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

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

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48OMIM, 34MalaCards
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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:48 300301

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

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48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
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 48
anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema 50
ectodermal dysplasia, anhidrotic, with immune deficiency 63
ol-eda-id 50


External Ids:

OMIM48 300301
ICD10 via Orphanet27 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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48OMIM
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Clinical features from OMIM:

300301

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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34MalaCards
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MalaCards organs/tissues related to Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency:

34
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, 16Gene 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
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