MCID: IMM098
MIFTS: 18

Immunodeficiency 34, Mycobacteriosis, X-Linked malady

Categories: Genetic diseases (common), Immune diseases

Aliases & Classifications for Immunodeficiency 34, Mycobacteriosis, X-Linked

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Aliases & Descriptions for Immunodeficiency 34, Mycobacteriosis, X-Linked:

Name: Immunodeficiency 34, Mycobacteriosis, X-Linked 49
Familial, X-Linked, Atypical Mycobacteriosis 2 67 24
Atypical Mycobacteriosis, Familial, X-Linked 2 11 65
Familial Disseminated Atypical Mycobacterial Infection X-Linked 2 67
Mendelian Susceptibility to Mycobacterial Disease X-Linked 2 67
 
X-Linked Immunodeficiency 34, Mycobacteriosis 67
Immunodeficiency 34 67
Amcbx2 67
Imd34 67

Characteristics:

HPO:

61
immunodeficiency 34, mycobacteriosis, x-linked:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM49 300645
MedGen34 C1970859
MeSH36 D007153
UMLS65 C1970859

Summaries for Immunodeficiency 34, Mycobacteriosis, X-Linked

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UniProtKB/Swiss-Prot:67 Immunodeficiency 34: A form of Mendelian susceptibility to mycobacterial disease, a rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette- Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals.

MalaCards based summary: Immunodeficiency 34, Mycobacteriosis, X-Linked, is also known as familial, x-linked, atypical mycobacteriosis 2, and has symptoms including recurrent mycobacterial infectionsand severe recurrent varicella. An important gene associated with Immunodeficiency 34, Mycobacteriosis, X-Linked is CYBB (Cytochrome B-245, Beta Polypeptide).

OMIM:49 IMD34 results in predisposition to infections by poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG)... (300645) more...

Related Diseases for Immunodeficiency 34, Mycobacteriosis, X-Linked

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Symptoms for Immunodeficiency 34, Mycobacteriosis, X-Linked

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Symptoms by clinical synopsis from OMIM:

300645

Clinical features from OMIM:

300645

HPO human phenotypes related to Immunodeficiency 34, Mycobacteriosis, X-Linked:

id Description Frequency HPO Source Accession
1 recurrent mycobacterial infections HP:0011274
2 severe recurrent varicella HP:0005428

Drugs & Therapeutics for Immunodeficiency 34, Mycobacteriosis, X-Linked

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Immunodeficiency 34, Mycobacteriosis, X-Linked

Genetic Tests for Immunodeficiency 34, Mycobacteriosis, X-Linked

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Anatomical Context for Immunodeficiency 34, Mycobacteriosis, X-Linked

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Animal Models for Immunodeficiency 34, Mycobacteriosis, X-Linked or affiliated genes

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Publications for Immunodeficiency 34, Mycobacteriosis, X-Linked

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Variations for Immunodeficiency 34, Mycobacteriosis, X-Linked

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UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 34, Mycobacteriosis, X-Linked:

67
id Symbol AA change Variation ID SNP ID
1CYBBp.Thr178ProVAR_065365rs151344497
2CYBBp.Gln231ProVAR_065366rs151344498

Clinvar genetic disease variations for Immunodeficiency 34, Mycobacteriosis, X-Linked:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CYBBNM_000397.3(CYBB): c.692A> C (p.Gln231Pro)single nucleotide variantPathogenicrs151344498GRCh37Chr X, 37658225: 37658225
2CYBBNM_000397.3(CYBB): c.532A> C (p.Thr178Pro)single nucleotide variantPathogenicrs151344497GRCh37Chr X, 37655252: 37655252

Expression for genes affiliated with Immunodeficiency 34, Mycobacteriosis, X-Linked

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Search GEO for disease gene expression data for Immunodeficiency 34, Mycobacteriosis, X-Linked.

Pathways for genes affiliated with Immunodeficiency 34, Mycobacteriosis, X-Linked

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GO Terms for genes affiliated with Immunodeficiency 34, Mycobacteriosis, X-Linked

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Sources for Immunodeficiency 34, Mycobacteriosis, X-Linked

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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