Summaries for Ectodermal Dysplasia

NIH Rare Diseases : 50 ectodermal dysplasias (ed) are a group of more than 180 disorders that affect the outer layer of tissue of the embryo (ectoderm) that helps make up the skin, sweat glands, hair, teeth, and nails. symptoms of ed can range from mild to severe and may include teeth abnormalities; brittle, sparse or absent hair; abnormal fingernails; inability to perspire (hypohidrosis); various skin problems; and other symptoms. different types of eds are caused by mutations in different genes, and can be inherited in a variety of ways. no cure currently exist for the different types of ed, but many treatments are available to address the individual symptoms. last updated: 7/17/2017

MalaCards based summary : Ectodermal Dysplasia is related to ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant and ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant, and has symptoms including failure to thrive, dysphagia and seizures. An important gene associated with Ectodermal Dysplasia is EDA (Ectodysplasin A), and among its related pathways/superpathways are TRAF Pathway and Cellular Transformation by HTLV1. The drugs Acetylcholine and abobotulinumtoxinA have been mentioned in the context of this disorder. Affiliated tissues include Epidermis and Epidermis, and related phenotypes are endocrine/exocrine gland and integument

Wikipedia : 72 Ectodermal dysplasia is not a single disorder, but a group of syndromes all deriving from abnormalities... more...

Related Diseases for Ectodermal Dysplasia

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

(show top 50) (show all 251)
id Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 33.8 EDAR EDARADD
2 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 33.7 EDAR EDARADD
3 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 33.6 EDAR EDARADD
4 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 33.2 EDA EDAR EDARADD IKBKG
5 cleft lip/palate-ectodermal dysplasia syndrome 12.4
6 ectodermal dysplasia 1, hypohidrotic, x-linked 12.3
7 ectodermal dysplasia/skin fragility syndrome 12.3
8 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 12.3
9 ectodermal dysplasia 2, clouston type 12.3
10 ectodermal dysplasia 3, witkop type 12.3
11 ectodermal dysplasia, ectrodactyly, and macular dystrophy 12.3
12 ectodermal dysplasia, hypohidrotic, with immune deficiency 12.3
13 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 12.2
14 ectodermal dysplasia 4, hair/nail type 12.2
15 hypohidrotic ectodermal dysplasia autosomal recessive 12.2
16 ectodermal dysplasia 7, hair/nail type 12.2
17 ectodermal dysplasia, trichoodontoonychial type 12.2
18 ectodermal dysplasia 9, hair/nail type 12.2
19 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 12.1
20 ectodermal dysplasia-syndactyly syndrome 1 12.1
21 ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency 12.1
22 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 12.1
23 ectodermal dysplasia/short stature syndrome 12.1
24 ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 12.1
25 cerebellar ataxia and ectodermal dysplasia 12.1
26 ectodermal dysplasia 13, hair/tooth type 12.1
27 ectodermal dysplasia 5, hair/nail type 12.1
28 congenital heart defects and ectodermal dysplasia 12.1
29 ectodermal dysplasia 6, hair/nail type 12.1
30 eec syndrome 12.1
31 ectodermal dysplasia with natal teeth, turnpenny type 12.0
32 ectodermal dysplasia and neurosensory deafness 12.0
33 ectodermal dysplasia 8, hair/tooth/nail type 12.0
34 ectodermal dysplasia, hidrotic, christianson-fourie type 12.0
35 congenital ectodermal dysplasia with hearing loss 12.0
36 ectodermal dysplasia mental retardation syndactyly 12.0
37 hidrotic ectodermal dysplasia 2 12.0
38 ectodermal dysplasia bartalos type 12.0
39 ectodermal dysplasia berlin type 12.0
40 ectodermal dysplasia blindness 12.0
41 ectodermal dysplasia intellectual disability cns malformation 12.0
42 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features 12.0
43 syndactyly ectodermal dysplasia cleft lip palate hand foot 12.0
44 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 12.0
45 rapp-hodgkin syndrome 11.9
46 hypohidrotic ectodermal dysplasia with immunodeficiency 11.9
47 arthrogryposis and ectodermal dysplasia 11.9
48 hypohidrotic ectodermal dysplasia, autosomal 11.8
49 ectodermal dysplasia-syndactyly syndrome 2 11.8
50 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum 11.8

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



Diseases related to Ectodermal Dysplasia

Symptoms & Phenotypes for Ectodermal Dysplasia

Human phenotypes related to Ectodermal Dysplasia:

32 (show all 36)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 occasional (7.5%) HP:0001508
2 dysphagia 32 occasional (7.5%) HP:0002015
3 seizures 32 occasional (7.5%) HP:0001250
4 low-set ears 32 occasional (7.5%) HP:0000369
5 cataract 32 occasional (7.5%) HP:0000518
6 photophobia 32 occasional (7.5%) HP:0000613
7 finger syndactyly 32 occasional (7.5%) HP:0006101
8 dry skin 32 hallmark (90%) HP:0000958
9 pili torti 32 occasional (7.5%) HP:0003777
10 recurrent skin infections 32 occasional (7.5%) HP:0001581
11 hypoplastic nipples 32 frequent (33%) HP:0002557
12 fine hair 32 frequent (33%) HP:0002213
13 slow-growing hair 32 hallmark (90%) HP:0002217
14 acanthosis nigricans 32 occasional (7.5%) HP:0000956
15 eczema 32 occasional (7.5%) HP:0000964
16 malignant hyperthermia 32 occasional (7.5%) HP:0002047
17 alopecia of scalp 32 hallmark (90%) HP:0002293
18 ectrodactyly 32 occasional (7.5%) HP:0100257
19 rhinitis 32 occasional (7.5%) HP:0012384
20 visual loss 32 occasional (7.5%) HP:0000572
21 xerostomia 32 occasional (7.5%) HP:0000217
22 wide nose 32 occasional (7.5%) HP:0000445
23 chronic otitis media 32 occasional (7.5%) HP:0000389
24 sinusitis 32 occasional (7.5%) HP:0000246
25 keratoconjunctivitis sicca 32 occasional (7.5%) HP:0001097
26 everted lower lip vermilion 32 occasional (7.5%) HP:0000232
27 oral cleft 32 frequent (33%) HP:0000202
28 conductive hearing impairment 32 occasional (7.5%) HP:0000405
29 hand polydactyly 32 occasional (7.5%) HP:0001161
30 neoplasm of the skin 32 occasional (7.5%) HP:0008069
31 recurrent pharyngitis 32 occasional (7.5%) HP:0100776
32 abnormality of dental morphology 32 hallmark (90%) HP:0006482
33 abnormality of skin pigmentation 32 occasional (7.5%) HP:0001000
34 abnormality of nail color 32 hallmark (90%) HP:0100643
35 absent eyebrow 32 frequent (33%) HP:0002223
36 diffuse palmoplantar hyperkeratosis 32 occasional (7.5%) HP:0007447

MGI Mouse Phenotypes related to Ectodermal Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.43 EDAR EDARADD GJB6 IKBKG NFKBIA TP63
2 integument MP:0010771 9.17 TP63 EDAR EDARADD GJB6 IKBKG NECTIN1

Drugs & Therapeutics for Ectodermal Dysplasia

Drugs for Ectodermal Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 2 51-84-3 187
2 abobotulinumtoxinA Phase 2
3 Cholinergic Agents Phase 2
4 Neuromuscular Agents Phase 2
5 Neurotransmitter Agents Phase 2
6 Anesthetics Phase 2
7 onabotulinumtoxinA Phase 2
8 Peripheral Nervous System Agents Phase 2
9 Pharmaceutical Solutions Phase 2,Phase 1
10 Botulinum Toxins Phase 2
11 Botulinum Toxins, Type A Phase 2
12
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
13
Everolimus Approved Phase 1 159351-69-6 6442177
14
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
15 Anti-Bacterial Agents Phase 1
16 Anti-Infective Agents Phase 1
17 Immunosuppressive Agents Phase 1
18 Antifungal Agents Phase 1
19 Antibiotics, Antitubercular Phase 1
20
Simvastatin Approved 79902-63-9 54454
21 Hydroxymethylglutaryl-CoA Reductase Inhibitors
22 Hypolipidemic Agents
23 Anticholesteremic Agents
24 Lipid Regulating Agents
25 Antimetabolites
26 Immunoglobulins
27 Antibodies

Interventional clinical trials:

(show all 31)

id Name Status NCT ID Phase Drugs
1 Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita Unknown status NCT00936533 Phase 2 Dysport® (Botulinumtoxin A (Btx A));Placebo
2 Phase 2 Study to Evaluate Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200 in Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Completed NCT01775462 Phase 2 EDI200
3 Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin Unknown status NCT02592954 Phase 1 Jojoba oil with broccoli sprout extract;Jojoba oil (placebo)
4 A Phase 1, Open-label, Multicenter, Safety and Pharmacokinetic Study of EDI200 Completed NCT01564225 Phase 1 EDI200
5 Topical Sirolimus for the Treatment of Pachyonychia Congenita (PC) Completed NCT02152007 Phase 1 1% sirolimus cream (TD201 1%)
6 Study of TD101, a Small Interfering RNA (siRNA) Designed for Treatment of Pachyonychia Congenita Completed NCT00716014 Phase 1 TD101;Normal saline (placebo)
7 Simvastatin Treatment of Pachyonychia Congenita Unknown status NCT01382511 Simvastatine
8 Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype Completed NCT01398397
9 Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation Completed NCT01386775
10 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - A Completed NCT01293565
11 Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia Completed NCT01308333
12 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012) Completed NCT01629927
13 Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia: Evaluation of an Early Diagnosis Technology and Tests to Assess Nutritional Status Completed NCT01629940
14 Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia Completed NCT01109290
15 Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia Completed NCT01135888
16 X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction Survey Completed NCT01398813
17 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia Completed NCT01108770
18 Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia Completed NCT02099552
19 Phenotypic Properties in Individuals Affected With XLHED Completed NCT01871714
20 Clinical Study of Oral Endosseous Titanium Implants in Edentulous Subjects Completed NCT00001211
21 Sweat Duct Imaging in Mother/Newborn Dyads Completed NCT01342133
22 Natural History of Asphyxiating Thoracic Dystrophy (DTJ) Completed NCT00948376
23 Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63 Recruiting NCT02896387
24 Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC) Recruiting NCT01630421
25 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
26 International Pachyonychia Congenita Research Registry Recruiting NCT02321423
27 Study of Selected X-linked Disorders: Goltz Syndrome Recruiting NCT00691223
28 Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 Active, not recruiting NCT01992289 EDI200
29 Growth Arrest in Focal Dermal Hypoplasia Active, not recruiting NCT02463656
30 Comparison Between Acrylic and Soft Liner Telescopic Overdentures Regarding Patient Satisfaction Not yet recruiting NCT03127033
31 Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States Terminated NCT00266513

Search NIH Clinical Center for Ectodermal Dysplasia

Genetic Tests for Ectodermal Dysplasia

Anatomical Context for Ectodermal Dysplasia

MalaCards organs/tissues related to Ectodermal Dysplasia:

39
Skin, Bone, Testes, T Cells, Breast, Salivary Gland, Eye
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Ectodermal Dysplasia:
id Tissue Anatomical CompartmentCell Relevance
1 Epidermis Embryonic Epidermis Basal Keratinocytes Affected by disease
2 Epidermis Stratified Epidermis Corneocytes Affected by disease
3 Epidermis Stratified Epidermis Granular Keratinocytes Affected by disease
4 Epidermis Stratified Epidermis Spinous Keratinocytes Affected by disease

Publications for Ectodermal Dysplasia

Articles related to Ectodermal Dysplasia:

(show top 50) (show all 908)
id Title Authors Year
1
Prosthetic rehabilitation in a pediatric patient with hypohidrotic ectodermal dysplasia: a case report. ( 28862593 )
2017
2
A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family. ( 28403827 )
2017
3
Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome. ( 28166087 )
2017
4
Ectodermal dysplasia-skin fragility syndrome with a new mutation. ( 28540868 )
2017
5
Associations between ectodermal dysplasia, psychological distress and quality of life in a group of adults with oligodontia. ( 28754083 )
2017
6
Prosthodontic Rehabilitation of an Ectodermal Dysplasia Patient with Implant Telescopic Crown Attachments. ( 28865133 )
2017
7
Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia. ( 28543635 )
2017
8
Erratum: Ectodermal dysplasia skin fragility syndrome with a new mutation. ( 28584224 )
2017
9
Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands. ( 28498389 )
2017
10
Incontinentia Pigmenti: AA Summary Review of This Rare Ectodermal Dysplasia With Neurologic Manifestations, Including Treatment Protocols. ( 28870493 )
2017
11
A novel 1-bp deletion mutation and extremely skewed X-chromosome inactivation causing severe X-linked hypohidrotic ectodermal dysplasia in a Chinese girl. ( 28940425 )
2017
12
Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency. ( 28629746 )
2017
13
Individualized Plastic Reconstruction Strategy for Patients With Ectodermal Dysplasia Syndrome. ( 28490040 )
2017
14
Implant-supported Oral Rehabilitation in Child with Ectodermal Dysplasia - 4-year Follow-up. ( 28381734 )
2017
15
Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft (EEC) syndrome in a Chinese woman with a TP63 mutation. ( 28420484 )
2017
16
Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia. ( 28045201 )
2017
17
X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation. ( 28877528 )
2017
18
WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation. ( 28589954 )
2017
19
Evaluation of Masticatory Stimulation Effect on the Maxillary Transversal Growth in Ectodermal Dysplasia Children. ( 28377657 )
2017
20
Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development. ( 28553001 )
2017
21
Delayed-onset heat intolerance in a Japanese patient with X-linked hypohidrotic ectodermal dysplasia associated with a large deletion involving four genes. ( 28444782 )
2017
22
A novel EDARADD 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia. ( 26991760 )
2016
23
Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families. ( 27049303 )
2016
24
A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID). ( 27368913 )
2016
25
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias. ( 27469932 )
2016
26
Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome. ( 27151912 )
2016
27
BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency. ( 27411570 )
2016
28
Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients. ( 27657131 )
2016
29
Clinical outcomes of implant therapy in ectodermal dysplasia patients: a systematic review. ( 27052318 )
2016
30
Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation. ( 26964878 )
2016
31
Anticipated stigma and blameless guilt: Mothers' evaluation of life with the sex-linked disorder, hypohidrotic ectodermal dysplasia (XHED). ( 27140840 )
2016
32
Topical cetirizine and oral vitamin D: a valid treatment for hypotrichosis caused by ectodermal dysplasia. ( 27504742 )
2016
33
OCULAR FINDINGS IN A PATIENT WITH ECTODERMAL DYSPLASIA. ( 27930433 )
2016
34
High-Potency Topical Steroids: An Effective Therapy for Chronic Scalp Inflammation in Rapp-Hodgkin Ectodermal Dysplasia. ( 26861896 )
2016
35
Ectodermal Dysplasia: Management of Knife-Edged Irregular Ridge and Its Rehabilitation with Hybrid Implant Prosthesis. ( 27437373 )
2016
36
Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathology. ( 27378689 )
2016
37
Erratum: Dental management of hypohidrotic ectodermal dysplasia: A report of two cases. ( 27041918 )
2016
38
A novel large deletion that encompasses EDA and the downstream gene AWAT2 causes X-linked hypohidrotic/anhidrotic ectodermal dysplasia. ( 27443954 )
2016
39
Keratoprosthesis in Ectodermal Dysplasia. ( 27149534 )
2016
40
Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1. ( 27554337 )
2016
41
Acquired Dermal Melanocytosis Occurring in a Patient with Hypohidrotic Ectodermal Dysplasia. ( 27904288 )
2016
42
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. ( 27137747 )
2016
43
Hypohidrotic ectodermal dysplasia: A report of two cases. ( 27264909 )
2016
44
A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype. ( 27449516 )
2016
45
Tissue expansion for correction of alopecia in a child with hypohidrotic ectodermal dysplasia. ( 27177435 )
2016
46
Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome. ( 27485918 )
2016
47
KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia. ( 27838789 )
2016
48
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements. ( 27305980 )
2016
49
Image Gallery: Periorbital and temporal dermal melanocytosis of hypohidrotic ectodermal dysplasia. ( 27996143 )
2016
50
Prosthetic Management of a Child with Hypohidrotic Ectodermal Dysplasia: 6-Year Follow-Up. ( 27822392 )
2016

Variations for Ectodermal Dysplasia

Expression for Ectodermal Dysplasia

Search GEO for disease gene expression data for Ectodermal Dysplasia.

Pathways for Ectodermal Dysplasia

GO Terms for Ectodermal Dysplasia

Cellular components related to Ectodermal Dysplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 8.92 GJB6 NECTIN1 NECTIN4 PKP1

Biological processes related to Ectodermal Dysplasia according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.88 EDA EDAR EDARADD PKP1 TP63
2 apoptotic process GO:0006915 9.65 EDAR GJB6 IKBKG NFKBIA TP63
3 viral process GO:0016032 9.62 IKBKG NECTIN1 NECTIN4 NFKBIA
4 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.61 EDA EDAR IKBKG
5 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.54 NECTIN1 NECTIN4
6 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.54 EDA IKBKG NFKBIA
7 hair follicle development GO:0001942 9.52 EDAR TP63
8 pigmentation GO:0043473 9.51 EDA EDAR
9 adherens junction organization GO:0034332 9.49 NECTIN1 NECTIN4
10 cell recognition GO:0008037 9.46 NECTIN1 NECTIN4
11 positive regulation of NF-kappaB import into nucleus GO:0042346 9.4 EDA EDAR
12 salivary gland cavitation GO:0060662 9.16 EDA EDAR
13 odontogenesis of dentin-containing tooth GO:0042475 9.13 EDA EDAR TP63
14 tumor necrosis factor-mediated signaling pathway GO:0033209 8.92 EDA EDAR EDARADD NFKBIA

Molecular functions related to Ectodermal Dysplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 receptor activity GO:0004872 8.8 EDAR NECTIN1 NECTIN4

Sources for Ectodermal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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