MSMD
MCID: ATY012
MIFTS: 45

Atypical Mycobacteriosis, Familial (MSMD) malady

Blood diseases, Genetic diseases categories

Summaries for Atypical Mycobacteriosis, Familial

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46OMIM, 32MalaCards
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MalaCards: Atypical Mycobacteriosis, Familial, also known as atypical mycobacterial infection, disseminated, is related to atypical mycobacteriosis, familial, x-linked 2 and familial atypical mycobacteriosis, x-linked 1. An important gene associated with Atypical Mycobacteriosis, Familial is IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma), and among its related pathways are Chronic myeloid leukemia and Interleukin-3, 5 and GM-CSF signaling. The compounds Interferon gamma-1b and gp 130 have been mentioned in the context of this disorder. Related mouse phenotypes are tumorigenesis and digestive/alimentary.

Description from OMIM:46 300636,300645,209950

Aliases & Classifications for Atypical Mycobacteriosis, Familial

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42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

48
x-linked mendelian susceptibility to mycobacterial diseases:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of death: Normal


Aliases & Descriptions:

atypical mycobacteriosis, familial 42 46
atypical mycobacterial infection, disseminated 42 22 60
x-linked mendelian susceptibility to mycobacterial diseases due to ikbkg deficiency 48
x-linked mendelian susceptibility to mycobacterial diseases due to nemo deficiency 48
x-linked mendelian susceptibility to mycobacterial diseases 48
mycobacterial infection, atypical, familial disseminated 46
atypical mycobacterial infection, familial disseminated 42
mycobacterial disease, mendelian susceptibility to 42
x-linked msmd due to ikbkg deficiency 48
x-linked msmd due to nemo deficiency 48
x-linked msmd 48
msmd 42


External Ids:

ICD10 via Orphanet26 D84.8

Related Diseases for Atypical Mycobacteriosis, Familial

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Atypical Mycobacteriosis, Familial family:

Familial Atypical Mycobacteriosis, Ifngr1-Related Familial Atypical Mycobacteriosis, Ifngr2-Related
Familial Atypical Mycobacteriosis, Il12b-Related Familial Atypical Mycobacteriosis, Il12rb1-Related
Familial Atypical Mycobacteriosis, Tyk2-Related Familial Atypical Mycobacteriosis, Stat1-Related

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

(show all 30)
idRelated DiseaseScoreTop Affiliating Genes
1atypical mycobacteriosis, familial, x-linked 210.3
2familial atypical mycobacteriosis, x-linked 110.3
3myocardial infarction, protection against10.3
4cd11c+/cd1c+ dendritic cell deficiency, dominant10.3
5mendelian susceptibility to mycobacterial diseases due to complete ifngammar2 deficiency10.3
6mendelian susceptibility to mycobacterial diseases due to complete isg15 deficiency10.3
7mendelian susceptibility to mycobacterial diseases due to complete il12rb1 deficiency10.3
8mendelian susceptibility to mycobacterial diseases due to complete il12b deficiency10.3
9mendelian susceptibility to mycobacterial diseases due to complete ifngammar1 deficiency10.3
10autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency10.1
11mendelian susceptibility to mycobacterial diseases due to partial stat1 deficiency10.1
12autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency10.1
13autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency10.1
14autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency10.1
15influenza10.0STAT1
16atherosclerosis10.0STAT1
17hepatitis c10.0STAT1
18measles10.0STAT1
19myeloid leukemia10.0STAT1
20leishmaniasis10.0IFNGR1
21hepatitis10.0STAT1
22leukemia10.0STAT1
23asthma10.0IFNGR2, STAT1
24t-cell leukemia10.0STAT1, IKBKG
25multiple sclerosis10.0STAT1, IFNGR1
26allergic asthma10.0STAT1, IFNGR1, IFNGR2
27sarcoidosis10.0IFNGR2, IFNGR1, STAT1
28tuberculosis10.0IFNGR2, IFNGR1, STAT1
29ipex syndrome10.0IFNGR1, IKBKG, STAT1
30hyper-ige recurrent infection syndrome, autosomal recessive9.9

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



Diseases related to atypical mycobacteriosis, familial

Clinical Features for Atypical Mycobacteriosis, Familial

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Sources:
46OMIM
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Clinical features from OMIM:

300636,300645,209950

Clinical synopsis from OMIM:

209950

Drugs & Therapeutics for Atypical Mycobacteriosis, Familial

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Atypical Mycobacteriosis, Familial

Drug clinical trials:

Search ClinicalTrials for Atypical Mycobacteriosis, Familial

Search NIH Clinical Center for Atypical Mycobacteriosis, Familial

Search CenterWatch for Atypical Mycobacteriosis, Familial

Genetic Tests for Atypical Mycobacteriosis, Familial

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22GTR
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Genetic tests related to Atypical Mycobacteriosis, Familial:

id Genetic test Affiliating Genes
1 Disseminated Atypical Mycobacterial Infection22

Anatomical Context for Atypical Mycobacteriosis, Familial

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Animal Models for Atypical Mycobacteriosis, Familial or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Atypical Mycobacteriosis, Familial:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.6IFNGR1, STAT1, IKBKG
2MP:00053818.5IFNGR1, STAT1, IKBKG
3MP:00053708.4IKBKG, STAT1, IFNGR1
4MP:00053978.1STAT1, IFNGR2, IFNGR1, IKBKG
5MP:00053878.1IFNGR2, IFNGR1, STAT1, IKBKG
6MP:00053848.0IFNGR2, IFNGR1, STAT1, IKBKG
7MP:00053767.7IFNGR1, IFNGR2, STAT1, IKBKG

Publications for Atypical Mycobacteriosis, Familial

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Genetic Variations for Atypical Mycobacteriosis, Familial

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Atypical Mycobacteriosis, Familial:

62 (show all 11)
id Symbol AA change Variation ID SNP ID
1IFNGR1p.Cys77TyrVAR_017577
2IFNGR1p.Ile87ThrVAR_017578
3IFNGR2p.Thr168AsnVAR_023281
4IKBKGp.Glu315AlaVAR_031959
5IKBKGp.Arg319GlnVAR_031960
6IL12RB1p.Arg213TrpVAR_015577
7STAT1p.Leu706SerVAR_018266
8STAT1p.Glu320GlnVAR_065816
9STAT1p.Gln463HisVAR_065817
10STAT1p.Lys637GluVAR_068713
11STAT1p.Lys673ArgVAR_068714

Expression for genes affiliated with Atypical Mycobacteriosis, Familial

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Atypical Mycobacteriosis, Familial

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

Pathways for genes affiliated with Atypical Mycobacteriosis, Familial

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Sources:
29KEGG, 53Reactome, 51QIAGEN, 37NCBI BioSystems Database, 59Tocris Bioscience, 12EMD Millipore, 52R&D Systems
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Pathways related to Atypical Mycobacteriosis, Familial according to GeneCards/GeneDecks:

(show all 36)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3IKBKG, STAT1
2
Hide members
9.3STAT1, IKBKG
3
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9.3STAT1, IKBKG
49.3IKBKG, STAT1
5
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9.3STAT1, IKBKG
6
Development PDGF signaling via STATs and NF-kB
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9.3STAT1, IKBKG
79.3IKBKG, STAT1
89.3IKBKG, STAT1
99.3STAT1, IKBKG
10
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9.3IKBKG, STAT1
11
Development Prolactin receptor signaling
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9.3IKBKG, STAT1
129.1IFNGR2, IFNGR1
13
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9.1IFNGR1, IFNGR2
149.1IFNGR1, IFNGR2
159.1IFNGR1, IFNGR2
16
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9.1IFNGR1, IFNGR2
17
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9.0STAT1, IFNGR1
18
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8.6IKBKG, IFNGR1, IFNGR2
19
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8.6IKBKG, IFNGR1, IFNGR2
20
Immune response IFN gamma signaling pathway
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8.5STAT1, IFNGR1, IFNGR2
21
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8.5IFNGR2, IFNGR1, STAT1
228.5IFNGR2, IFNGR1, STAT1
238.5IFNGR2, IFNGR1, STAT1
248.5STAT1, IFNGR1, IFNGR2
258.5STAT1, IFNGR1, IFNGR2
268.5IFNGR2, IFNGR1, STAT1
278.5STAT1, IFNGR1, IFNGR2
28
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8.0IFNGR2, IFNGR1, STAT1, IKBKG
29
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8.0IFNGR2, IFNGR1, STAT1, IKBKG
30
Hide members
8.0IKBKG, STAT1, IFNGR1, IFNGR2
318.0IKBKG, STAT1, IFNGR1, IFNGR2
32
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8.0IKBKG, STAT1, IFNGR1, IFNGR2
33
Immune response Bacterial infections in normal airways
8.0IKBKG, STAT1, IFNGR1, IFNGR2
34
Hide members
8.0IFNGR2, IFNGR1, STAT1, IKBKG
35
Hide members
8.0IFNGR2, IFNGR1, STAT1, IKBKG
36
Hide members
8.0IFNGR2, IFNGR1, STAT1, IKBKG

Compounds for genes affiliated with Atypical Mycobacteriosis, Familial

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11DrugBank, 44Novoseek
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Compounds related to Atypical Mycobacteriosis, Familial according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Interferon gamma-1b119.0IFNGR1, IFNGR2
2gp 130449.0STAT1, IFNGR1
3deferoxamine44 119.7STAT1, IFNGR1

GO Terms for genes affiliated with Atypical Mycobacteriosis, Familial

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16Gene Ontology
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Biological processes related to Atypical Mycobacteriosis, Familial according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of interferon-gamma-mediated signaling pathwayGO:0603348.5STAT1, IFNGR1, IFNGR2
2cytokine-mediated signaling pathwayGO:0192218.5STAT1, IFNGR1, IFNGR2
3interferon-gamma-mediated signaling pathwayGO:0603338.4STAT1, IFNGR1, IFNGR2
4response to virusGO:0096158.3IFNGR2, IFNGR1, IKBKG

Molecular functions related to Atypical Mycobacteriosis, Familial according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1interferon-gamma receptor activityGO:0049069.1IFNGR1, IFNGR2

Products for genes affiliated with Atypical Mycobacteriosis, Familial

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  • Antibodies
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  • Lysates
  • Antibodies

Sources for Atypical Mycobacteriosis, Familial

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet