MCID: INT093
MIFTS: 24

Interferon Gamma, Receptor 1, Deficiency

Categories: Rare diseases

Aliases & Classifications for Interferon Gamma, Receptor 1, Deficiency

MalaCards integrated aliases for Interferon Gamma, Receptor 1, Deficiency:

Name: Interferon Gamma, Receptor 1, Deficiency 53
Ifngr1 Deficiency 53

Classifications:



Summaries for Interferon Gamma, Receptor 1, Deficiency

MalaCards based summary : Interferon Gamma, Receptor 1, Deficiency, also known as ifngr1 deficiency, is related to osteomyelitis and immunodeficiency 27a. An important gene associated with Interferon Gamma, Receptor 1, Deficiency is IFNGR1 (Interferon Gamma Receptor 1), and among its related pathways/superpathways are 4-1BB Pathway and Regulation of IFNA signaling. Affiliated tissues include b cells, bone and bone marrow, and related phenotypes are digestive/alimentary and integument

Related Diseases for Interferon Gamma, Receptor 1, Deficiency

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



Diseases related to Interferon Gamma, Receptor 1, Deficiency

Symptoms & Phenotypes for Interferon Gamma, Receptor 1, Deficiency

MGI Mouse Phenotypes related to Interferon Gamma, Receptor 1, Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.33 IFNG IFNGR1 LBR
2 integument MP:0010771 9.13 IFNG IFNGR1 LBR
3 renal/urinary system MP:0005367 8.8 IFNG IFNGR1 LBR

Drugs & Therapeutics for Interferon Gamma, Receptor 1, Deficiency

Search Clinical Trials , NIH Clinical Center for Interferon Gamma, Receptor 1, Deficiency

Genetic Tests for Interferon Gamma, Receptor 1, Deficiency

Anatomical Context for Interferon Gamma, Receptor 1, Deficiency

MalaCards organs/tissues related to Interferon Gamma, Receptor 1, Deficiency:

41
B Cells, Bone, Bone Marrow

Publications for Interferon Gamma, Receptor 1, Deficiency

Articles related to Interferon Gamma, Receptor 1, Deficiency:

# Title Authors Year
1
B-cell lymphoma in a patient with complete interferon gamma receptor 1 deficiency. ( 23800860 )
2013
2
Disseminated Mycobacterium scrofulaceum infection in a child with interferon-gamma receptor 1 deficiency. ( 19880337 )
2010
3
Refractory disseminated coccidioidomycosis and mycobacteriosis in interferon-gamma receptor 1 deficiency. ( 19681704 )
2009
4
Disseminated nontuberculous mycobacterial infection in a child with interferon-gamma receptor 1 deficiency. ( 16602008 )
2006
5
Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-gamma receptor 1 deficiency. ( 16715106 )
2006
6
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. ( 15589309 )
2004
7
Genetic basis of patients with bacille Calmette-GuAcrin osteomyelitis in Japan: identification of dominant partial interferon-gamma receptor 1 deficiency as a predominant type. ( 11865431 )
2002
8
Correction of complete interferon-gamma receptor 1 deficiency by bone marrow transplantation. ( 12393576 )
2002
9
Abnormal regulation of interferon-gamma, interleukin-12, and tumor necrosis factor-alpha in human interferon-gamma receptor 1 deficiency. ( 9806040 )
1998
10
Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis. ( 9389728 )
1997

Variations for Interferon Gamma, Receptor 1, Deficiency

Expression for Interferon Gamma, Receptor 1, Deficiency

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

Pathways for Interferon Gamma, Receptor 1, Deficiency

Pathways related to Interferon Gamma, Receptor 1, Deficiency according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.18 IFNG IFNGR1
2
Show member pathways
12.16 IFNG IFNGR1
3
Show member pathways
12.07 IFNG IFNGR1
4
Show member pathways
12.03 IFNG IFNGR1
5
Show member pathways
11.97 IFNG IFNGR1
6
Show member pathways
11.85 IFNG IFNGR1
7
Show member pathways
11.8 IFNG IFNGR1
8
Show member pathways
11.78 IFNG IFNGR1
9 11.75 IFNG IFNGR1
10
Show member pathways
11.75 IFNG IFNGR1
11
Show member pathways
11.72 IFNG IFNGR1
12
Show member pathways
11.65 IFNG IFNGR1
13 11.62 IFNG IFNGR1
14 11.43 IFNG IFNGR1
15 11.31 IFNG IFNGR1
16 11.26 IFNG IFNGR1
17 11.09 IFNG IFNGR1
18
Show member pathways
10.65 IFNG IFNGR1
19 10.19 IFNG IFNGR1

GO Terms for Interferon Gamma, Receptor 1, Deficiency

Biological processes related to Interferon Gamma, Receptor 1, Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to virus GO:0009615 9.16 IFNG IFNGR1
2 interferon-gamma-mediated signaling pathway GO:0060333 8.96 IFNG IFNGR1
3 regulation of interferon-gamma-mediated signaling pathway GO:0060334 8.62 IFNG IFNGR1

Sources for Interferon Gamma, Receptor 1, 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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