MCID: INT093
MIFTS: 21

Interferon Gamma, Receptor 1, Deficiency malady

Rare diseases category

Aliases & Classifications for Interferon Gamma, Receptor 1, Deficiency

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Aliases & Descriptions for Interferon Gamma, Receptor 1, Deficiency:

Name: Interferon Gamma, Receptor 1, Deficiency 45
 
Ifngr1 Deficiency 45


Classifications:



Summaries for Interferon Gamma, Receptor 1, Deficiency

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MalaCards based summary: Interferon Gamma, Receptor 1, Deficiency, also known as ifngr1 deficiency, is related to immunodeficiency 27a, mycobacteriosis, ar and immunodeficiency 27b, mycobacteriosis, ad. An important gene associated with Interferon Gamma, Receptor 1, Deficiency is IFNGR1 (Interferon Gamma Receptor 1), and among its related pathways are Jak-STAT signaling pathway and Tuberculosis. Affiliated tissues include bone, bone marrow and testes, and related mouse phenotypes are skeleton and digestive/alimentary.

Related Diseases for Interferon Gamma, Receptor 1, Deficiency

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



Diseases related to interferon gamma, receptor 1, deficiency

Symptoms for Interferon Gamma, Receptor 1, Deficiency

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Drugs & Therapeutics for Interferon Gamma, Receptor 1, Deficiency

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Drugs for Interferon Gamma, Receptor 1, Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
IronapprovedPhase 19577439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Dexiron
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
Ed-In-Sol
 
Eisen
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
2
Aluminum hydroxideapprovedPhase 1169
Synonyms:
Al(OH)3
Aluminiumhydroxid
 
Aluminum Hydroxide
Aluminum hydroxide
Dermadrox
3Interferon-gammaPhase 1135
4
ImidazolePhase 130288-32-4795
Synonyms:
1,3-Diaza-2,4-cyclopentadiene
1,3-Diazole
1H-Imidazole
Glyoxalin
Glyoxaline
 
IMD
Imidazol
Iminazole
Imutex
Miazole
Pyrro(b)monazole
{Pyrro[b]monazole}
5Interleukin-12Phase 1123

Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety and Immunogenicity Study of Na-GST-1 With or Without CpGActive, not recruitingNCT02143518Phase 1
2Interferon Responses in Eczema HerpeticumRecruitingNCT01429311
3Use of G-CSF to Obtain Blood Cell PrecursorsRecruitingNCT00001405
4Evaluation of a Blood Test to Measure Immune Function in HIV Positive People Compared With HIV Negative PeopleTerminatedNCT01904201

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Genetic Tests for Interferon Gamma, Receptor 1, Deficiency

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Anatomical Context for Interferon Gamma, Receptor 1, Deficiency

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

33
Bone, Bone marrow, Testes

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.7IFNG, IFNGR1, LBR
2MP:00053818.6IFNG, IFNGR1, LBR
3MP:00053798.5IFNG, IFNGR1, LBR
4MP:00107718.4IFNG, IFNGR1, LBR
5MP:00053898.2IFNG, IFNGR1, LBR

Publications for Interferon Gamma, Receptor 1, Deficiency

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Articles related to Interferon Gamma, Receptor 1, Deficiency:

idTitleAuthorsYear
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

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

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

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0IFNG, IFNGR1
29.0IFNG, IFNGR1
3
Show member pathways
9.0IFNG, IFNGR1
4
Show member pathways
9.0IFNG, IFNGR1
5
Show member pathways
9.0IFNG, IFNGR1
6
Show member pathways
9.0IFNG, IFNGR1
7
Show member pathways
9.0IFNG, IFNGR1
89.0IFNG, IFNGR1
99.0IFNG, IFNGR1
10
Show member pathways
9.0IFNG, IFNGR1
119.0IFNG, IFNGR1
12
Salmonella infection (KEGG)
Show member pathways
9.0IFNG, IFNGR1
139.0IFNG, IFNGR1
149.0IFNG, IFNGR1
15
Show member pathways
9.0IFNG, IFNGR1
16
Show member pathways
9.0IFNG, IFNGR1

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

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

idNameGO IDScoreTop Affiliating Genes
1regulation of interferon-gamma-mediated signaling pathwayGO:00603349.5IFNG, IFNGR1
2interferon-gamma-mediated signaling pathwayGO:00603339.4IFNG, IFNGR1
3cytokine-mediated signaling pathwayGO:00192219.0IFNG, IFNGR1
4response to virusGO:00096158.7IFNG, IFNGR1

Sources for Interferon Gamma, Receptor 1, Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet