HED
MCID: HYP013
MIFTS: 58

Hypohidrotic Ectodermal Dysplasia (HED) malady

Summaries for Hypohidrotic Ectodermal Dysplasia

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Hypohidrotic Ectodermal Dysplasia, also known as christ-siemens-touraine syndrome, is related to anodontia and hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia. 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 Immune response TLR3 and TLR4 induce TICAM1-specific signaling pathway. The compounds tab-1 and tab-2 have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and testes, 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:63 Hypohidrotic ectodermal dysplasia (also known as \"Anhidrotic ectodermal dysplasia,\" and... more...

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

GeneReviews summary for x-hed

Aliases & Classifications for Hypohidrotic Ectodermal Dysplasia

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT, 46OMIM, 39NCIt
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Aliases & Descriptions:

hypohidrotic ectodermal dysplasia 8 19 42 21 10
christ-siemens-touraine syndrome 8 19 42 21 60
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
hypohidrotic x-linked ectodermal dysplasia 8
x-linked hypohidrotic ectodermal dysplasia 42
anhidrotic ectodermal dysplasia x-linked 42
ectodermal dysplasia 3, anhidrotic 60
ectodermal dysplasia 1, anhydrotic 8
anhidrotic ectodermal dysplasia 3 8
ectodermal dysplasia anhidrotic 42
ectodermal dysplasia 1 42
xhed 42
hed 21


External Ids:

Disease Ontology8 DOID:14793
NCIt39 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 68)
idRelated DiseaseScoreTop Affiliating Genes
1anodontia10.8
2hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia10.7
3immunodeficiency without anhidrotic ectodermal dysplasia10.7
4hypohidrotic ectodermal dysplasia with immune deficiency10.6
5ectodermal dysplasia 1, hypohidrotic, x-linked10.5
6hypothyroidism10.5
7hypohidrotic ectodermal dysplasia autosomal recessive10.5
8hypohidrotic ectodermal dysplasia, autosomal10.5
9ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.5
10ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency10.5
11ectodermal dysplasia 9, hair/nail type10.5
12osteopetrosis10.4
13hypohidrotic ectodermal dysplasia autosomal dominant10.4
14ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive10.4
15x-linked disease10.4
16bone fracture10.2
17cystic fibrosis10.2
18x-linked ichthyosis10.2
19anhidrosis10.2
20sudden infant death syndrome10.2
21atrophic rhinitis10.2
22nasopharyngitis10.2
23trachea squamous cell carcinoma10.2
24alopecia10.2
25cataract10.2
26keratoconus10.2
27lymphedema10.2
28melanoma10.2
29myiasis10.2
30neuroblastoma10.2
31panuveitis10.2
32rhabdomyosarcoma10.2
33rhinitis10.2
34squamous cell carcinoma10.2
35lelis syndrome10.2
36viljoen winship syndrome10.2
37ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive10.2
38ectodermal dysplasia 11a, hypohidrotic/hair/tooth type10.2
39ectodermal dysplasia 4, hair/nail type10.2
40mitral valve prolapse10.2
41miliary tuberculosis10.2
42bronchial disease10.2
43hypotrichosis10.2
44transient hypogammaglobulinemia10.2
45tuberculosis10.2
46ankyloblepharon-ectodermal defects-cleft lip/palate syndrome10.2
47ameloonychohypohidrotic syndrome10.2
48book syndrome10.2
49dermatopathia pigmentosa reticularis10.2
50dermoodontodysplasia10.2

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



Diseases related to hypohidrotic ectodermal dysplasia

Clinical Features for Hypohidrotic Ectodermal Dysplasia

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46OMIM
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Clinical features from OMIM:

224900,305100,129490,300291

Drugs & Therapeutics for Hypohidrotic Ectodermal Dysplasia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Hypohidrotic Ectodermal Dysplasia

Drug clinical trials:

Search ClinicalTrials for Hypohidrotic Ectodermal Dysplasia

Search NIH Clinical Center for Hypohidrotic Ectodermal Dysplasia

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Hypohidrotic Ectodermal Dysplasia:

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

Animal Models for Hypohidrotic Ectodermal Dysplasia or affiliated genes

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36MGI
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Publications for Hypohidrotic Ectodermal Dysplasia

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50PubMed
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Articles related to Hypohidrotic Ectodermal Dysplasia:

(show top 50)    (show all 274)
idTitleAuthorsYear
1
False-Negative Sweat Chloride Testing in a Child With Cystic Fibrosis and Undiagnosed Hypohidrotic Ectodermal Dysplasia. (24419263)
2014
2
Hypohidrotic ectodermal dysplasia. (23130287)
2012
3
Psychoeducational characteristics of children with hypohidrotic ectodermal dysplasia. (22536143)
2012
4
A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia. (22889853)
2012
5
Oral rehabilitation of a young patient with hypohidrotic ectodermal dysplasia: A clinical report. (22629063)
2012
6
Orofacial features of hypohidrotic ectodermal dysplasia. (22421994)
2012
7
Detection of ED1 gene mutations in six pedigrees with hypohidrotic ectodermal dysplasia]. (22875504)
2012
8
Ceramide profile in hypohidrotic ectodermal dysplasia. (22299720)
2012
9
A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene. (22013926)
2011
10
Total anodontia in patient with hypohidrotic ectodermal dysplasia. Report of rare case of Christ-Siemens Touraine syndrome. (21417166)
2011
11
Quantification of taurodontism: interests in the early diagnosis of hypohidrotic ectodermal dysplasia. (20374512)
2010
12
Hypohidrotic ectodermal dysplasia - diagnostic aids and a report of 5 cases. (20215674)
2010
13
Hypohidrotic ectodermal dysplasia with atrophic rhinitis and nasal myiasis. (19616858)
2009
14
Non-invasive longitudinal assessment of facial growth in children and adolescents with hypohidrotic ectodermal dysplasia. (18705797)
2008
15
Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes. (17970812)
2008
16
Prosthetic rehabilitation of an adolescent with hypohidrotic ectodermal dysplasia with partial anodontia: case report. (19008629)
2008
17
Should we consider hypohidrotic ectodermal dysplasia as a possible risk factor for malignant melanoma? (17942030)
2007
18
Anthropometric and cephalometric measurements in X-linked hypohidrotic ectodermal dysplasia. (17973687)
2007
19
Hypohidrotic ectodermal dysplasia and intrathoracic neuroblastoma. (17542878)
2007
20
Palatal size and shape in 6-year olds affected by hypohidrotic ectodermal dysplasia. (17090173)
2006
21
Hypohidrotic ectodermal dysplasia: a unique approach to esthetic and prosthetic management: a case report. (15858304)
2005
22
Mutation detection in ED1 gene in hypohidrotic ectodermal dysplasia (HED) families]. (12947561)
2003
23
X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families. (12949972)
2003
24
Hypohidrotic ectodermal dysplasia: a review and case report. (15055614)
2003
25
Mutation analysis of X-linked hypohidrotic ectodermal dysplasia in a Taiwanese family. (12923595)
2003
26
New developments in the history of hypohidrotic ectodermal dysplasia. (12920356)
2003
27
Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasia. (12225002)
2002
28
Bilateral panuveitis in a child with hypohidrotic ectodermal dysplasia. (12208261)
2002
29
Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. (11241484)
2001
30
Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID). (11484156)
2001
31
Oral rehabilitation of a hypohidrotic ectodermal dysplasia patient: a 6-year follow-up. (11203989)
2000
32
Hypohidrotic ectodermal dysplasia. (10746420)
2000
33
Salivary gland involvement in hypohidrotic ectodermal dysplasia. (9680903)
1998
34
Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. (9507389)
1998
35
Persistent nasal crusting due to hypohidrotic ectodermal dysplasia. (8733465)
1996
36
Gastrointestinal complaints in individuals with hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). National Foundation for Ectodermal Dysplasias. (7501571)
1995
37
Mosaic expression of hypohidrotic ectodermal dysplasia in an isolated affected female child. (7979445)
1994
38
Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia. (8071953)
1994
39
Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment. (8434608)
1993
40
Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients. (1427872)
1992
41
Anodontia associated with hypohidrotic ectodermal dysplasia. (1344283)
1992
42
Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia. (1865470)
1991
43
Autosomal recessive inheritance of hypohidrotic ectodermal dysplasia. (2247394)
1990
44
Identification of functioning sweat pores and visualization of skin temperature patterns in X-linked hypohidrotic ectodermal dysplasia by whole body thermography. (2253940)
1990
45
Hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum. (2769725)
1989
46
Oro-facial manifestation of hypohidrotic ectodermal dysplasia--case report. (6517525)
1984
47
Hypohidrotic ectodermal dysplasia and sudden infant death. (6109826)
1981
48
Hypohidrotic ectodermal dysplasia with hypothyroidism. (7463217)
1981
49
Hypohidrotic ectodermal dysplasia: a unique approach to esthetic and prosthetic management. (6946129)
1981
50
Hypohidrotic ectodermal dysplasia in females. A critical analysis and argument for genetic heterogeneity. (5440468)
1970

Genetic Variations for Hypohidrotic Ectodermal Dysplasia

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Expression for genes affiliated with Hypohidrotic Ectodermal Dysplasia

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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

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

Pathways for genes affiliated with Hypohidrotic Ectodermal Dysplasia

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53Reactome, 37NCBI BioSystems Database, 51QIAGEN, 29KEGG, 12EMD Millipore, 4Cell Signaling Technology, 52R&D Systems, 55SinoBiological
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Pathways related to Hypohidrotic Ectodermal Dysplasia according to GeneCards/GeneDecks:

(show all 43)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.0IKBKG, TRAF6
2
Immune response TLR3 and TLR4 induce TICAM1-specific signaling pathway
10.0IKBKG, TRAF6
310.0IKBKG, TRAF6
49.7IKBKG, MAP3K7
59.7MAP3K7, IKBKG
69.6FURIN, IKBKG, TRAF6
79.5TAB2, MAP3K7
89.5TAB2, IKBKG, TRAF6
9
Hide members
9.4TRAF6, MAP3K7, IKBKG
10
Hide members
9.4TRAF6, MAP3K7, IKBKG
11
Cytokine production by Th17 cells in CF (Mouse model)
9.4TRAF6, MAP3K7, IKBKG
12
Hide members
9.4TRAF6, MAP3K7, IKBKG
139.4IKBKG, MAP3K7, TRAF6
149.3TAB2, IKBKG, MAP3K7
159.3TAB2, MAP3K7, TRAF6
169.3TAB2, MAP3K7, TRAF6
179.2PAX9, TAB2, MAP3K7
18
Hide members
9.0TRAF6, MAP3K7, IKBKG, TAB2
19
Hide members
9.0TRAF6, MAP3K7, IKBKG, TAB2
209.0TRAF6, MAP3K7, IKBKG, TAB2
21
Hide members
9.0TRAF6, MAP3K7, IKBKG, TAB2
22
Hide members
9.0TRAF6, MAP3K7, IKBKG, TAB2
23
Hide members
9.0TRAF6, MAP3K7, IKBKG, TAB2
249.0TRAF6, MAP3K7, IKBKG, TAB2
25
Mucin expression in CF via IL-6, IL-17 signaling pathways
Hide members
9.0TRAF6, MAP3K7, IKBKG, TAB2
26
Hide members
9.0TRAF6, MAP3K7, IKBKG, TAB2
27
Immune response Bacterial infections in normal airways
Hide members
9.0TRAF6, MAP3K7, IKBKG, TAB2
28
Hide members
9.0TRAF6, MAP3K7, IKBKG, TAB2
299.0TRAF6, MAP3K7, IKBKG, TAB2
30
Hide members
9.0TRAF6, MAP3K7, IKBKG, TAB2
31
Hide members
9.0TRAF6, MAP3K7, IKBKG, TAB2
32
Hide members
9.0TAB2, IKBKG, MAP3K7, TRAF6
33
Hide members
9.0TAB2, IKBKG, MAP3K7, TRAF6
349.0TAB2, IKBKG, MAP3K7, TRAF6
35
Hide members
9.0TAB2, IKBKG, MAP3K7, TRAF6
36
Hide members
9.0TAB2, IKBKG, MAP3K7, TRAF6
379.0TAB2, IKBKG, MAP3K7, TRAF6
38
Hide members
9.0TAB2, IKBKG, MAP3K7, TRAF6
39
Hide members
9.0TAB2, IKBKG, MAP3K7, TRAF6
40
Hide members
8.9TNFRSF19, EDAR, EDA2R, EDA
41
Hide members
8.7TRAF6, MAP3K7, IKBKG, TAB2, FURIN
42
Hide members
8.7TNFRSF19, EDAR, EDA2R, EDA, IKBKG
43
Hide members
8.4TNFRSF19, EDAR, TRAF6, MAP3K7, IKBKG

Compounds for genes affiliated with Hypohidrotic Ectodermal Dysplasia

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

idCompoundScoreTop Affiliating Genes
1tab-1449.3TAB2, MAP3K7, TRAF6
2tab-2449.0TAB2, MAP3K7, TRAF6

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:0083859.4IKBKG, MAP3K7
2endosome membraneGO:0100089.3TAB2, MAP3K7, TRAF6

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

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1trachea gland developmentGO:06115310.3EDA, EDARADD
2salivary gland cavitationGO:06066210.2EDAR, EDA
3positive regulation of NF-kappaB import into nucleusGO:04234610.0EDAR, EDA
4pigmentationGO:0434739.9EDA, EDAR
5positive regulation of T cell cytokine productionGO:0027269.9MAP3K7, TRAF6
6positive regulation of interleukin-2 productionGO:0327439.8TRAF6, MAP3K7
7positive regulation of T cell activationGO:0508709.8MAP3K7, TRAF6
8activation of NF-kappaB-inducing kinase activityGO:0072509.7IKBKG, MAP3K7, TRAF6
9positive regulation of JUN kinase activityGO:0435079.7MAP3K7, TRAF6
10odontogenesis of dentin-containing toothGO:0424759.6SOSTDC1, EDAR, EDARADD, EDA, TRAF6
11cell differentiationGO:0301549.6EDA, EDARADD, EDA2R, EDAR
12hair follicle developmentGO:0019429.5TNFRSF19, EDAR, EDARADD
13nucleotide-binding oligomerization domain containing signaling pathwayGO:0704239.4TRAF6, MAP3K7, IKBKG, TAB2
14nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358729.4TRAF6, MAP3K7, IKBKG, TAB2
15I-kappaB kinase/NF-kappaB cascadeGO:0072499.4TRAF6, MAP3K7, IKBKG, TAB2
16stress-activated MAPK cascadeGO:0514039.4TRAF6, MAP3K7, IKBKG, TAB2
17toll-like receptor 10 signaling pathwayGO:0341669.4TRAF6, MAP3K7, IKBKG, TAB2
18toll-like receptor 5 signaling pathwayGO:0341469.4TRAF6, MAP3K7, IKBKG, TAB2
19toll-like receptor TLR6:TLR2 signaling pathwayGO:0381249.4TRAF6, MAP3K7, IKBKG, TAB2
20toll-like receptor TLR1:TLR2 signaling pathwayGO:0381239.4TRAF6, MAP3K7, IKBKG, TAB2
21toll-like receptor 9 signaling pathwayGO:0341629.4TRAF6, MAP3K7, IKBKG, TAB2
22toll-like receptor 2 signaling pathwayGO:0341349.4TAB2, IKBKG, MAP3K7, TRAF6
23TRIF-dependent toll-like receptor signaling pathwayGO:0356669.4TRAF6, MAP3K7, IKBKG, TAB2
24MyD88-independent toll-like receptor signaling pathwayGO:0027569.4TRAF6, MAP3K7, IKBKG, TAB2
25toll-like receptor 3 signaling pathwayGO:0341389.4TRAF6, MAP3K7, IKBKG, TAB2
26MyD88-dependent toll-like receptor signaling pathwayGO:0027559.3TRAF6, MAP3K7, IKBKG, TAB2
27T cell receptor signaling pathwayGO:0508529.3TRAF6, MAP3K7, IKBKG, TAB2
28activation of MAPK activityGO:0001879.3TAB2, IKBKG, MAP3K7, TRAF6
29toll-like receptor 4 signaling pathwayGO:0341429.3TRAF6, MAP3K7, IKBKG, TAB2
30toll-like receptor signaling pathwayGO:0022249.3TAB2, IKBKG, MAP3K7, TRAF6
31Fc-epsilon receptor signaling pathwayGO:0380959.3TAB2, IKBKG, MAP3K7, TRAF6
32tumor necrosis factor-mediated signaling pathwayGO:0332099.1EDA2R, TNFRSF19
33positive regulation of NF-kappaB transcription factor activityGO:0510928.9TAB2, IKBKG, MAP3K7, TRAF6, EDA, EDA2R
34JNK cascadeGO:0072548.6TNFRSF19, TRAF6, MAP3K7, IKBKG, TAB2
35apoptotic processGO:0069158.5IKBKG, MAP3K7, PKP1, EDAR, TNFRSF19
36positive regulation of I-kappaB kinase/NF-kappaB cascadeGO:0431238.3TNFRSF19, EDA, TRAF6, MAP3K7, IKBKG, TAB2

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

idNameGO IDScoreTop Affiliating Genes
1tumor necrosis factor-activated receptor activityGO:0050319.4EDA2R, TNFRSF19

Products for genes affiliated with Hypohidrotic Ectodermal Dysplasia

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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
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57SNOMED-CT via Orphanet
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