MSMD
MCID: ATY012
MIFTS: 43

Atypical Mycobacteriosis, Familial (MSMD) malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Atypical Mycobacteriosis, Familial

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48OMIM, 34MalaCards
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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 IFNGR1 (interferon gamma receptor 1), and among its related pathways are all-trans-Retinoic Acid Mediated Apoptosis and HIF-1 signaling pathway. The compounds deferoxamine and gp 130 have been mentioned in the context of this disorder. Related mouse phenotypes are digestive/alimentary and tumorigenesis.

Description from OMIM:48 300636,300645,209950

Aliases & Classifications for Atypical Mycobacteriosis, Familial

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44NIH Rare Diseases, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
x-linked mendelian susceptibility to mycobacterial diseases:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of death: Normal


Aliases & Descriptions:

atypical mycobacteriosis, familial 44 48
atypical mycobacterial infection, disseminated 44 23 63
x-linked mendelian susceptibility to mycobacterial diseases due to ikbkg deficiency 50
x-linked mendelian susceptibility to mycobacterial diseases due to nemo deficiency 50
x-linked mendelian susceptibility to mycobacterial diseases 50
mycobacterial infection, atypical, familial disseminated 48
atypical mycobacterial infection, familial disseminated 44
mycobacterial disease, mendelian susceptibility to 44
x-linked msmd due to ikbkg deficiency 50
x-linked msmd due to nemo deficiency 50
x-linked msmd 50
msmd 44


External Ids:

ICD10 via Orphanet27 D84.8

Related Diseases for Atypical Mycobacteriosis, Familial

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18GeneCards, 19GeneDecks
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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 27)
idRelated DiseaseScoreTop Affiliating Genes
1atypical mycobacteriosis, familial, x-linked 210.4
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
15immunodeficiency, common variable, 710.0IL12RB1, IFNGR1
16pulmonary tuberculosis10.0IFNGR1, IL12RB1
17cork-handlers' disease10.0IL12RB1, IFNGR1
18hyper-ige recurrent infection syndrome, autosomal recessive10.0
19ulcerative colitis10.0IL12RB1, STAT1
20systemic lupus erythematosus9.9STAT1, IFNGR1, IL12RB1
21t-cell leukemia9.9IKBKG, STAT1
22asthma9.9STAT1, IFNGR2, IL12RB1
23sarcoidosis9.9IL12RB1, IFNGR1, IFNGR2, STAT1
24allergic asthma9.9STAT1, IFNGR2, IFNGR1, IL12RB1
25tuberculosis9.9IL12RB1, IFNGR1, IFNGR2, STAT1
26ipex syndrome9.9IL12RB1, IFNGR1, IKBKG, STAT1
27breast cancer9.9IFNGR1, IFNGR2, IKBKG, STAT1

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



Diseases related to atypical mycobacteriosis, familial

Symptoms for Atypical Mycobacteriosis, Familial

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48OMIM
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Symptoms by clinical synopsis from OMIM:

209950

Clinical features from OMIM:

300636,300645,209950

Drugs & Therapeutics for Atypical Mycobacteriosis, Familial

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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23GTR
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Genetic tests related to Atypical Mycobacteriosis, Familial:

id Genetic test Affiliating Genes
1 Disseminated Atypical Mycobacterial Infection23

Anatomical Context for Atypical Mycobacteriosis, Familial

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Animal Models for Atypical Mycobacteriosis, Familial or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Atypical Mycobacteriosis, Familial:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.6IFNGR1, IKBKG, STAT1
2MP:00020068.5IFNGR1, IKBKG, STAT1
3MP:00053708.3STAT1, IKBKG, IFNGR1
4MP:00053977.6IL12RB1, IFNGR1, IFNGR2, IKBKG, STAT1
5MP:00053877.6STAT1, IKBKG, IFNGR2, IFNGR1, IL12RB1
6MP:00053767.5STAT1, IKBKG, IFNGR2, IFNGR1, IL12RB1

Publications for Atypical Mycobacteriosis, Familial

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Variations for Atypical Mycobacteriosis, Familial

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Atypical Mycobacteriosis, Familial:

65 (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

Clinvar genetic disease variations for Atypical Mycobacteriosis, Familial:

1 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1IFNGR2IFNGR2, 2-BP DEL, 278AGdeletionPathogenic
2IFNGR2NM_005534.3(IFNGR2): c.503C> A (p.Thr168Asn)single nucleotide variantPathogenicrs74315444GRCh37Chr 21, 34799281: 34799281
3IFNGR2IFNGR2, 7-BP DEL, NT663deletionPathogenic
4IFNGR1NM_000416.2(IFNGR1): c.446C> A (p.Ser149Ter)single nucleotide variantPathogenicrs387906572GRCh37Chr 6, 137525569: 137525569
5IFNGR1IFNGR1, 4-BP INS, 107TTACinsertionPathogenic
6IFNGR1IFNGR1, IVS3DS, G-A, +1single nucleotide variantPathogenic
7IFNGR1IFNGR1, 12-BP DEL, NT295deletionPathogenic
8IFNGR1NM_000416.2(IFNGR1): c.182T> A (p.Val61Glu)single nucleotide variantPathogenicrs121912715GRCh37Chr 6, 137528118: 137528118
9IFNGR1IFNGR1, 3-BP DEL, 652GAA or 653AAGdeletionPathogenic
10IFNGR1IFNGR1, 1-BP DEL, 794TdeletionPathogenic
11IFNGR1NM_000416.2(IFNGR1): c.2T> A (p.Met1Lys)single nucleotide variantPathogenicrs387906593GRCh37Chr 6, 137540463: 137540463
12STAT1NM_007315.3(STAT1): c.2117T> C (p.Leu706Ser)single nucleotide variantPathogenicrs137852677GRCh37Chr 2, 191840556: 191840556
13STAT1NM_007315.3(STAT1): c.1389G> T (p.Gln463His)single nucleotide variantPathogenicrs137852679GRCh37Chr 2, 191848425: 191848425
14STAT1NM_007315.3(STAT1): c.958G> C (p.Glu320Gln)single nucleotide variantPathogenicrs137852680GRCh37Chr 2, 191856033: 191856033

Expression for genes affiliated with Atypical Mycobacteriosis, Familial

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2BioGPS, 16Gene 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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51PathCards, 54QIAGEN, 31KEGG, 61Thomson Reuters, 56Reactome, 39NCBI BioSystems Database, 55R&D Systems, 62Tocris Bioscience
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Pathways related to Atypical Mycobacteriosis, Familial according to GeneCards/GeneDecks:

(show all 41)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5IFNGR1, IFNGR2
29.5IFNGR1, IFNGR2
3
Show member pathways
Immune response CD16 signaling in NK cells61
9.5IFNGR1, IFNGR2
4
Show member pathways
9.3IL12RB1, IKBKG
5
Show member pathways
Immune response IL 22 signaling pathway61
G protein signaling N RAS regulation pathway61
9.1IL12RB1, STAT1
6
Show member pathways
Immune response IL 12 induced IFN gamma production61
9.1IL12RB1, STAT1
7
Show member pathways
9.1IL12RB1, STAT1
8
Show member pathways
9.0STAT1, IKBKG
99.0STAT1, IKBKG
10
Show member pathways
9.0IKBKG, STAT1
11
Show member pathways
Alternative NF-kappaB pathway39
9.0IKBKG, STAT1
12
Show member pathways
9.0IKBKG, STAT1
13
Show member pathways
Development ERBB family signaling61
Development GDNF family signaling61
9.0IKBKG, STAT1
149.0STAT1, IKBKG
15
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways61
Immune response IL 1 signaling pathway61
9.0IKBKG, STAT1
16
Show member pathways
Prolactin Signaling Pathway39
Development Prolactin receptor signaling61
Leptin signaling pathway39
9.0IKBKG, STAT1
179.0IKBKG, STAT1
18
Show member pathways
9.0STAT1, IKBKG
19
Show member pathways
9.0IL12RB1, IFNGR1, IFNGR2
20
Show member pathways
8.9IKBKG, IFNGR2, IFNGR1
21
Show member pathways
8.9IKBKG, IFNGR2, IFNGR1
228.7STAT1, IFNGR2, IFNGR1
23
Show member pathways
IFN-gamma pathway39
8.7IFNGR1, IFNGR2, STAT1
248.7IFNGR1, IFNGR2, STAT1
258.7IFNGR1, IFNGR2, STAT1
268.7IFNGR1, IFNGR2, STAT1
27
Show member pathways
8.6IFNGR1, IKBKG, STAT1
28
Show member pathways
8.5STAT1, IKBKG, IL12RB1
29
Show member pathways
IL23-mediated signaling events39
Immune response IL 10 signaling pathway61
Angiopoietin receptor Tie2-mediated signaling39
Development PDGF signaling via STATs and NF kB61
Development Angiopoietin Tie2 signaling61
8.5STAT1, IKBKG, IL12RB1
30
Show member pathways
8.4IL12RB1, IFNGR1, IFNGR2, IKBKG
31
Show member pathways
IL27-mediated signaling events39
8.2STAT1, IFNGR2, IFNGR1, IL12RB1
32
Show member pathways
Type III interferon signaling39
8.2STAT1, IFNGR2, IFNGR1, IL12RB1
338.1IFNGR1, IFNGR2, IKBKG, STAT1
34
Show member pathways
Immune response MIF in innate immunity response61
8.1STAT1, IKBKG, IFNGR2, IFNGR1
35
Show member pathways
Transcription NF kB signaling pathway61
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response61
8.1IFNGR1, IFNGR2, IKBKG, STAT1
36
Show member pathways
8.1STAT1, IKBKG, IFNGR2, IFNGR1
37
Show member pathways
8.1STAT1, IKBKG, IFNGR2, IFNGR1
38
Show member pathways
8.1IFNGR1, IFNGR2, IKBKG, STAT1
39
Show member pathways
Toll-like receptor signaling pathway39
Regulation of toll-like receptor signaling pathway39
8.1IFNGR1, IFNGR2, IKBKG, STAT1
40
Show member pathways
7.5IL12RB1, IFNGR1, IFNGR2, IKBKG, STAT1
41
Show member pathways
7.5STAT1, IKBKG, IFNGR2, IFNGR1, IL12RB1

Compounds for genes affiliated with Atypical Mycobacteriosis, Familial

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46Novoseek, 12DrugBank
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Compounds related to Atypical Mycobacteriosis, Familial according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1deferoxamine46 129.9IFNGR1, STAT1
2gp 130468.6IL12RB1, IFNGR1, STAT1
3tyrosine468.1IL12RB1, IFNGR1, IKBKG, STAT1

GO Terms for genes affiliated with Atypical Mycobacteriosis, Familial

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17Gene Ontology
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Biological processes related to Atypical Mycobacteriosis, Familial according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to virusGO:0096158.9IFNGR1, IFNGR2, IKBKG
2regulation of interferon-gamma-mediated signaling pathwayGO:0603348.7IFNGR1, IFNGR2, STAT1
3interferon-gamma-mediated signaling pathwayGO:0603338.4IFNGR1, IFNGR2, STAT1
4cytokine-mediated signaling pathwayGO:0192218.1STAT1, IFNGR2, IFNGR1, IL12RB1

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

idNameGO IDScoreTop Affiliating Genes
1interferon-gamma receptor activityGO:0049069.5IFNGR1, 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet