EDA
MCID: HYP013
MIFTS: 63

Hypohidrotic Ectodermal Dysplasia (EDA) malady

Genetic diseases, Rare diseases categories
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Summaries for Hypohidrotic Ectodermal Dysplasia

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NIH Rare Diseases:42 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 based summary: 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 EDA (ectodysplasin A), and among its related pathways are Canonical NF-kappaB pathway and IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation. 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...

Descriptions from OMIM:46 305100,224900,129490,300291

GeneReviews summary for x-hed

Aliases & Classifications for Hypohidrotic Ectodermal Dysplasia

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Hypohidrotic Ectodermal Dysplasia, Aliases & Descriptions:

Name: Hypohidrotic Ectodermal Dysplasia 8 19 42 21 10 62
Christ-Siemens-Touraine Syndrome 8 19 42 21 62
Ectodermal Dysplasia, Hypohidrotic 42 20 22 44
Hypohidrotic Ectodermal Dysplasia X-Linked 42 20 22
Anhidrotic Ectodermal Dysplasia 19 42 21
Cst Syndrome 42 21 62
Hed 42 21 62
Hypohidrotic X-Linked Ectodermal Dysplasia 8 62
Eda 42 62
 
Ectodermal Dysplasia, Hypohidrotic, X-Linked 62
X-Linked Hypohidrotic Ectodermal Dysplasia 42
Anhidrotic Ectodermal Dysplasia X-Linked 42
Ectodermal Dysplasia 1, Anhydrotic 8
Ectodermal Dysplasia 3, Anhidrotic 62
Anhidrotic Ectodermal Dysplasia 3 8
Ectodermal Dysplasia Anhidrotic 42
Ectodermal Dysplasia 1 42
Xhed 42


Classifications:

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


External Ids:

Disease Ontology8 DOID:14793
NCIt39 C84562

Related Diseases for Hypohidrotic Ectodermal Dysplasia

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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 86)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia31.7EDA2R, EDA, EDAR, IKBKG, PKP1, TRAF6
2tooth agenesis31.2EDARADD
3alopecia30.7IKBKG, EDA2R
4hypohidrosis30.0EDA, EDARADD, EDAR, TAB2
5anodontia10.8
6immunodeficiency without anhidrotic ectodermal dysplasia10.7
7hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia10.7
8hypohidrotic ectodermal dysplasia with immune deficiency10.7
9ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.6
10ectodermal dysplasia 1, hypohidrotic, x-linked10.6
11hypothyroidism10.5
12hypohidrotic ectodermal dysplasia autosomal recessive10.5
13hypohidrotic ectodermal dysplasia, autosomal10.5
14ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency10.5
15vitiligo10.5
16tooth agenesis, selective, x-linked, 110.5
17osteopetrosis10.4
18hypohidrotic ectodermal dysplasia autosomal dominant10.4
19ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive10.4
20immunodeficiency 3310.4
21rapp-hodgkin syndrome10.4
22keratoderma10.4
23cataract10.3
24cystic fibrosis10.3
25keratoconus10.3
26lymphedema10.3
27x-linked ichthyosis10.3
28sudden infant death syndrome10.3
29atrophic rhinitis10.3
30nasopharyngitis10.3
31anhidrosis10.3
32melanoma10.3
33myiasis10.3
34neuroblastoma10.3
35panuveitis10.3
36rhabdomyosarcoma10.3
37rhinitis10.3
38agenesis of the corpus callosum10.3
39lelis syndrome10.3
40taurodontism10.3
41viljoen winship syndrome10.3
42dysphagia10.3
43ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive10.3
44ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant10.3
45mitral valve prolapse10.3
46miliary tuberculosis10.3
47bronchial disease10.3
48colitis10.3
49hypotrichosis10.3
50transient hypogammaglobulinemia10.3

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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Clinical features from OMIM:

305100,224900,129490,300291

Drugs & Therapeutics for Hypohidrotic Ectodermal Dysplasia

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Drug clinical trials:

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Search NIH Clinical Center for Hypohidrotic Ectodermal Dysplasia

Genetic Tests for Hypohidrotic Ectodermal Dysplasia

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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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MalaCards organs/tissues related to Hypohidrotic Ectodermal Dysplasia:

32
Skin, Bone, Brain, Testes, Eye, Salivary gland, Trachea

Animal Models for Hypohidrotic Ectodermal Dysplasia or affiliated genes

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Publications for Hypohidrotic Ectodermal Dysplasia

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Articles related to Hypohidrotic Ectodermal Dysplasia:

(show top 50)    (show all 285)
idTitleAuthorsYear
1
One Mutation of the ED1 Gene in a Chinese Han Family with X-Linked Hypohidrotic Ectodermal Dysplasia. (24648697)
2014
2
A retrospective 3- to 5-year study of the reconstruction of oral function using implant-supported prostheses in patients with hypohidrotic ectodermal dysplasia. (25295888)
2014
3
Hereditary hypohidrotic ectodermal dysplasia: report of a rare case. (24179947)
2013
4
Functional studies for the TRAF6 mutation associated with hypohidrotic ectodermal dysplasia. (22924441)
2013
5
A novel mutation in the ED1 gene in a patient with X-linked hypohidrotic ectodermal dysplasia. (22835214)
2013
6
Hypohidrotic ectodermal dysplasia. (23130287)
2012
7
Psychoeducational characteristics of children with hypohidrotic ectodermal dysplasia. (22536143)
2012
8
Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family. (22008666)
2012
9
Hypohidrotic ectodermal dysplasia: a multidisciplinary approach. (23586278)
2012
10
Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia. (21771270)
2011
11
Overdenture restoration in a growing patient with hypohidrotic ectodermal dysplasia: a clinical report. (21465010)
2011
12
Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations. (21457804)
2011
13
A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene. (22013926)
2011
14
Quantification of taurodontism: interests in the early diagnosis of hypohidrotic ectodermal dysplasia. (20374512)
2010
15
X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings. (20236127)
2010
16
Higher-than-expected prevalence of hypohidrotic ectodermal dysplasia in a rural Mexican setting: report of 20 cases. (20883269)
2010
17
A novel frameshift mutation of the EDA1 gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia. (18702659)
2009
18
Successful umbilical cord blood transplantation for intractable eczematous eruption in hypohidrotic ectodermal dysplasia with immunodeficiency. (19663838)
2009
19
Oral rehabilitation of adult twins with severe lack of bone due to hypohidrotic ectodermal dysplasia--a 12-month follow-up. (19070767)
2009
20
Mutation screening of the ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. (18231121)
2008
21
A novel 22-bp deletion mutation in a Chinese family with X-linked hypohidrotic ectodermal dysplasia. (18427821)
2008
22
Hypohidrotic ectodermal dysplasia. (19061621)
2008
23
A novel 4-bp insertion mutation in EDA1 gene in a Pakistani family with X-linked hypohidrotic ectodermal dysplasia. (17478381)
2007
24
Should we consider hypohidrotic ectodermal dysplasia as a possible risk factor for malignant melanoma? (17942030)
2007
25
Genetical diagnosis in a family with X-linked hypohidrotic ectodermal dysplasia]. (17536268)
2007
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
A genetic study of anodontia in X-linked hypohidrotic ectodermal dysplasia. (7446529)
1980
49
Hypohidrotic ectodermal dysplasia: a case report. (292770)
1979
50
Brain damage as a consequence of unrecognised hypohidrotic ectodermal dysplasia. (5146403)
1971

Variations for Hypohidrotic Ectodermal Dysplasia

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Clinvar genetic disease variations for Hypohidrotic Ectodermal Dysplasia:

6 (show all 25)
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
13EDANM_001399.4(EDA): c.272dupG (p.Ser91Argfs)duplicationPathogenicrs397516656GRCh37Chr X, 68836424: 68836425
14EDANM_001399.4(EDA): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs397516659GRCh37Chr X, 68836154: 68836154
15EDANM_001399.4(EDA): c.329C> A (p.Ser110Ter)single nucleotide variantPathogenicrs397516660GRCh37Chr X, 68836481: 68836481
16EDANM_001399.4(EDA): c.347T> A (p.Leu116Ter)single nucleotide variantPathogenicrs397516661GRCh37Chr X, 68836499: 68836499
17EDANM_001399.4(EDA): c.546_581del36 (p.Asn185_Pro196del)deletionPathogenicrs397516665GRCh37Chr X, 69247726: 69247761
18EDANM_001399.4(EDA): c.553_588del36 (p.Asn185_Pro196del)deletionPathogenicrs397516666GRCh37Chr X, 69247733: 69247768
19EDANM_001399.4(EDA): c.562_589del28 (p.Pro188Argfs)deletionPathogenicrs397516667GRCh37Chr X, 69247742: 69247769
20EDANM_001399.4(EDA): c.572_589del18 (p.Pro191_Pro196del)deletionPathogenicrs397516668GRCh37Chr X, 69247752: 69247769
21EDANM_001399.4(EDA): c.663_697del35 (p.Pro222Thrfs)deletionPathogenicrs397516670GRCh37Chr X, 69247843: 69247877
22EDANM_001399.4(EDA): c.730C> T (p.Arg244Ter)single nucleotide variantPathogenicrs397516672GRCh37Chr X, 69249377: 69249377
23EDANM_001399.4(EDA): c.822delG (p.Trp274Cysfs)deletionPathogenicrs397516676GRCh37Chr X, 69253276: 69253276
24EDANM_001399.4(EDA): c.871G> A (p.Gly291Arg)single nucleotide variantPathogenicrs397516677GRCh37Chr X, 69253325: 69253325
25EDANM_001399.4(EDA): c.961G> T (p.Glu321Ter)single nucleotide variantPathogenicrs397516682GRCh37Chr X, 69255244: 69255244

Expression for genes affiliated with Hypohidrotic Ectodermal Dysplasia

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Expression patterns in normal tissues for genes affiliated with Hypohidrotic Ectodermal Dysplasia

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Pathways for genes affiliated with Hypohidrotic Ectodermal Dysplasia

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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
19.8IKBKG, TRAF6
2
Show member pathways
9.8TRAF6, IKBKG
3
Show member pathways
TCR signaling in naive CD8+ T cells37
9.8TRAF6, IKBKG
4
Show member pathways
Apoptosis and survival Anti apoptotic TNFs NF kB IAP pathway60
9.8TRAF6, IKBKG
59.6MAP3K7, IKBKG
69.6IKBKG, MAP3K7
79.6IKBKG, MAP3K7
89.4MAP3K7, TAB2
99.4TAB2, MAP3K7
10
Show member pathways
9.3FURIN, IKBKG, TRAF6
11
Show member pathways
Alternative NF-kappaB pathway37
9.3TRAF6, TAB2, IKBKG
129.3TRAF6, MAP3K7, IKBKG
13
Show member pathways
9.3TRAF6, MAP3K7, IKBKG
14
Show member pathways
9.3TRAF6, MAP3K7, IKBKG
15
Show member pathways
9.3TRAF6, MAP3K7, IKBKG
16
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
9.3TRAF6, MAP3K7, IKBKG
17
Show member pathways
BCR signaling pathway37
TCR Signaling Pathway37
9.3TRAF6, MAP3K7, IKBKG
18
Show member pathways
9.3TRAF6, MAP3K7, IKBKG
19
Show member pathways
9.3IKBKG, MAP3K7, TRAF6
20
Show member pathways
9.3IKBKG, MAP3K7, TRAF6
219.1IKBKG, MAP3K7, TAB2
22
Show member pathways
p38 MAPK signaling pathway37
9.1MAP3K7, TAB2, TRAF6
23
Show member pathways
9.1TRAF6, TAB2, MAP3K7
24
Show member pathways
8.7TNFRSF19, EDAR, EDA, EDA2R
25
Show member pathways
MAPK signaling pathway37
8.7IKBKG, MAP3K7, TAB2, TRAF6
26
Show member pathways
8.7IKBKG, MAP3K7, TAB2, TRAF6
27
Show member pathways
Toll-like receptor signaling pathway37
Regulation of toll-like receptor signaling pathway37
8.7IKBKG, MAP3K7, TAB2, TRAF6
288.7IKBKG, MAP3K7, TAB2, TRAF6
29
Show member pathways
Immune response MIF in innate immunity response60
8.7IKBKG, MAP3K7, TAB2, TRAF6
30
Show member pathways
8.7IKBKG, MAP3K7, TAB2, TRAF6
318.7IKBKG, MAP3K7, TAB2, TRAF6
32
Show member pathways
8.7IKBKG, MAP3K7, TAB2, TRAF6
33
Show member pathways
IL-1 Signaling Pathway37
IL1-mediated signaling events37
8.7IKBKG, MAP3K7, TAB2, TRAF6
34
Show member pathways
8.7IKBKG, 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
8.7IKBKG, MAP3K7, TAB2, TRAF6
36
Show member pathways
8.7IKBKG, MAP3K7, TAB2, TRAF6
37
Show member pathways
8.7IKBKG, MAP3K7, TAB2, TRAF6
38
Show member pathways
8.7IKBKG, MAP3K7, TAB2, TRAF6
398.7IKBKG, MAP3K7, TAB2, TRAF6
40
Show member pathways
8.7IKBKG, MAP3K7, TAB2, TRAF6
41
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
8.7IKBKG, MAP3K7, TAB2, TRAF6
42
Show member pathways
8.7IKBKG, MAP3K7, TAB2, TRAF6
438.7IKBKG, MAP3K7, TAB2, TRAF6
44
Show member pathways
8.7IKBKG, MAP3K7, TAB2, TRAF6
45
Show member pathways
8.7TRAF6, TAB2, MAP3K7, IKBKG
46
Show member pathways
RANKL/RANK Signaling Pathway37
Apoptosis and survival APRIL and BAFF signaling60
8.7TRAF6, TAB2, MAP3K7, IKBKG
47
Show member pathways
8.4IKBKG, TNFRSF19, EDAR, EDA, EDA2R
48
Show member pathways
8.3FURIN, IKBKG, MAP3K7, TAB2, TRAF6
49
Show member pathways
8.1TRAF6, MAP3K7, IKBKG, TNFRSF19, EDAR

Compounds for genes affiliated with Hypohidrotic Ectodermal Dysplasia

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Sources:
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Compounds related to Hypohidrotic Ectodermal Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tab-1449.1TRAF6, TAB2, MAP3K7
2tab-2448.8TRAF6, TAB2, MAP3K7

GO Terms for genes affiliated with Hypohidrotic Ectodermal Dysplasia

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

idNameGO IDScoreTop Affiliating Genes
1IkappaB kinase complexGO:0083859.5MAP3K7, IKBKG
2endosome membraneGO:0100088.8TRAF6, TAB2, MAP3K7
3plasma membraneGO:0058867.6EDAR, FURIN, PKP1, MAP3K7, TAB2, TRAF6

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:04347310.0EDAR, 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
11cell differentiationGO:0301549.5EDAR, EDARADD, EDA, EDA2R
12positive regulation of JUN kinase activityGO:0435079.5TRAF6, MAP3K7
13hair follicle developmentGO:0019429.4TNFRSF19, EDAR, EDARADD
14nucleotide-binding oligomerization domain containing signaling pathwayGO:0704239.1IKBKG, MAP3K7, TAB2, TRAF6
15nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358729.1IKBKG, MAP3K7, TAB2, TRAF6
16I-kappaB kinase/NF-kappaB signalingGO:0072499.1IKBKG, MAP3K7, TAB2, TRAF6
17stress-activated MAPK cascadeGO:0514039.1IKBKG, 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:0022249.0IKBKG, 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:0450878.7IKBKG, 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:0072548.3TNFRSF19, IKBKG, MAP3K7, TAB2, TRAF6
38positive regulation of I-kappaB kinase/NF-kappaB signalingGO:0431238.1EDA, 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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Sources for Hypohidrotic Ectodermal Dysplasia

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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