MCID: ECT032
MIFTS: 17

Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency malady

Genetic diseases (common), Immune diseases categories

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

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

Name: Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency 45 10 20
 
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Immune diseases


External Ids:

OMIM45 612132

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

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OMIM:45 Mutations in the NFKBIA gene result in functional impairment of NFKB1 (164011), a master transcription factor required... (612132) more...

MalaCards based summary: Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, is also known as ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant, and has symptoms including autosomal dominant inheritance, hypodontia and conical tooth. An important gene associated with Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency is NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha). Affiliated tissues include t cells.

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

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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 13)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hypodontia HP:0000668
3 conical tooth HP:0000698
4 hypohidrosis HP:0000966
5 anhidrosis HP:0000970
6 frontal bossing HP:0002007
7 heat intolerance HP:0002046
8 recurrent respiratory infections HP:0002205
9 infantile onset HP:0003593
10 recurrent infection of the gastrointestinal tract HP:0004798
11 sparse hair HP:0008070
12 concave nasal ridge HP:0011120
13 aplasia of the sweat glands HP:0011136

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

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Drug clinical trials:

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

Search 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 Immunodeficiency20 NFKBIA
2 Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant22

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:

31
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:

62
id Symbol AA change Variation ID SNP ID
1NFKBIAp.Ser32IleVAR_034871rs28933100

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

6
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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Compounds 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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Products for genes affiliated with Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet