MCID: IMM099
MIFTS: 15

Immunodeficiency 33 malady

Genetic diseases (common), Immune diseases categories

Summaries for Immunodeficiency 33

About this section


OMIM:45 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.

Aliases & Classifications for Immunodeficiency 33

About this section

Immunodeficiency 33, Aliases & Descriptions:

Name: Immunodeficiency 33 45
 
Familial Atypical Mycobacteriosis, X-Linked 1 20 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Immune diseases


External Ids:

OMIM45 300636

Related Diseases for Immunodeficiency 33

About this section

Symptoms for Immunodeficiency 33

About this section


Clinical features from OMIM:

300636

Drugs & Therapeutics for Immunodeficiency 33

About this section

Drug clinical trials:

Search ClinicalTrials for Immunodeficiency 33

Search NIH Clinical Center for Immunodeficiency 33

Genetic Tests for Immunodeficiency 33

About this section

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

About this section

MalaCards organs/tissues related to Immunodeficiency 33:

31
Monocytes, T cells

Animal Models for Immunodeficiency 33 or affiliated genes

About this section

Publications for Immunodeficiency 33

About this section

Variations for Immunodeficiency 33

About this section

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

62
id Symbol AA change Variation ID SNP ID
1IKBKGp.Glu315AlaVAR_031959
2IKBKGp.Arg319GlnVAR_031960

Expression for genes affiliated with Immunodeficiency 33

About this section
Search GEO for disease gene expression data for Immunodeficiency 33.

Pathways for genes affiliated with Immunodeficiency 33

About this section

Compounds for genes affiliated with Immunodeficiency 33

About this section

GO Terms for genes affiliated with Immunodeficiency 33

About this section

Products for genes affiliated with Immunodeficiency 33

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Immunodeficiency 33

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet