MCID: HYP208
MIFTS: 36

Hypohidrotic Ectodermal Dysplasia with Immune Deficiency malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Blood diseases, Immune diseases categories
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Summaries for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

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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 based summary: Hypohidrotic Ectodermal Dysplasia with Immune Deficiency, also known as ectodermal dysplasia, hypohidrotic, with immune deficiency, is related to hypohidrotic ectodermal dysplasia and ectodermal dysplasia, and has symptoms including 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.

Descriptions 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, 62UMLS, 48Orphanet, 26ICD10 via Orphanet
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Hypohidrotic Ectodermal Dysplasia with Immune Deficiency, Aliases & Descriptions:

Name: Hypohidrotic Ectodermal Dysplasia with Immune Deficiency 42 21
Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency 42 20 22 21 46 62
Hed-Id 42 21 48 62
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 62
Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 48
Anhidrotic Ectodermal Dysplasia with Immunodeficiency 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

ICD10 via Orphanet26 D82.8

Related Diseases for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

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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 dysplasia30.4IKBKG, NFKBIA
2ectodermal dysplasia30.4IKBKG, NFKBIA
3colitis10.4
4osteopetrosis10.3
5ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency10.2
6ipex syndrome9.9IKBKG, NFKBIA
7t-cell leukemia9.8IKBKG, 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

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Clinical features from OMIM:

300291,612132

HPO human phenotypes related to Hypohidrotic Ectodermal Dysplasia with Immune Deficiency:

id Description Frequency HPO Source Accession
1 ectodermal dysplasia HP:0000968
2 x-linked recessive inheritance HP:0001419
3 recurrent infections HP:0002719
4 dysgammaglobulinemia HP:0002961

Drugs & Therapeutics for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

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Drug clinical trials:

Search ClinicalTrials for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

Search NIH Clinical Center for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

Genetic Tests for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

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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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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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Variations for Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

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

64
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:

6 (show all 15)
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
11NFKBIANM_020529.2(NFKBIA): c.95G> T (p.Ser32Ile)single nucleotide variantPathogenicrs28933100GRCh37Chr 14, 35873756: 35873756
12NFKBIANM_020529.2(NFKBIA): c.32G> A (p.Trp11Ter)single nucleotide variantPathogenicrs121913664GRCh37Chr 14, 35873819: 35873819
13NFKBIANM_020529.2(NFKBIA): c.40G> T (p.Glu14Ter)single nucleotide variantPathogenicrs121913665GRCh37Chr 14, 35873811: 35873811
14IKBKGNM_003639.4(IKBKG): c.265_267delGAG (p.Glu89del)deletionLikely pathogenicrs386134238GRCh37Chr X, 153784457: 153784459
15IKBKGNM_003639.4(IKBKG): c.470A> C (p.Gln157Pro)single nucleotide variantLikely pathogenicrs386134240GRCh37Chr X, 153786817: 153786817

Expression for genes affiliated with Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

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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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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 events37
Immune response IL 10 signaling pathway60
Angiopoietin receptor Tie2-mediated signaling37
Development PDGF signaling via STATs and NF kB60
Development Angiopoietin Tie2 signaling60
9.1IKBKG, NFKBIA
4
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling60
Leptin signaling pathway37
9.1NFKBIA, IKBKG
5
Show member pathways
Development ERBB family signaling60
Development GDNF family signaling60
9.1NFKBIA, IKBKG
69.1IKBKG, NFKBIA
7
Show member pathways
9.1NFKBIA, IKBKG
89.1NFKBIA, IKBKG
9
Show member pathways
Apoptosis Modulation and Signaling37
Apoptosis37
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 pathway37
9.1NFKBIA, IKBKG
15
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways60
Immune response IL 1 signaling pathway60
9.1NFKBIA, IKBKG
16
Show member pathways
9.1IKBKG, NFKBIA
17
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells37
9.1NFKBIA, IKBKG
189.1NFKBIA, IKBKG
19
Show member pathways
Signaling Pathways in Glioblastoma37
9.1IKBKG, NFKBIA
20
Show member pathways
BCR signaling pathway37
TCR Signaling Pathway37
9.1NFKBIA, IKBKG
21
Show member pathways
Immune response T cell receptor signaling pathway60
Immune response CD28 signaling60
Immune response ICOS pathway in T helper cell60
9.1NFKBIA, IKBKG
229.1NFKBIA, IKBKG
23
Show member pathways
Apoptosis and survival TNFR1 signaling pathway60
TWEAK Signaling Pathway37
Apoptosis Modulation by HSP7037
HIV-1 Nef- Negative effector of Fas and TNF-alpha37
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 cascades60
9.1IKBKG, NFKBIA
33
Show member pathways
Apoptosis and survival Lymphotoxin beta receptor signaling60
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 pathway60
9.1IKBKG, NFKBIA
37
Show member pathways
9.1NFKBIA, IKBKG
38
Show member pathways
Transcription NF kB signaling pathway60
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response60
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 Pathway37
Apoptosis and survival APRIL and BAFF signaling60
9.1IKBKG, NFKBIA
45
Show member pathways
Immune response MIF in innate immunity response60
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

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

idCompoundScoreTop Affiliating Genes
1arginine449.1NFKBIA, IKBKG
2geldanamycin44 50 61 1111.8NFKBIA, IKBKG

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

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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

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet