IMD34
MCID: IMM098
MIFTS: 20

Immunodeficiency 34, Mycobacteriosis, X-Linked (IMD34) malady

Categories: Genetic diseases, Blood diseases, Rare diseases, 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 52
Atypical Mycobacteriosis, Familial, X-Linked 2 12 68
Familial, X-Linked, Atypical Mycobacteriosis 2 70 27
Immunodeficiency 34 52 70
X-Linked Mendelian Susceptibility to Mycobacterial Diseases Due to Cybb Deficiency 54
Familial Disseminated Atypical Mycobacterial Infection X-Linked 2 70
 
Mendelian Susceptibility to Mycobacterial Disease X-Linked 2 70
X-Linked Immunodeficiency 34, Mycobacteriosis 70
X-Linked Msmd Due to Cybb Deficiency 54
Amcbx2 70
Imd34 70

Characteristics:

HPO:

64
immunodeficiency 34, mycobacteriosis, x-linked:
Inheritance: x-linked recessive inheritance

Classifications:



External Ids:

OMIM52 300645
Orphanet54 ORPHA319623
ICD10 via Orphanet31 D84.8
MedGen37 C1970859
MeSH39 D007153

Summaries for Immunodeficiency 34, Mycobacteriosis, X-Linked

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UniProtKB/Swiss-Prot:70 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, also known as atypical mycobacteriosis, familial, x-linked 2, is related to familial atypical mycobacteriosis, x-linked, cybb-related, and has symptoms including severe recurrent varicella and recurrent mycobacterial infections. An important gene associated with Immunodeficiency 34, Mycobacteriosis, X-Linked is CYBB (Cytochrome B-245 Beta Chain).

OMIM:52 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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Diseases related to Immunodeficiency 34, Mycobacteriosis, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1familial atypical mycobacteriosis, x-linked, cybb-related11.3

Symptoms & Phenotypes for Immunodeficiency 34, Mycobacteriosis, X-Linked

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Symptoms by clinical synopsis from OMIM:

300645

Clinical features from OMIM:

300645

Human phenotypes related to Immunodeficiency 34, Mycobacteriosis, X-Linked:

 64
id Description HPO Frequency HPO Source Accession
1 severe recurrent varicella64 HP:0005428
2 recurrent mycobacterial infections64 HP:0011274

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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Genetic tests related to Immunodeficiency 34, Mycobacteriosis, X-Linked:

id Genetic test Affiliating Genes
1 Atypical Mycobacteriosis, Familial, X-Linked 227

Anatomical Context for Immunodeficiency 34, Mycobacteriosis, X-Linked

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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:

70
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)SNVPathogenicrs151344498GRCh37Chr X, 37658225: 37658225
2CYBBNM_ 000397.3(CYBB): c.532A> C (p.Thr178Pro)SNVPathogenicrs151344497GRCh37Chr 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
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