MCID: ECT006
MIFTS: 62

Ectodermal Dysplasia

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ectodermal Dysplasia

MalaCards integrated aliases for Ectodermal Dysplasia:

Name: Ectodermal Dysplasia 12 74 52 58 29 54 6 15 71 32
Congenital Ectodermal Dysplasia 12
Ectodermal Dysplasia Syndrome 58
Congenital Ectodermal Defect 12
Dysplasia, Ectodermal 39

Characteristics:

Orphanet epidemiological data:

58
ectodermal dysplasia syndrome
Prevalence: 6-9/10000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Ectodermal Dysplasia

NIH Rare Diseases : 52 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 1, hypohidrotic, x-linked and ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive. An important gene associated with Ectodermal Dysplasia is EDAR (Ectodysplasin A Receptor), and among its related pathways/superpathways are WNT Signaling and TRAF Pathway. The drugs Antibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include 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 : 74 Ectodermal dysplasia (ED) is a group of genetic syndromes all deriving from abnormalities of the... more...

Related Diseases for Ectodermal Dysplasia

Diseases in the Ectodermal Dysplasia family:

Ectodermal Dysplasia 10b

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

(show top 50) (show all 588)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 1, hypohidrotic, x-linked 35.5 NECTIN1 GJB6 EDARADD EDAR EDA2R EDA
2 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 35.5 WNT10A NFKBIA NECTIN1 IKBKG GJB6 EDARADD
3 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 35.4 KDF1 EDARADD EDAR EDA2R EDA
4 cleft lip/palate-ectodermal dysplasia syndrome 35.3 TP63 NECTIN4 NECTIN1
5 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 35.3 EDARADD EDAR EDA2R EDA
6 ectodermal dysplasia 4, hair/nail type 35.3 KRT85 KRT74 HOXC13 EDARADD EDAR
7 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 35.2 EDARADD EDAR EDA2R EDA
8 ectodermal dysplasia 7, hair/nail type 35.2 KRT85 KRT74 HOXC13
9 ectodermal dysplasia 9, hair/nail type 35.2 KRT85 KRT74 HOXC13
10 ectodermal dysplasia 6, hair/nail type 35.1 KRT85 KRT74 HOXC13
11 ectodermal dysplasia 5, hair/nail type 35.1 KRT85 KRT74 HOXC13
12 hypohidrotic ectodermal dysplasia autosomal recessive 35.0 WNT10A EDARADD EDAR
13 clouston syndrome 34.9 TP63 NECTIN1 GJB6 EDARADD EDAR
14 ectodermal dysplasia 10b 34.8 EDARADD EDAR EDA2R EDA
15 hypohidrotic ectodermal dysplasia with immunodeficiency 34.7 NFKBIA IKBKG
16 schopf-schulz-passarge syndrome 34.4 WNT10A EDARADD EDAR
17 anodontia 33.6 WNT10A IKBKG EDARADD EDAR EDA2R EDA
18 naegeli-franceschetti-jadassohn syndrome 33.5 KRT85 KRT74
19 anhidrosis 32.4 IKBKG EDARADD EDAR EDA
20 hypotrichosis 32.4 WNT10A KRT74 HOXC13 EDARADD EDAR EDA
21 tooth agenesis 32.0 WNT10A TP63 NECTIN1 KREMEN1 KDF1 IKBKG
22 chromosome 2q35 duplication syndrome 31.9 TP63 NECTIN4 NECTIN1
23 incontinentia pigmenti 31.8 IKBKG EDAR EDA CHUK
24 alopecia 31.3 TP63 KRT85 EDA2R
25 atrophic rhinitis 31.3 EDARADD EDA
26 familial woolly hair syndrome 31.1 PKP1 KRT85 KRT74
27 van der woude syndrome 1 30.8 TP63 NECTIN1 KDF1 GRHL2
28 woolly hair, autosomal dominant 30.6 KRT85 KRT74
29 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 12.9
30 ectodermal dysplasia and immunodeficiency 1 12.9
31 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 12.8
32 ectodermal dysplasia/skin fragility syndrome 12.8
33 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 12.8
34 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 12.8
35 ectodermal dysplasia and immunodeficiency 2 12.7
36 ectodermal dysplasia-syndactyly syndrome 1 12.7
37 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 12.7
38 ectodermal dysplasia, trichoodontoonychial type 12.7
39 ectodermal dysplasia 13, hair/tooth type 12.7
40 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 12.7
41 ectodermal dysplasia 8, hair/tooth/nail type 12.7
42 ectodermal dysplasia/short stature syndrome 12.7
43 cerebellar ataxia and ectodermal dysplasia 12.7
44 immunodeficiency without anhidrotic ectodermal dysplasia 12.6
45 ectodermal dysplasia, hidrotic, christianson-fourie type 12.6
46 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 12.6
47 ectodermal dysplasia with natal teeth, turnpenny type 12.6
48 ectrodactyly and ectodermal dysplasia without cleft lip/palate 12.6
49 ectodermal dysplasia 15, hypohidrotic/hair type 12.6
50 tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities 12.6

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:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
2 abnormality of dental morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0006482
3 slow-growing hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002217
4 abnormality of nail color 58 31 hallmark (90%) Very frequent (99-80%) HP:0100643
5 alopecia of scalp 58 31 hallmark (90%) Very frequent (99-80%) HP:0002293
6 fine hair 58 31 frequent (33%) Frequent (79-30%) HP:0002213
7 hypoplastic nipples 58 31 frequent (33%) Frequent (79-30%) HP:0002557
8 oral cleft 58 31 frequent (33%) Frequent (79-30%) HP:0000202
9 absent eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002223
10 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
11 chronic otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000389
12 photophobia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000613
13 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
14 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
15 sinusitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000246
16 everted lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000232
17 xerostomia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000217
18 abnormality of skin pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001000
19 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
20 malignant hyperthermia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002047
21 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
22 neoplasm of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008069
23 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
24 recurrent pharyngitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100776
25 eczema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000964
26 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
27 acanthosis nigricans 58 31 occasional (7.5%) Occasional (29-5%) HP:0000956
28 wide nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000445
29 keratoconjunctivitis sicca 58 31 occasional (7.5%) Occasional (29-5%) HP:0001097
30 ectrodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0100257
31 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
32 pili torti 58 31 occasional (7.5%) Occasional (29-5%) HP:0003777
33 recurrent skin infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0001581
34 rhinitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012384
35 diffuse palmoplantar hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0007447
36 seizure 31 occasional (7.5%) HP:0001250
37 abnormality of the dentition 58 Very frequent (99-80%)
38 seizures 58 Occasional (29-5%)
39 abnormality of the nail 58 Very frequent (99-80%)
40 abnormality of the skull 58 Occasional (29-5%)
41 abnormality of the face 58 Occasional (29-5%)
42 abnormality of the eye 58 Frequent (79-30%)
43 abnormality of vision 58 Frequent (79-30%)
44 abnormality of the foot 58 Occasional (29-5%)
45 conjunctivitis 58 Occasional (29-5%)
46 keratitis 58 Occasional (29-5%)
47 aplasia/hypoplasia of the eyebrow 58 Occasional (29-5%)
48 recurrent infections 58 Occasional (29-5%)
49 abnormality of the hand 58 Occasional (29-5%)

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 9.58 HOXC13
2 Decreased viability GR00221-A-1 9.58 CHUK
3 Decreased viability GR00221-A-4 9.58 CHUK
4 Decreased viability GR00249-S 9.58 EDARADD HOXC13 KREMEN1 PKP1 TP63 WNT10A
5 Decreased viability GR00342-S-1 9.58 CHUK
6 Decreased viability GR00381-A-1 9.58 GRHL2 KDF1
7 Decreased viability GR00386-A-1 9.58 GJB6 HOXC13 KRT85 NECTIN4
8 Decreased viability GR00402-S-2 9.58 KDF1 PKP1

MGI Mouse Phenotypes related to Ectodermal Dysplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.06 CHUK EDAR EDARADD GRHL2 HOXC13 KDF1
2 growth/size/body region MP:0005378 10.03 CHUK EDAR EDARADD GRHL2 HOXC13 IKBKG
3 endocrine/exocrine gland MP:0005379 9.97 CDH3 CHUK EDAR EDARADD GJB6 IKBKG
4 integument MP:0010771 9.97 CDH3 CHUK EDAR EDARADD GJB6 HOXC13
5 digestive/alimentary MP:0005381 9.91 CHUK EDAR HOXC13 IKBKG KDF1 TP63
6 limbs/digits/tail MP:0005371 9.61 CHUK EDAR EDARADD GRHL2 HOXC13 KDF1
7 skeleton MP:0005390 9.28 CHUK EDAR EDARADD GRHL2 HOXC13 KREMEN1

Drugs & Therapeutics for Ectodermal Dysplasia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies
2 Immunoglobulins

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 A Phase 2 Open-label, Dose-escalation Study to Evaluate the Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200, an EDA-A1 Replacement Protein, Administered to Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Completed NCT01775462 Phase 2 EDI200
2 A Phase 1, Open-label, Multicenter, Safety and Pharmacokinetic Study of EDI200, an Ectodysplasin-A1 Replacement Molecule, in X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Adults Completed NCT01564225 Phase 1 EDI200
3 Patient Satisfaction of Soft Liner Versus Acrylic Resin Telescopes in Complete Overdenture Patients With Ectodermal Dysplasia: Non-Randomized Clinical Trial Unknown status NCT03127033
4 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia Completed NCT01293565
5 Investigation of Chronic Inflammatory Processes in the Respiratory Tract and the Eyes of Male Individuals With X-linked Hypohidrotic Ectodermal Dysplasia Completed NCT01308333
6 Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype Completed NCT01398397
7 Validation of Non-invasive Technologies for the Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia, Their Heterozygous Family Members and Healthy Controls Completed NCT01109290
8 Survey of X-Linked Hypohidrotic Ectodermal Dysplasia Carrier Women's Outlook Towards Reproduction, Potential XLHED Treatments and Genetic Testing Completed NCT01398813
9 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation Completed NCT01386775
10 Phenotypic Properties in Individuals Affected With X-linked Hypohidrotic Ectodermal Dysplasia: Symptoms and Facial Recognition Completed NCT01871714
11 Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia (Christ-Siemens-Touraine Syndrome) Completed NCT01135888
12 Sweat Duct Imaging in Mother/Newborn Dyads Completed NCT01342133
13 Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia Completed NCT02099552
14 Evaluation of Phenotypic and Genetic Properties in Male Subjects With Hypohidrotic Ectodermal Dysplasia and Their Family Members Completed NCT01108770
15 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012) Completed NCT01629927
16 Clinical Study of Oral Endosseous Titanium Implants in Edentulous Subjects Completed NCT00001211
17 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
18 Growth Arrest in Focal Dermal Hypoplasia Completed NCT02463656
19 Ex Vivo and in Vitro Assessment of the Pharmacological Properties of Molecule Prima in the Restoration of Physiological Differentiation of Gene p63 Dependant Epithelium Recruiting NCT02896387
20 Identification of Mutations That Lead to Aplasia Cutis Congenita in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms Recruiting NCT01630421
21 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
22 Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 Active, not recruiting NCT01992289 EDI200
23 Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States Terminated NCT00266513
24 A Cross-Sectional Natural History Study to Evaluate Sweat Volume and Other Phenotypic and Genetic Characteristics in Patients Affected by X-Linked Hypohidrotic XLHED Ectodermal Dysplasia (XLHED) Withdrawn NCT03912792

Search NIH Clinical Center for Ectodermal Dysplasia

Genetic Tests for Ectodermal Dysplasia

Genetic tests related to Ectodermal Dysplasia:

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia 29

Anatomical Context for Ectodermal Dysplasia

MalaCards organs/tissues related to Ectodermal Dysplasia:

40
Skin, Bone, Eye, Testes, Salivary Gland, T Cells, 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 2686)
# Title Authors PMID Year
1
A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasias. 61 54
20424325 2010
2
Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems. 54 61
20486090 2010
3
Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. 61 54
20230788 2010
4
Growth hormone and insulin-like growth factor I insensitivity of fibroblasts isolated from a patient with an I{kappa}B{alpha} mutation. 54 61
20080849 2010
5
X-linked ectodermal dysplasia receptor is downregulated in breast cancer via promoter methylation. 61 54
20145163 2010
6
A mutation of Ikbkg causes immune deficiency without impairing degradation of IkappaB alpha. 61 54
20133626 2010
7
Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation. 61 54
19903181 2010
8
A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma. 54 61
19716498 2009
9
DeltaNp63 knockdown mice: A mouse model for AEC syndrome. 54 61
19681108 2009
10
Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). 54 61
19676060 2009
11
Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. 61 54
19681128 2009
12
From ectodermal dysplasia to selective tooth agenesis. 54 61
19504606 2009
13
[A case of disseminated BCG infection found during treatment of an infant with Crohn's disease]. 54 61
19764466 2009
14
XEDAR as a putative colorectal tumor suppressor that mediates p53-regulated anoikis pathway. 61 54
19543321 2009
15
Letter regarding the article: "R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy" by Valenzise et al. 54 61
19450441 2009
16
Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency. 54 61
18794870 2009
17
Consequences of X-linked hypohidrotic ectodermal dysplasia for the human jaw bone. 61 54
19828977 2009
18
IKKalpha is a p63 transcriptional target involved in the pathogenesis of ectodermal dysplasias. 61 54
18633439 2009
19
Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene. 54 61
18816645 2008
20
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. 61 54
18603493 2008
21
X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families. 61 54
18510547 2008
22
Claudin-1 is a p63 target gene with a crucial role in epithelial development. 61 54
18648642 2008
23
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations. 54 61
18350553 2008
24
X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis. 54 61
18347290 2008
25
Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia. 54 61
17924345 2007
26
A new mutation in TP63 is associated with age-related pathology. 61 54
17609671 2007
27
Adenoviral-mediated gene transfer of ectodysplasin-A2 results in induction of apoptosis and cell-cycle arrest in osteosarcoma cell lines. 61 54
17693991 2007
28
Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency. 61 54
17931563 2007
29
Constraints on utilization of the EDA-signaling pathway in threespine stickleback evolution. 61 54
17371397 2007
30
Homeobox gene Dlx3 is regulated by p63 during ectoderm development: relevance in the pathogenesis of ectodermal dysplasias. 61 54
17164413 2007
31
Impaired dendritic-cell function in ectodermal dysplasia with immune deficiency is linked to defective NEMO ubiquitination. 61 54
16794254 2006
32
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. 61 54
16724007 2006
33
Expression of p63 transcription factor in ectoderm-derived oral tissues. 61 54
17312919 2006
34
Carboxyl terminus of Plakophilin-1 recruits it to plasma membrane, whereas amino terminus recruits desmoplakin and promotes desmosome assembly. 61 54
16632867 2006
35
Exclusion of p63 as a candidate gene for autosomal-dominant amelogenesis imperfecta. 54 61
16546853 2006
36
[New genes candidates for ectodermal dysplasia: TAB2, TRAF6 and TAK1]. 61 54
16527194 2006
37
Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation. 54 61
16333836 2006
38
The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity. 54 61
16319531 2006
39
Ellis-van Creveld syndrome. 61 54
17392984 2006
40
NMR structure of the p63 SAM domain and dynamical properties of G534V and T537P pathological mutants, identified in the AEC syndrome. 54 61
16679535 2006
41
AEC-associated p63 mutations lead to alternative splicing/protein stabilization of p63 and modulation of Notch signaling. 54 61
16177572 2005
42
Spectrum of phenotypic manifestations from a single point mutation of the p63 gene, including new cutaneous and immunologic findings. 61 54
16190990 2005
43
DNA-binding and transactivation activities are essential for TAp63 protein degradation. 54 61
15988026 2005
44
De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome. 61 54
15807690 2005
45
Rapp-Hodgkin syndrome and the tail of p63. 61 54
15725251 2005
46
Genetic mapping of canine multiple system degeneration and ectodermal dysplasia loci. 61 54
15958791 2005
47
ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene. 61 54
15550149 2004
48
Rapp-Hodgkin syndrome. 54 61
15748593 2004
49
A de novo heterozygous point mutation in the p63 gene causing the syndrome of ectrodactyly, ectodermal dysplasia and facial clefting. 54 61
15491445 2004
50
Induction of apoptosis by X-linked ectodermal dysplasia receptor via a caspase 8-dependent mechanism. 61 54
15280356 2004

Variations for Ectodermal Dysplasia

ClinVar genetic disease variations for Ectodermal Dysplasia:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EDAR NM_022336.4(EDAR):c.529+1G>ASNV Pathogenic 504887 rs1553445945 2:109529133-109529133 2:108912677-108912677
2 EDA NM_001399.5(EDA):c.826C>T (p.Arg276Cys)SNV Pathogenic 31908 rs387907197 X:69253280-69253280 X:70033430-70033430

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 23)
# Super pathways Score Top Affiliating Genes
1 12.28 WNT10A KREMEN1 CHUK CDH3
2
Show member pathways
12.16 NFKBIA IKBKG EDAR EDA2R EDA CHUK
3
Show member pathways
11.88 NFKBIA IKBKG CHUK
4 11.86 NFKBIA IKBKG CHUK
5 11.82 NFKBIA IKBKG CHUK
6 11.82 NFKBIA IKBKG CHUK CDH3
7 11.77 NFKBIA IKBKG CHUK
8
Show member pathways
11.72 NFKBIA IKBKG CHUK
9 11.71 NFKBIA IKBKG CHUK
10
Show member pathways
11.65 NFKBIA IKBKG CHUK
11
Show member pathways
11.59 NFKBIA IKBKG CHUK
12 11.53 NFKBIA IKBKG CHUK
13
Show member pathways
11.47 EDARADD EDAR EDA2R EDA
14 11.4 NFKBIA IKBKG CHUK
15
Show member pathways
11.36 NFKBIA IKBKG CHUK
16
Show member pathways
11.26 NFKBIA IKBKG CHUK
17 11.25 NFKBIA IKBKG CHUK
18 11.18 NFKBIA IKBKG EDARADD EDAR EDA2R EDA
19 10.96 NFKBIA IKBKG CHUK
20 10.91 NFKBIA IKBKG CHUK
21 10.82 NFKBIA IKBKG CHUK
22 10.49 IKBKG CHUK
23 10.21 NFKBIA IKBKG CHUK

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 9.63 PKP1 NECTIN4 NECTIN1 KDF1 GJB6 CDH3
2 IkappaB kinase complex GO:0008385 8.96 IKBKG CHUK
3 adherens junction GO:0005912 8.92 PKP1 NECTIN4 NECTIN1 CDH3

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.06 TP63 KDF1 EDARADD EDAR EDA2R EDA
2 cell adhesion GO:0007155 10 PKP1 NECTIN4 NECTIN1 GRHL2 CDH3
3 positive regulation of gene expression GO:0010628 9.96 WNT10A PKP1 EDAR EDA CDH3
4 apoptotic process GO:0006915 9.95 TP63 NFKBIA KREMEN1 IKBKG GJB6 EDAR
5 multicellular organism development GO:0007275 9.85 WNT10A TP63 PKP1 KDF1 HOXC13 EDARADD
6 keratinization GO:0031424 9.83 PKP1 KRT85 KRT74 CDH3
7 cornification GO:0070268 9.77 PKP1 KRT85 KRT74
8 interleukin-1-mediated signaling pathway GO:0070498 9.75 NFKBIA IKBKG CHUK
9 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.73 IKBKG EDA2R EDA CHUK
10 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.72 NFKBIA IKBKG CHUK
11 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.72 IKBKG EDAR EDA2R EDA CHUK
12 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.71 EDARADD EDAR EDA
13 odontogenesis of dentin-containing tooth GO:0042475 9.67 TP63 EDAR EDA
14 epidermis development GO:0008544 9.65 TP63 KRT85 GRHL2 EDAR EDA2R
15 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.61 IKBKG CHUK
16 adherens junction organization GO:0034332 9.58 NECTIN4 NECTIN1 CDH3
17 positive regulation of keratinocyte proliferation GO:0010838 9.57 TP63 CDH3
18 negative regulation of keratinocyte differentiation GO:0045617 9.51 TP63 GRHL2
19 salivary gland cavitation GO:0060662 9.46 EDAR EDA
20 tumor necrosis factor-mediated signaling pathway GO:0033209 9.43 NFKBIA EDARADD EDAR EDA2R EDA CHUK
21 regulation of epidermal cell division GO:0010482 9.37 TP63 KDF1
22 hair follicle development GO:0001942 9.02 WNT10A TP63 HOXC13 EDAR EDA

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 9.26 NECTIN4 NECTIN1 EDAR EDA2R
2 transferrin receptor binding GO:1990459 8.62 IKBKG CHUK

Sources for Ectodermal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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