MCID: ECT044
MIFTS: 10

Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency malady

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

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

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47OMIM, 33MalaCards
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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).

Description from OMIM:47 300301

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

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47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Cardiovascular, Bone, Skin, Blood, Immune


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 61
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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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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47OMIM
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Clinical features from OMIM:

300301

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

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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

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

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

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28inGenious Targeting Laboratory
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Publications for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

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

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

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

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

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

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

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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet