MCID: HYP208
MIFTS: 36

Hypohidrotic Ectodermal Dysplasia with Immune Deficiency malady

Skin diseases, Fetal diseases, Blood diseases, Immune diseases categories

Summaries for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

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21Genetics Home Reference, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a form of ectodermal dysplasia, which is a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands. In addition, immune system function is reduced in people with EDA-ID. The signs and symptoms of EDA-ID are evident soon after birth.

MalaCards: Hypohidrotic Ectodermal Dysplasia with Immune Deficiency, also known as ectodermal dysplasia, hypohidrotic, with immune deficiency, is related to hypohidrotic ectodermal dysplasia and osteopetrosis. An important gene associated with Hypohidrotic Ectodermal Dysplasia with Immune Deficiency is IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma), and among its related pathways are Osteoclast differentiation and Insulin receptor recycling. The compound geldanamycin have been mentioned in the context of this disorder. Affiliated tissues include skin.

Description from OMIM:46 300291,612132

Aliases & Classifications for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Skin diseases, Blood diseases, Immune diseases


Characteristics (Orphanet epidemiological data):

48
hed-id:
Inheritance: Autosomal dominant,X-linked recessive; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


Aliases & Descriptions:

hypohidrotic ectodermal dysplasia with immune deficiency 42 21
ectodermal dysplasia, hypohidrotic, with immune deficiency 42 20 22 21 46
hed-id 42 21 48
anhidrotic ectodermal dysplasia with immune deficiency 42 21
eda-id 21 48
hyper-igm immunodeficiency with hypohidrotic ectodermal dysplasia 21
ectodermal dysplasia, anhidrotic, with immune deficiency 60
hypohidrotic ectodermal dysplasia with immunodeficiency 48
anhidrotic ectodermal dysplasia with immunodeficiency 48


External Ids:

ICD10 via Orphanet26 D82.8

Related Diseases for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Hypohidrotic Ectodermal Dysplasia with Immune Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hypohidrotic ectodermal dysplasia30.5IKBKG, NFKBIA
2osteopetrosis10.2
3ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency10.2
4myelodysplastic syndromes10.0NFKBIA
5ectodermal dysplasia10.0IKBKG, NFKBIA
6t-cell leukemia10.0IKBKG, NFKBIA

Graphical network of diseases related to Hypohidrotic Ectodermal Dysplasia with Immune Deficiency:



Diseases related to hypohidrotic ectodermal dysplasia with immune deficiency

Clinical Features for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

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46OMIM
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Clinical features from OMIM:

300291,612132

Drugs & Therapeutics for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

Search CenterWatch for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

Genetic Tests for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Hypohidrotic Ectodermal Dysplasia with Immune Deficiency:

id Genetic test Affiliating Genes
1 Hypohidrotic Ectodermal Dysplasia with Immune Deficiency20 22 IKBKG

Anatomical Context for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

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32MalaCards
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MalaCards organs/tissues related to Hypohidrotic Ectodermal Dysplasia with Immune Deficiency:

32
Skin

Animal Models for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency or affiliated genes

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Publications for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

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Genetic Variations for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency:

62
id Symbol AA change Variation ID SNP ID
1IKBKGp.Arg175ProVAR_011320rs179363868
2IKBKGp.Leu227ProVAR_011321rs179363869
3IKBKGp.Ala288GlyVAR_011322
4IKBKGp.Asp311AsnVAR_011323rs179363867
5IKBKGp.Asp406ValVAR_011324
6IKBKGp.Cys417PheVAR_011325rs137853326
7IKBKGp.Cys417ArgVAR_011326
8IKBKGp.Leu153ArgVAR_026495

Expression for genes affiliated with Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

Search GEO for disease gene expression data for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency.

Pathways for genes affiliated with Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

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Sources:
29KEGG, 53Reactome, 51QIAGEN, 12EMD Millipore, 37NCBI BioSystems Database, 52R&D Systems, 59Tocris Bioscience, 4Cell Signaling Technology
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Pathways related to Hypohidrotic Ectodermal Dysplasia with Immune Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 65)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1NFKBIA, IKBKG
2
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9.1IKBKG, NFKBIA
3
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9.1NFKBIA, IKBKG
49.1IKBKG, NFKBIA
5
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9.1IKBKG, NFKBIA
6
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9.1NFKBIA, IKBKG
7
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9.1IKBKG, NFKBIA
89.1NFKBIA, IKBKG
9
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9.1IKBKG, NFKBIA
10
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9.1NFKBIA, IKBKG
119.1NFKBIA, IKBKG
12
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9.1NFKBIA, IKBKG
13
Development PDGF signaling via STATs and NF-kB
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9.1NFKBIA, IKBKG
14
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9.1NFKBIA, IKBKG
15
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9.1IKBKG, NFKBIA
169.1IKBKG, NFKBIA
179.1IKBKG, NFKBIA
189.1IKBKG, NFKBIA
19
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9.1IKBKG, NFKBIA
209.1NFKBIA, IKBKG
21
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9.1NFKBIA, IKBKG
22
Development Prolactin receptor signaling
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9.1IKBKG, NFKBIA
23
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9.1IKBKG, NFKBIA
24
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9.1IKBKG, NFKBIA
25
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9.1NFKBIA, IKBKG
26
Immune response NFAT in immune response
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9.1IKBKG, NFKBIA
27
Immune response Bacterial infections in normal airways
9.1IKBKG, NFKBIA
28
Apoptosis and survival Lymphotoxin-beta receptor signaling
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9.1NFKBIA, IKBKG
299.1IKBKG, NFKBIA
30
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9.1NFKBIA, IKBKG
319.1NFKBIA, IKBKG
32
Cytokine production by Th17 cells in CF (Mouse model)
9.1NFKBIA, IKBKG
339.1IKBKG, NFKBIA
349.1IKBKG, NFKBIA
35
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9.1NFKBIA, IKBKG
36
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9.1IKBKG, NFKBIA
37
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
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9.1NFKBIA, IKBKG
389.1IKBKG, NFKBIA
399.1IKBKG, NFKBIA
40
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9.1NFKBIA, IKBKG
419.1IKBKG, NFKBIA
42
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9.1IKBKG, NFKBIA
43
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9.1IKBKG, NFKBIA
44
Hide members
9.1IKBKG, NFKBIA
459.1NFKBIA, IKBKG
469.1NFKBIA, IKBKG
47
Mucin expression in CF via IL-6, IL-17 signaling pathways
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9.1IKBKG, NFKBIA
48
Hide members
9.1NFKBIA, IKBKG
499.1NFKBIA, IKBKG
509.1IKBKG, NFKBIA

Compounds for genes affiliated with Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

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Sources:
44Novoseek, 49PharmGKB, 59Tocris Bioscience, 11DrugBank
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Compounds related to Hypohidrotic Ectodermal Dysplasia with Immune Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1geldanamycin44 49 59 1112.1IKBKG, NFKBIA

GO Terms for genes affiliated with Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

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16Gene Ontology
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Biological processes related to Hypohidrotic Ectodermal Dysplasia with Immune Deficiency according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of type I interferon productionGO:0324819.4IKBKG, NFKBIA
2toll-like receptor 5 signaling pathwayGO:0341469.4IKBKG, NFKBIA
3toll-like receptor 10 signaling pathwayGO:0341669.4IKBKG, NFKBIA
4toll-like receptor TLR6:TLR2 signaling pathwayGO:0381249.4NFKBIA, IKBKG
5toll-like receptor TLR1:TLR2 signaling pathwayGO:0381239.4NFKBIA, IKBKG
6toll-like receptor 9 signaling pathwayGO:0341629.4IKBKG, NFKBIA
7toll-like receptor 2 signaling pathwayGO:0341349.4IKBKG, NFKBIA
8TRIF-dependent toll-like receptor signaling pathwayGO:0356669.4IKBKG, NFKBIA
9MyD88-independent toll-like receptor signaling pathwayGO:0027569.3NFKBIA, IKBKG
10MyD88-dependent toll-like receptor signaling pathwayGO:0027559.3IKBKG, NFKBIA
11toll-like receptor 3 signaling pathwayGO:0341389.3IKBKG, NFKBIA
12T cell receptor signaling pathwayGO:0508529.2IKBKG, NFKBIA
13toll-like receptor 4 signaling pathwayGO:0341429.2NFKBIA, IKBKG
14toll-like receptor signaling pathwayGO:0022249.1IKBKG, NFKBIA
15modulation by virus of host morphology or physiologyGO:0190489.1IKBKG, NFKBIA
16positive regulation of NF-kappaB transcription factor activityGO:0510929.0IKBKG, NFKBIA
17Fc-epsilon receptor signaling pathwayGO:0380958.8IKBKG, NFKBIA

Products for genes affiliated with Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

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Sources for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet