MSMD
MCID: ATY012
MIFTS: 34

Atypical Mycobacteriosis, Familial (MSMD)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Atypical Mycobacteriosis, Familial

MalaCards integrated aliases for Atypical Mycobacteriosis, Familial:

Name: Atypical Mycobacteriosis, Familial 20
Disseminated Atypical Mycobacterial Infection 29 6 17
Idiopathic Infection Caused by Bcg or Atypical Mycobacteria 20 58
Mendelian Susceptibility to Mycobacterial Infections 20 58
Mendelian Susceptibility to Mycobacterial Diseases 20 58
Mendelian Susceptibility to Atypical Mycobacteria 20 58
Atypical Mycobacterial Infection, Disseminated 20 70
Msmd 20 58
Atypical Mycobacterial Infection, Familial Disseminated 20
Mycobacterial Disease, Mendelian Susceptibility to 20

Characteristics:

Orphanet epidemiological data:

58
mendelian susceptibility to mycobacterial diseases
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

ICD10 via Orphanet 33 D84.8
UMLS via Orphanet 71 C3266863
Orphanet 58 ORPHA748
UMLS 70 C0694566

Summaries for Atypical Mycobacteriosis, Familial

GARD : 20 Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, with susceptibility to mycobacteria, such as the vaccine against tuberculosis (bacillus Calmette-Guerin (BCG) and environmental mycobacteria. It is characterized by severe, recurrent infections, either systemic (widespread) or localized. It has many subtypes. The most serious types are the autosomal recessive complete interferon gamma receptor 1 (IFN-gammaR1) and receptor 2 (IFN-gammaR2) deficiencies. MSMD due to partial IFN-gammaR1, partial IFN-gammaR2, complete IL-12R-beta1, complete IL12B, complete ISG15, partial STAT1 and partial IRF8 deficiencies and MSMD due to partial X-linked recessive (XR) mutations are less severe subtypes. Only about half of patients with MSMD have an identified genetic cause. Nine genes are known to be responsible for MSMD. Seven of them are inherited in an autosomal recessive or autosomal dominant pattern ( IFNGR1, IFNGR2, STAT1, IL12B, IL12RB1, IRF8 and I SG15 genes) and 2 are X-linked ( IKBKG and CYBB genes). BCG vaccination should be avoided in those with MSMD. Treatment includes antibiotics and surgery for lymph node removal in some cases. Hematopoietic stem cell transplantation (HSCT) may be considered in specific cases. Prognosis depends on the specific mutation and the associated disorder.

MalaCards based summary : Atypical Mycobacteriosis, Familial, also known as disseminated atypical mycobacterial infection, is related to immunodeficiency 27b and immune deficiency disease. An important gene associated with Atypical Mycobacteriosis, Familial is IFNGR1 (Interferon Gamma Receptor 1), and among its related pathways/superpathways are Toll-like Receptor Signaling Pathway and Toxoplasmosis. Affiliated tissues include lymph node, pineal and liver, and related phenotype is neoplasm.

Related Diseases for Atypical Mycobacteriosis, Familial

Diseases related to Atypical Mycobacteriosis, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency 27b 31.2 IFNGR1 CYBB
2 immune deficiency disease 29.5 IFNGR1 CYBB
3 immunodeficiency 34 11.7
4 immunodeficiency 30 11.6
5 immunodeficiency 27a 11.4
6 immunodeficiency 33 11.4
7 immunodeficiency 28 11.3
8 immunodeficiency 29 11.2
9 immunodeficiency 31a 11.2
10 immunodeficiency 32a 11.2
11 immunodeficiency 42 11.0
12 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency 11.0
13 hyper-ige recurrent infection syndrome 2, autosomal recessive 10.9
14 immunodeficiency 69 10.9
15 immunodeficiency 38 with basal ganglia calcification 10.9
16 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency 10.9
17 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency 10.9
18 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency 10.9
19 x-linked mendelian susceptibility to mycobacterial diseases 10.9
20 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency 10.9
21 hairy cell leukemia 10.3
22 incontinentia pigmenti 10.3
23 ectodermal dysplasia 10.3
24 langerhans cell histiocytosis 10.1
25 immunodeficiency 31b 10.1
26 candidiasis 10.1
27 squamous cell carcinoma 10.1
28 chronic mucocutaneous candidiasis 10.1
29 chronic granulomatous disease 10.1
30 histiocytosis 10.1
31 thyroid carcinoma 10.1
32 human immunodeficiency virus type 1 10.1
33 portal hypertension 10.1
34 pancytopenia 10.1
35 liver disease 10.1
36 mycobacterium fortuitum 10.1
37 mycobacterium kansasii 10.1
38 hemophagocytic lymphohistiocytosis 9.9
39 salmonellosis 9.9
40 osteomyelitis 9.9
41 herpes simplex 9.9
42 chickenpox 9.9
43 mycobacterium abscessus 9.9
44 malaria 9.5 IFNGR1 CYBB

Graphical network of the top 20 diseases related to Atypical Mycobacteriosis, Familial:



Diseases related to Atypical Mycobacteriosis, Familial

Symptoms & Phenotypes for Atypical Mycobacteriosis, Familial

MGI Mouse Phenotypes related to Atypical Mycobacteriosis, Familial:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 CYBB IFNGR1

Drugs & Therapeutics for Atypical Mycobacteriosis, Familial

Search Clinical Trials , NIH Clinical Center for Atypical Mycobacteriosis, Familial

Genetic Tests for Atypical Mycobacteriosis, Familial

Genetic tests related to Atypical Mycobacteriosis, Familial:

# Genetic test Affiliating Genes
1 Disseminated Atypical Mycobacterial Infection 29

Anatomical Context for Atypical Mycobacteriosis, Familial

MalaCards organs/tissues related to Atypical Mycobacteriosis, Familial:

40
Lymph Node, Pineal, Liver, Thyroid

Publications for Atypical Mycobacteriosis, Familial

Articles related to Atypical Mycobacteriosis, Familial:

(show top 50) (show all 135)
# Title Authors PMID Year
1
Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1. 6 61
20015550 2010
2
Disseminated Mycobacterium scrofulaceum infection in a child with interferon-gamma receptor 1 deficiency. 6
19880337 2010
3
A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon. 6
19880857 2010
4
Infections due to various atypical mycobacteria in a Norwegian multiplex family with dominant interferon-gamma receptor deficiency. 6
18171304 2008
5
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. 6
15589309 2004
6
Disseminated Mycobacterium peregrinum infection in a child with complete interferon-gamma receptor-1 deficiency. 6
12712974 2003
7
In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. 6
10811850 2000
8
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. 6
10192386 1999
9
Abnormal regulation of interferon-gamma, interleukin-12, and tumor necrosis factor-alpha in human interferon-gamma receptor 1 deficiency. 6
9806040 1998
10
A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child. 6
9497247 1998
11
Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis. 6
9389728 1997
12
Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon gamma receptor deficiency. 6
9142806 1997
13
A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. 6
8960473 1996
14
Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection. 6
8960475 1996
15
Long-term efficacy and safety during open-label erenumab treatment in Japanese patients with episodic migraine. 61
33764538 2021
16
Bioactivity of a Novel Polycaprolactone-Hydroxyapatite Scaffold Used as a Carrier of Low Dose BMP-2: An In Vitro Study. 61
33535638 2021
17
Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing. 61
33225392 2021
18
Eight years of follow-up experience in children with mendelian susceptibility to mycobacterial disease and review of the literature. 61
33638623 2021
19
MSMD in a 3-Generation Multiplex Kindred Due to Autosomal Dominant STAT1 Deficiency. 61
33064256 2021
20
Clinical and Molecular Findings in Mendelian Susceptibility to Mycobacterial Diseases: Experience From India. 61
33732252 2021
21
Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review. 61
33777053 2021
22
The Spectrum of Response to Erenumab in Patients With Episodic Migraine and Subgroup Analysis of Patients Achieving ≥50%, ≥75%, and 100% Response. 61
32851644 2020
23
DISSEMINATED BACILLUS-CALMETTE-GUÉRIN INFECTIONS AND PRIMARY IMMUNODEFICIENCY DISORDERS IN SINGAPORE: A SINGLE CENTER 15-YEAR RETROSPECTIVE REVIEW. 61
32497805 2020
24
Efficacy and safety of erenumab in women with a history of menstrual migraine. 61
32746775 2020
25
Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients. 61
32602053 2020
26
Effect of Listening to Music on Wingate Anaerobic Test Performance. A Systematic Review and Meta-Analysis. 61
32599941 2020
27
Human Lentiviral Gene Therapy Restores the Cellular Phenotype of Autosomal Recessive Complete IFN-γR1 Deficiency. 61
32355867 2020
28
Mendelian susceptibility to mycobacterial disease: recent discoveries. 61
32025907 2020
29
The monogenic basis of human tuberculosis. 61
32055999 2020
30
Inherited human IFN-γ deficiency underlies mycobacterial disease. 61
32163377 2020
31
Revealing binding selectivity of inhibitors toward bromodomain-containing proteins 2 and 4 using multiple short molecular dynamics simulations and free energy analyses. 61
32496901 2020
32
Effects of Arginine Supplementation on Athletic Performance Based on Energy Metabolism: A Systematic Review and Meta-Analysis. 61
32370176 2020
33
Binding modes and conformational changes of FK506-binding protein 51 induced by inhibitor bindings: insight into molecular mechanisms based on multiple simulation technologies. 61
31198099 2020
34
Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway. 61
32093117 2020
35
Transient Decrease of Circulating and Tissular Dendritic Cells in Patients With Mycobacterial Disease and With Partial Dominant IFNγR1 Deficiency. 61
32676075 2020
36
Molecular mechanism with regard to the binding selectivity of inhibitors toward FABP5 and FABP7 explored by multiple short molecular dynamics simulations and free energy analyses. 61
31917380 2020
37
The spectrum of response to erenumab in patients with chronic migraine and subgroup analysis of patients achieving ≥50%, ≥75%, and 100% response. 61
31816249 2020
38
Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency. 61
31760574 2020
39
IL-12Rβ1 deficiency corresponding to concurrency of two diseases, mendelian susceptibility to mycobacterial disease and Crohn's disease. 61
31788565 2019
40
A Randomized Phase 2 Study of Erenumab for the Prevention of Episodic Migraine in Japanese Adults. 61
31612482 2019
41
Molecular Mechanism of Binding Selectivity of Inhibitors toward BACE1 and BACE2 Revealed by Multiple Short Molecular Dynamics Simulations and Free-Energy Predictions. 61
31545898 2019
42
Molecular Symmetry-Mixed Dichroism in Double Photoionization of H_{2}. 61
31702195 2019
43
Mendelian susceptibility to mycobacterial disease: Clinical and immunological findings of patients suspected for IL12Rβ1 deficiency. 61
31350062 2019
44
Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China. 61
31367980 2019
45
Simultaneous production of fresh water and electricity via multistage solar photovoltaic membrane distillation. 61
31289262 2019
46
Safety and tolerability of moxifloxacin for the treatment of disseminated BCGitis in children. 61
31388545 2019
47
Mendelian susceptibility to mycobacterial disease: 2014-2018 update. 61
30264912 2019
48
Characterization of two novel mutations in IL-12R signaling in MSMD patients. 61
31158284 2019
49
Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease. 61
30715640 2019
50
Erenumab for Preventive Treatment of Migraine: A Systematic Review and Meta-Analysis of Efficacy and Safety. 61
30793254 2019

Variations for Atypical Mycobacteriosis, Familial

ClinVar genetic disease variations for Atypical Mycobacteriosis, Familial:

6 (show top 50) (show all 149)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IFNGR1 NM_000416.2(IFNGR1):c.446C>A (p.Ser149Ter) SNV Pathogenic 17942 rs387906572 GRCh37: 6:137525569-137525569
GRCh38: 6:137204432-137204432
2 IFNGR1 NM_000416.2(IFNGR1):c.131del (p.Pro44fs) Deletion Pathogenic 17943 rs587776853 GRCh37: 6:137528169-137528169
GRCh38: 6:137207032-137207032
3 IFNGR1 NM_001363527.1(IFNGR1):c.-20_-17dup Duplication Pathogenic 17945 rs587776854 GRCh37: 6:137528192-137528193
GRCh38: 6:137207055-137207056
4 IFNGR1 NM_000416.2(IFNGR1):c.200+1G>A SNV Pathogenic 17946 rs587776855 GRCh37: 6:137528099-137528099
GRCh38: 6:137206962-137206962
5 IFNGR1 NM_000416.2(IFNGR1):c.295_306del (p.Trp99_Val102del) Deletion Pathogenic 17948 rs587776857 GRCh37: 6:137527340-137527351
GRCh38: 6:137206203-137206214
6 IFNGR1 NM_000416.2(IFNGR1):c.230G>A (p.Cys77Tyr) SNV Pathogenic 17949 rs104893974 GRCh37: 6:137527416-137527416
GRCh38: 6:137206279-137206279
7 IFNGR1 NM_000416.2(IFNGR1):c.182T>A (p.Val61Glu) SNV Pathogenic 17950 rs121912715 GRCh37: 6:137528118-137528118
GRCh38: 6:137206981-137206981
8 IFNGR1 NM_000416.2(IFNGR1):c.2T>A (p.Met1Lys) SNV Pathogenic 29607 rs387906593 GRCh37: 6:137540463-137540463
GRCh38: 6:137219326-137219326
9 IFNGR1 NM_000416.2(IFNGR1):c.641_644delinsCC (p.Cys214fs) Indel Pathogenic 652535 rs1582634237 GRCh37: 6:137524725-137524728
GRCh38: 6:137203588-137203591
10 IFNGR1 NM_000416.3(IFNGR1):c.476del (p.Val159fs) Deletion Pathogenic 830065 rs1582635229 GRCh37: 6:137525539-137525539
GRCh38: 6:137204402-137204402
11 overlap with 10 genes NC_000006.11:g.(?_136482728)_(137540520_?)del Deletion Pathogenic 830657 GRCh37: 6:136482728-137540520
GRCh38:
12 IFNGR1 NM_000416.2(IFNGR1):c.819_822del (p.Asn274fs) Deletion Pathogenic 17947 rs587776856 GRCh37: 6:137522057-137522060
GRCh38: 6:137200920-137200923
13 IFNGR1 NM_000416.3(IFNGR1):c.86-1_93del Deletion Pathogenic 802277 rs753213766 GRCh37: 6:137528207-137528215
GRCh38: 6:137207070-137207078
14 IFNGR1 NM_000416.2(IFNGR1):c.260T>C (p.Ile87Thr) SNV Pathogenic 17944 rs104893973 GRCh37: 6:137527386-137527386
GRCh38: 6:137206249-137206249
15 IFNGR1 NM_000416.3(IFNGR1):c.523del (p.Tyr175fs) Deletion Pathogenic 208588 rs749956849 GRCh37: 6:137525492-137525492
GRCh38: 6:137204355-137204355
16 IFNGR1 NM_000416.3(IFNGR1):c.295T>C (p.Trp99Arg) SNV Likely pathogenic 830064 rs1582637044 GRCh37: 6:137527351-137527351
GRCh38: 6:137206214-137206214
17 IFNGR1 NM_000416.2(IFNGR1):c.733+1G>T SNV Likely pathogenic 664467 rs1582634064 GRCh37: 6:137524635-137524635
GRCh38: 6:137203498-137203498
18 IFNGR1 NM_000416.3(IFNGR1):c.547-42A>T SNV Likely pathogenic 802275 rs1236009877 GRCh37: 6:137524864-137524864
GRCh38: 6:137203727-137203727
19 IFNGR1 NM_000416.2(IFNGR1):c.373+2T>C SNV Likely pathogenic 462774 rs1554227230 GRCh37: 6:137527271-137527271
GRCh38: 6:137206134-137206134
20 IFNGR1 NM_000416.3(IFNGR1):c.40G>A (p.Val14Met) SNV Conflicting interpretations of pathogenicity 723758 rs11575936 GRCh37: 6:137540425-137540425
GRCh38: 6:137219288-137219288
21 IFNGR1 NM_000416.2(IFNGR1):c.1341C>T (p.Thr447=) SNV Conflicting interpretations of pathogenicity 531671 rs41288979 GRCh37: 6:137519297-137519297
GRCh38: 6:137198160-137198160
22 IFNGR1 NM_000416.2(IFNGR1):c.609G>A (p.Ala203=) SNV Conflicting interpretations of pathogenicity 531672 rs201471898 GRCh37: 6:137524760-137524760
GRCh38: 6:137203623-137203623
23 IFNGR1 NM_000416.2(IFNGR1):c.236A>G (p.Asn79Ser) SNV Uncertain significance 569230 rs377227464 GRCh37: 6:137527410-137527410
GRCh38: 6:137206273-137206273
24 IFNGR1 NM_000416.2(IFNGR1):c.1160C>T (p.Ser387Phe) SNV Uncertain significance 569641 rs1562282319 GRCh37: 6:137519478-137519478
GRCh38: 6:137198341-137198341
25 IFNGR1 NM_000416.2(IFNGR1):c.694A>G (p.Lys232Glu) SNV Uncertain significance 579786 rs200848254 GRCh37: 6:137524675-137524675
GRCh38: 6:137203538-137203538
26 IFNGR1 NM_000416.2(IFNGR1):c.1448A>G (p.Glu483Gly) SNV Uncertain significance 582212 rs1341362925 GRCh37: 6:137519190-137519190
GRCh38: 6:137198053-137198053
27 IFNGR1 NM_000416.2(IFNGR1):c.665A>G (p.His222Arg) SNV Uncertain significance 625961 rs768805562 GRCh37: 6:137524704-137524704
GRCh38: 6:137203567-137203567
28 IFNGR1 NM_000416.2(IFNGR1):c.655G>A (p.Gly219Arg) SNV Uncertain significance 632475 rs1311661488 GRCh37: 6:137524714-137524714
GRCh38: 6:137203577-137203577
29 IFNGR1 NM_000416.2(IFNGR1):c.380T>C (p.Ile127Thr) SNV Uncertain significance 639444 rs149216962 GRCh37: 6:137525635-137525635
GRCh38: 6:137204498-137204498
30 IFNGR1 NM_000416.2(IFNGR1):c.547A>G (p.Ile183Val) SNV Uncertain significance 639650 rs752756474 GRCh37: 6:137524822-137524822
GRCh38: 6:137203685-137203685
31 IFNGR1 NM_000416.2(IFNGR1):c.866C>G (p.Ser289Cys) SNV Uncertain significance 640371 rs775472233 GRCh37: 6:137519772-137519772
GRCh38: 6:137198635-137198635
32 IFNGR1 NM_000416.2(IFNGR1):c.111T>G (p.Ile37Met) SNV Uncertain significance 641232 rs762424077 GRCh37: 6:137528189-137528189
GRCh38: 6:137207052-137207052
33 IFNGR1 NM_000416.2(IFNGR1):c.297G>T (p.Trp99Cys) SNV Uncertain significance 641874 rs1582637035 GRCh37: 6:137527349-137527349
GRCh38: 6:137206212-137206212
34 IFNGR1 NM_000416.2(IFNGR1):c.589G>A (p.Glu197Lys) SNV Uncertain significance 642105 rs55666220 GRCh37: 6:137524780-137524780
GRCh38: 6:137203643-137203643
35 IFNGR1 NM_000416.2(IFNGR1):c.286A>G (p.Asn96Asp) SNV Uncertain significance 649589 rs755616208 GRCh37: 6:137527360-137527360
GRCh38: 6:137206223-137206223
36 IFNGR1 NM_000416.3(IFNGR1):c.547-48_547-45del Deletion Uncertain significance 802276 rs1456987322 GRCh37: 6:137524867-137524870
GRCh38: 6:137203730-137203733
37 IFNGR1 NM_000416.2(IFNGR1):c.871G>T (p.Val291Leu) SNV Uncertain significance 531668 rs1554226264 GRCh37: 6:137519767-137519767
GRCh38: 6:137198630-137198630
38 IFNGR1 NM_000416.2(IFNGR1):c.1342G>T (p.Val448Leu) SNV Uncertain significance 531669 rs146424575 GRCh37: 6:137519296-137519296
GRCh38: 6:137198159-137198159
39 IFNGR1 NM_000416.2(IFNGR1):c.427A>T (p.Ile143Phe) SNV Uncertain significance 531670 rs1360211518 GRCh37: 6:137525588-137525588
GRCh38: 6:137204451-137204451
40 IFNGR1 NM_000416.2(IFNGR1):c.77C>T (p.Pro26Leu) SNV Uncertain significance 652671 rs768232887 GRCh37: 6:137540388-137540388
GRCh38: 6:137219251-137219251
41 IFNGR1 NM_000416.2(IFNGR1):c.665A>G (p.His222Arg) SNV Uncertain significance 625961 rs768805562 GRCh37: 6:137524704-137524704
GRCh38: 6:137203567-137203567
42 IFNGR1 NM_000416.2(IFNGR1):c.1056A>G (p.Ile352Met) SNV Uncertain significance 658801 rs199641966 GRCh37: 6:137519582-137519582
GRCh38: 6:137198445-137198445
43 IFNGR1 NM_000416.2(IFNGR1):c.979T>A (p.Ser327Thr) SNV Uncertain significance 659633 rs755921189 GRCh37: 6:137519659-137519659
GRCh38: 6:137198522-137198522
44 IFNGR1 NM_000416.2(IFNGR1):c.664C>T (p.His222Tyr) SNV Uncertain significance 661761 rs148469894 GRCh37: 6:137524705-137524705
GRCh38: 6:137203568-137203568
45 IFNGR1 NM_000416.2(IFNGR1):c.100A>G (p.Asn34Asp) SNV Uncertain significance 462773 rs555180897 GRCh37: 6:137528200-137528200
GRCh38: 6:137207063-137207063
46 IFNGR1 NM_000416.2(IFNGR1):c.1027G>A (p.Val343Met) SNV Uncertain significance 111207 rs121913185 GRCh37: 6:137519611-137519611
GRCh38: 6:137198474-137198474
47 IFNGR1 NM_000416.2(IFNGR1):c.368G>A (p.Arg123Gln) SNV Uncertain significance 355561 rs146914620 GRCh37: 6:137527278-137527278
GRCh38: 6:137206141-137206141
48 IFNGR1 NM_000416.2(IFNGR1):c.*297G>A SNV Uncertain significance 355547 rs886061126 GRCh37: 6:137518871-137518871
GRCh38: 6:137197734-137197734
49 IFNGR1 NM_000416.2(IFNGR1):c.490G>A (p.Glu164Lys) SNV Uncertain significance 355560 rs146687518 GRCh37: 6:137525525-137525525
GRCh38: 6:137204388-137204388
50 IFNGR1 NM_000416.2(IFNGR1):c.596A>G (p.Gln199Arg) SNV Uncertain significance 355557 rs886061128 GRCh37: 6:137524773-137524773
GRCh38: 6:137203636-137203636

Expression for Atypical Mycobacteriosis, Familial

Search GEO for disease gene expression data for Atypical Mycobacteriosis, Familial.

Pathways for Atypical Mycobacteriosis, Familial

Pathways related to Atypical Mycobacteriosis, Familial according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.32 IFNGR1 CYBB
2
Show member pathways
11.53 IFNGR1 CYBB
3
Show member pathways
11.39 IFNGR1 CYBB
4 10.99 IFNGR1 CYBB
5 10.19 IFNGR1 CYBB

GO Terms for Atypical Mycobacteriosis, Familial

Sources for Atypical Mycobacteriosis, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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