MCID: IMM023
MIFTS: 20

Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Categories: Genetic diseases, Rare diseases, Immune 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 75 37 29 6 73
Immunodeficiency, Isolated 57 53 13 40
Immunodeficiency, Pure 57 53
Immunodeficiency, Nemo-Related, Without Anhidrotic Ectodermal Dysplasia 75
X-Linked Pure Immunodeficiency 75
Isolated Immunodeficiency 75
Pure Immunodeficiency 75
Nemoid 75

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 57 300584
MedGen 42 C1845117
MeSH 44 D007153
KEGG 37 H01245
UMLS 73 C1845117

Summaries for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

UniProtKB/Swiss-Prot : 75 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 Subunit Gamma). Affiliated tissues include b cells, and related phenotypes are immunodeficiency and iga deficiency

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 9.6
2 acth deficiency, isolated 9.5
3 common variable immunodeficiency 9.5
4 stomatitis 9.5

Symptoms & Phenotypes for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Clinical features from OMIM:

300584

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 iga deficiency 32 HP:0002720
3 igg deficiency 32 HP:0004315
4 increased igm level 32 HP:0003496
5 impaired memory b cell generation 32 HP:0002847
6 recurrent mycobacterium avium complex infections 32 HP:0011275

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

Variations for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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

75
# 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 IKBKG, 1-BP INS, 110C insertion Pathogenic

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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