MCID: ECT044
MIFTS: 15

Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency malady

Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases, Blood diseases, Rare diseases, Immune diseases categories
Download this MalaCard

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

About this section


Fully expand this MalaCard
MalaCards based summary: Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency, is also known as anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema and has symptoms including 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...

About this section
Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 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 62
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 Orphanet26 Q78.2

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

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...

About this section

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

About this section

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

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:

6
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...

About this section
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...

About this section

Compounds 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

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

About this section
  • Antibodies
  • Proteins
  • Lysates

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

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet