MCID: ECT032
MIFTS: 10

Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency malady

Immune diseases category

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

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46OMIM, 32MalaCards
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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:46 612132

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

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Sources:
20GeneTests, 46OMIM
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Classifications:

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


Aliases & Descriptions:

ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency 20 46


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

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Clinical Features for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

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46OMIM
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Clinical features from OMIM:

612132

Clinical synopsis from OMIM:

612132

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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

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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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32MalaCards
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MalaCards organs/tissues related to Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency:

32
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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Genetic Variations for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency:

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

Expression for genes affiliated with Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

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Sources:
1BioGPS, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet