MCID: ATY012
MIFTS: 19

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 46 12
Atypical Mycobacterial Infection, Disseminated 46 25
Idiopathic Infection Caused by Bcg or Atypical Mycobacteria 46
Atypical Mycobacterial Infection, Familial Disseminated 46
Mendelian Susceptibility to Mycobacterial Infections 46
 
Mendelian Susceptibility to Mycobacterial Diseases 46
Mycobacterial Disease, Mendelian Susceptibility to 46
Mendelian Susceptibility to Atypical Mycobacteria 46
Msmd 46

Classifications:



Summaries for Atypical Mycobacteriosis, Familial

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NIH Rare Diseases:46 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 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency and x-linked mendelian susceptibility to mycobacterial diseases. Affiliated tissues include lymph node, lung and bone.

Related Diseases for Atypical Mycobacteriosis, Familial

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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

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Genetic Tests for Atypical Mycobacteriosis, Familial

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Genetic tests related to Atypical Mycobacteriosis, Familial:

id Genetic test Affiliating Genes
1 Disseminated Atypical Mycobacterial Infection25

Anatomical Context for Atypical Mycobacteriosis, Familial

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MalaCards organs/tissues related to Atypical Mycobacteriosis, Familial:

34
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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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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet