MCID: HYP208
MIFTS: 34

Hypohidrotic Ectodermal Dysplasia with Immune Deficiency malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Blood diseases, Immune diseases categories

Summaries for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

About this section
Sources:
22Genetics Home Reference, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
Genetics Home Reference:22 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 ectodermal dysplasia. 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 TRAF Pathway and Hepatitis C. The compounds arginine and geldanamycin have been mentioned in the context of this disorder. Affiliated tissues include skin.

Description from OMIM:48 300291,612132

Aliases & Classifications for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

About this section
Sources:
44NIH Rare Diseases, 22Genetics Home Reference, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
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 44 22
ectodermal dysplasia, hypohidrotic, with immune deficiency 44 21 23 22 48
hed-id 44 22 50
anhidrotic ectodermal dysplasia with immune deficiency 44 22
eda-id 22 50
hyper-igm immunodeficiency with hypohidrotic ectodermal dysplasia 22
ectodermal dysplasia, anhidrotic, with immune deficiency 63
hypohidrotic ectodermal dysplasia with immunodeficiency 50
anhidrotic ectodermal dysplasia with immunodeficiency 50


External Ids:

ICD10 via Orphanet27 D82.8

Related Diseases for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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 dysplasia30.6IKBKG, NFKBIA
2ectodermal dysplasia30.5IKBKG, NFKBIA
3osteopetrosis10.3
4ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency10.2
5ipex syndrome10.0IKBKG, NFKBIA
6t-cell leukemia9.9IKBKG, NFKBIA

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



Diseases related to hypohidrotic ectodermal dysplasia with immune deficiency

Symptoms for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

300291,612132

Drugs & Therapeutics for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

Drug clinical trials:

Search ClinicalTrials for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

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

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Hypohidrotic Ectodermal Dysplasia with Immune Deficiency:

id Genetic test Affiliating Genes
1 Hypohidrotic Ectodermal Dysplasia with Immune Deficiency21 23 IKBKG

Anatomical Context for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

About this section
Sources:
34MalaCards
See all sources

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

34
Skin

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

About this section

Publications for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

About this section

Variations for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

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

65
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

Clinvar genetic disease variations for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1IKBKGNM_003639.4(IKBKG): c.1171G> T (p.Glu391Ter)single nucleotide variantPathogenicrs137853324GRCh37Chr X, 153792587: 153792587
2IKBKGNM_003639.4(IKBKG): c.1249T> C (p.Cys417Arg)single nucleotide variantPathogenicrs137853325GRCh37Chr X, 153792665: 153792665
3IKBKGIKBKG, 1-BP DUP, 1167CduplicationPathogenic
4IKBKGNM_003639.4(IKBKG): c.1250G> T (p.Cys417Phe)single nucleotide variantPathogenicrs137853326GRCh37Chr X, 153792666: 153792666
5IKBKGNM_003639.4(IKBKG): c.1217A> T (p.Asp406Val)single nucleotide variantPathogenicrs137853327GRCh37Chr X, 153792633: 153792633
6IKBKGIKBKG, 4.4-KB DUPduplicationPathogenic
7IKBKGNM_003639.4(IKBKG): c.458T> G (p.Leu153Arg)single nucleotide variantPathogenicrs137853328GRCh37Chr X, 153786805: 153786805
8IKBKGNM_003639.4(IKBKG): c.1207C> T (p.Gln403Ter)single nucleotide variantPathogenicrs137853329GRCh37Chr X, 153792623: 153792623
9IKBKGIKBKG, IVS6DS, G-A, +5single nucleotide variantPathogenic
10IKBKGIKBKG, 1-BP INS, 1409AinsertionPathogenic

Expression for genes affiliated with Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 54QIAGEN, 31KEGG, 61Thomson Reuters, 39NCBI BioSystems Database, 56Reactome, 62Tocris Bioscience, 55R&D Systems, 5Cell Signaling Technology
See all sources

Pathways related to Hypohidrotic Ectodermal Dysplasia with Immune Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 70)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1NFKBIA, IKBKG
29.1NFKBIA, IKBKG
3
Show member pathways
IL23-mediated signaling events39
Immune response IL 10 signaling pathway61
Angiopoietin receptor Tie2-mediated signaling39
Development PDGF signaling via STATs and NF kB61
Development Angiopoietin Tie2 signaling61
9.1IKBKG, NFKBIA
4
Show member pathways
Prolactin Signaling Pathway39
Development Prolactin receptor signaling61
Leptin signaling pathway39
9.1NFKBIA, IKBKG
5
Show member pathways
Development ERBB family signaling61
Development GDNF family signaling61
9.1NFKBIA, IKBKG
69.1IKBKG, NFKBIA
7
Show member pathways
9.1NFKBIA, IKBKG
89.1NFKBIA, IKBKG
9
Show member pathways
Apoptosis Modulation and Signaling39
Apoptosis39
9.1NFKBIA, IKBKG
10
Show member pathways
9.1IKBKG, NFKBIA
11
Show member pathways
9.1IKBKG, NFKBIA
12
Show member pathways
9.1IKBKG, NFKBIA
13
Show member pathways
9.1IKBKG, NFKBIA
14
Show member pathways
Alternative NF-kappaB pathway39
9.1NFKBIA, IKBKG
15
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways61
Immune response IL 1 signaling pathway61
9.1NFKBIA, IKBKG
16
Show member pathways
9.1IKBKG, NFKBIA
17
Show member pathways
Immune response BCR pathway61
Fc-epsilon receptor I signaling in mast cells39
9.1NFKBIA, IKBKG
189.1NFKBIA, IKBKG
19
Show member pathways
Signaling Pathways in Glioblastoma39
9.1IKBKG, NFKBIA
20
Show member pathways
BCR signaling pathway39
TCR Signaling Pathway39
9.1NFKBIA, IKBKG
21
Show member pathways
Immune response T cell receptor signaling pathway61
Immune response CD28 signaling61
Immune response ICOS pathway in T helper cell61
9.1NFKBIA, IKBKG
229.1NFKBIA, IKBKG
23
Show member pathways
Apoptosis and survival TNFR1 signaling pathway61
TWEAK Signaling Pathway39
Apoptosis Modulation by HSP7039
HIV-1 Nef- Negative effector of Fas and TNF-alpha39
9.1IKBKG, NFKBIA
24
Show member pathways
9.1NFKBIA, IKBKG
25
Show member pathways
9.1IKBKG, NFKBIA
26
Show member pathways
9.1NFKBIA, IKBKG
27
Show member pathways
9.1NFKBIA, IKBKG
28
Show member pathways
9.1IKBKG, NFKBIA
299.1IKBKG, NFKBIA
309.1NFKBIA, IKBKG
31
Show member pathways
9.1NFKBIA, IKBKG
32
Show member pathways
Development VEGF signaling via VEGFR2 generic cascades61
9.1IKBKG, NFKBIA
33
Show member pathways
Apoptosis and survival Lymphotoxin beta receptor signaling61
9.1NFKBIA, IKBKG
349.1NFKBIA, IKBKG
35
Show member pathways
9.1NFKBIA, IKBKG
36
Show member pathways
Apoptosis and survival Anti apoptotic TNFs NF kB IAP pathway61
9.1IKBKG, NFKBIA
37
Show member pathways
9.1NFKBIA, IKBKG
38
Show member pathways
Transcription NF kB signaling pathway61
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response61
9.1IKBKG, NFKBIA
399.1NFKBIA, IKBKG
40
Show member pathways
9.1NFKBIA, IKBKG
419.1NFKBIA, IKBKG
42
Show member pathways
9.1IKBKG, NFKBIA
43
Show member pathways
9.1IKBKG, NFKBIA
44
Show member pathways
RANKL/RANK Signaling Pathway39
Apoptosis and survival APRIL and BAFF signaling61
9.1IKBKG, NFKBIA
45
Show member pathways
Immune response MIF in innate immunity response61
9.1NFKBIA, IKBKG
46
Show member pathways
9.1NFKBIA, IKBKG
479.1NFKBIA, IKBKG
48
Show member pathways
9.1IKBKG, NFKBIA
49
Show member pathways
9.1NFKBIA, IKBKG
509.1NFKBIA, IKBKG

Compounds for genes affiliated with Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

About this section
Sources:
46Novoseek, 52PharmGKB, 62Tocris Bioscience, 12DrugBank
See all sources

Compounds related to Hypohidrotic Ectodermal Dysplasia with Immune Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arginine469.1NFKBIA, IKBKG
2geldanamycin46 52 62 1211.8NFKBIA, IKBKG

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

About this section
Sources:
17Gene Ontology
See all sources

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of type I interferon productionGO:0324819.5NFKBIA, IKBKG
2toll-like receptor 10 signaling pathwayGO:0341669.5IKBKG, NFKBIA
3toll-like receptor 5 signaling pathwayGO:0341469.5IKBKG, NFKBIA
4toll-like receptor TLR1:TLR2 signaling pathwayGO:0381239.4NFKBIA, IKBKG
5toll-like receptor TLR6:TLR2 signaling pathwayGO:0381249.4NFKBIA, IKBKG
6toll-like receptor 9 signaling pathwayGO:0341629.4IKBKG, NFKBIA
7toll-like receptor 2 signaling pathwayGO:0341349.4NFKBIA, IKBKG
8TRIF-dependent toll-like receptor signaling pathwayGO:0356669.4NFKBIA, IKBKG
9MyD88-independent toll-like receptor signaling pathwayGO:0027569.4IKBKG, NFKBIA
10MyD88-dependent toll-like receptor signaling pathwayGO:0027559.4IKBKG, NFKBIA
11toll-like receptor 3 signaling pathwayGO:0341389.4IKBKG, NFKBIA
12T cell receptor signaling pathwayGO:0508529.3NFKBIA, IKBKG
13toll-like receptor 4 signaling pathwayGO:0341429.3NFKBIA, IKBKG
14toll-like receptor signaling pathwayGO:0022249.3IKBKG, NFKBIA
15positive regulation of NF-kappaB transcription factor activityGO:0510929.2NFKBIA, IKBKG
16Fc-epsilon receptor signaling pathwayGO:0380959.2IKBKG, NFKBIA
17viral processGO:0160329.1NFKBIA, IKBKG
18positive regulation of transcription from RNA polymerase II promoterGO:0459449.1NFKBIA, IKBKG
19apoptotic processGO:0069159.0NFKBIA, IKBKG
20innate immune responseGO:0450878.8NFKBIA, IKBKG

Products for genes affiliated with Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet