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

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

Name: Immunodeficiency 34, Mycobacteriosis, X-Linked 54
Familial, X-Linked, Atypical Mycobacteriosis 2 66 29
Atypical Mycobacteriosis, Familial, X-Linked 2 13 69
Immunodeficiency 34 54 66
X-Linked Mendelian Susceptibility to Mycobacterial Diseases Due to Cybb Deficiency 56
Familial Disseminated Atypical Mycobacterial Infection X-Linked 2 66
Mendelian Susceptibility to Mycobacterial Disease X-Linked 2 66
X-Linked Immunodeficiency 34, Mycobacteriosis 66
X-Linked Msmd Due to Cybb Deficiency 56
Amcbx2 66
Imd34 66

Characteristics:

HPO:

32
immunodeficiency 34, mycobacteriosis, x-linked:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

OMIM 54 300645
Orphanet 56 ORPHA319623
ICD10 via Orphanet 34 D84.8
MedGen 40 C1970859
MeSH 42 D007153

Summaries for Immunodeficiency 34, Mycobacteriosis, X-Linked

UniProtKB/Swiss-Prot : 66 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 familial, x-linked, atypical mycobacteriosis 2, is related to familial atypical mycobacteriosis, x-linked, cybb-related, and has symptoms including recurrent mycobacterial infections and severe recurrent varicella. An important gene associated with Immunodeficiency 34, Mycobacteriosis, X-Linked is CYBB (Cytochrome B-245 Beta Chain).

OMIM : 54 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

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

id Related Disease Score Top Affiliating Genes
1 familial atypical mycobacteriosis, x-linked, cybb-related 11.3

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

Symptoms by clinical synopsis from OMIM:

300645

Clinical features from OMIM:

300645

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

32
id Description HPO Frequency HPO Source Accession
1 recurrent mycobacterial infections 32 HP:0011274
2 severe recurrent varicella 32 HP:0005428

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

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

Genetic Tests for Immunodeficiency 34, Mycobacteriosis, X-Linked

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

id Genetic test Affiliating Genes
1 Atypical Mycobacteriosis, Familial, X-Linked 2 29

Anatomical Context for Immunodeficiency 34, Mycobacteriosis, X-Linked

Publications for Immunodeficiency 34, Mycobacteriosis, X-Linked

Variations for Immunodeficiency 34, Mycobacteriosis, X-Linked

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

66
id Symbol AA change Variation ID SNP ID
1 CYBB p.Thr178Pro VAR_065365 rs151344497
2 CYBB p.Gln231Pro VAR_065366 rs151344498

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CYBB NM_000397.3(CYBB): c.692A> C (p.Gln231Pro) single nucleotide variant Pathogenic rs151344498 GRCh37 Chromosome X, 37658225: 37658225
2 CYBB NM_000397.3(CYBB): c.532A> C (p.Thr178Pro) single nucleotide variant Pathogenic rs151344497 GRCh37 Chromosome X, 37655252: 37655252

Expression for Immunodeficiency 34, Mycobacteriosis, X-Linked

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

Pathways for Immunodeficiency 34, Mycobacteriosis, X-Linked

GO Terms for Immunodeficiency 34, Mycobacteriosis, X-Linked

Sources for Immunodeficiency 34, Mycobacteriosis, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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