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MCID: ECT006
MIFTS: 62

Ectodermal Dysplasia

Categories: Endocrine diseases, Oral diseases, 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 39 12 77 54 56 6 15 74
Congenital Ectodermal Dysplasia 12
Congenital Ectodermal Defect 12

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Endocrine diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 34


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Summaries for Ectodermal Dysplasia

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NIH Rare Diseases : 54 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 dry skin and abnormality of dental morphology

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 : 77 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 324)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 34.5 EDAR EDARADD KDF1
2 ectodermal dysplasia 1, hypohidrotic, x-linked 34.4 EDA EDA2R
3 cleft lip/palate-ectodermal dysplasia syndrome 34.4 NECTIN1 NECTIN4 TP63
4 hypohidrotic ectodermal dysplasia autosomal recessive 34.3 EDAR EDARADD
5 ectodermal dysplasia 4, hair/nail type 34.2 HOXC13 KRT74 KRT85
6 hypohidrotic ectodermal dysplasia with immunodeficiency 33.9 IKBKG NFKBIA
7 clouston syndrome 33.4 EDA EDAR EDARADD GJB2 GJB6 TP63
8 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 33.2 CHUK EDA EDA2R EDAR EDARADD IKBKG
9 anodontia 32.9 EDA EDARADD
10 hypotrichosis 30.5 CDH3 HOXC13 KRT74
11 incontinentia pigmenti 30.4 CHUK EDAR IKBKG
12 kid syndrome 30.1 GJB2 GJB6
13 lacrimal duct obstruction 30.1 HOXC13 KRT85 TP63
14 tooth agenesis 30.0 CDH3 EDA EDA2R EDAR EDARADD
15 ectodermal dysplasia and immunodeficiency 1 12.7
16 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 12.7
17 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 12.6
18 ectodermal dysplasia/skin fragility syndrome 12.6
19 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 12.6
20 ectodermal dysplasia-syndactyly syndrome 1 12.6
21 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 12.5
22 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 12.5
23 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 12.5
24 cerebellar ataxia and ectodermal dysplasia 12.5
25 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 12.5
26 ectodermal dysplasia 7, hair/nail type 12.5
27 ectodermal dysplasia and immunodeficiency 2 12.5
28 ectodermal dysplasia 9, hair/nail type 12.5
29 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema 12.5
30 ectodermal dysplasia, trichoodontoonychial type 12.5
31 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 12.4
32 ectodermal dysplasia/short stature syndrome 12.4
33 immunodeficiency without anhidrotic ectodermal dysplasia 12.4
34 tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities 12.4
35 ectodermal dysplasia 13, hair/tooth type 12.4
36 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 12.4
37 ectodermal dysplasia, hidrotic, christianson-fourie type 12.4
38 ectodermal dysplasia 5, hair/nail type 12.4
39 ectodermal dysplasia 6, hair/nail type 12.4
40 congenital heart defects and ectodermal dysplasia 12.4
41 ectodermal dysplasia 8, hair/tooth/nail type 12.4
42 ectrodactyly and ectodermal dysplasia without cleft lip/palate 12.4
43 arthrogryposis and ectodermal dysplasia 12.3
44 ectodermal dysplasia-syndactyly syndrome 2 12.3
45 hidrotic ectodermal dysplasia 2 12.3
46 congenital ectodermal dysplasia with hearing loss 12.3
47 rapp-hodgkin syndrome 12.3
48 witkop syndrome 12.2
49 ectodermal dysplasia and neurosensory deafness 12.2
50 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet 12.2

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:

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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 CDH3 CHUK EDA EDA2R EDAR EDARADD

MGI Mouse Phenotypes related to Ectodermal Dysplasia:

47
# 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
Sources

Drugs & Therapeutics for Ectodermal Dysplasia

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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, Investigational Phase 2 51-84-3 187
2 Peripheral Nervous System Agents Phase 2
3 Acetylcholine Release Inhibitors Phase 2
4 Botulinum Toxins Phase 2
5 abobotulinumtoxinA Phase 2
6 Pharmaceutical Solutions Phase 2,Phase 1
7 Neurotransmitter Agents Phase 2
8 Anesthetics Phase 2
9 Botulinum Toxins, Type A Phase 2
10 Neuromuscular Agents Phase 2
11 Cholinergic Agents Phase 2
12 Immunoglobulins Phase 2,Phase 1
13 Immunoglobulin Fc Fragments Phase 2,Phase 1
14 Antibodies Phase 2,Phase 1
15 Immunologic Factors Phase 2,Phase 1
16
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
17
Sirolimus Approved, Investigational Phase 1 53123-88-9 46835353 6436030 5284616
18
Everolimus Approved Phase 1 159351-69-6 6442177 70789204
19 Antibiotics, Antitubercular Phase 1
20 Anti-Infective Agents Phase 1
21 Immunosuppressive Agents Phase 1
22 Anti-Bacterial Agents Phase 1
23 Antifungal Agents Phase 1
24
Simvastatin Approved Not Applicable 79902-63-9 54454
25 Hydroxymethylglutaryl-CoA Reductase Inhibitors Not Applicable
26 Anticholesteremic Agents Not Applicable
27 Antimetabolites Not Applicable
28 Lipid Regulating Agents Not Applicable
29 Hypolipidemic Agents Not Applicable

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 Comparison Between Acrylic and Soft Liner Telescopic Overdentures Regarding Patient Satisfaction Unknown status NCT03127033 Not Applicable
8 Simvastatin Treatment of Pachyonychia Congenita Unknown status NCT01382511 Not Applicable Simvastatine
9 Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype Completed NCT01398397
10 Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation Completed NCT01386775
11 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - A Completed NCT01293565
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 Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia Completed NCT01308333
15 X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction Survey Completed NCT01398813
16 Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia Completed NCT01109290
17 Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia Completed NCT01135888
18 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia Completed NCT01108770
19 Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia Completed NCT02099552
20 Phenotypic Properties in Individuals Affected With XLHED Completed NCT01871714
21 Clinical Study of Oral Endosseous Titanium Implants in Edentulous Subjects Completed NCT00001211
22 Sweat Duct Imaging in Mother/Newborn Dyads Completed NCT01342133
23 Growth Arrest in Focal Dermal Hypoplasia Completed NCT02463656
24 Natural History of Asphyxiating Thoracic Dystrophy (DTJ) Completed NCT00948376
25 Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63 Recruiting NCT02896387
26 Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC) Recruiting NCT01630421
27 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
28 International Pachyonychia Congenita Research Registry Recruiting NCT02321423
29 Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 Active, not recruiting NCT01992289 EDI200
30 Study of Selected X-linked Disorders: Goltz Syndrome Active, not recruiting NCT00691223
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:

42
Skin, Bone, Testes, Brain, T Cells, Eye, 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
Sources

Publications for Ectodermal Dysplasia

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Articles related to Ectodermal Dysplasia:

(show top 50) (show all 1393)
# Title Authors Year
1
Dental management of a child with ectrodactyly ectodermal dysplasia cleft lip/palate syndrome: A case report. ( 30720215 )
2019
2
A de Novo EDA-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia. ( 30397018 )
2019
3
GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family. ( 30620052 )
2019
4
Variants of the ectodysplasin A1 receptor gene underlying homozygous cases of autosomal recessive hypohidrotic ectodermal dysplasia. ( 30623979 )
2019
5
Prosthodontic Rehabilitation of a Child with Ectodermal Dysplasia: A Preliminary Report. ( 30677122 )
2019
6
A case of anhidrotic ectodermal dysplasia presenting with pyrexia, atopic eczema, and food allergy. ( 30740351 )
2019
7
Anatomical analysis of zygomatic bone in ectodermal dysplasia patients with oligodontia. ( 30793468 )
2019
8
Morphology of the Meibomian gland evaluated using meibography in patients with hypohidrotic ectodermal dysplasia. ( 30795945 )
2019
9
Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work. ( 30809829 )
2019
10
Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia. ( 29526031 )
2018
11
Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome. ( 29616174 )
2018
12
A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome. ( 29430627 )
2018
13
A novel splicing mutation of ectodysplasin A gene responsible for hypohidrotic ectodermal dysplasia. ( 29676859 )
2018
14
Biallelic mutations of <i>EGFR</i> in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction. ( 29899996 )
2018
15
Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia: A systematic review. ( 29679503 )
2018
16
Dental implants in patients with ectodermal dysplasia: A systematic review. ( 29884311 )
2018
17
IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation. ( 29948576 )
2018
18
A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates. ( 29915774 )
2018
19
Two EDA Gene Mutations in Chinese Patients with Hypohidrotic Ectodermal Dysplasia. ( 29444360 )
2018
20
Hypohidrotic ectodermal dysplasia with strabismus. ( 29573265 )
2018
21
Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia. ( 29694819 )
2018
22
Two cases of hypohidrotic ectodermal dysplasia caused by novel deletion mutations in the EDA gene. ( 29905390 )
2018
23
A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1. ( 29265343 )
2018
24
Disturbances of dental development distinguish patients with oligodontia-ectodermal dysplasia from isolated oligodontia. ( 29271123 )
2018
25
Giant Temporal Lobe Abscess in a Patient With Ectodermal Dysplasia. ( 29794688 )
2018
26
Phenotypic Features and Salivary Parameters in Patients with Ectodermal Dysplasia: Report of Three Cases. ( 29854479 )
2018
27
Hypohidrotic ectodermal dysplasia: clinical and molecular review. ( 29855039 )
2018
28
A heterozygous mutation in the SAM domain of p63 underlies a mild form of ectodermal dysplasia. ( 29526522 )
2018
29
Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia. ( 30289605 )
2018
30
Evolution of Acquired Middle Ear Cholesteatoma in Patients With Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate (EEC) Syndrome. ( 30113563 )
2018
31
19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype. ( 29988626 )
2018
32
Oral Mucosa-Derived Induced Pluripotent Stem Cells from Patients with Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome. ( 29989433 )
2018
33
Genetic diagnosis for X-linked hypohidrotic ectodermal dysplasia family with a novel Ectodysplasin A gene mutation. ( 30006944 )
2018
34
First homozygous large deletion in EDARADD gene associated with a severe form of anhidrotic ectodermal dysplasia. ( 30022538 )
2018
35
Rehabilitation of ectodermal dysplasia patients presenting with hypodontia: outcomes of implant rehabilitation part 1. ( 30054172 )
2018
36
[Combined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia]. ( 30067729 )
2018
37
Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia. ( 30079503 )
2018
38
Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia. ( 30117778 )
2018
39
Two Japanese families with hypohidrotic ectodermal dysplasia: Phenotypic differences between affected individuals. ( 30125999 )
2018
40
An ectodermal dysplasia patient treated with a small diameter implant supporting a single crown. ( 30127647 )
2018
41
Upper cervical spine and craniofacial morphology in hypohidrotic ectodermal dysplasia. ( 30128696 )
2018
42
Management of ectodermal dysplasia with tooth-supported computer-engineered complete overdentures: A clinical report. ( 30139675 )
2018
43
Dental Management and Prosthetic Rehabilitation of Patients Suffering from Hypohidrotic Ectodermal Dysplasia: A Report of Two Case Histories. ( 30192347 )
2018
44
Polymer-Infiltrated-Ceramic-Network, CAD/CAM Restorations for Oral Rehabilitation of Pediatric Patients with X-Linked Ectodermal Dysplasia. ( 30192352 )
2018
45
Clinical, radiographic, and genetic characteristics of hypohidrotic ectodermal dysplasia: A cross-sectional study. ( 30192988 )
2018
46
Ophthalmological findings in ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome: a case report. ( 30208149 )
2018
47
Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion. ( 30240710 )
2018
48
Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency. ( 30243918 )
2018
49
A frameshift variant in the EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia. ( 30276836 )
2018
50
A rare cause of fever of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation. ( 30302989 )
2018
Sources

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 rs1553445945 GRCh37 Chromosome 2, 109529133: 109529133
4 EDAR NM_022336.3(EDAR): c.529+1G> A single nucleotide variant Pathogenic rs1553445945 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 GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Development Angiotensin activation of ERK 23
Show member pathways
 12.73 CHUK EDA EDA2R EDAR IKBKG NFKBIA
2
TRAF Pathway 65
Show member pathways
 12.27 CHUK EDA EDA2R EDAR IKBKG NFKBIA
3
Osteoclast differentiation 38
11.89 CHUK IKBKG NFKBIA
4
MAPK Pathway 73
Show member pathways
 11.87 CHUK IKBKG NFKBIA
5
TNF signaling pathway 38
11.82 CHUK IKBKG NFKBIA
6
G12-G13 in Cellular Signaling 65
11.79 CDH3 CHUK IKBKG NFKBIA
7
NF-kappa B signaling pathway 38
11.75 CHUK IKBKG NFKBIA
8
Cytokine production by Th17 cells in CF (Mouse model) 23
Show member pathways
 11.73 CHUK IKBKG NFKBIA
9
Small cell lung cancer 38
11.72 CHUK IKBKG NFKBIA
10
LT-BetaR Pathway 65
Show member pathways
 11.66 CHUK IKBKG NFKBIA
11
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway 23
Show member pathways
 11.6 CHUK IKBKG NFKBIA
12
Adipocytokine signaling pathway 38
11.54 CHUK IKBKG NFKBIA
13
Shigellosis 38
11.5 CHUK IKBKG NFKBIA
14
Transcription_NF-kB signaling pathway 23
11.39 CHUK IKBKG NFKBIA
15
Cellular Transformation by HTLV1 65
Show member pathways
 11.33 CHUK IKBKG NFKBIA
16
Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins 23
Show member pathways
 11.27 CHUK IKBKG NFKBIA
17
Nucleotide-binding Oligomerization Domain (NOD) pathway 1
11.22 CHUK IKBKG NFKBIA
18
EBV LMP1 signaling 1
10.92 CHUK IKBKG NFKBIA
19
Canonical NF-kappaB pathway 1
10.86 CHUK IKBKG NFKBIA
20
NTHi-Induced Signaling 65
10.65 CHUK IKBKG NFKBIA
21
NLR Proteins 1
10.5 CHUK IKBKG
22
TNFs bind their physiological receptors 67
10.4 EDA EDA2R EDAR EDARADD
23
MAPK and NFkB Signalling Pathways Inhibited by Yersinia YopJ 1
10.21 CHUK 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 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

Sources for Ectodermal Dysplasia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
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47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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