NEMOID
MCID: IMM023
MIFTS: 27

Immunodeficiency Without Anhidrotic Ectodermal Dysplasia (NEMOID)

Categories: Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

MalaCards integrated aliases for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia:

Name: Immunodeficiency Without Anhidrotic Ectodermal Dysplasia 57 53 74 37 29 6 72
Immunodeficiency, Isolated 57 53 13 40
Immunodeficiency, Pure 57 53
Immunodeficiency, Nemo-Related, Without Anhidrotic Ectodermal Dysplasia 74
X-Linked Pure Immunodeficiency 74
Isolated Immunodeficiency 74
Pure Immunodeficiency 74
Nemoid 74

Characteristics:

HPO:

32
immunodeficiency without anhidrotic ectodermal dysplasia:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 300584
KEGG 37 H01245
MeSH 44 D007153
MedGen 42 C1845117
UMLS 72 C1845117

Summaries for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

KEGG : 37
A NEMO mutant causing immunodeficiency without any sign of anhidrotic ectodermal dysplasia (EDA) has been identified. The mutation, which altered the exon 9 splice site, was present in cells of ectodermal and hematopoietic origin and resulted in a heterogeneous mixture of mutant and wild-type cDNA species.

MalaCards based summary : Immunodeficiency Without Anhidrotic Ectodermal Dysplasia, also known as immunodeficiency, isolated, is related to immune deficiency disease and agammaglobulinemia. An important gene associated with Immunodeficiency Without Anhidrotic Ectodermal Dysplasia is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma), and among its related pathways/superpathways is ATM Signaling Network in Development and Disease. Affiliated tissues include b cells, and related phenotypes are immunodeficiency and decreased circulating iga level

UniProtKB/Swiss-Prot : 74 Immunodeficiency, NEMO-related, without anhidrotic ectodermal dysplasia: Patients manifest immunodeficiency not associated with other abnormalities, and resulting in increased susceptibility to infections. Patients suffer from multiple episodes of infectious diseases.

More information from OMIM: 300584

Related Diseases for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Diseases related to Immunodeficiency Without Anhidrotic Ectodermal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 immune deficiency disease 10.0
2 agammaglobulinemia 9.7
3 immunoglobulin a deficiency 1 9.6
4 ataxia-telangiectasia 9.6
5 ataxia and polyneuropathy, adult-onset 9.6
6 langerhans cell histiocytosis 9.6
7 giardiasis 9.6
8 telangiectasis 9.6
9 cryptosporidiosis 9.6
10 histiocytosis 9.6
11 bronchitis 9.6
12 severe combined immunodeficiency 9.6
13 acquired immunodeficiency syndrome 9.6
14 familial glucocorticoid deficiency 9.6
15 anemia, nonspherocytic hemolytic, due to g6pd deficiency 9.5 IKBKG G6PD

Graphical network of the top 20 diseases related to Immunodeficiency Without Anhidrotic Ectodermal Dysplasia:



Diseases related to Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Symptoms & Phenotypes for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Human phenotypes related to Immunodeficiency Without Anhidrotic Ectodermal Dysplasia:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 32 HP:0002721
2 decreased circulating iga level 32 HP:0002720
3 decreased circulating igg level 32 HP:0004315
4 increased circulating igm level 32 HP:0003496
5 impaired memory b cell generation 32 HP:0002847
6 recurrent mycobacterium avium complex infections 32 HP:0011275

Clinical features from OMIM:

300584

Drugs & Therapeutics for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Search Clinical Trials , NIH Clinical Center for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Genetic Tests for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Genetic tests related to Immunodeficiency Without Anhidrotic Ectodermal Dysplasia:

# Genetic test Affiliating Genes
1 Immunodeficiency Without Anhidrotic Ectodermal Dysplasia 29 IKBKG

Anatomical Context for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

MalaCards organs/tissues related to Immunodeficiency Without Anhidrotic Ectodermal Dysplasia:

41
B Cells

Publications for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Articles related to Immunodeficiency Without Anhidrotic Ectodermal Dysplasia:

# Title Authors PMID Year
1
The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation. 8 71
16532398 2006
2
Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia. 8 71
15577852 2004
3
Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia. 8 71
15356572 2004
4
Pushing the limits of the scanning mechanism for initiation of translation. 71
12459250 2002
5
Persistence of parvovirus B19-DNA in blood of a child with severe combined immunodeficiency associated with chronic pure red cell aplasia. 38
1915497 1991

Variations for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

ClinVar genetic disease variations for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 IKBKG IKBKG, IVS8, -1, G-A single nucleotide variant Pathogenic
2 IKBKG NM_003639.4(IKBKG): c.111dup (p.Met38fs) duplication Pathogenic X:153780328-153780328 X:154552113-154552113
3 IKBKG NM_000402.4(G6PD): c.210+3646C> T single nucleotide variant Uncertain significance X:153770605-153770605 X:154542390-154542390

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia:

74
# Symbol AA change Variation ID SNP ID
1 IKBKG p.Cys417Tyr VAR_026496 rs137853326

Expression for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Search GEO for disease gene expression data for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia.

Pathways for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Pathways related to Immunodeficiency Without Anhidrotic Ectodermal Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.29 IKBKG G6PD

GO Terms for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Molecular functions related to Immunodeficiency Without Anhidrotic Ectodermal Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.96 IKBKG G6PD
2 protein homodimerization activity GO:0042803 8.62 IKBKG G6PD

Sources for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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