MCID: ECT044
MIFTS: 15

Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency malady

Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases, Blood diseases, Rare diseases, Immune diseases categories
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Summaries for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

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47OMIM, 33MalaCards
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MalaCards: Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency, is also known as anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema An important gene associated with Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency is IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma). Affiliated tissues include skin and bone.

Description from OMIM:47 300301

Aliases & Classifications for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

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47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 47
anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema 49
ectodermal dysplasia, anhidrotic, with immune deficiency 62
ol-eda-id 49


External Ids:

OMIM47 300301
ICD10 via Orphanet26 Q78.2

Related Diseases for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

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Symptoms for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

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47OMIM
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Clinical features from OMIM:

300301

Drugs & Therapeutics for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

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Anatomical Context for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

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33MalaCards
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MalaCards organs/tissues related to Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency:

33
Skin, Bone

Animal Models for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and... or affiliated genes

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Publications for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

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Variations for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1IKBKGNM_003639.4(IKBKG): c.1259A> G (p.Ter420Trp)single nucleotide variantPathogenicrs137853321GRCh37Chr X, 153792675: 153792675

Expression for genes affiliated with Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency

Search GEO for disease gene expression data for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency.

Pathways for genes affiliated with Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

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Compounds for genes affiliated with Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

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GO Terms for genes affiliated with Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

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Products for genes affiliated with Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

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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