MCID: ECT044
MIFTS: 16

Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency malady

Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases, Blood diseases, Immune diseases categories

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

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46OMIM, 32MalaCards
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MalaCards: Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency, also known as anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema, is related to hypohidrotic ectodermal dysplasia with immune deficiency. 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 bone and skin.

Description from OMIM:46 300301

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

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46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
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 46
anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema 48
ectodermal dysplasia, anhidrotic, with immune deficiency 60
ol-eda-id 48


External Ids:

OMIM46 300301
ICD10 via Orphanet26 Q78.2

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

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17GeneCards, 18GeneDecks
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Diseases related to Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hypohidrotic ectodermal dysplasia with immune deficiency10.4

Clinical Features for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

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46OMIM
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Clinical features from OMIM:

300301

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

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

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

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32MalaCards
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MalaCards organs/tissues related to Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency:

32
Bone, Skin

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

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

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1BioGPS, 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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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