MCID: NFK002
MIFTS: 8

Nf-Kappa B Essential Modulator Deficiency malady

Categories: Rare diseases, Immune diseases, Genetic diseases

Aliases & Classifications for Nf-Kappa B Essential Modulator Deficiency

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

Name: Nf-Kappa B Essential Modulator Deficiency 50
X-Linked Mendelian Susceptibility to Mycobacterial Diseases Due to Ikbkg Deficiency 50
X-Linked Mendelian Susceptibility to Mycobacterial Diseases Due to Nemo Deficiency 50
Atypical Mycobacteriosis, Familial, X-Linked 1 69
Familial X-Linked 1 Atypical Mycobacteriosis 50
X-Linked Msmd Due to Ikbkg Deficiency 50
Nemo Deficiency Syndrome 50
Immunodeficiency 33 50

Classifications:



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 and familial atypical mycobacteriosis, x-linked, ikbkg-related. 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:

id Related Disease Score Top Affiliating Genes
1 immunodeficiency 33 12.2
2 familial atypical mycobacteriosis, x-linked, ikbkg-related 10.9

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
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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