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MCID: ECT006
MIFTS: 57

Ectodermal Dysplasia

Categories: Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Ectodermal Dysplasia

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MalaCards integrated aliases for Ectodermal Dysplasia:

Name: Ectodermal Dysplasia 38 76 53 37 55 6 73

Classifications:

MalaCards categories:
Global: Rare diseases
See all MalaCards categories (disease lists)
ICD10: 33


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Summaries for Ectodermal Dysplasia

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NIH Rare Diseases : 53 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.

MalaCards based summary : Ectodermal Dysplasia is related to ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant and ectodermal dysplasia 1, hypohidrotic, x-linked. An important gene associated with Ectodermal Dysplasia is EDA (Ectodysplasin A), and among its related pathways/superpathways are Cytokine-cytokine receptor interaction and Development Angiotensin activation of ERK. The drugs Acetylcholine and abobotulinumtoxinA have been mentioned in the context of this disorder. Affiliated tissues include Epidermis and Epidermis, and related phenotypes are oral cleft and xerostomia

Wikipedia : 76 Ectodermal dysplasia (ED) is not a single disorder but a group of syndromes all deriving from... more...

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Related Diseases for Ectodermal Dysplasia

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

(show top 50) (show all 285)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 34.6 EDAR EDARADD
2 ectodermal dysplasia 1, hypohidrotic, x-linked 34.4 EDA EDA2R
3 hypohidrotic ectodermal dysplasia autosomal recessive 34.2 EDAR EDARADD
4 hypohidrotic ectodermal dysplasia with immunodeficiency 33.8 IKBKG NFKBIA
5 cleft lip/palate-ectodermal dysplasia syndrome 33.8 NECTIN1 NECTIN4 TP63
6 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 33.3 EDA EDA2R EDAR EDARADD IKBKG
7 clouston syndrome 33.0 EDA EDAR EDARADD GJB6 TP63
8 anodontia 32.9 EDAR EDARADD
9 ectodermal dysplasia 4, hair/nail type 32.2 HOXC13 KRT74 KRT85
10 hypohidrosis 30.2 EDA EDAR EDARADD TP63
11 tooth agenesis 28.9 CDH3 EDA EDA2R EDAR EDARADD
12 lacrimal duct obstruction 28.6 HOXC13 KRT85 TP63
13 hypotrichosis 28.0 CDH3 EDA EDAR EDARADD HOXC13 KRT74
14 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 12.6
15 ectodermal dysplasia, hypohidrotic, with immune deficiency 12.5
16 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 12.5
17 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 12.5
18 ectodermal dysplasia/skin fragility syndrome 12.4
19 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 12.4
20 ectodermal dysplasia-syndactyly syndrome 1 12.4
21 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 12.4
22 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 12.3
23 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 12.3
24 ectodermal dysplasia 7, hair/nail type 12.3
25 ectodermal dysplasia 9, hair/nail type 12.3
26 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema 12.3
27 ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant 12.3
28 ectodermal dysplasia, trichoodontoonychial type 12.3
29 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 12.3
30 ectodermal dysplasia/short stature syndrome 12.2
31 immunodeficiency without anhidrotic ectodermal dysplasia 12.2
32 tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities 12.2
33 cerebellar ataxia and ectodermal dysplasia 12.2
34 ectodermal dysplasia 13, hair/tooth type 12.2
35 ectodermal dysplasia 5, hair/nail type 12.2
36 ectodermal dysplasia 6, hair/nail type 12.2
37 congenital heart defects and ectodermal dysplasia 12.2
38 ectodermal dysplasia 8, hair/tooth/nail type 12.2
39 ectrodactyly and ectodermal dysplasia without cleft lip/palate 12.2
40 ectodermal dysplasia-syndactyly syndrome 2 12.1
41 hidrotic ectodermal dysplasia 2 12.1
42 rapp-hodgkin syndrome 12.1
43 witkop syndrome 12.1
44 arthrogryposis and ectodermal dysplasia 12.0
45 ectodermal dysplasia and neurosensory deafness 12.0
46 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet 12.0
47 ectodermal dysplasia with mental retardation and syndactyly 12.0
48 ectodermal dysplasia with natal teeth, turnpenny type 12.0
49 ectodermal dysplasia, hidrotic, christianson-fourie type 11.9
50 congenital ectodermal dysplasia with hearing loss 11.9

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



Diseases related to Ectodermal Dysplasia
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Symptoms & Phenotypes for Ectodermal Dysplasia

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Human phenotypes related to Ectodermal Dysplasia:

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

MGI Mouse Phenotypes related to Ectodermal Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.5 CDH3 EDAR EDARADD GJB6 IKBKG NFKBIA
2 integument MP:0010771 9.32 CDH3 EDAR EDARADD GJB6 HOXC13 IKBKG
Sources

Drugs & Therapeutics for Ectodermal Dysplasia

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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 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, Type A Phase 2
11 Botulinum Toxins 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 Antibiotics, Antitubercular Phase 1
17 Immunosuppressive Agents Phase 1
18 Anti-Infective Agents Phase 1
19 Antifungal Agents Phase 1
20
Simvastatin Approved Not Applicable 79902-63-9 54454
21 Hydroxymethylglutaryl-CoA Reductase Inhibitors Not Applicable
22 Hypolipidemic Agents Not Applicable
23 Anticholesteremic Agents Not Applicable
24 Lipid Regulating Agents Not Applicable
25 Antimetabolites Not Applicable
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 Not Applicable 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 Growth Arrest in Focal Dermal Hypoplasia Completed NCT02463656
23 Natural History of Asphyxiating Thoracic Dystrophy (DTJ) Completed NCT00948376
24 Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63 Recruiting NCT02896387
25 Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC) Recruiting NCT01630421
26 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
27 International Pachyonychia Congenita Research Registry Recruiting NCT02321423
28 Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 Active, not recruiting NCT01992289 EDI200
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 Not Applicable
31 Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States Terminated NCT00266513

Search NIH Clinical Center for Ectodermal Dysplasia

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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:

41
Skin, Bone, Testes, T Cells, Eye, Brain, Breast
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
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Publications for Ectodermal Dysplasia

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Articles related to Ectodermal Dysplasia:

(show top 50) (show all 971)
# Title Authors Year
1
Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia. ( 29526031 )
2018
2
Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome. ( 29616174 )
2018
3
A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome. ( 29430627 )
2018
4
A novel splicing mutation of ectodysplasin A gene responsible for hypohidrotic ectodermal dysplasia. ( 29676859 )
2018
5
Biallelic mutations of <i>EGFR</i> in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction. ( 29899996 )
2018
6
Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia: A systematic review. ( 29679503 )
2018
7
Dental implants in patients with ectodermal dysplasia: A systematic review. ( 29884311 )
2018
8
IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation. ( 29948576 )
2018
9
A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates. ( 29915774 )
2018
10
Two EDA Gene Mutations in Chinese Patients with Hypohidrotic Ectodermal Dysplasia. ( 29444360 )
2018
11
Hypohidrotic ectodermal dysplasia with strabismus. ( 29573265 )
2018
12
Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia. ( 29694819 )
2018
13
Two cases of hypohidrotic ectodermal dysplasia caused by novel deletion mutations in the EDA gene. ( 29905390 )
2018
14
A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1. ( 29265343 )
2018
15
Disturbances of dental development distinguish patients with oligodontia-ectodermal dysplasia from isolated oligodontia. ( 29271123 )
2018
16
Giant Temporal Lobe Abscess in a Patient With Ectodermal Dysplasia. ( 29794688 )
2018
17
Phenotypic Features and Salivary Parameters in Patients with Ectodermal Dysplasia: Report of Three Cases. ( 29854479 )
2018
18
Hypohidrotic ectodermal dysplasia: clinical and molecular review. ( 29855039 )
2018
19
A heterozygous mutation in the SAM domain of p63 underlies a mild form of ectodermal dysplasia. ( 29526522 )
2018
20
Ectodermal dysplasia-skin fragility syndrome with a new mutation. ( 28540868 )
2017
21
Ectodysplasin A in Biological Fluids and Diagnosis of Ectodermal Dysplasia. ( 28106506 )
2017
22
Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia. ( 28993958 )
2017
23
Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia. ( 28543635 )
2017
24
Impacted Lower Second Permanent Molars at the Ramus and Coronoid Process: A New Clinical Symptom of the WNT10A Mutation in Ectodermal Dysplasia. ( 29403230 )
2017
25
Evaluation of Masticatory Stimulation Effect on the Maxillary Transversal Growth in Ectodermal Dysplasia Children. ( 28377657 )
2017
26
Medical sequencing of<i>de novo</i>ectodermal dysplasia in identical twins and evaluation of the potential eligibility for recombinant EDA therapy. ( 29184627 )
2017
27
Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft (EEC) syndrome in a Chinese woman with a TP63 mutation. ( 28420484 )
2017
28
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
29
Prosthetic rehabilitation in a pediatric patient with hypohidrotic ectodermal dysplasia: a case report. ( 28862593 )
2017
30
ORAI1 mutations abolishing store-operated Ca<sup>2+</sup>entry cause anhidrotic ectodermal dysplasia with immunodeficiency. ( 29155098 )
2017
31
Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis. ( 28981473 )
2017
32
A novel homozygous missense mutation in HOXC13 leads to autosomal recessive pure hair and nail ectodermal dysplasia. ( 28297138 )
2017
33
Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia. ( 28045201 )
2017
34
WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation. ( 28589954 )
2017
35
Prosthodontic rehabilitation with monolithic, multichromatic CAD-CAM complete overdentures in an adolescent patient with ectodermal dysplasia: A clinical report. ( 29150132 )
2017
36
X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation. ( 28877528 )
2017
37
Individualized Plastic Reconstruction Strategy for Patients With Ectodermal Dysplasia Syndrome. ( 28490040 )
2017
38
Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands. ( 28498389 )
2017
39
A Novel Missense Variant in the <i>PVRL4</i> Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child. ( 29456479 )
2017
40
Prosthodontic Rehabilitation of an Ectodermal Dysplasia Patient with Implant Telescopic Crown Attachments. ( 28865133 )
2017
41
Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development. ( 28553001 )
2017
42
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
43
Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency. ( 28629746 )
2017
44
[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia]. ( 28097853 )
2017
45
SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM? ( 28977327 )
2017
46
Delayed-onset heat intolerance in a Japanese patient with X-linked hypohidrotic ectodermal dysplasia associated with a large deletion involving four genes. ( 28444782 )
2017
47
Incontinentia Pigmenti: AA Summary Review of This Rare Ectodermal Dysplasia With Neurologic Manifestations, Including Treatment Protocols. ( 28870493 )
2017
48
Erratum: Ectodermal dysplasia skin fragility syndrome with a new mutation. ( 28584224 )
2017
49
An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction. ( 29278420 )
2017
50
Implant-supported Oral Rehabilitation in Child with Ectodermal Dysplasia - 4-year Follow-up. ( 28381734 )
2017
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Variations for Ectodermal Dysplasia

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ClinVar genetic disease variations for Ectodermal Dysplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EDA NM_001399.4(EDA): c.826C> T (p.Arg276Cys) single nucleotide variant Pathogenic rs387907197 GRCh37 Chromosome X, 69253280: 69253280
2 EDA NM_001399.4(EDA): c.826C> T (p.Arg276Cys) single nucleotide variant Pathogenic rs387907197 GRCh38 Chromosome X, 70033430: 70033430
3 EDAR NM_022336.3(EDAR): c.529+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 2, 109529133: 109529133
4 EDAR NM_022336.3(EDAR): c.529+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 2, 108912677: 108912677
Sources

Expression for Ectodermal Dysplasia

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Search GEO for disease gene expression data for Ectodermal Dysplasia.
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Pathways for Ectodermal Dysplasia

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Pathways related to Ectodermal Dysplasia according to KEGG:

37
# Name Kegg Source Accession
1 Cytokine-cytokine receptor interaction hsa04060

Pathways related to Ectodermal Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Development Angiotensin activation of ERK 22
Show member pathways
 12.42 EDA EDA2R EDAR IKBKG NFKBIA
2
G12-G13 in Cellular Signaling 64
11.42 CDH3 IKBKG NFKBIA
3
EBV LMP1 signaling 1
10.78 IKBKG NFKBIA
4
Canonical NF-kappaB pathway 1
10.73 IKBKG NFKBIA
5
NTHi-Induced Signaling 64
10.64 IKBKG NFKBIA
6
TNFs bind their physiological receptors 66
10.4 EDA EDA2R EDAR EDARADD
7
MAPK and NFkB Signalling Pathways Inhibited by Yersinia YopJ 1
10.03 IKBKG NFKBIA
Sources

GO Terms for Ectodermal Dysplasia

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

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.33 KRT74 KRT85 PKP1
2 catenin complex GO:0016342 8.96 CDH3 NECTIN1
3 cell-cell adherens junction GO:0005913 8.8 CDH3 NECTIN1 NECTIN4

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.91 EDAR GJB6 IKBKG NFKBIA TP63
2 viral process GO:0016032 9.88 IKBKG NECTIN1 NECTIN4 NFKBIA
3 positive regulation of gene expression GO:0010628 9.85 CDH3 EDA EDAR PKP1
4 keratinization GO:0031424 9.76 CDH3 KRT74 KRT85 PKP1
5 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.74 CDH3 NECTIN1 NECTIN4
6 cell-cell adhesion GO:0098609 9.71 CDH3 NECTIN1 PKP1
7 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.71 EDA EDA2R EDAR IKBKG
8 cornification GO:0070268 9.7 KRT74 KRT85 PKP1
9 odontogenesis of dentin-containing tooth GO:0042475 9.65 EDA EDAR TP63
10 tissue development GO:0009888 9.58 EDA2R EDAR
11 cell recognition GO:0008037 9.56 NECTIN1 NECTIN4
12 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.56 EDA EDA2R IKBKG NFKBIA
13 multicellular organism development GO:0007275 9.56 CDH3 EDA EDA2R EDAR EDARADD HOXC13
14 adherens junction organization GO:0034332 9.54 CDH3 NECTIN1 NECTIN4
15 hair follicle development GO:0001942 9.5 EDAR HOXC13 TP63
16 positive regulation of keratinocyte proliferation GO:0010838 9.49 CDH3 TP63
17 epidermis development GO:0008544 9.46 EDA2R EDAR KRT85 TP63
18 salivary gland cavitation GO:0060662 9.43 EDA EDAR
19 tumor necrosis factor-mediated signaling pathway GO:0033209 9.02 EDA EDA2R EDAR EDARADD NFKBIA
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Sources for Ectodermal Dysplasia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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