MCID: NFK002

Nf-Kappa B Essential Modulator Deficiency malady

Categories: Genetic diseases, Rare diseases, Immune diseases

Aliases & Classifications for Nf-Kappa B Essential Modulator Deficiency

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Aliases & Descriptions for Nf-Kappa B Essential Modulator Deficiency:

Name: Nf-Kappa B Essential Modulator Deficiency 47
Immunodeficiency 33 47 24
X-Linked Mendelian Susceptibility to Mycobacterial Diseases Due to Ikbkg Deficiency 47
X-Linked Mendelian Susceptibility to Mycobacterial Diseases Due to Nemo Deficiency 47
Atypical Mycobacterial Infection, Familial Disseminated, X-Linked 1 24
Atypical Mycobacterial Disease, Susceptibility to, X-Linked 1 24
 
Atypical Mycobacteriosis, Familial, X-Linked 1 67
Familial Atypical Mycobacteriosis, X-Linked 1 24
Familial X-Linked 1 Atypical Mycobacteriosis 47
X-Linked Msmd Due to Ikbkg Deficiency 47
Nemo Deficiency Syndrome 47
Imd33 24

Classifications:



Summaries for Nf-Kappa B Essential Modulator Deficiency

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MalaCards based summary: Nf-Kappa B Essential Modulator Deficiency, also known as immunodeficiency 33, is related to immunodeficiency 33. An important gene associated with Nf-Kappa B Essential Modulator Deficiency is IKBKG (Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Gamma).

Related Diseases for Nf-Kappa B Essential Modulator Deficiency

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Diseases related to Nf-Kappa B Essential Modulator Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1immunodeficiency 3312.2

Symptoms for Nf-Kappa B Essential Modulator Deficiency

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Drugs & Therapeutics for Nf-Kappa B Essential Modulator Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Nf-Kappa B Essential Modulator Deficiency

Genetic Tests for Nf-Kappa B Essential Modulator Deficiency

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Genetic tests related to Nf-Kappa B Essential Modulator Deficiency:

id Genetic test Affiliating Genes
1 Familial Atypical Mycobacteriosis, X-Linked 124 IKBKG

Anatomical Context for Nf-Kappa B Essential Modulator Deficiency

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Animal Models for Nf-Kappa B Essential Modulator Deficiency or affiliated genes

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Publications for Nf-Kappa B Essential Modulator Deficiency

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Variations for Nf-Kappa B Essential Modulator Deficiency

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Clinvar genetic disease variations for Nf-Kappa B Essential Modulator Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1IKBKGNM_003639.4(IKBKG): c.944A> C (p.Glu315Ala)SNVPathogenicrs137853331GRCh37Chr X, 153791805: 153791805
2IKBKGNM_003639.4(IKBKG): c.956G> A (p.Arg319Gln)SNVPathogenicrs137853332GRCh37Chr X, 153791817: 153791817

Expression for genes affiliated with Nf-Kappa B Essential Modulator Deficiency

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Search GEO for disease gene expression data for Nf-Kappa B Essential Modulator Deficiency.

Pathways for genes affiliated with Nf-Kappa B Essential Modulator Deficiency

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GO Terms for genes affiliated with Nf-Kappa B Essential Modulator Deficiency

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Sources for Nf-Kappa B Essential Modulator Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet