MCID: ECT032
MIFTS: 11

Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency malady

Genetic diseases (common), Immune diseases categories

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

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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:48 612132

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

About this section
Sources:
21GeneTests, 48OMIM
See all sources

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 21 48


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

About this section

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

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

612132

Clinical features from OMIM:

612132

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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

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

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

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

Genetic Tests for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency

About this section
Sources:
21GeneTests
See all sources

Genetic tests related to Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency:

id Genetic test Affiliating Genes
1 Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency21 NFKBIA

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

About this section
Sources:
34MalaCards
See all sources

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

About this section

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

About this section

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

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

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

65
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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet