MSMD
MCID: ATY012
MIFTS: 35

Atypical Mycobacteriosis, Familial (MSMD) malady

Blood, Genetic categories

Summaries for Atypical Mycobacteriosis, Familial

Sources:
47OMIM, 33MalaCards
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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:47 300636,300645,209950

Aliases & Classifications for Atypical Mycobacteriosis, Familial

Sources:
43NIH Rare Diseases, 47OMIM, 22GTR, 61UMLS, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
x-linked mendelian susceptibility to mycobacterial diseases:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of death: Normal


Aliases & Descriptions:

atypical mycobacteriosis, familial 43 47
atypical mycobacterial infection, disseminated 43 22 61
x-linked mendelian susceptibility to mycobacterial diseases due to ikbkg deficiency 49
x-linked mendelian susceptibility to mycobacterial diseases due to nemo deficiency 49
x-linked mendelian susceptibility to mycobacterial diseases 49
mycobacterial infection, atypical, familial disseminated 47
atypical mycobacterial infection, familial disseminated 43
mycobacterial disease, mendelian susceptibility to 43
x-linked msmd due to ikbkg deficiency 49
x-linked msmd due to nemo deficiency 49
x-linked msmd 49
msmd 43


External Ids:

ICD10 via Orphanet26 D84.8

Related Diseases for Atypical Mycobacteriosis, Familial

Sources:
17GeneCards, 18GeneDecks
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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
10mycobacterial and viral infections autosomal recessive10.1
11autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 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
23hyper-ige recurrent infection syndrome, autosomal recessive10.0
24asthma10.0IFNGR2, STAT1
25t-cell leukemia10.0IKBKG, STAT1
26multiple sclerosis10.0STAT1, IFNGR1
27allergic asthma10.0IFNGR2, IFNGR1, STAT1
28sarcoidosis10.0STAT1, IFNGR1, IFNGR2
29tuberculosis10.0IFNGR2, IFNGR1, STAT1
30ipex syndrome10.0IKBKG, STAT1, IFNGR1

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



Diseases related to atypical mycobacteriosis, familial

Clinical Features for Atypical Mycobacteriosis, Familial

Sources:
47OMIM
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Clinical features from OMIM:

300636,300645,209950

Clinical synopsis from OMIM:

209950

Drugs & Therapeutics for Atypical Mycobacteriosis, Familial

Sources:
5CenterWatch, 42NIH 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

Sources:
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

Animal Models for Atypical Mycobacteriosis, Familial or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Atypical Mycobacteriosis, Familial

Genetic Variations for Atypical Mycobacteriosis, Familial

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Atypical Mycobacteriosis, Familial:

63 (show all 11)
id Symbol AA change Variation SNP ID
1IFNGR1p.Cys77TyrVAR_017577
2IFNGR1p.Ile87ThrVAR_017578
3IFNGR2p.Thr168AsnVAR_023281
4IKBKGp.Glu315AlaVAR_031959
5IKBKGp.Arg319GlnVAR_031960
6p.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

Sources:
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

Sources:
30KEGG, 54Reactome, 52QIAGEN, 38NCBI BioSystems Database, 60Tocris Bioscience, 12EMD Millipore, 53R&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
Hide members
9.3IKBKG, STAT1
49.3STAT1, IKBKG
5
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9.3IKBKG, STAT1
6
Development PDGF signaling via STATs and NF-kB
Hide members
9.3STAT1, IKBKG
79.3STAT1, IKBKG
89.3IKBKG, STAT1
99.3STAT1, IKBKG
10
Hide members
9.3IKBKG, STAT1
11
Development Prolactin receptor signaling
Hide members
9.3IKBKG, STAT1
129.1IFNGR1, IFNGR2
13
Hide members
9.1IFNGR2, IFNGR1
149.1IFNGR2, IFNGR1
159.1IFNGR2, IFNGR1
16
Hide members
9.1IFNGR1, IFNGR2
17
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9.0IFNGR1, STAT1
18
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8.6IFNGR2, IKBKG, IFNGR1
19
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8.6IFNGR2, IKBKG, IFNGR1
20
Immune response IFN gamma signaling pathway
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8.5STAT1, IFNGR1, IFNGR2
21
Hide members
8.5STAT1, IFNGR1, IFNGR2
228.5STAT1, IFNGR1, IFNGR2
238.5IFNGR2, IFNGR1, STAT1
248.5IFNGR1, STAT1, IFNGR2
258.5IFNGR1, STAT1, IFNGR2
268.5STAT1, IFNGR1, IFNGR2
278.5IFNGR2, IFNGR1, STAT1
28
Hide members
8.0IFNGR2, STAT1, IKBKG, IFNGR1
29
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8.0IKBKG, STAT1, IFNGR1, IFNGR2
30
Hide members
8.0IFNGR2, IKBKG, STAT1, IFNGR1
31
Hide members
8.0IKBKG, IFNGR1, IFNGR2, STAT1
32
Hide members
8.0IFNGR2, IKBKG, STAT1, IFNGR1
33
Hide members
8.0IKBKG, IFNGR1, STAT1, IFNGR2
34
Immune response Bacterial infections in normal airways
8.0IKBKG, IFNGR2, STAT1, IFNGR1
35
Hide members
8.0STAT1, IFNGR2, IKBKG, IFNGR1
368.0STAT1, IFNGR2, IFNGR1, IKBKG

Compounds for genes affiliated with Atypical Mycobacteriosis, Familial

Sources:
11DrugBank, 45Novoseek
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Compounds related to Atypical Mycobacteriosis, Familial according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Interferon gamma-1b119.0IFNGR1, IFNGR2
2gp 130459.0STAT1, IFNGR1
3deferoxamine45 119.7STAT1, IFNGR1

GO Terms for genes affiliated with Atypical Mycobacteriosis, Familial

Sources:
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:0603348.5IFNGR2, IFNGR1, STAT1
2cytokine-mediated signaling pathwayGO:0192218.5IFNGR2, IFNGR1, STAT1
3interferon-gamma-mediated signaling pathwayGO:0603338.4IFNGR2, IFNGR1, STAT1
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Atypical Mycobacteriosis, Familial

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet