MCID: ATY012
MIFTS: 20

Atypical Mycobacteriosis, Familial

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Atypical Mycobacteriosis, Familial

MalaCards integrated aliases for Atypical Mycobacteriosis, Familial:

Name: Atypical Mycobacteriosis, Familial 53 13
Atypical Mycobacterial Infection, Disseminated 53 73
Disseminated Atypical Mycobacterial Infection 29 6
Idiopathic Infection Caused by Bcg or Atypical Mycobacteria 53
Atypical Mycobacterial Infection, Familial Disseminated 53
Mendelian Susceptibility to Mycobacterial Infections 53
Mycobacterial Disease, Mendelian Susceptibility to 53
Mendelian Susceptibility to Mycobacterial Diseases 53
Mendelian Susceptibility to Atypical Mycobacteria 53
Msmd 53

Classifications:



External Ids:

UMLS 73 C0694566

Summaries for Atypical Mycobacteriosis, Familial

NIH Rare Diseases : 53 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. 

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. An important gene associated with Atypical Mycobacteriosis, Familial is IFNGR1 (Interferon Gamma Receptor 1), and among its related pathways/superpathways are Toll-like Receptor Signaling Pathway and Toxoplasmosis. Affiliated tissues include lymph node, and related phenotype is neoplasm.

Related Diseases for Atypical Mycobacteriosis, Familial

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

# Related Disease Score Top Affiliating Genes
1 x-linked mendelian susceptibility to mycobacterial diseases 12.5
2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency 12.4
3 immunodeficiency 30 11.7
4 immunodeficiency 34 11.5
5 immunodeficiency 33 11.4
6 nf-kappa b essential modulator deficiency 11.1
7 immunodeficiency 27a 11.1
8 immunodeficiency 28 11.1
9 immunodeficiency 32a 10.9

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



Diseases related to Atypical Mycobacteriosis, Familial

Symptoms & Phenotypes for Atypical Mycobacteriosis, Familial

MGI Mouse Phenotypes related to Atypical Mycobacteriosis, Familial:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 CYBB IFNGR1

Drugs & Therapeutics for Atypical Mycobacteriosis, Familial

Search Clinical Trials , NIH Clinical Center for Atypical Mycobacteriosis, Familial

Genetic Tests for Atypical Mycobacteriosis, Familial

Genetic tests related to Atypical Mycobacteriosis, Familial:

# Genetic test Affiliating Genes
1 Disseminated Atypical Mycobacterial Infection 29 IFNGR1

Anatomical Context for Atypical Mycobacteriosis, Familial

MalaCards organs/tissues related to Atypical Mycobacteriosis, Familial:

41
Lymph Node

Publications for Atypical Mycobacteriosis, Familial

Articles related to Atypical Mycobacteriosis, Familial:

# Title Authors Year
1
The use of adjuvant granulocyte-macrophage colony-stimulating factor in HIV-related disseminated atypical mycobacterial infection. ( 17197031 )
2007
2
Evidence for exclusion of a mutation in NRAMP as the cause of familial disseminated atypical mycobacterial infection in a Maltese kindred. ( 8592339 )
1995

Variations for Atypical Mycobacteriosis, Familial

ClinVar genetic disease variations for Atypical Mycobacteriosis, Familial:

6
(show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 IFNGR1 NM_000416.2(IFNGR1): c.446C> A (p.Ser149Ter) single nucleotide variant Pathogenic rs387906572 GRCh37 Chromosome 6, 137525569: 137525569
2 IFNGR1 NM_000416.2(IFNGR1): c.446C> A (p.Ser149Ter) single nucleotide variant Pathogenic rs387906572 GRCh38 Chromosome 6, 137204432: 137204432
3 IFNGR1 NM_000416.2(IFNGR1): c.131delC (p.Pro44Leufs) deletion Pathogenic rs587776853 GRCh38 Chromosome 6, 137207032: 137207032
4 IFNGR1 NM_000416.2(IFNGR1): c.131delC (p.Pro44Leufs) deletion Pathogenic rs587776853 GRCh37 Chromosome 6, 137528169: 137528169
5 IFNGR1 NM_000416.2(IFNGR1): c.260T> C (p.Ile87Thr) single nucleotide variant Pathogenic,risk factor rs104893973 GRCh37 Chromosome 6, 137527386: 137527386
6 IFNGR1 NM_000416.2(IFNGR1): c.260T> C (p.Ile87Thr) single nucleotide variant Pathogenic,risk factor rs104893973 GRCh38 Chromosome 6, 137206249: 137206249
7 IFNGR1 NM_000416.2(IFNGR1): c.104_107dupTTAC (p.Ile37Tyrfs) duplication Pathogenic rs587776854 GRCh38 Chromosome 6, 137207056: 137207059
8 IFNGR1 NM_000416.2(IFNGR1): c.104_107dupTTAC (p.Ile37Tyrfs) duplication Pathogenic rs587776854 GRCh37 Chromosome 6, 137528193: 137528196
9 IFNGR1 NM_000416.2(IFNGR1): c.200+1G> A single nucleotide variant Pathogenic rs587776855 GRCh38 Chromosome 6, 137206962: 137206962
10 IFNGR1 NM_000416.2(IFNGR1): c.200+1G> A single nucleotide variant Pathogenic rs587776855 GRCh37 Chromosome 6, 137528099: 137528099
11 IFNGR1 NM_000416.2(IFNGR1): c.295_306delTGGGTCAGAGTT (p.Trp99_Val102del) deletion Pathogenic rs587776857 GRCh38 Chromosome 6, 137206203: 137206214
12 IFNGR1 NM_000416.2(IFNGR1): c.295_306delTGGGTCAGAGTT (p.Trp99_Val102del) deletion Pathogenic rs587776857 GRCh37 Chromosome 6, 137527340: 137527351
13 IFNGR1 NM_000416.2(IFNGR1): c.230G> A (p.Cys77Tyr) single nucleotide variant Pathogenic rs104893974 GRCh37 Chromosome 6, 137527416: 137527416
14 IFNGR1 NM_000416.2(IFNGR1): c.230G> A (p.Cys77Tyr) single nucleotide variant Pathogenic rs104893974 GRCh38 Chromosome 6, 137206279: 137206279
15 IFNGR1 NM_000416.2(IFNGR1): c.182T> A (p.Val61Glu) single nucleotide variant Pathogenic rs121912715 GRCh37 Chromosome 6, 137528118: 137528118
16 IFNGR1 NM_000416.2(IFNGR1): c.182T> A (p.Val61Glu) single nucleotide variant Pathogenic rs121912715 GRCh38 Chromosome 6, 137206981: 137206981
17 IFNGR1 NM_000416.2(IFNGR1): c.653_655delAAG (p.Glu218del) deletion Pathogenic rs587776858 GRCh38 Chromosome 6, 137203577: 137203579
18 IFNGR1 NM_000416.2(IFNGR1): c.653_655delAAG (p.Glu218del) deletion Pathogenic rs587776858 GRCh37 Chromosome 6, 137524714: 137524716
19 IFNGR1 NM_000416.2(IFNGR1): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs387906593 GRCh37 Chromosome 6, 137540463: 137540463
20 IFNGR1 NM_000416.2(IFNGR1): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs387906593 GRCh38 Chromosome 6, 137219326: 137219326
21 IFNGR1 NM_000416.2(IFNGR1): c.523delT (p.Tyr175Metfs) deletion Pathogenic rs749956849 GRCh37 Chromosome 6, 137525492: 137525492
22 IFNGR1 NM_000416.2(IFNGR1): c.523delT (p.Tyr175Metfs) deletion Pathogenic rs749956849 GRCh38 Chromosome 6, 137204355: 137204355
23 IFNGR1 NM_000416.2(IFNGR1): c.48G> A (p.Arg16=) single nucleotide variant Conflicting interpretations of pathogenicity rs11575931 GRCh37 Chromosome 6, 137540417: 137540417
24 IFNGR1 NM_000416.2(IFNGR1): c.48G> A (p.Arg16=) single nucleotide variant Conflicting interpretations of pathogenicity rs11575931 GRCh38 Chromosome 6, 137219280: 137219280
25 IL12RB1 NM_005535.2(IL12RB1): c.467G> A (p.Arg156His) single nucleotide variant Benign/Likely benign rs11575926 GRCh38 Chromosome 19, 18077598: 18077598
26 IL12RB1 NM_005535.2(IL12RB1): c.467G> A (p.Arg156His) single nucleotide variant Benign/Likely benign rs11575926 GRCh37 Chromosome 19, 18188408: 18188408
27 IL12RB1 NM_005535.2(IL12RB1): c.641A> G (p.Gln214Arg) single nucleotide variant Benign/Likely benign rs11575934 GRCh38 Chromosome 19, 18075808: 18075808
28 IL12RB1 NM_005535.2(IL12RB1): c.641A> G (p.Gln214Arg) single nucleotide variant Benign/Likely benign rs11575934 GRCh37 Chromosome 19, 18186618: 18186618
29 IL12RB1 NM_005535.2(IL12RB1): c.783+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs79972275 GRCh38 Chromosome 19, 18073507: 18073507
30 IL12RB1 NM_005535.2(IL12RB1): c.783+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs79972275 GRCh37 Chromosome 19, 18184317: 18184317
31 IFNGR1 NM_000416.2(IFNGR1): c.373+2T> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 137527271: 137527271
32 IFNGR1 NM_000416.2(IFNGR1): c.373+2T> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 137206134: 137206134
33 IFNGR1 NM_000416.2(IFNGR1): c.100A> G (p.Asn34Asp) single nucleotide variant Uncertain significance rs555180897 GRCh37 Chromosome 6, 137528200: 137528200
34 IFNGR1 NM_000416.2(IFNGR1): c.100A> G (p.Asn34Asp) single nucleotide variant Uncertain significance rs555180897 GRCh38 Chromosome 6, 137207063: 137207063
35 IL12RB1 NM_001290024.1(IL12RB1): c.1839C> T (p.Ala613=) single nucleotide variant Likely benign rs17885102 GRCh38 Chromosome 19, 18061194: 18061194
36 IL12RB1 NM_001290024.1(IL12RB1): c.1839C> T (p.Ala613=) single nucleotide variant Likely benign rs17885102 GRCh37 Chromosome 19, 18172004: 18172004
37 IFNGR2 NM_005534.3(IFNGR2): c.595T> C (p.Leu199=) single nucleotide variant Likely benign rs149173957 GRCh38 Chromosome 21, 33432210: 33432210
38 IFNGR2 NM_005534.3(IFNGR2): c.595T> C (p.Leu199=) single nucleotide variant Likely benign rs149173957 GRCh37 Chromosome 21, 34804517: 34804517
39 IFNGR1 NM_000416.2(IFNGR1): c.427A> T (p.Ile143Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 137204451: 137204451
40 IFNGR1 NM_000416.2(IFNGR1): c.427A> T (p.Ile143Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 137525588: 137525588
41 IFNGR1 NM_000416.2(IFNGR1): c.201-12_201-9delTATT deletion Likely benign GRCh38 Chromosome 6, 137206317: 137206320
42 IFNGR1 NM_000416.2(IFNGR1): c.201-12_201-9delTATT deletion Likely benign GRCh37 Chromosome 6, 137527454: 137527457
43 IFNGR1 NM_000416.2(IFNGR1): c.181G> A (p.Val61Ile) single nucleotide variant Benign rs17175322 GRCh38 Chromosome 6, 137206982: 137206982
44 IFNGR1 NM_000416.2(IFNGR1): c.181G> A (p.Val61Ile) single nucleotide variant Benign rs17175322 GRCh37 Chromosome 6, 137528119: 137528119
45 IFNGR1 NM_000416.2(IFNGR1): c.1341C> T (p.Thr447=) single nucleotide variant Benign rs41288979 GRCh37 Chromosome 6, 137519297: 137519297
46 IFNGR1 NM_000416.2(IFNGR1): c.1341C> T (p.Thr447=) single nucleotide variant Benign rs41288979 GRCh38 Chromosome 6, 137198160: 137198160
47 IFNGR1 NM_000416.2(IFNGR1): c.1236T> C (p.Phe412=) single nucleotide variant Likely benign rs144715018 GRCh37 Chromosome 6, 137519402: 137519402
48 IFNGR1 NM_000416.2(IFNGR1): c.1236T> C (p.Phe412=) single nucleotide variant Likely benign rs144715018 GRCh38 Chromosome 6, 137198265: 137198265
49 IFNGR1 NM_000416.2(IFNGR1): c.871G> T (p.Val291Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 137198630: 137198630
50 IFNGR1 NM_000416.2(IFNGR1): c.871G> T (p.Val291Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 137519767: 137519767

Expression for Atypical Mycobacteriosis, Familial

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

Pathways for Atypical Mycobacteriosis, Familial

Pathways related to Atypical Mycobacteriosis, Familial according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.17 CYBB IFNGR1
2
Show member pathways
11.53 CYBB IFNGR1
3
Show member pathways
11.39 CYBB IFNGR1
4 10.96 CYBB IFNGR1
5 10.19 CYBB IFNGR1

GO Terms for Atypical Mycobacteriosis, Familial

Sources for Atypical Mycobacteriosis, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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