MCID: ECT044
MIFTS: 19

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:
49OMIM, 11diseasecard, 51Orphanet, 24GTR, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency:

Name: Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency 49 11
Anhidrotic Ectodermal Dysplasia-Immunodeficiency-Osteopetrosis-Lymphedema Syndrome 51 24
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis and Lymphedema 67
 
Ol-Eda-Id 51
Oledaid 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood


External Ids:

OMIM49 300301
Orphanet51 69088
ICD10 via Orphanet28 Q78.2
MedGen34 C1845919
MeSH36 D004476

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

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UniProtKB/Swiss-Prot:67 Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis and lymphedema: A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by the association of anhidrotic ectodermal dysplasia with severe immunodeficiency, osteopetrosis and lymphedema.

MalaCards based summary: Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency, is also known as anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome, 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 skin and bone.

Description from OMIM:49 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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Interventional clinical trials:

Search ClinicalTrials, 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 Lymphedema24

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

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

33
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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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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet