MCID: ECT044
MIFTS: 20

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...

About this section
Sources:
50OMIM, 12diseasecard, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 29ICD10 via Orphanet, 35MedGen, 37MeSH
See all MalaCards sources

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

Name: Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency 50 12
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis and Lymphedema 68 25
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 50
 
Anhidrotic Ectodermal Dysplasia-Immunodeficiency-Osteopetrosis-Lymphedema Syndrome 52
Ol-Eda-Id 52
Oledaid 68

Characteristics:

Orphanet epidemiological data:

52
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:

OMIM50 300301
Orphanet52 ORPHA69088
ICD10 via Orphanet29 Q78.2
MedGen35 C1845919
MeSH37 D004476

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

About this section
UniProtKB/Swiss-Prot:68 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:50 300301

Related Diseases for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

About this section

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

About this section


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...

About this section

Interventional clinical trials:

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

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

About this section

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

id Genetic test Affiliating Genes
1 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema25

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

About this section

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

About this section

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

About this section

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

About this section

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...

About this section
Search GEO for disease gene expression data for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency.

Pathways for genes affiliated with Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

About this section

GO Terms for genes affiliated with Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

About this section

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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet