MCID: ECT044
MIFTS: 17

Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency malady

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

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

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Sources:
46OMIM, 9diseasecard, 48Orphanet, 22GTR, 26ICD10 via Orphanet
See all sources

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

Name: Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency 46 9
Anhidrotic Ectodermal Dysplasia - Immunodeficiency - Osteopetrosis - Lymphedema 48 22
 
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 46
Ol-Eda-Id 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood


External Ids:

OMIM46 300301
Orphanet48 69088
ICD10 via Orphanet26 Q78.2

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

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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Genetic tests related to Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency:

id Genetic test Affiliating Genes
1 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema22

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

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

31
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:

5
id Gene Variation 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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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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Sources for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet