MCID: ATY012
MIFTS: 16

Atypical Mycobacteriosis, Familial malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Atypical Mycobacteriosis, Familial

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Aliases & Descriptions for Atypical Mycobacteriosis, Familial:

Name: Atypical Mycobacteriosis, Familial 45
Atypical Mycobacterial Infection, Disseminated 45 24
Idiopathic Infection Caused by Bcg or Atypical Mycobacteria 45
Atypical Mycobacterial Infection, Familial Disseminated 45
Mendelian Susceptibility to Mycobacterial Infections 45
 
Mycobacterial Disease, Mendelian Susceptibility to 45
Mendelian Susceptibility to Mycobacterial Diseases 45
Mendelian Susceptibility to Atypical Mycobacteria 45
Msmd 45

Classifications:



Summaries for Atypical Mycobacteriosis, Familial

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NIH Rare Diseases:45 Mendelian susceptibility to mycobacterial diseases (msmd) is a rare immunodeficiency syndrome, with susceptibility to mycobacteria, such as the vaccine against tuberculosis (bacillus calmette-guérin (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 isg15 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.  last updated: 3/31/2016

MalaCards based summary: Atypical Mycobacteriosis, Familial, also known as atypical mycobacterial infection, disseminated, is related to mendelian susceptibility to mycobacterial diseases due to complete ifngammar2 deficiency and autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency. An important gene associated with Atypical Mycobacteriosis, Familial is IFNGR1 (Interferon Gamma Receptor 1). Affiliated tissues include lymph node, lung and bone.

Related Diseases for Atypical Mycobacteriosis, Familial

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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, Stat1-Related Familial Atypical Mycobacteriosis, Tyk2-Related

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

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1mendelian susceptibility to mycobacterial diseases due to complete ifngammar2 deficiency12.3
2autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency12.3
3mendelian susceptibility to mycobacterial diseases due to partial stat1 deficiency12.3
4autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency12.3
5autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency12.3
6autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency12.3
7mendelian susceptibility to mycobacterial diseases due to complete il12b deficiency12.3
8mendelian susceptibility to mycobacterial diseases due to partial irf8 deficiency12.3
9mendelian susceptibility to mycobacterial diseases due to complete ifngammar1 deficiency12.3
10mendelian susceptibility to mycobacterial diseases due to complete isg15 deficiency12.3
11x-linked mendelian susceptibility to mycobacterial diseases due to cybb deficiency12.3
12x-linked mendelian susceptibility to mycobacterial diseases12.3
13immunodeficiency 34, mycobacteriosis, x-linked11.3
14immunodeficiency 27a, mycobacteriosis, ar11.1
15immunodeficiency 3311.1
16nf-kappa b essential modulator deficiency11.1
17immunodeficiency 3011.1

Graphical network of diseases related to Atypical Mycobacteriosis, Familial:



Diseases related to atypical mycobacteriosis, familial

Symptoms for Atypical Mycobacteriosis, Familial

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Drugs & Therapeutics for Atypical Mycobacteriosis, Familial

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency DiseasesRecruitingNCT01852370Phase 1, Phase 2
2Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung DiseaseCompletedNCT00368446
3Study of Mycobacterial InfectionsRecruitingNCT00018044
4Study of Nontuberculous Mycobacterial Lung DiseaseRecruitingNCT00970801

Search NIH Clinical Center for Atypical Mycobacteriosis, Familial

Genetic Tests for Atypical Mycobacteriosis, Familial

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Anatomical Context for Atypical Mycobacteriosis, Familial

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MalaCards organs/tissues related to Atypical Mycobacteriosis, Familial:

33
Lymph node, Lung, Bone, Bone marrow

Animal Models for Atypical Mycobacteriosis, Familial or affiliated genes

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Publications for Atypical Mycobacteriosis, Familial

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Variations for Atypical Mycobacteriosis, Familial

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Clinvar genetic disease variations for Atypical Mycobacteriosis, Familial:

5
id Gene Variation Type Significance SNP ID Assembly Location
1IFNGR1NM_000416.2(IFNGR1): c.260T> C (p.Ile87Thr)single nucleotide variantPathogenic, risk factorrs104893973GRCh37Chr 6, 137527386: 137527386

Expression for genes affiliated with Atypical Mycobacteriosis, Familial

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

Pathways for genes affiliated with Atypical Mycobacteriosis, Familial

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GO Terms for genes affiliated with Atypical Mycobacteriosis, Familial

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Sources for Atypical Mycobacteriosis, Familial

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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