MCID: ECT006
MIFTS: 61

Ectodermal Dysplasia

Categories: Endocrine diseases, Oral diseases, Rare diseases

Aliases & Classifications for Ectodermal Dysplasia

Summaries for Ectodermal Dysplasia

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, also known as congenital 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 Development Angiotensin activation of ERK and TRAF Pathway. The drugs Acetylcholine and Peripheral Nervous System Agents have been mentioned in the context of this disorder. Affiliated tissues include Epidermis and Epidermis, and related phenotypes are low-set ears and finger syndactyly

Disease Ontology : 12 A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.

Wikipedia : 76 Ectodermal dysplasia (ED) is not a single disorder but a group of syndromes all deriving from... 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 307)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 34.3 EDAR EDARADD KDF1
2 ectodermal dysplasia 1, hypohidrotic, x-linked 34.3 EDA EDA2R
3 cleft lip/palate-ectodermal dysplasia syndrome 34.2 NECTIN1 NECTIN4 TP63
4 ectodermal dysplasia 4, hair/nail type 34.1 HOXC13 KRT74 KRT85
5 hypohidrotic ectodermal dysplasia autosomal recessive 34.0 EDAR EDARADD
6 hypohidrotic ectodermal dysplasia with immunodeficiency 33.7 IKBKG NFKBIA
7 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 33.6 CHUK EDA EDA2R EDAR EDARADD IKBKG
8 clouston syndrome 33.5 EDA EDAR EDARADD GJB2 GJB6 TP63
9 anodontia 32.7 EDA EDARADD
10 hypohidrosis 30.5 EDA EDAR EDARADD TP63
11 incontinentia pigmenti 30.4 CHUK EDAR IKBKG
12 hypotrichosis 30.3 CDH3 EDA EDAR EDARADD HOXC13 KRT74
13 tooth agenesis 30.1 CDH3 EDA EDA2R EDAR EDARADD
14 kid syndrome 30.0 GJB2 GJB6
15 lacrimal duct obstruction 30.0 HOXC13 KRT85 TP63
16 ectodermal dysplasia, hypohidrotic, with immune deficiency 12.6
17 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 12.6
18 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 12.6
19 ectodermal dysplasia/skin fragility syndrome 12.6
20 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 12.6
21 ectodermal dysplasia-syndactyly syndrome 1 12.5
22 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 12.5
23 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 12.5
24 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 12.5
25 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 12.5
26 cerebellar ataxia and ectodermal dysplasia 12.5
27 ectodermal dysplasia 7, hair/nail type 12.5
28 ectodermal dysplasia 9, hair/nail type 12.5
29 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema 12.4
30 ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant 12.4
31 ectodermal dysplasia, trichoodontoonychial type 12.4
32 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 12.4
33 ectodermal dysplasia/short stature syndrome 12.4
34 immunodeficiency without anhidrotic ectodermal dysplasia 12.4
35 tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities 12.4
36 ectodermal dysplasia 13, hair/tooth type 12.4
37 ectodermal dysplasia, hidrotic, christianson-fourie type 12.3
38 ectodermal dysplasia 5, hair/nail type 12.3
39 ectodermal dysplasia 6, hair/nail type 12.3
40 congenital heart defects and ectodermal dysplasia 12.3
41 ectodermal dysplasia 8, hair/tooth/nail type 12.3
42 ectrodactyly and ectodermal dysplasia without cleft lip/palate 12.3
43 arthrogryposis and ectodermal dysplasia 12.3
44 ectodermal dysplasia-syndactyly syndrome 2 12.3
45 hidrotic ectodermal dysplasia 2 12.2
46 congenital ectodermal dysplasia with hearing loss 12.2
47 rapp-hodgkin syndrome 12.2
48 witkop syndrome 12.2
49 ectodermal dysplasia and neurosensory deafness 12.1
50 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet 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:

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

GenomeRNAi Phenotypes related to Ectodermal Dysplasia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.07 HOXC13
2 Decreased viability GR00221-A-1 10.07 CHUK
3 Decreased viability GR00221-A-4 10.07 CHUK
4 Decreased viability GR00342-S-1 10.07 CHUK
5 Decreased viability GR00381-A-1 10.07 GRHL2 KDF1
6 Decreased viability GR00402-S-2 10.07 CDH3 CHUK EDA EDA2R EDAR EDARADD
7 no effect GR00402-S-1 9.62 CDH3 CHUK EDA EDA2R EDAR EDARADD

MGI Mouse Phenotypes related to Ectodermal Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 CHUK EDAR EDARADD GJB2 GRHL2 HOXC13
2 integument MP:0010771 10.18 CDH3 CHUK EDAR EDARADD GJB2 GJB6
3 craniofacial MP:0005382 10.09 CHUK EDAR EDARADD GJB2 GRHL2 HOXC13
4 mortality/aging MP:0010768 10.03 CHUK EDAR EDARADD GJB2 GRHL2 HOXC13
5 limbs/digits/tail MP:0005371 9.97 CHUK EDAR EDARADD GJB2 GRHL2 HOXC13
6 reproductive system MP:0005389 9.81 CHUK EDAR EDARADD GJB2 GRHL2 IKBKG
7 skeleton MP:0005390 9.61 CHUK EDAR EDARADD GJB2 GRHL2 HOXC13
8 vision/eye MP:0005391 9.23 CHUK EDAR EDARADD GJB2 GRHL2 HOXC13

Drugs & Therapeutics for Ectodermal Dysplasia

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

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 2 51-84-3 187
2 Peripheral Nervous System Agents Phase 2
3 abobotulinumtoxinA Phase 2
4 Botulinum Toxins Phase 2
5 Neuromuscular Agents Phase 2
6 Acetylcholine Release Inhibitors Phase 2
7 Cholinergic Agents Phase 2
8 onabotulinumtoxinA Phase 2
9 Neurotransmitter Agents Phase 2
10 Anesthetics Phase 2
11 Botulinum Toxins, Type A Phase 2
12 Pharmaceutical Solutions Phase 2,Phase 1
13
Everolimus Approved Phase 1 159351-69-6 6442177
14
Sirolimus Approved, Investigational Phase 1 53123-88-9 46835353 6436030 5284616
15
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
16 Antifungal Agents Phase 1
17 Immunologic Factors Phase 1
18 Antibiotics, Antitubercular Phase 1
19 Immunosuppressive Agents Phase 1
20 Anti-Infective Agents Phase 1
21 Anti-Bacterial Agents Phase 1
22
Simvastatin Approved Not Applicable 79902-63-9 54454
23 Anticholesteremic Agents Not Applicable
24 Lipid Regulating Agents Not Applicable
25 Hydroxymethylglutaryl-CoA Reductase Inhibitors Not Applicable
26 Antimetabolites Not Applicable
27 Hypolipidemic Agents Not Applicable
28 Immunoglobulins
29 Antibodies

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

Genetic Tests for Ectodermal Dysplasia

Anatomical Context for Ectodermal Dysplasia

MalaCards organs/tissues related to Ectodermal Dysplasia:

41
Skin, Bone, Testes, Eye, T Cells, Breast, 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 1179)
# 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
Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia. ( 30289605 )
2018
21
Evolution of Acquired Middle Ear Cholesteatoma in Patients With Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate (EEC) Syndrome. ( 30113563 )
2018
22
Early implant placement for a patient with ectodermal dysplasia: Thirteen years of clinical care. ( 29195821 )
2018
23
19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype. ( 29988626 )
2018
24
Oral Mucosa-Derived Induced Pluripotent Stem Cells from Patients with Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome. ( 29989433 )
2018
25
Genetic diagnosis for X-linked hypohidrotic ectodermal dysplasia family with a novel Ectodysplasin A gene mutation. ( 30006944 )
2018
26
First homozygous large deletion in EDARADD gene associated with a severe form of anhidrotic ectodermal dysplasia. ( 30022538 )
2018
27
Rehabilitation of ectodermal dysplasia patients presenting with hypodontia: outcomes of implant rehabilitation part 1. ( 30054172 )
2018
28
[Combined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia]. ( 30067729 )
2018
29
Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia. ( 30079503 )
2018
30
Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia. ( 30117778 )
2018
31
Two Japanese families with hypohidrotic ectodermal dysplasia: Phenotypic differences between affected individuals. ( 30125999 )
2018
32
An ectodermal dysplasia patient treated with a small diameter implant supporting a single crown. ( 30127647 )
2018
33
Upper cervical spine and craniofacial morphology in hypohidrotic ectodermal dysplasia. ( 30128696 )
2018
34
Management of ectodermal dysplasia with tooth-supported computer-engineered complete overdentures: A clinical report. ( 30139675 )
2018
35
Dental Management and Prosthetic Rehabilitation of Patients Suffering from Hypohidrotic Ectodermal Dysplasia: A Report of Two Case Histories. ( 30192347 )
2018
36
Polymer-Infiltrated-Ceramic-Network, CAD/CAM Restorations for Oral Rehabilitation of Pediatric Patients with X-Linked Ectodermal Dysplasia. ( 30192352 )
2018
37
Clinical, radiographic, and genetic characteristics of hypohidrotic ectodermal dysplasia: A cross-sectional study. ( 30192988 )
2018
38
Ophthalmological findings in ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome: a case report. ( 30208149 )
2018
39
Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion. ( 30240710 )
2018
40
Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency. ( 30243918 )
2018
41
A frameshift variant in the EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia. ( 30276836 )
2018
42
A rare cause of fever of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation. ( 30302989 )
2018
43
The effect of ectodermal dysplasia on volume and surface area of maxillary sinus. ( 30343323 )
2018
44
Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography. ( 30394555 )
2018
45
A de Novo EDA-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia. ( 30397018 )
2018
46
Hypohidrotic Ectodermal Dysplasia: A Rare Disorder with Bilateral Infantile Glaucoma. ( 30540672 )
2018
47
Ectodermal dysplasia-skin fragility syndrome with a new mutation. ( 28540868 )
2017
48
Ectodysplasin A in Biological Fluids and Diagnosis of Ectodermal Dysplasia. ( 28106506 )
2017
49
Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia. ( 28993958 )
2017
50
Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia. ( 28543635 )
2017

Variations for Ectodermal Dysplasia

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

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 GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.73 CHUK EDA EDA2R EDAR IKBKG NFKBIA
2
Show member pathways
12.27 CHUK EDA EDA2R EDAR IKBKG NFKBIA
3
Show member pathways
11.87 CHUK IKBKG NFKBIA
4 11.82 CHUK IKBKG NFKBIA
5 11.79 CDH3 CHUK IKBKG NFKBIA
6 11.75 CHUK IKBKG NFKBIA
7
Show member pathways
11.73 CHUK IKBKG NFKBIA
8 11.72 CHUK IKBKG NFKBIA
9
Show member pathways
11.66 CHUK IKBKG NFKBIA
10
Show member pathways
11.6 CHUK IKBKG NFKBIA
11 11.54 CHUK IKBKG NFKBIA
12 11.5 CHUK IKBKG NFKBIA
13 11.39 CHUK IKBKG NFKBIA
14
Show member pathways
11.33 CHUK IKBKG NFKBIA
15
Show member pathways
11.27 CHUK IKBKG NFKBIA
16 11.22 CHUK IKBKG NFKBIA
17 10.92 CHUK IKBKG NFKBIA
18 10.86 CHUK IKBKG NFKBIA
19 10.65 CHUK IKBKG NFKBIA
20 10.5 CHUK IKBKG
21 10.4 EDA EDA2R EDAR EDARADD
22 10.21 CHUK IKBKG NFKBIA

GO Terms for Ectodermal Dysplasia

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

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.43 GJB2 GJB6 KDF1 NECTIN1 NECTIN4 PKP1
2 apical junction complex GO:0043296 9.26 NECTIN1 NECTIN4
3 IkappaB kinase complex GO:0008385 9.16 CHUK IKBKG
4 cell-cell adherens junction GO:0005913 8.92 CDH3 NECTIN1 NECTIN4 PKP1

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.86 CDH3 KRT74 KRT85 PKP1
2 multicellular organism development GO:0007275 9.86 EDA EDA2R EDAR EDARADD HOXC13 KDF1
3 response to lipopolysaccharide GO:0032496 9.8 CHUK GJB2 GJB6 NFKBIA
4 cornification GO:0070268 9.77 KRT74 KRT85 PKP1
5 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.74 CHUK IKBKG NFKBIA
6 odontogenesis of dentin-containing tooth GO:0042475 9.71 EDA EDAR TP63
7 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.71 CHUK EDA EDA2R IKBKG
8 interleukin-1-mediated signaling pathway GO:0070498 9.69 CHUK IKBKG NFKBIA
9 cell communication GO:0007154 9.63 GJB2 GJB6 KREMEN1
10 establishment of skin barrier GO:0061436 9.61 KDF1 TP63
11 adherens junction organization GO:0034332 9.61 CDH3 NECTIN1 NECTIN4
12 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.58 CHUK IKBKG
13 positive regulation of keratinocyte proliferation GO:0010838 9.58 CDH3 TP63
14 negative regulation of keratinocyte differentiation GO:0045617 9.55 GRHL2 TP63
15 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.55 CHUK EDA EDA2R EDAR IKBKG
16 hair follicle development GO:0001942 9.54 EDAR HOXC13 TP63
17 salivary gland cavitation GO:0060662 9.48 EDA EDAR
18 epidermis development GO:0008544 9.35 EDA2R EDAR GRHL2 KRT85 TP63
19 regulation of epidermal cell division GO:0010482 9.32 KDF1 TP63
20 tumor necrosis factor-mediated signaling pathway GO:0033209 9.1 CHUK EDA EDA2R EDAR EDARADD NFKBIA
21 cell differentiation GO:0030154 10.07 EDA EDA2R EDAR EDARADD KDF1 TP63
22 cell adhesion GO:0007155 10 CDH3 GRHL2 NECTIN1 NECTIN4 PKP1
23 apoptotic process GO:0006915 10 EDAR GJB6 IKBKG KREMEN1 NFKBIA TP63

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.43 GJB2 IKBKG NECTIN1 NECTIN4 NFKBIA TP63
2 signaling receptor activity GO:0038023 8.92 EDA2R EDAR NECTIN1 NECTIN4

Sources for Ectodermal Dysplasia

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
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