NEMOID
MCID: IMM023
MIFTS: 20

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 58 54 76 38 30 6 74
Immunodeficiency, Isolated 58 54 13 41
Immunodeficiency, Pure 58 54
Immunodeficiency, Nemo-Related, Without Anhidrotic Ectodermal Dysplasia 76
X-Linked Pure Immunodeficiency 76
Isolated Immunodeficiency 76
Pure Immunodeficiency 76
Nemoid 76

Characteristics:

HPO:

33
immunodeficiency without anhidrotic ectodermal dysplasia:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 58 300584
KEGG 38 H01245
MeSH 45 D007153
MedGen 43 C1845117
UMLS 74 C1845117

Summaries for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Immunodeficiency Without Anhidrotic Ectodermal Dysplasia, also known as immunodeficiency, isolated, is related to leukemia, acute monocytic 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). Affiliated tissues include b cells, and related phenotypes are immunodeficiency and increased igm level

Description 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:

# Related Disease Score Top Affiliating Genes
1 leukemia, acute monocytic 9.7
2 acth deficiency, isolated 9.6
3 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.6
4 common variable immunodeficiency 9.6
5 severe combined immunodeficiency 9.6
6 combined t cell and b cell immunodeficiency 9.6
7 stomatitis 9.6

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:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 33 HP:0002721
2 increased igm level 33 HP:0003496
3 decreased circulating iga level 33 HP:0002720
4 decreased circulating igg level 33 HP:0004315
5 impaired memory b cell generation 33 HP:0002847
6 recurrent mycobacterium avium complex infections 33 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 30 IKBKG

Anatomical Context for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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

42
B Cells

Publications for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Variations for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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

76
# Symbol AA change Variation ID SNP ID
1 IKBKG p.Cys417Tyr VAR_026496 rs137853326

ClinVar genetic disease variations for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IKBKG IKBKG, IVS8, -1, G-A single nucleotide variant Pathogenic
2 IKBKG NM_003639.4(IKBKG): c.111dup (p.Met38Hisfs) duplication Pathogenic GRCh38 Chromosome X, 154552113: 154552113
3 IKBKG NM_003639.4(IKBKG): c.111dup (p.Met38Hisfs) duplication Pathogenic GRCh37 Chromosome X, 153780328: 153780328

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

GO Terms for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Sources for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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