ADEDAID
MCID: ECT032
MIFTS: 32

Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency (ADEDAID) malady

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

Aliases & Descriptions for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency:

Name: Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency 54 24 13
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency Autosomal Dominant 66 29
Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency 69
Ectodermal Dysplasia Hypohidrotic with Immunodeficiency 66
Adedaid 66
Hed-Id 66

Characteristics:

HPO:

32
ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 612132
MedGen 40 C2677481
MeSH 42 D004476

Summaries for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

UniProtKB/Swiss-Prot : 66 Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency autosomal dominant: A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. This form of ectodermal dysplasia is associated with decreased production of pro-inflammatory cytokines and certain interferons, rendering patients susceptible to infection.

MalaCards based summary : Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, also known as ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency autosomal dominant, is related to ectodermal dysplasia, hypohidrotic, with immune deficiency and hypohidrotic ectodermal dysplasia with immunodeficiency, and has symptoms including frontal bossing, recurrent respiratory infections and concave nasal ridge. An important gene associated with Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency is NFKBIA (NFKB Inhibitor Alpha), and among its related pathways/superpathways are TNFR1 Pathway and RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways. Affiliated tissues include t cells, and related phenotype is Increased shRNA abundance (Z-score > 2).

OMIM : 54 Mutations in the NFKBIA gene result in functional impairment of NFKB1 (164011), a master transcription factor required... (612132) more...

Related Diseases for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

Diseases related to Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia, hypohidrotic, with immune deficiency 11.3
2 hypohidrotic ectodermal dysplasia with immunodeficiency 11.1
3 ectodermal dysplasia 10.2
4 osteopetrosis 10.0
5 end stage renal failure 9.8 IKBKG NFKBIA
6 intravascular large b-cell lymphoma 9.8 IKBKG NFKBIA
7 chorea, hereditary benign 9.7 IKBKG NFKBIA

Graphical network of the top 20 diseases related to Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency:



Diseases related to Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

Symptoms & Phenotypes for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

Symptoms by clinical synopsis from OMIM:

612132

Clinical features from OMIM:

612132

Human phenotypes related to Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 frontal bossing 32 HP:0002007
2 recurrent respiratory infections 32 HP:0002205
3 concave nasal ridge 32 HP:0011120
4 hypohidrosis 32 HP:0000966
5 hypodontia 32 HP:0000668
6 sparse hair 32 HP:0008070
7 anhidrosis 32 HP:0000970
8 conical tooth 32 HP:0000698
9 heat intolerance 32 HP:0002046
10 anhidrotic ectodermal dysplasia 32 HP:0007476
11 recurrent infection of the gastrointestinal tract 32 HP:0004798
12 aplasia of the sweat glands 32 HP:0011136

GenomeRNAi Phenotypes related to Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.28 IKBKG
2 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.28 NFKBIA
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.28 NFKBIA
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.28 IKBKG
5 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.28 IKBKG
6 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.28 IKBKG
7 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.28 IKBKG
8 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.28 IKBKG NFKBIA

Drugs & Therapeutics for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

Genetic Tests for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

Genetic tests related to Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency:

id Genetic test Affiliating Genes
1 Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant 29
2 Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency 24 NFKBIA

Anatomical Context for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

MalaCards organs/tissues related to Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency:

39
T Cells

Publications for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

Variations for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency:

66
id Symbol AA change Variation ID SNP ID
1 NFKBIA p.Ser32Ile VAR_034871 rs28933100

ClinVar genetic disease variations for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NFKBIA NM_020529.2(NFKBIA): c.95G> T (p.Ser32Ile) single nucleotide variant Pathogenic rs28933100 GRCh37 Chromosome 14, 35873756: 35873756
2 NFKBIA NM_020529.2(NFKBIA): c.32G> A (p.Trp11Ter) single nucleotide variant Pathogenic rs121913664 GRCh37 Chromosome 14, 35873819: 35873819
3 NFKBIA NM_020529.2(NFKBIA): c.40G> T (p.Glu14Ter) single nucleotide variant Pathogenic rs121913665 GRCh37 Chromosome 14, 35873811: 35873811

Expression for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

Search GEO for disease gene expression data for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency.

Pathways for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

Pathways related to Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency according to GeneCards Suite gene sharing:

(show top 50) (show all 62)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.51 IKBKG NFKBIA
2
Show member pathways
12.37 IKBKG NFKBIA
3
Show member pathways
12.36 IKBKG NFKBIA
4
Show member pathways
12.34 IKBKG NFKBIA
5 12.32 IKBKG NFKBIA
6
Show member pathways
12.31 IKBKG NFKBIA
7
Show member pathways
12.31 IKBKG NFKBIA
8
Show member pathways
12.28 IKBKG NFKBIA
9
Show member pathways
12.26 IKBKG NFKBIA
10
Show member pathways
12.25 IKBKG NFKBIA
11
Show member pathways
12.24 IKBKG NFKBIA
12
Show member pathways
12.24 IKBKG NFKBIA
13
Show member pathways
12.21 IKBKG NFKBIA
14 12.2 IKBKG NFKBIA
15
Show member pathways
12.15 IKBKG NFKBIA
16
Show member pathways
12.15 IKBKG NFKBIA
17
Show member pathways
12.12 IKBKG NFKBIA
18
Show member pathways
12.11 IKBKG NFKBIA
19
Show member pathways
12.1 IKBKG NFKBIA
20
Show member pathways
12.1 IKBKG NFKBIA
21
Show member pathways
12.1 IKBKG NFKBIA
22 12.09 IKBKG NFKBIA
23
Show member pathways
12.07 IKBKG NFKBIA
24
Show member pathways
12.06 IKBKG NFKBIA
25
Show member pathways
12.05 IKBKG NFKBIA
26
Show member pathways
12.04 IKBKG NFKBIA
27
Show member pathways
12.02 IKBKG NFKBIA
28
Show member pathways
12 IKBKG NFKBIA
29
Show member pathways
11.99 IKBKG NFKBIA
30
Show member pathways
11.97 IKBKG NFKBIA
31 11.96 IKBKG NFKBIA
32 11.95 IKBKG NFKBIA
33
Show member pathways
11.93 IKBKG NFKBIA
34
Show member pathways
11.92 IKBKG NFKBIA
35
Show member pathways
11.92 IKBKG NFKBIA
36
Show member pathways
11.91 IKBKG NFKBIA
37
Show member pathways
11.84 IKBKG NFKBIA
38
Show member pathways
11.78 IKBKG NFKBIA
39 11.78 IKBKG NFKBIA
40
Show member pathways
11.76 IKBKG NFKBIA
41 11.72 IKBKG NFKBIA
42 11.7 IKBKG NFKBIA
43
Show member pathways
11.68 IKBKG NFKBIA
44 11.67 IKBKG NFKBIA
45 11.6 IKBKG NFKBIA
46 11.54 IKBKG NFKBIA
47
Show member pathways
11.52 IKBKG NFKBIA
48
Show member pathways
11.48 IKBKG NFKBIA
49 11.45 IKBKG NFKBIA
50
Show member pathways
11.43 IKBKG NFKBIA

GO Terms for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

Biological processes related to Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.4 IKBKG NFKBIA
2 protein deubiquitination GO:0016579 9.37 IKBKG NFKBIA
3 Fc-epsilon receptor signaling pathway GO:0038095 9.32 IKBKG NFKBIA
4 T cell receptor signaling pathway GO:0050852 9.26 IKBKG NFKBIA
5 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.16 IKBKG NFKBIA
6 stimulatory C-type lectin receptor signaling pathway GO:0002223 8.96 IKBKG NFKBIA
7 I-kappaB kinase/NF-kappaB signaling GO:0007249 8.62 IKBKG NFKBIA

Molecular functions related to Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 8.62 IKBKG NFKBIA

Sources for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

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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