NEMOID
MCID: IMM023
MIFTS: 26

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 56 52 73 36 29 6 71
Immunodeficiency, Isolated 56 52 13 39
Immunodeficiency, Pure 56 52
Immunodeficiency, Nemo-Related, Without Anhidrotic Ectodermal Dysplasia 73
X-Linked Pure Immunodeficiency 73
Isolated Immunodeficiency 73
Pure Immunodeficiency 73
Nemoid 73

Characteristics:

HPO:

31
immunodeficiency without anhidrotic ectodermal dysplasia:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 56 300584
KEGG 36 H01245
MeSH 43 D007153
MedGen 41 C1845117
UMLS 71 C1845117

Summaries for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

KEGG : 36 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 acth deficiency, isolated. 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 : 73 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

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:

31 (showing 6, show less)
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 31 HP:0002721
2 decreased circulating iga level 31 HP:0002720
3 decreased circulating igg level 31 HP:0004315
4 increased circulating igm level 31 HP:0003496
5 impaired memory b cell generation 31 HP:0002847
6 recurrent mycobacterium avium complex infections 31 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:

40
B Cells

Publications for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Articles related to Immunodeficiency Without Anhidrotic Ectodermal Dysplasia:

(showing 5, show less)
# Title Authors PMID Year
1
The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation. 56 6
16532398 2006
2
Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia. 56 6
15577852 2004
3
Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia. 56 6
15356572 2004
4
Pushing the limits of the scanning mechanism for initiation of translation. 6
12459250 2002
5
Persistence of parvovirus B19-DNA in blood of a child with severe combined immunodeficiency associated with chronic pure red cell aplasia. 61
1915497 1991

Variations for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

ClinVar genetic disease variations for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia:

6 (showing 3, show less) ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IKBKG IKBKG, IVS8, -1, G-ASNV Pathogenic 11464
2 IKBKG NM_003639.4(IKBKG):c.111dup (p.Met38fs)duplication Pathogenic 11465 rs1569556522 X:153780326-153780327 X:154552111-154552112
3 IKBKG NM_001360016.2(G6PD):c.120+3646C>TSNV Uncertain significance 625962 rs782367664 X:153770605-153770605 X:154542390-154542390

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

73 (showing 1, show less)
# 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:

(showing 1, show less)
# 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:

(showing 2, show less)
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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