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 51 24 12
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency Autosomal Dominant 69 26
Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency 67
 
Ectodermal Dysplasia Hypohidrotic with Immunodeficiency 69
Adedaid 69
Hed-Id 69

Characteristics:

HPO:

63
ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency:
Inheritance: autosomal dominant inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM51 612132
MedGen36 C2677481
MeSH38 D004476

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

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UniProtKB/Swiss-Prot:69 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 HTLV-I infection and Apoptosis Pathway. Affiliated tissues include t cells.

OMIM:51 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 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:

 63 (show all 12)
id Description HPO Frequency HPO Source Accession
1 hypodontia63 HP:0000668
2 conical tooth63 HP:0000698
3 hypohidrosis63 HP:0000966
4 anhidrosis63 HP:0000970
5 frontal bossing63 HP:0002007
6 heat intolerance63 HP:0002046
7 recurrent respiratory infections63 HP:0002205
8 recurrent infection of the gastrointestinal tract63 HP:0004798
9 anhidrotic ectodermal dysplasia63 HP:0007476
10 sparse hair63 HP:0008070
11 concave nasal ridge63 HP:0011120
12 aplasia of the sweat glands63 HP:0011136

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 Dominant26
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:

35
T cells

Animal Models for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency or affiliated genes

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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:

69
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 44)
idSuper pathwaysScoreTop Affiliating Genes
19.1IKBKG, NFKBIA
2
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9.1IKBKG, NFKBIA
3
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9.1IKBKG, NFKBIA
4
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9.1IKBKG, NFKBIA
5
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9.1IKBKG, NFKBIA
6
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9.1IKBKG, NFKBIA
7
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9.1IKBKG, NFKBIA
8
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9.1IKBKG, NFKBIA
9
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9.1IKBKG, NFKBIA
10
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9.1IKBKG, NFKBIA
11
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9.1IKBKG, NFKBIA
12
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9.1IKBKG, NFKBIA
13
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9.1IKBKG, NFKBIA
14
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9.1IKBKG, NFKBIA
15
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9.1IKBKG, NFKBIA
16
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9.1IKBKG, NFKBIA
17
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9.1IKBKG, NFKBIA
189.1IKBKG, NFKBIA
19
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9.1IKBKG, NFKBIA
20
Show member pathways
9.1IKBKG, NFKBIA
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9.1IKBKG, NFKBIA
229.1IKBKG, NFKBIA
239.1IKBKG, NFKBIA
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9.1IKBKG, NFKBIA
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Show member pathways
9.1IKBKG, NFKBIA
26
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9.1IKBKG, NFKBIA
279.1IKBKG, NFKBIA
289.1IKBKG, NFKBIA
299.1IKBKG, NFKBIA
309.1IKBKG, NFKBIA
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Show member pathways
9.1IKBKG, NFKBIA
329.1IKBKG, NFKBIA
339.1IKBKG, NFKBIA
349.1IKBKG, NFKBIA
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9.1IKBKG, NFKBIA
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Show member pathways
9.1IKBKG, NFKBIA
37
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9.1IKBKG, NFKBIA
38
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9.1IKBKG, NFKBIA
399.1IKBKG, NFKBIA
409.1IKBKG, NFKBIA
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9.1IKBKG, NFKBIA
429.1IKBKG, NFKBIA
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Show member pathways
9.1IKBKG, NFKBIA
449.1IKBKG, 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:00380959.5IKBKG, NFKBIA
2stimulatory C-type lectin receptor signaling pathwayGO:00022239.5IKBKG, NFKBIA
3T cell receptor signaling pathwayGO:00508529.4IKBKG, NFKBIA
4positive regulation of NF-kappaB transcription factor activityGO:00510929.3IKBKG, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet