MCID: ECT032
MIFTS: 32

Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency malady

Categories: Genetic diseases (common), Immune diseases

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

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

Name: Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency 52 24 12
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency Autosomal Dominant 70 27
Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency 68
 
Ectodermal Dysplasia Hypohidrotic with Immunodeficiency 70
Adedaid 70
Hed-Id 70

Characteristics:

HPO:

64
ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency:
Inheritance: autosomal dominant inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 612132
MedGen37 C2677481
MeSH39 D004476

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

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UniProtKB/Swiss-Prot:70 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 hypodontia, conical tooth and hypohidrosis. An important gene associated with Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency is NFKBIA (NFKB Inhibitor Alpha), and among its related pathways are Insulin receptor recycling and Immune response IL-23 signaling pathway. Affiliated tissues include t cells, and related mouse phenotype Increased shRNA abundance (Z-score > 2).

OMIM:52 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

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

idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia, hypohidrotic, with immune deficiency11.3
2hypohidrotic ectodermal dysplasia with immunodeficiency11.1
3ectodermal dysplasia10.2
4osteopetrosis10.0
5emery-dreifuss muscular dystrophy, x-linked9.5IKBKG, NFKBIA
6acute myeloid leukemia with 11q23 abnormalities9.3IKBKG, NFKBIA

Graphical network of 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

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Symptoms by clinical synopsis from OMIM:

612132

Clinical features from OMIM:

612132

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

 64 (show all 12)
id Description HPO Frequency HPO Source Accession
1 hypodontia64 HP:0000668
2 conical tooth64 HP:0000698
3 hypohidrosis64 HP:0000966
4 anhidrosis64 HP:0000970
5 frontal bossing64 HP:0002007
6 heat intolerance64 HP:0002046
7 recurrent respiratory infections64 HP:0002205
8 recurrent infection of the gastrointestinal tract64 HP:0004798
9 anhidrotic ectodermal dysplasia64 HP:0007476
10 sparse hair64 HP:0008070
11 concave nasal ridge64 HP:0011120
12 aplasia of the sweat glands64 HP:0011136

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-359.1IKBKG, NFKBIA

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

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Interventional clinical trials:

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

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

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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 Dominant27
2 Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency24 NFKBIA

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

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

36
T cells

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

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

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

70
id Symbol AA change Variation ID SNP ID
1NFKBIAp.Ser32IleVAR_034871rs28933100

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1IKBKGIKBKG, 1-BP DUP, 1167CduplicationPathogenicChr na, -1: -1
2IKBKGNM_003639.4(IKBKG): c.1250G> T (p.Cys417Phe)SNVPathogenicrs137853326GRCh37Chr X, 153792666: 153792666
3NFKBIANM_020529.2(NFKBIA): c.95G> T (p.Ser32Ile)SNVPathogenicrs28933100GRCh37Chr 14, 35873756: 35873756
4NFKBIANM_020529.2(NFKBIA): c.32G> A (p.Trp11Ter)SNVPathogenicrs121913664GRCh37Chr 14, 35873819: 35873819
5NFKBIANM_020529.2(NFKBIA): c.40G> T (p.Glu14Ter)SNVPathogenicrs121913665GRCh37Chr 14, 35873811: 35873811

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

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

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

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

(show all 50)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1IKBKG, NFKBIA
2
Show member pathways
9.1IKBKG, NFKBIA
3
Show member pathways
9.1IKBKG, NFKBIA
4
Show member pathways
9.1IKBKG, NFKBIA
5
Show member pathways
9.1IKBKG, NFKBIA
6
Show member pathways
9.1IKBKG, NFKBIA
7
Show member pathways
9.1IKBKG, NFKBIA
8
Show member pathways
9.1IKBKG, NFKBIA
9
Show member pathways
9.1IKBKG, NFKBIA
10
Show member pathways
9.1IKBKG, NFKBIA
119.1IKBKG, NFKBIA
12
Show member pathways
9.1IKBKG, NFKBIA
139.1IKBKG, NFKBIA
14
Show member pathways
9.1IKBKG, NFKBIA
159.1IKBKG, NFKBIA
16
Show member pathways
9.1IKBKG, NFKBIA
17
Show member pathways
9.1IKBKG, NFKBIA
18
Show member pathways
9.1IKBKG, NFKBIA
19
Show member pathways
9.1IKBKG, NFKBIA
20
Show member pathways
9.1IKBKG, NFKBIA
21
Show member pathways
9.1IKBKG, NFKBIA
22
Show member pathways
9.1IKBKG, NFKBIA
23
Show member pathways
9.1IKBKG, NFKBIA
24
Show member pathways
9.1IKBKG, NFKBIA
25
Show member pathways
9.1IKBKG, NFKBIA
26
Show member pathways
9.1IKBKG, NFKBIA
27
Show member pathways
9.1IKBKG, NFKBIA
28
Show member pathways
9.1IKBKG, NFKBIA
299.1IKBKG, NFKBIA
309.1IKBKG, NFKBIA
319.1IKBKG, NFKBIA
32
Show member pathways
9.1IKBKG, NFKBIA
339.1IKBKG, NFKBIA
349.1IKBKG, NFKBIA
35
Show member pathways
9.1IKBKG, NFKBIA
369.1IKBKG, NFKBIA
379.1IKBKG, NFKBIA
38
Show member pathways
9.1IKBKG, NFKBIA
399.1IKBKG, NFKBIA
40
Show member pathways
9.1IKBKG, NFKBIA
419.1IKBKG, NFKBIA
429.1IKBKG, NFKBIA
43
Show member pathways
9.1IKBKG, NFKBIA
44
Show member pathways
9.1IKBKG, NFKBIA
45
Show member pathways
9.1IKBKG, NFKBIA
46
Show member pathways
9.1IKBKG, NFKBIA
479.1IKBKG, NFKBIA
489.1IKBKG, NFKBIA
49
Show member pathways
9.1IKBKG, NFKBIA
509.1IKBKG, NFKBIA

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

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

idNameGO IDScoreTop Affiliating Genes
1Fc-epsilon receptor signaling pathwayGO:00380959.8IKBKG, NFKBIA
2positive regulation of NF-kappaB transcription factor activityGO:00510929.8IKBKG, NFKBIA
3stimulatory C-type lectin receptor signaling pathwayGO:00022239.8IKBKG, NFKBIA
4T cell receptor signaling pathwayGO:00508529.8IKBKG, NFKBIA
5viral processGO:00160329.1IKBKG, NFKBIA

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

idNameGO IDScoreTop Affiliating Genes
1ubiquitin protein ligase bindingGO:00316259.1IKBKG, NFKBIA

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet