MCID: INT093
MIFTS: 25

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 49
Ifngr1 Deficiency 49

Classifications:



Summaries for Interferon Gamma, Receptor 1, Deficiency

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Mendelian susceptibility to mycobacterial diseases.

MalaCards based summary : Interferon Gamma, Receptor 1, Deficiency, also known as ifngr1 deficiency, is related to osteomyelitis and mycobacterium tuberculosis 1. An important gene associated with Interferon Gamma, Receptor 1, Deficiency is IFNGR1 (Interferon Gamma Receptor 1), and among its related pathways/superpathways are Th17 cell differentiation and Interferon gamma signaling. Affiliated tissues include bone and bone marrow, and related phenotypes are digestive/alimentary and integument

Related Diseases for Interferon Gamma, Receptor 1, Deficiency

Diseases related to Interferon Gamma, Receptor 1, Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 osteomyelitis 29.2 IFNG IFNGR1
2 mycobacterium tuberculosis 1 28.6 IFNG IFNGR1
3 immunodeficiency 27a 11.6
4 immunodeficiency 27b 11.5
5 hematopoietic stem cell transplantation 9.8
6 coccidioidomycosis 9.8
7 mycobacterium fortuitum 9.8
8 eczema herpeticum 9.7 IFNG IFNGR1
9 lepromatous leprosy 9.7 IFNG IFNGR1
10 typhoid fever 9.7 IFNG IFNGR1
11 tetanus 9.7 IFNG LBR
12 salmonellosis 9.7 IFNG IFNGR1
13 lymphadenitis 9.7 IFNG IFNGR1
14 helicobacter pylori infection 9.7 IFNG IFNGR1
15 schistosomiasis 9.7 IFNG IFNGR1
16 pulmonary tuberculosis 9.6 IFNG IFNGR1
17 visceral leishmaniasis 9.6 IFNG IFNGR1
18 leishmaniasis 9.6 IFNG IFNGR1
19 omenn syndrome 9.5 IFNG IFNGR1
20 immune deficiency disease 9.4 IFNG IFNGR1

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.33 IFNGR1 LBR IFNG
2 integument MP:0010771 9.13 IFNG IFNGR1 LBR
3 renal/urinary system MP:0005367 8.8 IFNGR1 LBR IFNG

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:

38
Bone, Bone Marrow

Publications for Interferon Gamma, Receptor 1, Deficiency

Articles related to Interferon Gamma, Receptor 1, Deficiency:

# Title Authors Year
1
Disseminated Mycobacterium scrofulaceum infection in a child with interferon-gamma receptor 1 deficiency. ( 19880337 )
2010
2
Refractory disseminated coccidioidomycosis and mycobacteriosis in interferon-gamma receptor 1 deficiency. ( 19681704 )
2009
3
Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-gamma receptor 1 deficiency. ( 16715106 )
2006
4
Disseminated nontuberculous mycobacterial infection in a child with interferon-gamma receptor 1 deficiency. ( 16602008 )
2006
5
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. ( 15589309 )
2004
6
Correction of complete interferon-gamma receptor 1 deficiency by bone marrow transplantation. ( 12393576 )
2002
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
Abnormal regulation of interferon-gamma, interleukin-12, and tumor necrosis factor-alpha in human interferon-gamma receptor 1 deficiency. ( 9806040 )
1998
9
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 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.13 IFNG IFNGR1
2
Show member pathways
12.08 IFNG IFNGR1
3
Show member pathways
12.07 IFNG IFNGR1
4
Show member pathways
12.05 IFNG IFNGR1
5
Show member pathways
11.92 IFNG IFNGR1
6
Show member pathways
11.87 IFNG IFNGR1
7
Show member pathways
11.82 IFNG IFNGR1
8
Show member pathways
11.79 IFNG IFNGR1
9 11.78 IFNG IFNGR1
10
Show member pathways
11.75 IFNG IFNGR1
11
Show member pathways
11.69 IFNG IFNGR1
12 11.67 IFNG IFNGR1
13 11.51 IFNG IFNGR1
14
Show member pathways
11.39 IFNG IFNGR1
15 11.34 IFNG IFNGR1
16 11.32 IFNG IFNGR1
17 11.19 IFNG IFNGR1
18
Show member pathways
10.97 IFNG IFNGR1
19
Show member pathways
10.85 IFNG IFNGR1
20 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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