EDA
MCID: HYP013
MIFTS: 62

Hypohidrotic Ectodermal Dysplasia (EDA) malady

Genetic diseases, Rare diseases categories
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Summaries for Hypohidrotic Ectodermal Dysplasia

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Hypohidrotic ectodermal dysplasia (hed) is a genetic skin disease. common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. hed is caused by mutations in the eda, edar, or edaradd genes. it may be inherited in an x-linked recessive, autosomal recessive, or autosomal dominant manner depending on the genetic cause of the condition. the x-linked form is the most common form. the forms have similar signs and symptoms, however the the autosomal dominant form tends to be the mildest. treatment of hypohidrotic ectodermal dysplasia may include special hair care formulas or wigs, measures to prevent overheating, removal of ear and nose concretions, and dental evaluations and treatment (e.g., restorations, dental implants, or dentures). last updated: 1/21/2014

MalaCards: Hypohidrotic Ectodermal Dysplasia, also known as christ-siemens-touraine syndrome, is related to ectodermal dysplasia and tooth agenesis. An important gene associated with Hypohidrotic Ectodermal Dysplasia is EDARADD (EDAR-associated death domain), and among its related pathways are IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation and Canonical NF-kappaB pathway. The compounds tab-1 and tab-2 have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and brain, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Disease Ontology:8 A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).

Genetics Home Reference:21 Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands.

Wikipedia:65 Hypohidrotic ectodermal dysplasia (also known as \"Anhidrotic ectodermal dysplasia,\" and... more...

Description from OMIM:47 300291,224900,129490,305100

GeneReviews summary for x-hed

Aliases & Classifications for Hypohidrotic Ectodermal Dysplasia

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8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 62UMLS, 20GeneTests, 22GTR, 45Novoseek, 47OMIM, 40NCIt, 35MeSH, 58SNOMED-CT
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

hypohidrotic ectodermal dysplasia 8 19 43 21 10
christ-siemens-touraine syndrome 8 19 43 21 62
ectodermal dysplasia, hypohidrotic 43 20 22 45
hypohidrotic ectodermal dysplasia x-linked 43 20 22
anhidrotic ectodermal dysplasia 19 43 21
cst syndrome 43 21
hed 43 21
x-linked hypohidrotic ectodermal dysplasia 43
hypohidrotic x-linked ectodermal dysplasia 8
anhidrotic ectodermal dysplasia x-linked 43
ectodermal dysplasia 3, anhidrotic 62
ectodermal dysplasia 1, anhydrotic 8
anhidrotic ectodermal dysplasia 3 8
ectodermal dysplasia anhidrotic 43
ectodermal dysplasia 1 43
xhed 43
eda 43


External Ids:

Disease Ontology8 DOID:14793
NCIt40 C84562

Related Diseases for Hypohidrotic Ectodermal Dysplasia

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

(show top 50)    (show all 85)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia32.1EDA, EDAR, IKBKG, EDA2R, PKP1, TRAF6
2tooth agenesis30.8EDARADD
3hypohidrosis30.1EDA, EDARADD, EDAR, TAB2
4anodontia10.8
5hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia10.7
6immunodeficiency without anhidrotic ectodermal dysplasia10.7
7hypohidrotic ectodermal dysplasia with immune deficiency10.7
8ectodermal dysplasia 1, hypohidrotic, x-linked10.6
9hypothyroidism10.5
10hypohidrotic ectodermal dysplasia autosomal recessive10.5
11hypohidrotic ectodermal dysplasia, autosomal10.5
12ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.5
13ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency10.5
14ectodermal dysplasia 9, hair/nail type10.5
15osteopetrosis10.4
16hypohidrotic ectodermal dysplasia autosomal dominant10.4
17ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive10.4
18keratoderma10.4
19x-linked ichthyosis10.3
20cystic fibrosis10.3
21nasopharyngitis10.3
22anhidrosis10.3
23sudden infant death syndrome10.3
24atrophic rhinitis10.3
25cataract10.3
26keratoconus10.3
27lymphedema10.3
28melanoma10.3
29myiasis10.3
30neuroblastoma10.3
31panuveitis10.3
32rhabdomyosarcoma10.3
33rhinitis10.3
34lelis syndrome10.3
35taurodontism10.3
36viljoen winship syndrome10.3
37dysphagia10.3
38ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive10.3
39ectodermal dysplasia 11a, hypohidrotic/hair/tooth type10.3
40ectodermal dysplasia 4, hair/nail type10.3
41tooth agenesis, selective, x-linked, 110.3
42mitral valve prolapse10.3
43miliary tuberculosis10.3
44bronchial disease10.3
45hypotrichosis10.3
46transient hypogammaglobulinemia10.3
47tuberculosis10.3
48ankyloblepharon-ectodermal defects-cleft lip/palate syndrome10.3
49ameloonychohypohidrotic syndrome10.3
50book syndrome10.3

Graphical network of the top 20 diseases related to Hypohidrotic Ectodermal Dysplasia:



Diseases related to hypohidrotic ectodermal dysplasia

Symptoms for Hypohidrotic Ectodermal Dysplasia

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47OMIM
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Clinical features from OMIM:

300291,224900,129490,305100

Drugs & Therapeutics for Hypohidrotic Ectodermal Dysplasia

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Hypohidrotic Ectodermal Dysplasia

Search NIH Clinical Center for Hypohidrotic Ectodermal Dysplasia

Genetic Tests for Hypohidrotic Ectodermal Dysplasia

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

id Genetic test Affiliating Genes
1 Hypohidrotic Ectodermal Dysplasia20 22 EDARADD
2 Hypohidrotic Ectodermal Dysplasia, X-Linked20 EDA
3 Hypohidrotic X-Linked Ectodermal Dysplasia22

Anatomical Context for Hypohidrotic Ectodermal Dysplasia

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33MalaCards
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MalaCards organs/tissues related to Hypohidrotic Ectodermal Dysplasia:

33
Skin, Bone, Brain, Testes, Salivary gland, Trachea

Animal Models for Hypohidrotic Ectodermal Dysplasia or affiliated genes

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37MGI
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Publications for Hypohidrotic Ectodermal Dysplasia

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52PubMed
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Articles related to Hypohidrotic Ectodermal Dysplasia:

(show top 50)    (show all 264)
idTitleAuthorsYear
1
Hereditary hypohidrotic ectodermal dysplasia: report of a rare case. (24179947)
2013
2
Functional studies for the TRAF6 mutation associated with hypohidrotic ectodermal dysplasia. (22924441)
2013
3
A novel mutation in the ED1 gene in a patient with X-linked hypohidrotic ectodermal dysplasia. (22835214)
2013
4
Hypohidrotic ectodermal dysplasia. (23130287)
2012
5
Psychoeducational characteristics of children with hypohidrotic ectodermal dysplasia. (22536143)
2012
6
Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family. (22008666)
2012
7
Hypohidrotic ectodermal dysplasia: a multidisciplinary approach. (23586278)
2012
8
Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia. (21771270)
2011
9
Overdenture restoration in a growing patient with hypohidrotic ectodermal dysplasia: a clinical report. (21465010)
2011
10
Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations. (21457804)
2011
11
A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene. (22013926)
2011
12
Quantification of taurodontism: interests in the early diagnosis of hypohidrotic ectodermal dysplasia. (20374512)
2010
13
X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings. (20236127)
2010
14
Higher-than-expected prevalence of hypohidrotic ectodermal dysplasia in a rural Mexican setting: report of 20 cases. (20883269)
2010
15
A novel frameshift mutation of the EDA1 gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia. (18702659)
2009
16
Successful umbilical cord blood transplantation for intractable eczematous eruption in hypohidrotic ectodermal dysplasia with immunodeficiency. (19663838)
2009
17
Oral rehabilitation of adult twins with severe lack of bone due to hypohidrotic ectodermal dysplasia--a 12-month follow-up. (19070767)
2009
18
Mutation analysis of the eda-A1 gene for hypohidrotic ectodermal dysplasia and construction of recombined eukaryotic expression vector]. (20077893)
2009
19
Mutation screening of the ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. (18231121)
2008
20
A novel 22-bp deletion mutation in a Chinese family with X-linked hypohidrotic ectodermal dysplasia. (18427821)
2008
21
Hypohidrotic ectodermal dysplasia. (19061621)
2008
22
A novel 4-bp insertion mutation in EDA1 gene in a Pakistani family with X-linked hypohidrotic ectodermal dysplasia. (17478381)
2007
23
Should we consider hypohidrotic ectodermal dysplasia as a possible risk factor for malignant melanoma? (17942030)
2007
24
Genetical diagnosis in a family with X-linked hypohidrotic ectodermal dysplasia]. (17536268)
2007
25
Hypohidrotic ectodermal dysplasia (HED). (16441993)
2006
26
Hypohidrotic ectodermal dysplasia with bilateral impacted teeth at the coronoid process: a case rehabilitated with mini dental implants. (15829868)
2005
27
Fixed rehabilitation of a patient with hypohidrotic ectodermal dysplasia using zygomatic implants. (15316542)
2004
28
Craniofacial anthropometric pattern profile in hypohidrotic ectodermal dysplasia--application in detection of gene carriers. (14746168)
2003
29
A frameshift mutation of the ED1 gene in sibling cases with X-linked hypohidrotic ectodermal dysplasia. (12920369)
2003
30
Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasia. (12225002)
2002
31
Hypohidrotic ectodermal dysplasia associated with squamous cell carcinoma of the trachea. (12437816)
2002
32
Hypohidrotic ectodermal dysplasia with tibial aplasia. (12072795)
2002
33
Hypohidrotic ectodermal dysplasia: dental, clinical, genetic and dermatoglyphic findings of three cases. (11688814)
2001
34
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). (11047757)
2000
35
Hypohidrotic ectodermal dysplasia--a case report. (10863497)
1999
36
Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13. (9973304)
1999
37
Craniofacial changes following early prosthetic treatment in a case of hypohidrotic ectodermal dysplasia with complete anodontia. (9617452)
1998
38
Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. (9245989)
1997
39
Mosaic expression of hypohidrotic ectodermal dysplasia in an isolated affected female child. (7979445)
1994
40
Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia. (1865470)
1991
41
Autosomal recessive inheritance of hypohidrotic ectodermal dysplasia. (2247394)
1990
42
Hypohidrotic ectodermal dysplasia. (2247393)
1990
43
Improved definition of carrier status in X-linked hypohidrotic ectodermal dysplasia by use of restriction fragment length polymorphism-based linkage analysis. (2564048)
1989
44
Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation. (3398005)
1988
45
Expression of X-linked hypohidrotic ectodermal dysplasia in six males and in their mothers. (4042395)
1985
46
Dysphagia in hypohidrotic ectodermal dysplasia. A case report. (6463801)
1984
47
A dental approach to carrier screening in X linked hypohidrotic ectodermal dysplasia. (7334506)
1981
48
Hypohidrotic ectodermal dysplasia: a case report. (292770)
1979
49
Autosomal recessive hypohidrotic ectodermal dysplasia: dental manifestations. (4502148)
1972
50
Brain damage as a consequence of unrecognised hypohidrotic ectodermal dysplasia. (5146403)
1971

Variations for Hypohidrotic Ectodermal Dysplasia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hypohidrotic Ectodermal Dysplasia:

1 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1EDANM_001399.4(EDA): c.181T> C (p.Tyr61His)single nucleotide variantPathogenicrs132630308GRCh37Chr X, 68836333: 68836333
2EDANM_001399.4(EDA): c.206G> T (p.Arg69Leu)single nucleotide variantPathogenicrs132630309GRCh37Chr X, 68836358: 68836358
3EDANM_001399.4(EDA): c.67C> T (p.Gln23Ter)single nucleotide variantPathogenicrs132630310GRCh37Chr X, 68836219: 68836219
4EDANM_001399.4(EDA): c.187G> A (p.Glu63Lys)single nucleotide variantPathogenicrs132630311GRCh37Chr X, 68836339: 68836339
5EDANM_001399.4(EDA): c.463C> T (p.Arg155Cys)single nucleotide variantPathogenicrs132630312GRCh37Chr X, 69176943: 69176943
6EDANM_001399.4(EDA): c.466C> T (p.Arg156Cys)single nucleotide variantPathogenicrs132630313GRCh37Chr X, 69176946: 69176946
7EDANM_001399.4(EDA): c.467G> A (p.Arg156His)single nucleotide variantPathogenicrs132630314GRCh37Chr X, 69176947: 69176947
8EDANM_001399.4(EDA): c.626C> T (p.Pro209Leu)single nucleotide variantPathogenicrs132630315GRCh37Chr X, 69247806: 69247806
9EDANM_001399.4(EDA): c.671G> C (p.Gly224Ala)single nucleotide variantPathogenicrs132630316GRCh37Chr X, 69247851: 69247851
10EDANM_001399.4(EDA): c.1045G> A (p.Ala349Thr)single nucleotide variantPathogenicrs132630317GRCh37Chr X, 69255328: 69255328
11EDANM_001399.4(EDA): c.183C> G (p.Tyr61Ter)single nucleotide variantPathogenicrs132630318GRCh37Chr X, 68836335: 68836335
12EDANM_001399.4(EDA): c.826C> T (p.Arg276Cys)single nucleotide variantPathogenicrs387907197GRCh37Chr X, 69253280: 69253280

Expression for genes affiliated with Hypohidrotic Ectodermal Dysplasia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypohidrotic Ectodermal Dysplasia

Search GEO for disease gene expression data for Hypohidrotic Ectodermal Dysplasia.

Pathways for genes affiliated with Hypohidrotic Ectodermal Dysplasia

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50PathCards, 55Reactome, 38NCBI BioSystems Database, 60Thomson Reuters, 53QIAGEN, 5Cell Signaling Technology, 30KEGG, 54R&D Systems, 57SinoBiological
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Pathways related to Hypohidrotic Ectodermal Dysplasia according to GeneCards/GeneDecks:

(show all 49)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8TRAF6, IKBKG
29.8IKBKG, TRAF6
3
Show member pathways
TCR signaling in naive CD8+ T cells38
9.8TRAF6, IKBKG
4
Show member pathways
Apoptosis and survival Anti apoptotic TNFs NF kB IAP pathway60
9.8TRAF6, IKBKG
59.7MAP3K7, IKBKG
69.7IKBKG, MAP3K7
79.7IKBKG, MAP3K7
89.4TAB2, MAP3K7
99.4MAP3K7, TAB2
10
Show member pathways
9.3FURIN, IKBKG, TRAF6
11
Show member pathways
Alternative NF-kappaB pathway38
9.3TRAF6, TAB2, IKBKG
12
Show member pathways
9.3IKBKG, MAP3K7, TRAF6
13
Show member pathways
9.3IKBKG, MAP3K7, TRAF6
14
Show member pathways
9.3TRAF6, MAP3K7, IKBKG
159.3TRAF6, MAP3K7, IKBKG
16
Show member pathways
9.3TRAF6, MAP3K7, IKBKG
17
Show member pathways
Apoptosis and survival TNFR1 signaling pathway60
TWEAK Signaling Pathway38
Apoptosis Modulation by HSP7038
HIV-1 Nef- Negative effector of Fas and TNF-alpha38
9.3TRAF6, MAP3K7, IKBKG
18
Show member pathways
BCR signaling pathway38
TCR Signaling Pathway38
9.3TRAF6, MAP3K7, IKBKG
19
Show member pathways
9.3TRAF6, MAP3K7, IKBKG
20
Show member pathways
9.3TRAF6, MAP3K7, IKBKG
219.1IKBKG, MAP3K7, TAB2
22
Show member pathways
p38 MAPK signaling pathway38
9.1MAP3K7, TAB2, TRAF6
23
Show member pathways
9.1TRAF6, TAB2, MAP3K7
24
Show member pathways
8.8IKBKG, MAP3K7, TAB2, TRAF6
25
Show member pathways
8.8IKBKG, MAP3K7, TAB2, TRAF6
26
Show member pathways
MAPK signaling pathway38
8.8IKBKG, MAP3K7, TAB2, TRAF6
27
Show member pathways
Toll-like receptor signaling pathway38
Regulation of toll-like receptor signaling pathway38
8.8IKBKG, MAP3K7, TAB2, TRAF6
288.8IKBKG, MAP3K7, TAB2, TRAF6
29
Show member pathways
Immune response MIF in innate immunity response60
8.8IKBKG, MAP3K7, TAB2, TRAF6
30
Show member pathways
8.8IKBKG, MAP3K7, TAB2, TRAF6
318.8IKBKG, MAP3K7, TAB2, TRAF6
32
Show member pathways
8.8IKBKG, MAP3K7, TAB2, TRAF6
33
Show member pathways
IL-1 Signaling Pathway38
IL1-mediated signaling events38
8.8IKBKG, MAP3K7, TAB2, TRAF6
34
Show member pathways
8.8IKBKG, MAP3K7, TAB2, TRAF6
35
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
8.8IKBKG, MAP3K7, TAB2, TRAF6
36
Show member pathways
8.8IKBKG, MAP3K7, TAB2, TRAF6
37
Show member pathways
8.8IKBKG, MAP3K7, TAB2, TRAF6
38
Show member pathways
8.8IKBKG, MAP3K7, TAB2, TRAF6
39
Show member pathways
8.8IKBKG, MAP3K7, TAB2, TRAF6
40
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
8.8IKBKG, MAP3K7, TAB2, TRAF6
418.8IKBKG, MAP3K7, TAB2, TRAF6
42
Show member pathways
8.8IKBKG, MAP3K7, TAB2, TRAF6
438.8IKBKG, MAP3K7, TAB2, TRAF6
44
Show member pathways
8.8TRAF6, TAB2, MAP3K7, IKBKG
45
Show member pathways
RANKL/RANK Signaling Pathway38
Apoptosis and survival APRIL and BAFF signaling60
8.8TRAF6, TAB2, MAP3K7, IKBKG
46
Show member pathways
8.7TNFRSF19, EDAR, EDA, EDA2R
47
Show member pathways
8.4IKBKG, TNFRSF19, EDAR, EDA, EDA2R
48
Show member pathways
8.3FURIN, IKBKG, MAP3K7, TAB2, TRAF6
49
Show member pathways
8.2TRAF6, MAP3K7, IKBKG, TNFRSF19, EDAR

Compounds for genes affiliated with Hypohidrotic Ectodermal Dysplasia

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45Novoseek
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Compounds related to Hypohidrotic Ectodermal Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tab-1459.1TRAF6, TAB2, MAP3K7
2tab-2458.8TRAF6, TAB2, MAP3K7

GO Terms for genes affiliated with Hypohidrotic Ectodermal Dysplasia

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16Gene Ontology
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Cellular components related to Hypohidrotic Ectodermal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1IkappaB kinase complexGO:0083859.6IKBKG, MAP3K7
2endosome membraneGO:0100088.8MAP3K7, TAB2, TRAF6
3plasma membraneGO:0058867.6EDA, EDAR, FURIN, PKP1, MAP3K7, TAB2

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

(show all 38)
idNameGO IDScoreTop Affiliating Genes
1trachea gland developmentGO:06115310.2EDARADD, EDA
2salivary gland cavitationGO:06066210.1EDA, EDAR
3positive regulation of NF-kappaB import into nucleusGO:04234610.0EDAR, EDA
4pigmentationGO:0434739.9EDAR, EDA
5positive regulation of T cell cytokine productionGO:0027269.8TRAF6, MAP3K7
6positive regulation of interleukin-2 productionGO:0327439.8MAP3K7, TRAF6
7positive regulation of T cell activationGO:0508709.7TRAF6, MAP3K7
8odontogenesis of dentin-containing toothGO:0424759.6EDA, EDARADD, EDAR, TRAF6
9positive regulation of JNK cascadeGO:0463309.6MAP3K7, EDA2R
10activation of NF-kappaB-inducing kinase activityGO:0072509.6TRAF6, MAP3K7, IKBKG
11positive regulation of JUN kinase activityGO:0435079.5TRAF6, MAP3K7
12cell differentiationGO:0301549.5EDAR, EDARADD, EDA, EDA2R
13hair follicle developmentGO:0019429.4TNFRSF19, EDAR, EDARADD
14nucleotide-binding oligomerization domain containing signaling pathwayGO:0704239.2IKBKG, MAP3K7, TAB2, TRAF6
15nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358729.2IKBKG, MAP3K7, TAB2, TRAF6
16I-kappaB kinase/NF-kappaB signalingGO:0072499.2IKBKG, MAP3K7, TAB2, TRAF6
17stress-activated MAPK cascadeGO:0514039.2IKBKG, MAP3K7, TAB2, TRAF6
18toll-like receptor 10 signaling pathwayGO:0341669.1IKBKG, MAP3K7, TAB2, TRAF6
19toll-like receptor 5 signaling pathwayGO:0341469.1IKBKG, MAP3K7, TAB2, TRAF6
20toll-like receptor TLR6:TLR2 signaling pathwayGO:0381249.1IKBKG, MAP3K7, TAB2, TRAF6
21toll-like receptor TLR1:TLR2 signaling pathwayGO:0381239.1IKBKG, MAP3K7, TAB2, TRAF6
22toll-like receptor 9 signaling pathwayGO:0341629.1IKBKG, MAP3K7, TAB2, TRAF6
23toll-like receptor 2 signaling pathwayGO:0341349.1IKBKG, MAP3K7, TAB2, TRAF6
24TRIF-dependent toll-like receptor signaling pathwayGO:0356669.1IKBKG, MAP3K7, TAB2, TRAF6
25MyD88-independent toll-like receptor signaling pathwayGO:0027569.1IKBKG, MAP3K7, TAB2, TRAF6
26MyD88-dependent toll-like receptor signaling pathwayGO:0027559.1IKBKG, MAP3K7, TAB2, TRAF6
27toll-like receptor 3 signaling pathwayGO:0341389.1IKBKG, MAP3K7, TAB2, TRAF6
28T cell receptor signaling pathwayGO:0508529.1IKBKG, MAP3K7, TAB2, TRAF6
29activation of MAPK activityGO:0001879.1TRAF6, TAB2, MAP3K7, IKBKG
30toll-like receptor 4 signaling pathwayGO:0341429.1IKBKG, MAP3K7, TAB2, TRAF6
31toll-like receptor signaling pathwayGO:0022249.1IKBKG, MAP3K7, TAB2, TRAF6
32Fc-epsilon receptor signaling pathwayGO:0380959.0IKBKG, MAP3K7, TAB2, TRAF6
33tumor necrosis factor-mediated signaling pathwayGO:0332099.0TNFRSF19, EDA2R
34innate immune responseGO:0450878.8IKBKG, MAP3K7, TAB2, TRAF6
35positive regulation of NF-kappaB transcription factor activityGO:0510928.5TRAF6, TAB2, MAP3K7, IKBKG, EDA, EDA2R
36apoptotic processGO:0069158.4EDAR, TNFRSF19, IKBKG, PKP1, MAP3K7
37JNK cascadeGO:0072548.4TNFRSF19, IKBKG, MAP3K7, TAB2, TRAF6
38positive regulation of I-kappaB kinase/NF-kappaB signalingGO:0431238.0EDA, TNFRSF19, IKBKG, MAP3K7, TAB2, TRAF6

Molecular functions related to Hypohidrotic Ectodermal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tumor necrosis factor-activated receptor activityGO:0050319.0TNFRSF19, EDA2R
2protein bindingGO:0055157.4EDA, EDAR, IKBKG, PKP1, MAP3K7, TAB2

Products for genes affiliated with Hypohidrotic Ectodermal Dysplasia

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  • Antibodies
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  • Lysates
  • Antibodies

Sources for Hypohidrotic Ectodermal Dysplasia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet