MCID: ECT044
MIFTS: 17

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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MalaCards based summary: Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency, is also known as anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema, and has symptoms including ectodermal dysplasia, lymphedema and recurrent infections. 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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Sources:
46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet
See all sources

Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency, Aliases & Descriptions:

Name: Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency 46
Anhidrotic Ectodermal Dysplasia - Immunodeficiency - Osteopetrosis - Lymphedema 48
 
Ectodermal Dysplasia, Anhidrotic, with Immune Deficiency 61
Ol-Eda-Id 48


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


External Ids:

OMIM46 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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Clinical features from OMIM:

300301

HPO human phenotypes related to Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency:

id Description Frequency HPO Source Accession
1 ectodermal dysplasia HP:0000968
2 lymphedema HP:0001004
3 recurrent infections HP:0002719
4 immunodeficiency HP:0002721
5 osteopetrosis HP:0011002

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

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Drug clinical trials:

Search ClinicalTrials for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency

Search NIH Clinical Center for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency

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

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

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

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Clinvar genetic disease variations for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency:

7
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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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
  • Proteins
  • Kits and Assays

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

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet