MCID: NFK002
MIFTS: 8

Nf-Kappa B Essential Modulator Deficiency

Categories: Rare diseases, Genetic diseases, Immune diseases

Aliases & Classifications for Nf-Kappa B Essential Modulator Deficiency

MalaCards integrated aliases for Nf-Kappa B Essential Modulator Deficiency:

Name: Nf-Kappa B Essential Modulator Deficiency 49
X-Linked Mendelian Susceptibility to Mycobacterial Diseases Due to Ikbkg Deficiency 49
X-Linked Mendelian Susceptibility to Mycobacterial Diseases Due to Nemo Deficiency 49
Atypical Mycobacteriosis, Familial, X-Linked 1 69
Familial X-Linked 1 Atypical Mycobacteriosis 49
X-Linked Msmd Due to Ikbkg Deficiency 49
Nemo Deficiency Syndrome 49
Immunodeficiency 33 49

Classifications:



External Ids:

UMLS 69 C1970879

Summaries for Nf-Kappa B Essential Modulator Deficiency

MalaCards based summary : Nf-Kappa B Essential Modulator Deficiency, also known as x-linked mendelian susceptibility to mycobacterial diseases due to ikbkg deficiency, is related to immunodeficiency 33. An important gene associated with Nf-Kappa B Essential Modulator Deficiency is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Gamma).

Related Diseases for Nf-Kappa B Essential Modulator Deficiency

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

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 33 12.3

Symptoms & Phenotypes for Nf-Kappa B Essential Modulator Deficiency

Drugs & Therapeutics for Nf-Kappa B Essential Modulator Deficiency

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

Genetic Tests for Nf-Kappa B Essential Modulator Deficiency

Anatomical Context for Nf-Kappa B Essential Modulator Deficiency

Publications for Nf-Kappa B Essential Modulator Deficiency

Variations for Nf-Kappa B Essential Modulator Deficiency

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IKBKG NM_003639.4(IKBKG): c.944A> C (p.Glu315Ala) single nucleotide variant Pathogenic rs137853331 GRCh37 Chromosome X, 153791805: 153791805
2 IKBKG NM_003639.4(IKBKG): c.956G> A (p.Arg319Gln) single nucleotide variant Pathogenic rs137853332 GRCh37 Chromosome X, 153791817: 153791817

Expression for Nf-Kappa B Essential Modulator Deficiency

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

Pathways for Nf-Kappa B Essential Modulator Deficiency

GO Terms for Nf-Kappa B Essential Modulator Deficiency

Sources for Nf-Kappa B Essential Modulator Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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