MCID: IMM098
MIFTS: 16

Immunodeficiency 34, Mycobacteriosis, X-Linked malady

Genetic diseases (common), Immune diseases categories

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 46
Atypical Mycobacteriosis, Familial, X-Linked 2 9 22
 
Immunodeficiency 34 46


Classifications:



External Ids:

OMIM46 300645

Summaries for Immunodeficiency 34, Mycobacteriosis, X-Linked

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OMIM:46 IMD34 results in predisposition to infections by poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG)... (300645) more...

MalaCards based summary: Immunodeficiency 34, Mycobacteriosis, X-Linked, is also known as atypical mycobacteriosis, familial, x-linked 2, and has symptoms including x-linked recessive inheritance, severe recurrent varicella and recurrent mycobacterial infections. An important gene associated with Immunodeficiency 34, Mycobacteriosis, X-Linked is CYBB (cytochrome b-245, beta polypeptide).

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 x-linked recessive inheritance HP:0001419
2 severe recurrent varicella HP:0005428
3 recurrent mycobacterial infections HP:0011274

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

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Drug clinical trials:

Search ClinicalTrials for Immunodeficiency 34, Mycobacteriosis, X-Linked

Search 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 222

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:

63
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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet