MCID: ECT006
MIFTS: 49

Ectodermal Dysplasia malady

Rare diseases category

Summaries for Ectodermal Dysplasia

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44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 Ectodermal dysplasias (ed) are a group of about 150 heritable disorders that affect the ectoderm, a layer of tissue that contributes to the formation of many parts of the body, including the skin, sweat glands, hair, teeth, and nails. symptoms can range from mild to severe and may include dental abnormalities; brittle, sparse or absent hair; abnormal fingernails; inability to perspire (hypohidrosis); various skin problems; and other symptoms. different types of ectodermal dysplasias are caused byĀ mutations in different genes, and can be inherited in a variety of ways. there are no cures for ed, but many treatments are available to address the individual symptoms. last updated: 4/27/2011

MalaCards: Ectodermal Dysplasia is related to hypohidrotic ectodermal dysplasia and cleft lip. An important gene associated with Ectodermal Dysplasia is EDA (ectodysplasin A), and among its related pathways are MAPK Pathway and Small cell lung cancer. The compounds arginine and calcium have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and t cells, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Wikipedia:66 Ectodermal dysplasia is not a single disorder, but a group of syndromes all deriving from abnormalities... more...

Aliases & Classifications for Ectodermal Dysplasia

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44NIH Rare Diseases, 46Novoseek, 63UMLS
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Classifications:

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


Aliases & Descriptions:

ectodermal dysplasia 44 46 63


Related Diseases for Ectodermal Dysplasia

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18GeneCards, 19GeneDecks
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Diseases related to Ectodermal Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 212)
idRelated DiseaseScoreTop Affiliating Genes
1hypohidrotic ectodermal dysplasia31.8EDA2R, EDA, EDARADD, EDAR, IKBKG
2cleft lip31.0TP63, PVRL1
3clouston syndrome31.0EDARADD, EDAR, GJB6
4alopecia30.5EDA2R, IKBKG
5hypohidrosis30.5EDA, EDARADD, EDAR
6cleft palate30.4PVRL1, TP63
7tooth agenesis30.4EDARADD
8eec syndrome10.8
9anodontia10.7
10hypohidrotic ectodermal dysplasia with immune deficiency10.7
11ectodermal dysplasia skin fragility syndrome10.7
12hidrotic ectodermal dysplasia 210.6
13hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia10.6
14arthrogryposis and ectodermal dysplasia10.6
15syndactyly10.6
16ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.6
17arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay10.5
18rapp-hodgkin syndrome10.5
19ectodermal dysplasia 1, hypohidrotic, x-linked10.5
20eem syndrome10.5
21ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive10.5
22cerebellar ataxia ectodermal dysplasia10.5
23facial ectodermal dysplasia10.5
24congenital ectodermal dysplasia with hearing loss10.4
25immunodeficiency without anhidrotic ectodermal dysplasia10.4
26zlotogora syndrome10.4
27ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 310.4
28ectodermal dysplasia 4, hair/nail type10.4
29hypohidrotic ectodermal dysplasia autosomal dominant10.4
30hypohidrotic ectodermal dysplasia autosomal recessive10.4
31lelis syndrome10.4
32ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive10.4
33ectodermal dysplasia 11a, hypohidrotic/hair/tooth type10.4
34atrophic rhinitis10.4
35hypotrichosis10.4
36rhinitis10.4
37aredyld10.4
38ectodermal dysplasia berlin type10.4
39ectodermal dysplasia trichoodontoonychial type10.4
40ectodermal dysplasia with natal teeth turnpenny type10.4
41ectrodactyly and ectodermal dysplasia without cleft lip/palate10.4
42mental retardation10.4
43ectodermal dysplasia 3, witkop type10.4
44ectodermal dysplasia - cutaneous syndactyly syndrome10.4
45ellis-van creveld syndrome10.3
46ectodermal dysplasia adrenal cyst10.3
47ectodermal dysplasia blindness10.3
48ectodermal dysplasia mental retardation syndactyly10.3
49ectodermal dysplasia, hidrotic, christianson-fourie type10.3
50pili torti10.3

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



Diseases related to ectodermal dysplasia

Symptoms for Ectodermal Dysplasia

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Drugs & Therapeutics for Ectodermal Dysplasia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Ectodermal Dysplasia

Search CenterWatch for Ectodermal Dysplasia

Genetic Tests for Ectodermal Dysplasia

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Anatomical Context for Ectodermal Dysplasia

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32LifeMap Discoveryā„¢, 34MalaCards
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MalaCards organs/tissues related to Ectodermal Dysplasia:

34
Skin, Bone, T cells, Brain, Salivary gland, Testes, Eye, B cells, Breast, Pituitary, Liver, Thymus, Trachea

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Ectodermal Dysplasia:
id TissueAnatomical CompartmentCell Relevance
1 EpidermisEmbryonic EpidermisBasal Keratinocytes Affected by disease
2 EpidermisStratified EpidermisCorneocytes Affected by disease
3 EpidermisStratified EpidermisGranular Keratinocytes Affected by disease
4 EpidermisStratified EpidermisSpinous Keratinocytes Affected by disease

Animal Models for Ectodermal Dysplasia or affiliated genes

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38MGI
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Publications for Ectodermal Dysplasia

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53PubMed
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Articles related to Ectodermal Dysplasia:

(show top 50)    (show all 753)
idTitleAuthorsYear
1
Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia. (23613309)
2013
2
Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia. (23981984)
2013
3
Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene. (22309335)
2012
4
Hypohidrotic ectodermal dysplasia. (23130287)
2012
5
De novo mutation of the bovine EDA gene associated with anhidrotic ectodermal dysplasia in Japanese Black cattle. (22497423)
2012
6
Prevalence of atopic disorders and immunodeficiency in patients with ectodermal dysplasia syndromes. (22626597)
2012
7
Bone microarchitecture at oral implant sites in ectodermal dysplasia (ED): a comparison between males and females. (22106965)
2012
8
Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia. (21771270)
2011
9
Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome. (20944926)
2010
10
Quantification of taurodontism: interests in the early diagnosis of hypohidrotic ectodermal dysplasia. (20374512)
2010
11
The contribution of orthodontics to the prosthodontic treatment of ectodermal dysplasia: a long-term clinical report. (21037191)
2010
12
A novel frameshift mutation of the EDA1 gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia. (18702659)
2009
13
A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma. (19716498)
2009
14
From ectodermal dysplasia to selective tooth agenesis. (19504606)
2009
15
Successful umbilical cord blood transplantation for intractable eczematous eruption in hypohidrotic ectodermal dysplasia with immunodeficiency. (19663838)
2009
16
Mutation screening of the ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. (18231121)
2008
17
Gene symbol: ED1. Disease: Ectodermal dysplasia. (18386310)
2008
18
Three-dimensional sonographic findings associated with ectrodactyly ectodermal dysplasia clefting syndrome. (18096742)
2008
19
Anhidrotic ectodermal dysplasia with palmoplantar keratoderma: an unusual presentation. (17550568)
2007
20
Dental findings in patients with ectodermal dysplasia. (16953354)
2006
21
The management of ectodermal dysplasia and severe hypodontia. International conference statements. (16922735)
2006
22
New genes candidates for ectodermal dysplasia: TAB2, TRAF6 and TAK1]. (16527194)
2006
23
Ectrodactyly, ectodermal dysplasia, macular degeneration syndrome: a further contribution. (16970031)
2006
24
Soft tissue facial angles in individuals with ectodermal dysplasia: A three-dimensional noninvasive study. (16681407)
2006
25
Hay-wells syndrome of ectodermal dysplasia. (16444073)
2006
26
Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome. (16121056)
2005
27
Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome. (16159729)
2005
28
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. (15213106)
2004
29
Osseointegrated implants in the oral rehabilitation of a patient with cleft lip and palate and ectodermal dysplasia: a case report. (15623068)
2004
30
Craniofacial anthropometric pattern profile in hypohidrotic ectodermal dysplasia--application in detection of gene carriers. (14746168)
2003
31
A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. (12788524)
2003
32
18q-syndrome and ectodermal dysplasia syndrome: description of a child and his family. (12494443)
2003
33
Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasia. (12225002)
2002
34
Hypohidrotic ectodermal dysplasia: dental, clinical, genetic and dermatoglyphic findings of three cases. (11688814)
2001
35
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. (11224521)
2001
36
The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia. (11295832)
2001
37
Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia. (11343303)
2001
38
Hypohidrotic ectodermal dysplasia--a case report. (10863497)
1999
39
Distal arthrogryposis, ectodermal dysplasia and dilated cardiomyopathy--a new syndrome? (9689995)
1998
40
Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. (9245989)
1997
41
Anhidrotic ectodermal dysplasia associated with specific antibody deficiency. (8775234)
1996
42
Ectodermal dysplasia with corkscrew hairs: observation of probable autosomal dominant tricho-odonto-onychodysplasia with syndactyly. (8141890)
1994
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
Fever and hypotrichosis in a newborn. Anhidrotic ectodermal dysplasia (AED). (3777980)
1986
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
Hypoplastic enamel, onycholysis, and hypohidrosis inherited as an autosomal dominant trait. A review of ectodermal dysplasia syndromes. (122795)
1975
50
Anodontia in hereditary ectodermal dysplasia. (18129730)
1949

Variations for Ectodermal Dysplasia

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Expression for genes affiliated with Ectodermal Dysplasia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ectodermal Dysplasia

Search GEO for disease gene expression data for Ectodermal Dysplasia.

Pathways for genes affiliated with Ectodermal Dysplasia

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51PathCards, 62Tocris Bioscience, 31KEGG, 56Reactome, 61Thomson Reuters, 39NCBI BioSystems Database, 5Cell Signaling Technology, 55R&D Systems, 54QIAGEN, 58SinoBiological
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Pathways related to Ectodermal Dysplasia according to GeneCards/GeneDecks:

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3NFKBIA, IKBKG
29.3NFKBIA, IKBKG
39.3NFKBIA, IKBKG
4
Show member pathways
9.3IKBKG, NFKBIA
5
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
9.3NFKBIA, IKBKG
6
Show member pathways
9.3IKBKG, NFKBIA
7
Show member pathways
9.3NFKBIA, IKBKG
89.3NFKBIA, IKBKG
99.3IKBKG, NFKBIA
10
Show member pathways
Development VEGF signaling via VEGFR2 generic cascades61
9.3NFKBIA, IKBKG
11
Show member pathways
9.3NFKBIA, IKBKG
129.3NFKBIA, IKBKG
13
Show member pathways
9.3IKBKG, NFKBIA
149.3NFKBIA, IKBKG
15
Show member pathways
Apoptosis and survival Anti apoptotic TNFs NF kB IAP pathway61
9.3NFKBIA, IKBKG
16
Show member pathways
Apoptosis and survival Lymphotoxin beta receptor signaling61
9.3NFKBIA, IKBKG
17
Show member pathways
9.3IKBKG, NFKBIA
18
Show member pathways
9.0EDAR, IKBKG, NFKBIA
19
Show member pathways
Proteasome Degradation39
Immune response Antigen presentation by MHC class I61
9.0IKBKG, PKP1, NFKBIA
20
Show member pathways
8.9NFKBIA, IKBKG, PVRL1
21
Show member pathways
8.7NFKBIA, EDAR, EDA, EDA2R
22
Show member pathways
Apoptosis Modulation and Signaling39
Apoptosis39
8.5NFKBIA, IKBKG, TP63
23
Show member pathways
8.2EDA2R, EDA, EDAR, IKBKG, NFKBIA

Compounds for genes affiliated with Ectodermal Dysplasia

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46Novoseek, 52PharmGKB, 25HMDB, 12DrugBank
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Compounds related to Ectodermal Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arginine467.9NFKBIA, IKBKG, TP63, EDA
2calcium46 52 25 1210.8NFKBIA, PKP1, IKBKG, PVRL1, TP63

GO Terms for genes affiliated with Ectodermal Dysplasia

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17Gene Ontology
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Cellular components related to Ectodermal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1apical part of cellGO:0451779.9EDAR, EDA
2intracellular membrane-bounded organelleGO:0432319.1PKP1, PVRL1, EDA

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1salivary gland cavitationGO:06066210.2EDA, EDAR
2positive regulation of NF-kappaB import into nucleusGO:04234610.2EDAR, EDA
3pigmentationGO:04347310.2EDA, EDAR
4trachea gland developmentGO:06115310.1EDARADD, EDA
5hair follicle developmentGO:00194210.0EDAR, EDARADD
6epidermis developmentGO:0085449.7EDAR, EDA2R
7positive regulation of type I interferon productionGO:0324819.6NFKBIA, IKBKG
8cell-cell adhesionGO:0163379.6PKP1, PVRL1
9toll-like receptor 5 signaling pathwayGO:0341469.6NFKBIA, IKBKG
10toll-like receptor 10 signaling pathwayGO:0341669.6NFKBIA, IKBKG
11toll-like receptor TLR6:TLR2 signaling pathwayGO:0381249.6IKBKG, NFKBIA
12toll-like receptor TLR1:TLR2 signaling pathwayGO:0381239.6IKBKG, NFKBIA
13toll-like receptor 9 signaling pathwayGO:0341629.6NFKBIA, IKBKG
14immune responseGO:0069559.5EDA, PVRL1, IKBKG
15toll-like receptor 2 signaling pathwayGO:0341349.5NFKBIA, IKBKG
16TRIF-dependent toll-like receptor signaling pathwayGO:0356669.5IKBKG, NFKBIA
17MyD88-dependent toll-like receptor signaling pathwayGO:0027559.5NFKBIA, IKBKG
18MyD88-independent toll-like receptor signaling pathwayGO:0027569.4NFKBIA, IKBKG
19toll-like receptor 3 signaling pathwayGO:0341389.3IKBKG, NFKBIA
20toll-like receptor 4 signaling pathwayGO:0341429.3NFKBIA, IKBKG
21signal transductionGO:0071659.3PKP1, PVRL1, EDARADD, EDA
22cell differentiationGO:0301549.2EDAR, EDARADD, EDA, EDA2R
23T cell receptor signaling pathwayGO:0508529.0NFKBIA, IKBKG
24odontogenesis of dentin-containing toothGO:0424758.9TP63, EDAR, EDARADD, EDA
25positive regulation of NF-kappaB transcription factor activityGO:0510928.9EDA2R, EDA, IKBKG, NFKBIA
26apoptotic processGO:0069157.8EDAR, TP63, IKBKG, PKP1, GJB6, NFKBIA

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055156.6NFKBIA, PKP1, IKBKG, PVRL1, TP63, EDAR

Products for genes affiliated with Ectodermal Dysplasia

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Sources for Ectodermal Dysplasia

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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