MCID: ECT032
MIFTS: 22

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 50 23 12
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency Autosomal Dominant 68 25
Ectodermal Dysplasia Hypohidrotic with Immunodeficiency 68
 
Adedaid 68
Hed-Id 68

Characteristics:

HPO:

62
ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency:
Inheritance: autosomal dominant inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 612132
MedGen35 C2677481
MeSH37 D004476

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

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UniProtKB/Swiss-Prot:68 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). Affiliated tissues include t cells.

OMIM:50 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 deficiency11.5
2hypohidrotic ectodermal dysplasia with immunodeficiency11.2
3ectodermal dysplasia10.3
4osteopetrosis10.2

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 Immunodeficiency, Autosomal Dominant25
2 Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency23 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:

34
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:

68
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
1NFKBIANM_020529.2(NFKBIA): c.95G> T (p.Ser32Ile)single nucleotide variantPathogenicrs28933100GRCh37Chr 14, 35873756: 35873756
2NFKBIANM_020529.2(NFKBIA): c.32G> A (p.Trp11Ter)single nucleotide variantPathogenicrs121913664GRCh37Chr 14, 35873819: 35873819
3NFKBIANM_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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GO Terms for genes affiliated with Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet