MCID: ATY012
MIFTS: 16

Atypical Mycobacteriosis, Familial malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Atypical Mycobacteriosis, Familial

About this section

Aliases & Descriptions for Atypical Mycobacteriosis, Familial:

Name: Atypical Mycobacteriosis, Familial 45 65
Atypical Mycobacterial Infection, Disseminated 45 24
Atypical Mycobacterial Infection, Familial Disseminated 45
 
Mycobacterial Disease, Mendelian Susceptibility to 45
Msmd 45


Classifications:



Summaries for Atypical Mycobacteriosis, Familial

About this section
MalaCards based summary: Atypical Mycobacteriosis, Familial, also known as atypical mycobacterial infection, disseminated, is related to immunodeficiency 34, mycobacteriosis, x-linked and immunodeficiency 33. An important gene associated with Atypical Mycobacteriosis, Familial is IFNGR1 (Interferon Gamma Receptor 1). Affiliated tissues include lung.

Related Diseases for Atypical Mycobacteriosis, Familial

About this section

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
1immunodeficiency 34, mycobacteriosis, x-linked10.4
2immunodeficiency 3310.4
3mendelian susceptibility to mycobacterial diseases due to complete ifngammar2 deficiency10.2
4autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency10.2
5mendelian susceptibility to mycobacterial diseases due to partial stat1 deficiency10.2
6autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency10.2
7autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency10.2
8autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency10.2
9mendelian susceptibility to mycobacterial diseases due to complete il12rb1 deficiency10.2
10mendelian susceptibility to mycobacterial diseases due to complete il12b deficiency10.2
11x-linked mendelian susceptibility to mycobacterial diseases due to ikbkg deficiency10.2
12mendelian susceptibility to mycobacterial diseases due to partial irf8 deficiency10.2
13mendelian susceptibility to mycobacterial diseases due to complete ifngammar1 deficiency10.2
14hyper-ige recurrent infection syndrome, autosomal recessive10.0
15mendelian susceptibility to mycobacterial diseases due to complete isg15 deficiency10.0
16x-linked mendelian susceptibility to mycobacterial diseases due to cybb deficiency10.0
17x-linked mendelian susceptibility to mycobacterial diseases10.0

Graphical network of diseases related to Atypical Mycobacteriosis, Familial:



Diseases related to atypical mycobacteriosis, familial

Symptoms for Atypical Mycobacteriosis, Familial

About this section

Drugs & Therapeutics for Atypical Mycobacteriosis, Familial

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung DiseaseCompletedNCT00368446
2Study of Mycobacterial InfectionsRecruitingNCT00018044
3Study of Nontuberculous Mycobacterial Lung DiseaseRecruitingNCT00970801

Search NIH Clinical Center for Atypical Mycobacteriosis, Familial

Genetic Tests for Atypical Mycobacteriosis, Familial

About this section

Genetic tests related to Atypical Mycobacteriosis, Familial:

id Genetic test Affiliating Genes
1 Disseminated Atypical Mycobacterial Infection24

Anatomical Context for Atypical Mycobacteriosis, Familial

About this section

MalaCards organs/tissues related to Atypical Mycobacteriosis, Familial:

33
Lung

Animal Models for Atypical Mycobacteriosis, Familial or affiliated genes

About this section

Publications for Atypical Mycobacteriosis, Familial

About this section

Variations for Atypical Mycobacteriosis, Familial

About this section

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

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

Pathways for genes affiliated with Atypical Mycobacteriosis, Familial

About this section

GO Terms for genes affiliated with Atypical Mycobacteriosis, Familial

About this section

Sources for Atypical Mycobacteriosis, Familial

About this section
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