Aliases & Classifications for Ectodermal Dysplasia

Summaries for Ectodermal Dysplasia

NIH Rare Diseases : 49 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 oral cleft, xerostomia and everted lower lip vermilion. An important gene associated with Ectodermal Dysplasia is EDA (Ectodysplasin A), and among its related pathways/superpathways are Cytokine-cytokine receptor interaction and TRAF Pathway. 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 279)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 34.0 EDAR EDARADD
2 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 33.9 EDAR EDARADD
3 hypohidrotic ectodermal dysplasia autosomal recessive 33.8 EDAR EDARADD
4 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 33.7 EDA EDAR EDARADD IKBKG
5 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 33.7 EDA EDAR EDARADD
6 hypohidrotic ectodermal dysplasia with immunodeficiency 33.2 IKBKG NFKBIA
7 cleft lip/palate-ectodermal dysplasia syndrome 33.1 NECTIN1 NECTIN4 TP63
8 clouston syndrome 32.4 EDA EDAR EDARADD GJB6 TP63
9 anodontia 32.3 EDA EDARADD
10 hypotrichosis 30.0 EDA EDAR EDARADD
11 tooth agenesis 29.7 EDA EDAR EDARADD
12 hypohidrosis 29.6 EDA EDAR EDARADD TP63
13 ectodermal dysplasia 1, hypohidrotic, x-linked 12.6
14 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 12.6
15 ectodermal dysplasia, hypohidrotic, with immune deficiency 12.5
16 ectodermal dysplasia/skin fragility syndrome 12.5
17 ectodermal dysplasia 4, hair/nail type 12.5
18 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 12.4
19 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 12.4
20 ectodermal dysplasia 9, hair/nail type 12.4
21 ectodermal dysplasia-syndactyly syndrome 1 12.4
22 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 12.4
23 ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant 12.4
24 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 12.3
25 ectodermal dysplasia 7, hair/nail type 12.3
26 ectodermal dysplasia, trichoodontoonychial type 12.3
27 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema 12.3
28 immunodeficiency without anhidrotic ectodermal dysplasia 12.3
29 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 12.2
30 tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities 12.2
31 cerebellar ataxia and ectodermal dysplasia 12.2
32 ectodermal dysplasia/short stature syndrome 12.2
33 ectodermal dysplasia 5, hair/nail type 12.2
34 ectodermal dysplasia 6, hair/nail type 12.2
35 ectodermal dysplasia 13, hair/tooth type 12.2
36 ectodermal dysplasia and neurosensory deafness 12.2
37 ectodermal dysplasia with natal teeth, turnpenny type 12.2
38 ectodermal dysplasia 8, hair/tooth/nail type 12.2
39 ectrodactyly and ectodermal dysplasia without cleft lip/palate 12.2
40 congenital heart defects and ectodermal dysplasia 12.2
41 ectodermal dysplasia, hidrotic, christianson-fourie type 12.2
42 congenital ectodermal dysplasia with hearing loss 12.2
43 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features 12.1
44 ectodermal dysplasia-syndactyly syndrome 2 12.1
45 ectodermal dysplasia bartalos type 12.1
46 ectodermal dysplasia berlin type 12.1
47 ectodermal dysplasia blindness 12.1
48 ectodermal dysplasia intellectual disability cns malformation 12.1
49 syndactyly ectodermal dysplasia cleft lip palate hand foot 12.1
50 hidrotic ectodermal dysplasia 2 12.1

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:

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

MGI Mouse Phenotypes related to Ectodermal Dysplasia:

43
# 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 9.23 EDAR EDARADD GJB6 IKBKG NECTIN1 NFKBIA

Drugs & Therapeutics for Ectodermal Dysplasia

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

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

Interventional clinical trials:

(show all 31)

# 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 A Phase 1, Open-label, Multicenter, Safety and Pharmacokinetic Study of EDI200 Completed NCT01564225 Phase 1 EDI200
4 Topical Sirolimus for the Treatment of Pachyonychia Congenita (PC) Completed NCT02152007 Phase 1 1% sirolimus cream (TD201 1%)
5 Study of TD101, a Small Interfering RNA (siRNA) Designed for Treatment of Pachyonychia Congenita Completed NCT00716014 Phase 1 TD101;Normal saline (placebo)
6 Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin Completed NCT02592954 Phase 1 Jojoba oil with broccoli sprout extract;Jojoba oil (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 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012) Completed NCT01629927
12 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
13 Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia Completed NCT01308333
14 X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction Survey Completed NCT01398813
15 Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia Completed NCT01109290
16 Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia Completed NCT01135888
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 Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 Active, not recruiting NCT01992289 EDI200
28 Growth Arrest in Focal Dermal Hypoplasia Active, not recruiting NCT02463656
29 Study of Selected X-linked Disorders: Goltz Syndrome Active, not recruiting NCT00691223
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:

38
Skin, Bone, Testes, T Cells, Salivary Gland, Eye, Brain
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Ectodermal Dysplasia:
# 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 924)
# Title Authors Year
1
A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1. ( 29265343 )
2018
2
A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome. ( 29430627 )
2018
3
Disturbances of dental development distinguish patients with oligodontia-ectodermal dysplasia from isolated oligodontia. ( 29271123 )
2018
4
Two EDA Gene Mutations in Chinese Patients with Hypohidrotic Ectodermal Dysplasia. ( 29444360 )
2018
5
Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis. ( 28981473 )
2017
6
Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia. ( 28045201 )
2017
7
Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia. ( 28543635 )
2017
8
X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation. ( 28877528 )
2017
9
Evaluation of Masticatory Stimulation Effect on the Maxillary Transversal Growth in Ectodermal Dysplasia Children. ( 28377657 )
2017
10
Ectodermal dysplasia-skin fragility syndrome with a new mutation. ( 28540868 )
2017
11
First report on an X-linked hypohidrotic ectodermal dysplasia family with X chromosome inversion: Breakpoint mapping reveals the pathogenic mechanism and preimplantation genetics diagnosis achieves an unaffected birth. ( 29037841 )
2017
12
Prosthodontic rehabilitation with monolithic, multichromatic CAD-CAM complete overdentures in an adolescent patient with ectodermal dysplasia: A clinical report. ( 29150132 )
2017
13
WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation. ( 28589954 )
2017
14
Prosthodontic Rehabilitation of an Ectodermal Dysplasia Patient with Implant Telescopic Crown Attachments. ( 28865133 )
2017
15
Prosthetic rehabilitation in a pediatric patient with hypohidrotic ectodermal dysplasia: a case report. ( 28862593 )
2017
16
SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM? ( 28977327 )
2017
17
Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development. ( 28553001 )
2017
18
Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands. ( 28498389 )
2017
19
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
20
Associations between ectodermal dysplasia, psychological distress and quality of life in a group of adults with oligodontia. ( 28754083 )
2017
21
An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction. ( 29278420 )
2017
22
A novel homozygous missense mutation in HOXC13 leads to autosomal recessive pure hair and nail ectodermal dysplasia. ( 28297138 )
2017
23
Incontinentia Pigmenti: AA Summary Review of This Rare Ectodermal Dysplasia With Neurologic Manifestations, Including Treatment Protocols. ( 28870493 )
2017
24
Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome. ( 28166087 )
2017
25
Delayed-onset heat intolerance in a Japanese patient with X-linked hypohidrotic ectodermal dysplasia associated with a large deletion involving four genes. ( 28444782 )
2017
26
Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia. ( 28993958 )
2017
27
Erratum: Ectodermal dysplasia skin fragility syndrome with a new mutation. ( 28584224 )
2017
28
Impacted Lower Second Permanent Molars at the Ramus and Coronoid Process: A New Clinical Symptom of the WNT10A Mutation in Ectodermal Dysplasia. ( 29403230 )
2017
29
Early implant placement for a patient with ectodermal dysplasia: Thirteen years of clinical care. ( 29195821 )
2017
30
Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency. ( 28629746 )
2017
31
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
32
Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft (EEC) syndrome in a Chinese woman with a TP63 mutation. ( 28420484 )
2017
33
ORAI1 mutations abolishing store-operated Ca<sup>2+</sup>entry cause anhidrotic ectodermal dysplasia with immunodeficiency. ( 29155098 )
2017
34
Implant-supported Oral Rehabilitation in Child with Ectodermal Dysplasia - 4-year Follow-up. ( 28381734 )
2017
35
FOXI2: a possible gene contributing to ectodermal dysplasia. ( 29165300 )
2017
36
Medical sequencing of<i>de novo</i>ectodermal dysplasia in identical twins and evaluation of the potential eligibility for recombinant EDA therapy. ( 29184627 )
2017
37
Individualized Plastic Reconstruction Strategy for Patients With Ectodermal Dysplasia Syndrome. ( 28490040 )
2017
38
Topical cetirizine and oral vitamin D: a valid treatment for hypotrichosis caused by ectodermal dysplasia. ( 27504742 )
2016
39
Anticipated stigma and blameless guilt: Mothers' evaluation of life with the sex-linked disorder, hypohidrotic ectodermal dysplasia (XHED). ( 27140840 )
2016
40
Hypohidrotic ectodermal dysplasia: A report of two cases. ( 27264909 )
2016
41
A novel large deletion that encompasses EDA and the downstream gene AWAT2 causes X-linked hypohidrotic/anhidrotic ectodermal dysplasia. ( 27443954 )
2016
42
Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients. ( 27657131 )
2016
43
Clinical outcomes of implant therapy in ectodermal dysplasia patients: a systematic review. ( 27052318 )
2016
44
Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1. ( 27554337 )
2016
45
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. ( 27137747 )
2016
46
Acquired Dermal Melanocytosis Occurring in a Patient with Hypohidrotic Ectodermal Dysplasia. ( 27904288 )
2016
47
High-Potency Topical Steroids: An Effective Therapy for Chronic Scalp Inflammation in Rapp-Hodgkin Ectodermal Dysplasia. ( 26861896 )
2016
48
Keratoprosthesis in Ectodermal Dysplasia. ( 27149534 )
2016
49
Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome. ( 27485918 )
2016
50
Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families. ( 27049303 )
2016

Variations for Ectodermal Dysplasia

Expression for Ectodermal Dysplasia

Search GEO for disease gene expression data for Ectodermal Dysplasia.

Pathways for Ectodermal Dysplasia

Pathways related to Ectodermal Dysplasia according to KEGG:

36
# Name Kegg Source Accession
1 Cytokine-cytokine receptor interaction hsa04060

GO Terms for Ectodermal Dysplasia

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

(show all 14)
# 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 9.58 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 pigmentation GO:0043473 9.52 EDA EDAR
8 hair follicle development GO:0001942 9.51 EDAR TP63
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 9.43 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:

# Name GO ID Score Top Affiliating Genes
1 receptor activity GO:0004872 9.13 EDAR NECTIN1 NECTIN4
2 identical protein binding GO:0042802 9.02 IKBKG NECTIN1 NECTIN4 NFKBIA TP63

Sources for Ectodermal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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