor 1, Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.6LBR, IFNGR1, IFNG
2MP:00053798.5LBR, IFNGR1, IFNG
3MP:00053898.5LBR, IFNGR1, IFNG
4MP:00053908.4IFNG, IFNGR1, LBR
5MP:00107718.2LBR, IFNGR1, IFNG

Publications for Interferon Gamma, Receptor 1, Deficiency

Genetic Variations for Interferon Gamma, Receptor 1, Deficiency

Expression for genes affiliated with Interferon Gamma, Receptor 1, Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Interferon Gamma, Receptor 1, Deficiency

Search GEO for disease gene expression data for Interferon Gamma, Receptor 1, Deficiency.

Pathways for genes affiliated with Interferon Gamma, Receptor 1, Deficiency

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52QIAGEN, 12EMD Millipore, 30KEGG, 38NCBI BioSystems Database, 54Reactome, 53R&D Systems
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Pathways related to Interferon Gamma, Receptor 1, Deficiency according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3IFNG, IFNGR1
2
Hide members
9.3IFNG, IFNGR1
39.3IFNG, IFNGR1
4
Immune response Bacterial infections in normal airways
9.3IFNG, IFNGR1
59.3IFNGR1, IFNG
6
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9.3IFNGR1, IFNG
79.3IFNGR1, IFNG
8
Hide members
9.3IFNGR1, IFNG
9
Hide members
9.3IFNGR1, IFNG
109.3IFNGR1, IFNG
119.3IFNGR1, IFNG
129.3IFNGR1, IFNG
13
Hide members
9.3IFNGR1, IFNG
14
Hide members
9.3IFNGR1, IFNG
15
Immune response IFN gamma signaling pathway
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9.3IFNGR1, IFNG
169.3IFNGR1, IFNG
179.3IFNGR1, IFNG
18
Hide members
9.3IFNGR1, IFNG

Compounds for genes affiliated with Interferon Gamma, Receptor 1, Deficiency

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45Novoseek, 50PharmGKB, 11DrugBank
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Compounds related to Interferon Gamma, Receptor 1, Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tuberculin459.4LBR, IFNG
2okt3459.3LBR, IFNG
3con a459.3IFNG, LBR
4infliximab45 50 1111.2LBR, IFNG
5ribavirin45 50 1111.2IFNG, LBR
6deferoxamine45 1110.2LBR, IFNGR1
7pentoxifylline45 1110.1LBR, IFNG
8rantes459.1LBR, IFNG
9neopterin459.0LBR, IFNG
10ionomycin458.8LBR, IFNG

GO Terms for genes affiliated with Interferon Gamma, Receptor 1, Deficiency

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16Gene Ontology
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Biological processes related to Interferon Gamma, Receptor 1, Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of interferon-gamma-mediated signaling pathwayGO:0603349.3IFNGR1, IFNG
2cytokine-mediated signaling pathwayGO:0192219.3IFNGR1, IFNG
3interferon-gamma-mediated signaling pathwayGO:0603339.2IFNGR1, IFNG
4response to virusGO:0096159.0IFNGR1, IFNG

Products for genes affiliated with Interferon Gamma, Receptor 1, Deficiency

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Sources for Interferon Gamma, Receptor 1, 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