MCID: ECT006
MIFTS: 56

Ectodermal Dysplasia malady

Rare diseases category

Summaries for Ectodermal Dysplasia

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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 based summary: Ectodermal Dysplasia is related to ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive and cleft lip, and has symptoms including dry skin, slow-growing hair and abnormality of dental morphology. 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:65 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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Ectodermal Dysplasia, Aliases & Descriptions:

Name: Ectodermal Dysplasia 32 43 45 62


Classifications:

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


External Ids:

ICD1027 Q82.4

Related Diseases for Ectodermal Dysplasia

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

(show top 50)    (show all 218)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive31.3EDA2R, EDA, EDARADD, EDAR, IKBKG
2cleft lip31.1TP63, PVRL1
3ectodermal dysplasia 2, clouston type30.9EDARADD, EDAR, GJB6
4alopecia30.6EDA2R, IKBKG
5hypohidrosis30.5EDA, EDARADD, EDAR
6tooth agenesis30.5EDARADD
7eec syndrome10.8
8anodontia10.8
9ectodermal dysplasia, hypohidrotic, with immune deficiency10.7
10ectodermal dysplasia/skin fragility syndrome10.7
11ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.7
12hidrotic ectodermal dysplasia 210.6
13syndactyly10.6
14arthrogryposis and ectodermal dysplasia10.6
15rapp-hodgkin syndrome10.6
16arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay10.6
17hypohidrotic ectodermal dysplasia autosomal recessive10.6
18hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia10.6
19focal facial dermal dysplasia 3, setleis type10.5
20ectodermal dysplasia 1, hypohidrotic, x-linked10.5
21ectodermal dysplasia, ectrodactyly, and macular dystrophy10.5
22cerebellar ataxia ectodermal dysplasia10.5
23ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive10.5
24ectodermal dysplasia 4, hair/nail type10.5
25ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency10.5
26ectrodactyly and ectodermal dysplasia without cleft lip/palate10.5
27ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant10.5
28ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 310.5
29immunodeficiency, isolated10.5
30aredyld10.5
31congenital ectodermal dysplasia with hearing loss10.5
32lelis syndrome10.5
33hay-wells syndrome10.4
34ectodermal dysplasia 3, witkop type10.4
35hypotrichosis10.4
36ectodermal dysplasia adrenal cyst10.4
37ectodermal dysplasia - syndactyly syndrome10.4
38ectodermal dysplasia 5, hair/nail type10.4
39ectodermal dysplasia 9, hair/nail type10.4
40ectodermal dysplasia 7, hair/nail type10.4
41ectodermal dysplasia 6, hair/nail type10.4
42ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency10.4
43atrophic rhinitis10.4
44rhinitis10.4
45bustos simosa pinto cisternas syndrome10.4
46ectodermal dysplasia mental retardation syndactyly10.4
47ectodermal dysplasia trichoodontoonychial type10.4
48ectodermal dysplasia with natal teeth turnpenny type10.4
49mental retardation10.4
50ectodermal dysplasia-syndactyly syndrome 110.3

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



Diseases related to ectodermal dysplasia

Symptoms for Ectodermal Dysplasia

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HPO human phenotypes related to Ectodermal Dysplasia:

(show all 36)
id Description Frequency HPO Source Accession
1 dry skin hallmark (90%) HP:0000958
2 slow-growing hair hallmark (90%) HP:0002217
3 abnormality of dental morphology hallmark (90%) HP:0006482
4 abnormality of the toenail hallmark (90%) HP:0008388
5 abnormal hair quantity hallmark (90%) HP:0011362
6 abnormality of nail color hallmark (90%) HP:0100643
7 oral cleft typical (50%) HP:0000202
8 frontal bossing typical (50%) HP:0002007
9 fine hair typical (50%) HP:0002213
10 aplasia/hypoplasia of the nipples typical (50%) HP:0006709
11 xerostomia occasional (7.5%) HP:0000217
12 everted lower lip vermilion occasional (7.5%) HP:0000232
13 sinusitis occasional (7.5%) HP:0000246
14 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
15 otitis media occasional (7.5%) HP:0000388
16 conductive hearing impairment occasional (7.5%) HP:0000405
17 visual impairment occasional (7.5%) HP:0000505
18 cataract occasional (7.5%) HP:0000518
19 photophobia occasional (7.5%) HP:0000613
20 acanthosis nigricans occasional (7.5%) HP:0000956
21 eczema occasional (7.5%) HP:0000964
22 palmoplantar keratoderma occasional (7.5%) HP:0000982
23 abnormality of skin pigmentation occasional (7.5%) HP:0001000
24 keratoconjunctivitis sicca occasional (7.5%) HP:0001097
25 hand polydactyly occasional (7.5%) HP:0001161
26 split hand occasional (7.5%) HP:0001171
27 seizures occasional (7.5%) HP:0001250
28 abnormality of the foot occasional (7.5%) HP:0001760
29 malignant hyperthermia occasional (7.5%) HP:0002047
30 pili torti occasional (7.5%) HP:0003777
31 finger syndactyly occasional (7.5%) HP:0006101
32 neoplasm of the skin occasional (7.5%) HP:0008069
33 feeding difficulties in infancy occasional (7.5%) HP:0008872
34 recurrent pharyngitis occasional (7.5%) HP:0100776
35 aplasia/hypoplasia of the eyebrow occasional (7.5%) HP:0100840
36 skin ulcer occasional (7.5%) HP:0200042

Drugs & Therapeutics for Ectodermal Dysplasia

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Drug clinical trials:

Search ClinicalTrials for Ectodermal Dysplasia

Search NIH Clinical Center for Ectodermal Dysplasia

Genetic Tests for Ectodermal Dysplasia

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Anatomical Context for Ectodermal Dysplasia

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MalaCards organs/tissues related to Ectodermal Dysplasia:

33
Skin, Bone, T cells, Eye, Brain, Salivary gland, Testes, Breast, B cells, Pituitary, Thymus, Liver, Trachea, Neutrophil

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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Publications for Ectodermal Dysplasia

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Articles related to Ectodermal Dysplasia:

(show top 50)    (show all 815)
idTitleAuthorsYear
1
One Mutation of the ED1 Gene in a Chinese Han Family with X-Linked Hypohidrotic Ectodermal Dysplasia. (24648697)
2014
2
Ectodermal dysplasia associated with sickle cell disease. (25343049)
2014
3
Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia. (23613309)
2013
4
Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene. (22309335)
2012
5
Hypohidrotic ectodermal dysplasia. (23130287)
2012
6
De novo mutation of the bovine EDA gene associated with anhidrotic ectodermal dysplasia in Japanese Black cattle. (22497423)
2012
7
Prevalence of atopic disorders and immunodeficiency in patients with ectodermal dysplasia syndromes. (22626597)
2012
8
Bone microarchitecture at oral implant sites in ectodermal dysplasia (ED): a comparison between males and females. (22106965)
2012
9
Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia. (21771270)
2011
10
Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome. (20944926)
2010
11
Quantification of taurodontism: interests in the early diagnosis of hypohidrotic ectodermal dysplasia. (20374512)
2010
12
The contribution of orthodontics to the prosthodontic treatment of ectodermal dysplasia: a long-term clinical report. (21037191)
2010
13
A novel frameshift mutation of the EDA1 gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia. (18702659)
2009
14
A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma. (19716498)
2009
15
From ectodermal dysplasia to selective tooth agenesis. (19504606)
2009
16
Successful umbilical cord blood transplantation for intractable eczematous eruption in hypohidrotic ectodermal dysplasia with immunodeficiency. (19663838)
2009
17
Mutation screening of the ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. (18231121)
2008
18
Gene symbol: ED1. Disease: Ectodermal dysplasia. (18386310)
2008
19
Three-dimensional sonographic findings associated with ectrodactyly ectodermal dysplasia clefting syndrome. (18096742)
2008
20
Anhidrotic ectodermal dysplasia with palmoplantar keratoderma: an unusual presentation. (17550568)
2007
21
Dental findings in patients with ectodermal dysplasia. (16953354)
2006
22
The management of ectodermal dysplasia and severe hypodontia. International conference statements. (16922735)
2006
23
New genes candidates for ectodermal dysplasia: TAB2, TRAF6 and TAK1]. (16527194)
2006
24
Ectrodactyly, ectodermal dysplasia, macular degeneration syndrome: a further contribution. (16970031)
2006
25
Soft tissue facial angles in individuals with ectodermal dysplasia: A three-dimensional noninvasive study. (16681407)
2006
26
Hay-wells syndrome of ectodermal dysplasia. (16444073)
2006
27
Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome. (16121056)
2005
28
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
29
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. (15213106)
2004
30
Osseointegrated implants in the oral rehabilitation of a patient with cleft lip and palate and ectodermal dysplasia: a case report. (15623068)
2004
31
Craniofacial anthropometric pattern profile in hypohidrotic ectodermal dysplasia--application in detection of gene carriers. (14746168)
2003
32
A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. (12788524)
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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Search GEO for disease gene expression data for Ectodermal Dysplasia.

Pathways for genes affiliated with Ectodermal Dysplasia

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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 pathway60
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response60
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 cascades60
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 pathway60
9.3NFKBIA, IKBKG
16
Show member pathways
Apoptosis and survival Lymphotoxin beta receptor signaling60
9.3NFKBIA, IKBKG
17
Show member pathways
9.3IKBKG, NFKBIA
18
Show member pathways
9.0EDAR, IKBKG, NFKBIA
19
Show member pathways
Proteasome Degradation38
Immune response Antigen presentation by MHC class I60
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 Signaling38
Apoptosis38
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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Sources:
45Novoseek, 51PharmGKB, 26HMDB, 13DrugBank
See all sources

Compounds related to Ectodermal Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arginine457.9NFKBIA, IKBKG, TP63, EDA
2calcium45 51 26 1310.8NFKBIA, PKP1, IKBKG, PVRL1, TP63

GO Terms for genes affiliated with Ectodermal Dysplasia

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

idNameGO IDScoreTop Affiliating Genes
1apical part of cellGO:00451779.9EDAR, EDA
2intracellular membrane-bounded organelleGO:00432319.1PKP1, PVRL1, EDA

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1salivary gland cavitationGO:006066210.2EDA, EDAR
2positive regulation of NF-kappaB import into nucleusGO:004234610.2EDAR, EDA
3pigmentationGO:004347310.2EDA, EDAR
4trachea gland developmentGO:006115310.1EDARADD, EDA
5hair follicle developmentGO:000194210.0EDAR, EDARADD
6epidermis developmentGO:00085449.7EDAR, EDA2R
7positive regulation of type I interferon productionGO:00324819.6NFKBIA, IKBKG
8cell-cell adhesionGO:00163379.6PKP1, PVRL1
9toll-like receptor 5 signaling pathwayGO:00341469.6NFKBIA, IKBKG
10toll-like receptor 10 signaling pathwayGO:00341669.6NFKBIA, IKBKG
11toll-like receptor TLR6:TLR2 signaling pathwayGO:00381249.6IKBKG, NFKBIA
12toll-like receptor TLR1:TLR2 signaling pathwayGO:00381239.6IKBKG, NFKBIA
13toll-like receptor 9 signaling pathwayGO:00341629.6NFKBIA, IKBKG
14immune responseGO:00069559.5EDA, PVRL1, IKBKG
15toll-like receptor 2 signaling pathwayGO:00341349.5NFKBIA, IKBKG
16TRIF-dependent toll-like receptor signaling pathwayGO:00356669.5IKBKG, NFKBIA
17MyD88-dependent toll-like receptor signaling pathwayGO:00027559.5NFKBIA, IKBKG
18MyD88-independent toll-like receptor signaling pathwayGO:00027569.4NFKBIA, IKBKG
19toll-like receptor 3 signaling pathwayGO:00341389.3IKBKG, NFKBIA
20toll-like receptor 4 signaling pathwayGO:00341429.3NFKBIA, IKBKG
21signal transductionGO:00071659.3PKP1, PVRL1, EDARADD, EDA
22cell differentiationGO:00301549.2EDAR, EDARADD, EDA, EDA2R
23T cell receptor signaling pathwayGO:00508529.0NFKBIA, IKBKG
24odontogenesis of dentin-containing toothGO:00424758.9TP63, EDAR, EDARADD, EDA
25positive regulation of NF-kappaB transcription factor activityGO:00510928.9EDA2R, EDA, IKBKG, NFKBIA
26apoptotic processGO:00069157.8EDAR, TP63, IKBKG, PKP1, GJB6, NFKBIA

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055156.6NFKBIA, 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
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet