MSMD
MCID: ATY012
MIFTS: 19

Atypical Mycobacteriosis, Familial (MSMD) 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 48 12
Atypical Mycobacterial Infection, Disseminated 48 27
Idiopathic Infection Caused by Bcg or Atypical Mycobacteria 48
Atypical Mycobacterial Infection, Familial Disseminated 48
Mendelian Susceptibility to Mycobacterial Infections 48
 
Mendelian Susceptibility to Mycobacterial Diseases 48
Mycobacterial Disease, Mendelian Susceptibility to 48
Mendelian Susceptibility to Atypical Mycobacteria 48
Msmd 48

Classifications:



Summaries for Atypical Mycobacteriosis, Familial

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NIH Rare Diseases:48 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 x-linked mendelian susceptibility to mycobacterial diseases and autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency. Affiliated tissues include lymph node.

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 & Phenotypes 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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Genetic tests related to Atypical Mycobacteriosis, Familial:

id Genetic test Affiliating Genes
1 Disseminated Atypical Mycobacterial Infection27

Anatomical Context for Atypical Mycobacteriosis, Familial

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MalaCards organs/tissues related to Atypical Mycobacteriosis, Familial:

36
Lymph node

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet