MCID: ECT032
MIFTS: 34

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 49 11 22
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency Autosomal Dominant 67 24
Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency 65
 
Ectodermal Dysplasia Hypohidrotic with Immunodeficiency 67
Adedaid 67
Hed-Id 67

Characteristics:

HPO:

61
ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency:
Inheritance: autosomal dominant inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM49 612132
MedGen34 C2677481
MeSH36 D004476
UMLS65 C1846006

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

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UniProtKB/Swiss-Prot:67 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 Apoptosis Pathway and ICos-ICosL Pathway in T-Helper Cell. Affiliated tissues include t cells.

OMIM:49 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 deficiency11.9
2hypohidrotic ectodermal dysplasia with immunodeficiency11.6
3colorectal cancer10.5
4emery-dreifuss muscular dystrophy, dominant type9.7IKBKG, NFKBIA
5primary mediastinal large b-cell lymphoma9.6IKBKG, NFKBIA
6thyroid cancer, monmedullary, 19.5IKBKG, 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

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

(show all 12)
id Description Frequency HPO Source Accession
1 hypodontia HP:0000668
2 conical tooth HP:0000698
3 hypohidrosis HP:0000966
4 anhidrosis HP:0000970
5 frontal bossing HP:0002007
6 heat intolerance HP:0002046
7 recurrent respiratory infections HP:0002205
8 recurrent infection of the gastrointestinal tract HP:0004798
9 anhidrotic ectodermal dysplasia HP:0007476
10 sparse hair HP:0008070
11 concave nasal ridge HP:0011120
12 aplasia of the sweat glands 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 Immunodeficiency22 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:

33
T cells

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

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MGI Mouse Phenotypes related to Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

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:

67
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
1IKBKGNM_003639.4(IKBKG): c.1249T> C (p.Cys417Arg)single nucleotide variantPathogenicrs137853325GRCh37Chr X, 153792665: 153792665
2IKBKGIKBKG, 1-BP DUP, 1167CduplicationPathogenic
3IKBKGNM_003639.4(IKBKG): c.1250G> T (p.Cys417Phe)single nucleotide variantPathogenicrs137853326GRCh37Chr X, 153792666: 153792666
4IKBKGNM_003639.4(IKBKG): c.1217A> T (p.Asp406Val)single nucleotide variantPathogenicrs137853327GRCh37Chr X, 153792633: 153792633
5NFKBIANM_020529.2(NFKBIA): c.95G> T (p.Ser32Ile)single nucleotide variantPathogenicrs28933100GRCh37Chr 14, 35873756: 35873756
6NFKBIANM_020529.2(NFKBIA): c.32G> A (p.Trp11Ter)single nucleotide variantPathogenicrs121913664GRCh37Chr 14, 35873819: 35873819
7NFKBIANM_020529.2(NFKBIA): c.40G> T (p.Glu14Ter)single nucleotide variantPathogenicrs121913665GRCh37Chr 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 top 50)    (show all 52)
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
49.1IKBKG, NFKBIA
5
Show member pathways
9.1IKBKG, NFKBIA
6
Show member pathways
9.1IKBKG, NFKBIA
7
Show member pathways
9.1IKBKG, NFKBIA
89.1IKBKG, NFKBIA
9
Show member pathways
9.1IKBKG, NFKBIA
10
Show member pathways
9.1IKBKG, NFKBIA
11
Show member pathways
9.1IKBKG, NFKBIA
12
Show member pathways
9.1IKBKG, NFKBIA
13
Show member pathways
9.1IKBKG, NFKBIA
14
Show member pathways
9.1IKBKG, NFKBIA
15
Show member pathways
9.1IKBKG, 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
259.1IKBKG, 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
31
Show member pathways
9.1IKBKG, 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
389.1IKBKG, NFKBIA
39
Show member pathways
9.1IKBKG, NFKBIA
40
Show member pathways
9.1IKBKG, NFKBIA
41
Show member pathways
9.1IKBKG, 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
469.1IKBKG, NFKBIA
47
Show member pathways
9.1IKBKG, NFKBIA
489.1IKBKG, NFKBIA
499.1IKBKG, 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:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1toll-like receptor TLR1:TLR2 signaling pathwayGO:00381239.5IKBKG, NFKBIA
2toll-like receptor TLR6:TLR2 signaling pathwayGO:00381249.4IKBKG, NFKBIA
3MyD88-dependent toll-like receptor signaling pathwayGO:00027559.4IKBKG, NFKBIA
4viral processGO:00160329.3IKBKG, NFKBIA
5positive regulation of NF-kappaB transcription factor activityGO:00510929.2IKBKG, NFKBIA
6MyD88-independent toll-like receptor signaling pathwayGO:00027569.1IKBKG, NFKBIA
7TRIF-dependent toll-like receptor signaling pathwayGO:00356669.1IKBKG, NFKBIA
8toll-like receptor 9 signaling pathwayGO:00341629.0IKBKG, NFKBIA
9toll-like receptor 5 signaling pathwayGO:00341468.8IKBKG, NFKBIA

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet