MCID: IMM099
MIFTS: 15

Immunodeficiency 33 malady

Genetic diseases (common), Immune diseases categories

Aliases & Classifications for Immunodeficiency 33

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Aliases & Descriptions for Immunodeficiency 33:

Name: Immunodeficiency 33 46
 
Familial Atypical Mycobacteriosis, X-Linked 1 20 22


Classifications:



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OMIM46 300636

Summaries for Immunodeficiency 33

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OMIM:46 IMD33 results from X-linked recessive NEMO deficiency, which is associated with various other diseases, including... (300636) more...

MalaCards based summary: Immunodeficiency 33, is also known as familial atypical mycobacteriosis, x-linked 1 An important gene associated with Immunodeficiency 33 is IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma). Affiliated tissues include monocytes and t cells.

Related Diseases for Immunodeficiency 33

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Symptoms for Immunodeficiency 33

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Clinical features from OMIM:

300636

Drugs & Therapeutics for Immunodeficiency 33

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Drug clinical trials:

Search ClinicalTrials for Immunodeficiency 33

Search NIH Clinical Center for Immunodeficiency 33

Genetic Tests for Immunodeficiency 33

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Genetic tests related to Immunodeficiency 33:

id Genetic test Affiliating Genes
1 Familial Atypical Mycobacteriosis, X-Linked 120 IKBKG
2 X-Linked Familial Atypical Mycobacteriosis, Type 122

Anatomical Context for Immunodeficiency 33

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MalaCards organs/tissues related to Immunodeficiency 33:

31
Monocytes, T cells

Animal Models for Immunodeficiency 33 or affiliated genes

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Publications for Immunodeficiency 33

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Variations for Immunodeficiency 33

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UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 33:

63
id Symbol AA change Variation ID SNP ID
1IKBKGp.Glu315AlaVAR_031959
2IKBKGp.Arg319GlnVAR_031960

Expression for genes affiliated with Immunodeficiency 33

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Search GEO for disease gene expression data for Immunodeficiency 33.

Pathways for genes affiliated with Immunodeficiency 33

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Compounds for genes affiliated with Immunodeficiency 33

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GO Terms for genes affiliated with Immunodeficiency 33

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Sources for Immunodeficiency 33

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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