MCID: ECT006
MIFTS: 46

Ectodermal Dysplasia malady

Summaries for Ectodermal Dysplasia

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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 clouston syndrome. 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 whole blood, thymus and brain, and related mouse phenotypes are limbs/digits/tail and integument.

Wikipedia:64 Ectodermal dysplasia is not a single disorder, but a group of syndromes all deriving from abnormalities... more...

Aliases & Classifications for Ectodermal Dysplasia

Sources:
43NIH Rare Diseases, 45Novoseek, 61UMLS
See all sources

Aliases & Descriptions:

ectodermal dysplasia 43 45 61


Related Diseases for Ectodermal Dysplasia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Ectodermal Dysplasia family:

congenital ectodermal dysplasia with hearing loss ectodermal dysplasia with natal teeth turnpenny type

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

(show top 50)    (show all 194)
idRelated DiseaseScoreTop Affiliating Genes
1hypohidrotic ectodermal dysplasia31.9EDAR, EDARADD, EDA, NFKBIA, IKBKG
2clouston syndrome30.9GJB6, EDARADD, EDAR
3hidrotic ectodermal dysplasia 230.8GJB6, TUBA3C
4syndactyly30.8PVRL4, TP63
5alopecia30.6IKBKG, EDA2R
6hypohidrosis30.4EDA, EDARADD, EDAR
7tooth agenesis30.3EDARADD
8adult syndrome30.2TP63
9cleft palate10.7
10anodontia10.7
11n syndrome10.7
12hypohidrotic ectodermal dysplasia with immune deficiency10.7
13hypohidrotic ectodermal dysplasia, autosomal10.7
14hypohidrotic ectodermal dysplasia autosomal recessive10.7
15ectodermal dysplasia skin fragility syndrome10.7
16facial ectodermal dysplasia10.7
17ectrodactyly cleft palate syndrome10.6
18rapp-hodgkin syndrome10.6
19hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia10.6
20hypohidrotic ectodermal dysplasia autosomal dominant10.5
21arthrogryposis and ectodermal dysplasia10.5
22arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay10.5
23ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.5
24ectodermal dysplasia 1, hypohidrotic, x-linked10.5
25cerebellar ataxia ectodermal dysplasia10.5
26zlotogora syndrome10.4
27ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive10.4
28congenital ectodermal dysplasia with hearing loss10.4
29eec syndrome10.4
30immunodeficiency without anhidrotic ectodermal dysplasia10.4
31ectodermal dysplasia 4, hair/nail type10.4
32atrophic rhinitis10.4
33wells syndrome10.4
34ectodermal dysplasia blindness10.4
35ectodermal dysplasia mental retardation syndactyly10.4
36lelis syndrome10.4
37ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive10.4
38ectodermal dysplasia 11a, hypohidrotic/hair/tooth type10.4
39ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 310.4
40ectodermal dysplasia - cutaneous syndactyly syndrome10.4
41aredyld10.3
42eem syndrome10.3
43ectrodactyly and ectodermal dysplasia without cleft lip/palate10.3
44micro syndrome10.3
45ectodermal dysplasia adrenal cyst10.3
46pili torti10.3
47ectodermal dysplasia berlin type10.3
48ectodermal dysplasia trichoodontoonychial type10.3
49ectodermal dysplasia with natal teeth turnpenny type10.3
50ectodermal dysplasia, hidrotic, christianson-fourie type10.3

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



Diseases related to ectodermal dysplasia

Clinical Features for Ectodermal Dysplasia

Drugs & Therapeutics for Ectodermal Dysplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Ectodermal Dysplasia

Drug clinical trials:

Search ClinicalTrials for Ectodermal Dysplasia

Search NIH Clinical Center for Ectodermal Dysplasia

Search CenterWatch for Ectodermal Dysplasia

Genetic Tests for Ectodermal Dysplasia

Anatomical Context for Ectodermal Dysplasia

Sources:
31LifeMap Discovery™, 33MalaCards
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MalaCards organs/tissues related to Ectodermal Dysplasia:

33
Whole blood, Thymus, Brain, Liver, Salivary gland, Breast, Skin, T cells, B cells, Fetal brain, Fetal liver, Trachea, Bronchial epithelium, Pituitary

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Ectodermal Dysplasia:

37
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

Sources:
51PubMed
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Articles related to Ectodermal Dysplasia:

(show top 50)    (show all 760)
idTitleAuthorsYear
1
A child with autoimmune polyendocrinopathy candidiasis and ectodermal dysplasia treated with immunosuppression: a case report. (23409957)
2013
2
Hypodontia due to ectodermal dysplasia: authors' response to the reviewer commentary. (23827277)
2013
3
Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation. (23864385)
2013
4
Speech prosthesis in child patient with ectodermal dysplasia. Case report. (23691724)
2013
5
Anhidrotic ectodermal dysplasia: a new mutation. (23870671)
2013
6
Late diagnosis of ectodermal dysplasia syndrome. (22670871)
2013
7
Rehabilitation of children with ectodermal dysplasia. Part 1: an international Delphi study. (23869367)
2013
8
Orofacial features of hypohidrotic ectodermal dysplasia. (22421994)
2012
9
Ceramide profile in hypohidrotic ectodermal dysplasia. (22299720)
2012
10
Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia. (21771270)
2011
11
Anhidrotic ectodermal dysplasia presenting as atrophic rhinitis. (22666945)
2011
12
Decreased expression in nuclear factor-I_B essential modulator due to a novel splice-site mutation causes X-linked ectodermal dysplasia with immunodeficiency. (21720903)
2011
13
Ankyloblepharon-ectodermal dysplasia-clefting syndrome: a novel p63 mutation associated with generalized neonatal erosions. (20738799)
2011
14
A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia. (21696697)
2011
15
Ectodermal dysplasia-skin fragility syndrome. (19945625)
2010
16
A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma. (19716498)
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
Bazex-DuprAc-Christol syndrome: an ectodermal dysplasia with skin appendage neoplasms. (19138767)
2009
19
Prosthetic rehabilitation of an adolescent with hypohidrotic ectodermal dysplasia with partial anodontia: case report. (19008629)
2008
20
Gene symbol: ED1. Disease: X-linked anhidrotic ectodermal dysplasia. (18386320)
2008
21
Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds. (18821982)
2008
22
Anthropometric and cephalometric measurements in X-linked hypohidrotic ectodermal dysplasia. (17973687)
2007
23
Hay-wells syndrome of ectodermal dysplasia. (16444073)
2006
24
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
25
A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1. (15675952)
2005
26
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. (15213106)
2004
27
X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival. (14726382)
2004
28
Hair and sweat glands in families with hypohidrotic ectodermal dysplasia: further characterization. (15262696)
2004
29
Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO. (12651765)
2003
30
Treatment of congenital ectodermal dysplasia with zygomatic implants: a case report. (11958412)
2002
31
Children with ectodermal dysplasia need early treatment. (12790228)
2002
32
A single point mutation within the ED1 gene disrupts correct splicing at two different splice sites and leads to anhidrotic ectodermal dysplasia in cattle. (12021844)
2002
33
A novel arginine-->Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia. (10951256)
2000
34
Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family. (10730756)
2000
35
A case of hypohidrotic ectodermal dysplasia. (10063212)
1999
36
What syndrome is this? Ectrodactyly, ectodermal dysplasia, and cleft palate (EEC) syndrome. (9192423)
1997
37
Scarring folliculitis in the ectrodactyly-ectodermal dysplasia-clefting syndrome. Histologic, scanning electron-microscopic and biophysical studies of hair. (9094476)
1997
38
A clinico-pathologic presentation. Hereditary hypohidrotic ectodermal dysplasia, or HED. (9520670)
1996
39
Dental and craniofacial findings in hypohidrotic ectodermal dysplasia during the primary dentition phase. (7811659)
1994
40
Syndactyly, ectodermal dysplasia, and cleft lip/palate. (7891379)
1994
41
Hidrotic Ectodermal Dysplasia 2 (20301379)
1993
42
High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus. (1357963)
1992
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
Hypohidrotic ectodermal dysplasia: an unusual case report of twins. (3162530)
1988
45
Characterization of the face in hypohidrotic ectodermal dysplasia by cephalometric and anthropometric analysis. (3179427)
1988
46
Ozena as presenting symptom of a rare and severe genetic disease: hypohidrotic ectodermal dysplasia. (6500829)
1984
47
Osteosclerosis and ectodermal dysplasia. (7163261)
1982
48
An ectodermal dysplasia syndrome of alopecia, onychodysplasia, hypohidrosis, hyperkeratosis, deafness and other manifestations. (863459)
1977
49
Hypohidrotic ectodermal dysplasia: unusual palmprint in a heterozygote. (4686546)
1973
50
Hypohidrotic ectodermal dysplasia in females. A critical analysis and argument for genetic heterogeneity. (5440468)
1970

Genetic Variations for Ectodermal Dysplasia

Expression for genes affiliated with Ectodermal Dysplasia

Sources:
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

Sources:
52QIAGEN, 54Reactome, 56SinoBiological, 53R&D Systems, 38NCBI BioSystems Database, 30KEGG, 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
110.5IKBKG, NFKBIA
210.5PVRL1, PVRL4
3
Hide members
10.5EDAR, EDA2R, EDA, NFKBIA
4
Hide members
10.5IKBKG, TRAF6
510.5TRAF6, IKBKG
6
Hide members
10.5NFKBIA, TRAF6
7
Hide members
10.5EDAR, EDA2R, EDA, NFKBIA, IKBKG
8
Hide members
10.5IKBKG, TRAF6, NFKBIA
910.5IKBKG, TRAF6, NFKBIA
10
Hide members
10.5IKBKG, TRAF6, NFKBIA
11
Hide members
10.5IKBKG, TRAF6, NFKBIA
12
Hide members
10.5IKBKG, TRAF6, NFKBIA
13
Hide members
10.5IKBKG, TRAF6, NFKBIA
1410.5IKBKG, TRAF6, NFKBIA
15
Hide members
10.5IKBKG, TRAF6, NFKBIA
16
Immune response Bacterial infections in normal airways
Hide members
10.5IKBKG, TRAF6, NFKBIA
17
Hide members
10.5IKBKG, TRAF6, NFKBIA
18
Hide members
10.5IKBKG, TRAF6, NFKBIA
1910.5NFKBIA, TRAF6, IKBKG
20
Hide members
10.5NFKBIA, TRAF6, IKBKG
2110.5NFKBIA, TRAF6, IKBKG
22
Cytokine production by Th17 cells in CF (Mouse model)
10.5NFKBIA, TRAF6, IKBKG
2310.5NFKBIA, TRAF6, IKBKG
24
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
Hide members
10.5NFKBIA, TRAF6, IKBKG
2510.5NFKBIA, TRAF6, IKBKG
26
Mucin expression in CF via IL-6, IL-17 signaling pathways
Hide members
10.5NFKBIA, TRAF6, IKBKG
27
Hide members
10.5NFKBIA, TRAF6, IKBKG
28
Hide members
10.5NFKBIA, TRAF6, IKBKG
2910.5NFKBIA, TRAF6, IKBKG
30
Hide members
10.5EDAR, NFKBIA, TRAF6, IKBKG
31
Hide members
10.4IKBKG, TRAF6, NFKBIA, PVRL1

Compounds for genes affiliated with Ectodermal Dysplasia

GO Terms for genes affiliated with Ectodermal Dysplasia

Sources:
16Gene Ontology
See all sources

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

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

Products for genes affiliated with Ectodermal Dysplasia

  • Antibodies
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  • Antibodies

Sources for Ectodermal Dysplasia

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet