MCID: ECT044
MIFTS: 19

Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency malady

Categories: Genetic diseases, Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases, Blood diseases, Rare diseases, Immune diseases

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

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Sources:
12diseasecard, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 51OMIM, 53Orphanet, 67UMLS, 69UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency 51 12
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 51 67
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis and Lymphedema 69 26
 
Anhidrotic Ectodermal Dysplasia-Immunodeficiency-Osteopetrosis-Lymphedema Syndrome 53
Ol-Eda-Id 53
Oledaid 69

Characteristics:

Orphanet epidemiological data:

53
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

Classifications:



External Ids:

OMIM51 300301
Orphanet53 ORPHA69088
ICD10 via Orphanet30 Q78.2
MedGen36 C1845919
MeSH38 D004476

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

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UniProtKB/Swiss-Prot:69 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 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and 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 skin and bone.

Description from OMIM:51 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

Human phenotypes related to Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency:

 63
id Description HPO Frequency HPO Source Accession
1 ectodermal dysplasia63 HP:0000968
2 lymphedema63 HP:0001004
3 recurrent infections63 HP:0002719
4 immunodeficiency63 HP:0002721
5 osteopetrosis63 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 Lymphedema26

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

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

35
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)SNVPathogenicrs137853321GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet