MCID: ECT032
MIFTS: 11

Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency malady

Genetic diseases (common), Immune diseases categories
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Summaries for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

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47OMIM, 33MalaCards
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MalaCards: Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency 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.

Description from OMIM:47 612132

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

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20GeneTests, 47OMIM
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Classifications:

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


Aliases & Descriptions:

ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency 20 47


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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47OMIM
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Symptoms by clinical synopsis from OMIM:

612132

Clinical features from OMIM:

612132

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

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests
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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

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

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33MalaCards
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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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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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency:

64
id Symbol AA change Variation ID SNP ID
1NFKBIAp.Ser32IleVAR_034871rs28933100

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

1
id Gene Name 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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

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

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

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet