MCID: ECT006
MIFTS: 32

Ectodermal Dysplasia malady

Summaries for Ectodermal Dysplasia

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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 by 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 NTHi-Induced Signaling and Nectin/Necl trans heterodimerization. Affiliated tissues include skin, and related mouse phenotypes are limbs/digits/tail and integument.

Wikipedia:63 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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42NIH Rare Diseases, 44Novoseek, 60UMLS
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Aliases & Descriptions:

ectodermal dysplasia 42 44 60


Related Diseases for Ectodermal Dysplasia

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

(show top 50)    (show all 197)
idRelated DiseaseScoreTop Affiliating Genes
1hypohidrotic ectodermal dysplasia31.8EDAR, EDARADD, EDA, NFKBIA, IKBKG
2cleft lip31.0PVRL1, TP63
3clouston syndrome30.9GJB6, EDARADD, EDAR
4hidrotic ectodermal dysplasia 230.8TUBA3C, GJB6
5syndactyly30.8PVRL4, TP63
6alopecia30.5EDA2R, IKBKG
7hypohidrosis30.4EDA, EDARADD, EDAR
8tooth agenesis30.3EDARADD
9adult syndrome30.2TP63
10cleft palate10.7
11anodontia10.7
12hypohidrotic ectodermal dysplasia with immune deficiency10.7
13hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia10.6
14ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.5
15arthrogryposis and ectodermal dysplasia10.5
16arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay10.5
17ectodermal dysplasia 1, hypohidrotic, x-linked10.5
18ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive10.5
19facial ectodermal dysplasia10.4
20cerebellar ataxia ectodermal dysplasia10.4
21zlotogora syndrome10.4
22congenital ectodermal dysplasia with hearing loss10.4
23ectodermal dysplasia skin fragility syndrome10.4
24eec syndrome10.4
25immunodeficiency without anhidrotic ectodermal dysplasia10.4
26ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 310.4
27ectodermal dysplasia 4, hair/nail type10.4
28hypohidrotic ectodermal dysplasia autosomal recessive10.4
29hypohidrotic ectodermal dysplasia autosomal dominant10.4
30ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive10.4
31ectodermal dysplasia 11a, hypohidrotic/hair/tooth type10.4
32atrophic rhinitis10.3
33hypotrichosis10.3
34rhinitis10.3
35ectodermal dysplasia berlin type10.3
36ectodermal dysplasia trichoodontoonychial type10.3
37ectodermal dysplasia with natal teeth turnpenny type10.3
38rapp-hodgkin syndrome10.3
39eem syndrome10.3
40ectrodactyly and ectodermal dysplasia without cleft lip/palate10.3
41ectodermal dysplasia 3, witkop type10.3
42ellis-van creveld syndrome10.3
43x-linked disease10.3
44ectodermal dysplasia adrenal cyst10.3
45ectodermal dysplasia blindness10.3
46ectodermal dysplasia mental retardation syndactyly10.3
47ectodermal dysplasia, hidrotic, christianson-fourie type10.3
48ectodermal dysplasia-syndactyly syndrome 110.3
49ectodermal dysplasia 9, hair/nail type10.3
50ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency10.3

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



Diseases related to ectodermal dysplasia

Clinical Features for Ectodermal Dysplasia

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Drugs & Therapeutics for Ectodermal Dysplasia

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

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Drug clinical trials:

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Search CenterWatch for Ectodermal Dysplasia

Genetic Tests for Ectodermal Dysplasia

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Anatomical Context for Ectodermal Dysplasia

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Sources:
30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Ectodermal Dysplasia:

32
Skin

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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36MGI
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MGI Mouse Phenotypes related to Ectodermal Dysplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.5TP63, TRAF6, EDA, EDARADD, EDAR
2MP:001077110.4EDAR, EDARADD, EDA, NFKBIA, TRAF6, IKBKG
3MP:000118610.4IKBKG, TRAF6, EDA, EDARADD, EDAR
4MP:000538210.1TP63, TRAF6, EDA, EDARADD, EDAR, PVRL1

Publications for Ectodermal Dysplasia

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Genetic Variations for Ectodermal Dysplasia

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Expression for genes affiliated with Ectodermal Dysplasia

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1BioGPS, 15Gene 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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51QIAGEN, 53Reactome, 55SinoBiological, 52R&D Systems, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore, 4Cell Signaling Technology
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Pathways related to Ectodermal Dysplasia according to GeneCards/GeneDecks:

(show all 31)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5NFKBIA, IKBKG
210.5PVRL4, PVRL1
3
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10.5EDA, EDA2R, EDAR, NFKBIA
4
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10.5IKBKG, TRAF6
510.5TRAF6, IKBKG
6
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10.5TRAF6, NFKBIA
7
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10.5IKBKG, NFKBIA, EDA2R, EDAR, EDA
8
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10.5IKBKG, TRAF6, NFKBIA
910.5IKBKG, TRAF6, NFKBIA
10
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10.5IKBKG, TRAF6, NFKBIA
1110.5IKBKG, TRAF6, NFKBIA
12
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10.5IKBKG, TRAF6, NFKBIA
1310.5IKBKG, NFKBIA, TRAF6
14
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10.5IKBKG, NFKBIA, TRAF6
1510.5IKBKG, TRAF6, NFKBIA
16
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10.5TRAF6, NFKBIA, IKBKG
17
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10.5NFKBIA, IKBKG, TRAF6
1810.5NFKBIA, TRAF6, IKBKG
19
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10.5NFKBIA, TRAF6, IKBKG
20
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10.5TRAF6, NFKBIA, IKBKG
2110.5NFKBIA, TRAF6, IKBKG
22
Immune response Bacterial infections in normal airways
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10.5NFKBIA, TRAF6, IKBKG
23
Cytokine production by Th17 cells in CF (Mouse model)
10.5NFKBIA, TRAF6, IKBKG
24
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
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10.5TRAF6, NFKBIA, IKBKG
25
Mucin expression in CF via IL-6, IL-17 signaling pathways
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10.5NFKBIA, TRAF6, IKBKG
2610.5NFKBIA, TRAF6, IKBKG
27
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10.5TRAF6, NFKBIA, IKBKG
28
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10.5TRAF6, NFKBIA, IKBKG
29
Hide members
10.5NFKBIA, IKBKG, TRAF6
30
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10.5EDAR, NFKBIA, TRAF6, IKBKG
31
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10.4IKBKG, NFKBIA, PVRL1, TRAF6

Compounds for genes affiliated with Ectodermal Dysplasia

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GO Terms for genes affiliated with Ectodermal Dysplasia

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16Gene Ontology
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Biological processes related to Ectodermal Dysplasia according to GeneCards/GeneDecks:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1trachea gland developmentGO:06115310.8EDA, EDARADD
2salivary gland cavitationGO:06066210.8EDA, EDAR
3odontogenesis of dentin-containing toothGO:04247510.8TP63, TRAF6, EDA, EDARADD, EDAR
4positive regulation of NF-kappaB transcription factor activityGO:05109210.8EDA2R, EDA, NFKBIA, TRAF6, IKBKG
5toll-like receptor 10 signaling pathwayGO:03416610.8NFKBIA, TRAF6, IKBKG
6toll-like receptor 5 signaling pathwayGO:03414610.8NFKBIA, TRAF6, IKBKG
7toll-like receptor TLR6:TLR2 signaling pathwayGO:03812410.8NFKBIA, TRAF6, IKBKG
8toll-like receptor TLR1:TLR2 signaling pathwayGO:03812310.8NFKBIA, TRAF6, IKBKG
9toll-like receptor 9 signaling pathwayGO:03416210.8NFKBIA, TRAF6, IKBKG
10toll-like receptor 2 signaling pathwayGO:03413410.8IKBKG, TRAF6, NFKBIA
11TRIF-dependent toll-like receptor signaling pathwayGO:03566610.8NFKBIA, TRAF6, IKBKG
12epidermis developmentGO:00854410.7EDAR, EDA2R, KRT85
13MyD88-independent toll-like receptor signaling pathwayGO:00275610.7NFKBIA, TRAF6, IKBKG
14toll-like receptor 3 signaling pathwayGO:03413810.7NFKBIA, TRAF6, IKBKG
15MyD88-dependent toll-like receptor signaling pathwayGO:00275510.7NFKBIA, TRAF6, IKBKG
16T cell receptor signaling pathwayGO:05085210.7NFKBIA, TRAF6, IKBKG
17toll-like receptor 4 signaling pathwayGO:03414210.7IKBKG, TRAF6, NFKBIA
18apoptotic processGO:00691510.7EDAR, PKP1, NFKBIA, IKBKG, TP63
19toll-like receptor signaling pathwayGO:00222410.6NFKBIA, TRAF6, IKBKG
20activation of NF-kappaB-inducing kinase activityGO:00725010.6IKBKG, TRAF6
21modulation by virus of host morphology or physiologyGO:01904810.6PVRL1, PVRL4, NFKBIA, IKBKG
22positive regulation of NF-kappaB import into nucleusGO:04234610.5EDA, EDAR
23pigmentationGO:04347310.5EDAR, EDA
24nucleotide-binding oligomerization domain containing signaling pathwayGO:07042310.5IKBKG, TRAF6
25cell differentiationGO:03015410.4EDA, EDARADD, EDA2R, EDAR
26positive regulation of I-kappaB kinase/NF-kappaB cascadeGO:04312310.2EDA, TRAF6, IKBKG

Products for genes affiliated with Ectodermal Dysplasia

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Sources for 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet