MCID: ECT006
MIFTS: 56

Ectodermal Dysplasia

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Ectodermal Dysplasia

MalaCards integrated aliases for Ectodermal Dysplasia:

Name: Ectodermal Dysplasia 11 19 58 75 28 53 5 14 71 31
Congenital Ectodermal Dysplasia 11
Ectodermal Dysplasia Syndrome 58
Congenital Ectodermal Defect 11
Dysplasia, Ectodermal 38

Characteristics:


Prevelance:

Ectodermal Dysplasia Syndrome: 6-9/10000 (Worldwide) 58

Age Of Onset:

Ectodermal Dysplasia Syndrome: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:2121
ICD9CM 34 757.31
MeSH 43 D004476
NCIt 49 C84683
SNOMED-CT 68 8654005
ICD10 31 Q82.4
MESH via Orphanet 44 D004476
UMLS via Orphanet 72 C0013575
Orphanet 58 ORPHA79373
UMLS 71 C0013575

Summaries for Ectodermal Dysplasia

GARD: 19 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 genetic changes in different genes, and can be inherited in a variety of ways.

MalaCards based summary: Ectodermal Dysplasia, also known as congenital ectodermal dysplasia, is related to ectodermal dysplasia 1, hypohidrotic, x-linked and clouston syndrome. An important gene associated with Ectodermal Dysplasia is EDA (Ectodysplasin A), and among its related pathways/superpathways are Cytokine Signaling in Immune system and 4-1BB Pathway. The drugs Immunoglobulins, Intravenous and Immunoglobulin G have been mentioned in the context of this disorder. Affiliated tissues include Epidermis, and related phenotypes are Increased shRNA abundance (Z-score > 2) and growth/size/body region

Orphanet: 58 The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.

Disease Ontology: 11 A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.

Wikipedia: 75 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 14 Ectodermal Dysplasia 10b

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

(show top 50) (show all 727)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 1, hypohidrotic, x-linked 33.6 WNT10A TP63 NECTIN1 KDF1 IKBKG GJB6
2 clouston syndrome 33.6 TP63 NECTIN1 GJB6 EVC2
3 cleft lip/palate-ectodermal dysplasia syndrome 33.5 NECTIN4 NECTIN1 CDH3
4 ectodermal dysplasia 4, hair/nail type 33.4 KRT85 HOXC13 EDARADD EDAR EDA
5 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 33.2 EDARADD EDAR
6 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 33.2 WNT10A TP63 RANBP2 NFKBIA NECTIN1 KRT85
7 schopf-schulz-passarge syndrome 33.2 WNT10A KREMEN1 EDARADD EDAR EDA
8 hypohidrotic ectodermal dysplasia with immunodeficiency 33.1 NFKBIA IKBKG
9 ectodermal dysplasia 13, hair/tooth type 33.0 WNT10A KREMEN1
10 ectodermal dysplasia 9, hair/nail type 33.0 KRT85 HOXC13
11 ectodermal dysplasia 7, hair/nail type 33.0 KRT85 HOXC13
12 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 33.0 RANBP2 KDF1 EDARADD EDAR EDA2R EDA
13 ectodermal dysplasia 6, hair/nail type 33.0 KRT85 HOXC13
14 ectodermal dysplasia 5, hair/nail type 32.9 KRT85 HOXC13
15 ectodermal dysplasia 10b 32.9 EDARADD EDAR EDA2R EDA
16 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 32.9 WNT10A RANBP2 EDARADD EDAR EDA2R
17 incontinentia pigmenti 32.6 IKBKG EDAR EDA CHUK
18 hypohidrotic ectodermal dysplasia autosomal recessive 32.6 WNT10A RANBP2 EDARADD EDAR
19 anhidrosis 32.1 EDARADD EDAR EDA
20 hypotrichosis 32.1 WNT10A KDF1 HOXC13 EDARADD EDAR EDA
21 anodontia 32.0 WNT10A KDF1 IKBKG EVC2 EDARADD EDAR
22 tooth agenesis 31.6 WNT10A TP63 RANBP2 NECTIN1 KREMEN1 KDF1
23 chromosome 2q35 duplication syndrome 31.5 TP63 NECTIN4 NECTIN1 EVC2
24 skin disease 31.4 TP63 NFKBIA IKBKG GJB6 CHUK CDH3
25 pompholyx 31.0 NECTIN1 EDARADD EDAR EDA
26 atrophic rhinitis 30.9 EDARADD EDA
27 lacrimal duct obstruction 30.8 TP63 HOXC13
28 familial woolly hair syndrome 30.7 PKP1 KRT85 HOXC13
29 van der woude syndrome 30.4 TP63 NECTIN1 KDF1
30 orofacial cleft 30.4 WNT10A TP63 NECTIN1 EVC2 EDAR
31 ectodermal dysplasia and immunodeficiency 1 12.0
32 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 11.9
33 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 11.8
34 ectodermal dysplasia and immunodeficiency 2 11.8
35 rapp-hodgkin syndrome 11.8
36 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.7
37 ectodermal dysplasia/skin fragility syndrome 11.7
38 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 11.7
39 ectodermal dysplasia-syndactyly syndrome 1 11.7
40 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 11.7
41 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 11.7
42 witkop syndrome 11.7
43 ectodermal dysplasia 14, hair/tooth type, with or without hypohidrosis 11.6
44 ectodermal dysplasia 15, hypohidrotic/hair type 11.6
45 bustos simosa pinto cisternas syndrome 11.6
46 ectodermal dysplasia 8, hair/tooth/nail type 11.6
47 ectodermal dysplasia, trichoodontoonychial type 11.6
48 cerebellar ataxia and ectodermal dysplasia 11.6
49 aredyld 11.6
50 halal setton wang syndrome 11.6

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



Diseases related to Ectodermal Dysplasia

Symptoms & Phenotypes for Ectodermal Dysplasia

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

25 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.2 CDH3 CHUK EDA EDA2R EDAR EDARADD
2 no effect GR00402-S-2 10.2 CDH3 CHUK EDA EDA2R EDAR EDARADD
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10 RANBP2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-109 10 RANBP2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-127 10 CHUK IKBKG
6 Increased shRNA abundance (Z-score > 2) GR00366-A-145 10 NECTIN4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-17 10 CHUK IKBKG
8 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10 RANBP2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10 RANBP2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-212 10 IKBKG
11 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10 IKBKG
12 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10 RANBP2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-34 10 IKBKG
14 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10 CHUK
15 Increased shRNA abundance (Z-score > 2) GR00366-A-53 10 NECTIN4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10 IKBKG
17 Increased shRNA abundance (Z-score > 2) GR00366-A-59 10 RANBP2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-6 10 CHUK
19 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10 CHUK
20 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10 NECTIN4
21 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10 NECTIN4
22 Increased shRNA abundance (Z-score > 2) GR00366-A-89 10 RANBP2

MGI Mouse Phenotypes related to Ectodermal Dysplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 CHUK EDA EDAR EDARADD EVC2 HOXC13
2 endocrine/exocrine gland MP:0005379 10.15 CDH3 CHUK EDA EDAR EDARADD EVC2
3 limbs/digits/tail MP:0005371 10.13 CHUK EDA EDAR EDARADD EVC2 HOXC13
4 digestive/alimentary MP:0005381 9.97 CHUK EDA EDAR EVC2 HOXC13 IKBKG
5 craniofacial MP:0005382 9.96 CHUK EDA EDAR EDARADD EVC2 HOXC13
6 skeleton MP:0005390 9.9 CHUK EDA EDAR EDARADD EVC2 HOXC13
7 mortality/aging MP:0010768 9.8 CHUK EDA EDAR EDARADD EVC2 HOXC13
8 integument MP:0010771 9.5 CDH3 CHUK EDA EDAR EDARADD EVC2

Drugs & Therapeutics for Ectodermal Dysplasia

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins, Intravenous Phase 2
2 Immunoglobulin G Phase 2
3
Melatonin Approved, Nutraceutical, Vet_approved 73-31-4 896
4 Antioxidants
5 Protective Agents
6 Immunoglobulins
7 Antibodies

Interventional clinical trials:

(show all 26)
# 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 Prospective, Open-label, Genotype-match Controlled, Multicenter Clinical Trial to Investigate the Efficacy and Safety of Intra-amniotic ER004 as a Prenatal Treatment for Male Subjects With XLHED Recruiting NCT04980638 Phase 2
3 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
4 Patient Satisfaction of Soft Liner Versus Acrylic Resin Telescopes in Complete Overdenture Patients With Ectodermal Dysplasia: Non-Randomized Clinical Trial Unknown status NCT03127033
5 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012) Completed NCT01629927
6 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
7 Survey of X-Linked Hypohidrotic Ectodermal Dysplasia Carrier Women's Outlook Towards Reproduction, Potential XLHED Treatments and Genetic Testing Completed NCT01398813
8 Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype Completed NCT01398397
9 Phenotypic Properties in Individuals Affected With X-linked Hypohidrotic Ectodermal Dysplasia: Symptoms and Facial Recognition Completed NCT01871714
10 SARS-CoV-2 Infections in Children and Adolescents: Course of COVID-19, Immune Responses, Complications and Long-term Consequences in Entire Households With Members Younger Than 18 Years Completed NCT04741412
11 Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia Completed NCT02099552
12 Evaluation of Phenotypic and Genetic Properties in Male Subjects With Hypohidrotic Ectodermal Dysplasia and Their Family Members Completed NCT01108770
13 Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia (Christ-Siemens-Touraine Syndrome) Completed NCT01135888
14 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
15 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation Completed NCT01386775
16 Sweat Duct Imaging in Mother/Newborn Dyads Completed NCT01342133
17 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia Completed NCT01293565
18 Investigation of Chronic Inflammatory Processes in the Respiratory Tract and the Eyes of Male Individuals With X-linked Hypohidrotic Ectodermal Dysplasia Completed NCT01308333
19 Clinical Study of Oral Endosseous Titanium Implants in Edentulous Subjects Completed NCT00001211
20 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
21 Identification of Mutations That Lead to Aplasia Cutis Congenita in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms Recruiting NCT01630421
22 Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 Active, not recruiting NCT01992289 EDI200
23 Impact of Dysregulation of Core Body Temperature on Sleep in Patients With Hypohidrotic Ectodermal Dysplasia Not yet recruiting NCT05378932
24 Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States Terminated NCT00266513
25 Ex Vivo and in Vitro Assessment of the Pharmacological Properties of Molecule Prima in the Restoration of Physiological Differentiation of Gene p63 Dependant Epithelium Terminated NCT02896387
26 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 28

Anatomical Context for Ectodermal Dysplasia

Organs/tissues related to Ectodermal Dysplasia:

MalaCards : Skin, Salivary Gland, Bone, Eye, Thymus, Temporal Lobe, Tongue
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 2878)
# Title Authors PMID Year
1
Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. 62 5
16435307 2006
2
Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems. 53 62
20486090 2010
3
A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasias. 53 62
20424325 2010
4
Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. 53 62
20230788 2010
5
Growth hormone and insulin-like growth factor I insensitivity of fibroblasts isolated from a patient with an I{kappa}B{alpha} mutation. 53 62
20080849 2010
6
A mutation of Ikbkg causes immune deficiency without impairing degradation of IkappaB alpha. 53 62
20133626 2010
7
X-linked ectodermal dysplasia receptor is downregulated in breast cancer via promoter methylation. 53 62
20145163 2010
8
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. 53 62
19903181 2010
9
Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). 53 62
19676060 2009
10
Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. 53 62
19681128 2009
11
DeltaNp63 knockdown mice: A mouse model for AEC syndrome. 53 62
19681108 2009
12
A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma. 53 62
19716498 2009
13
From ectodermal dysplasia to selective tooth agenesis. 53 62
19504606 2009
14
[A case of disseminated BCG infection found during treatment of an infant with Crohn's disease]. 53 62
19764466 2009
15
XEDAR as a putative colorectal tumor suppressor that mediates p53-regulated anoikis pathway. 53 62
19543321 2009
16
Letter regarding the article: "R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy" by Valenzise et al. 53 62
19450441 2009
17
Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency. 53 62
18794870 2009
18
Consequences of X-linked hypohidrotic ectodermal dysplasia for the human jaw bone. 53 62
19828977 2009
19
IKKalpha is a p63 transcriptional target involved in the pathogenesis of ectodermal dysplasias. 53 62
18633439 2009
20
Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene. 53 62
18816645 2008
21
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. 53 62
18603493 2008
22
X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families. 53 62
18510547 2008
23
Claudin-1 is a p63 target gene with a crucial role in epithelial development. 53 62
18648642 2008
24
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations. 53 62
18350553 2008
25
X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis. 53 62
18347290 2008
26
Adenoviral-mediated gene transfer of ectodysplasin-A2 results in induction of apoptosis and cell-cycle arrest in osteosarcoma cell lines. 53 62
17693991 2007
27
Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia. 53 62
17924345 2007
28
A new mutation in TP63 is associated with age-related pathology. 53 62
17609671 2007
29
Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency. 53 62
17931563 2007
30
Constraints on utilization of the EDA-signaling pathway in threespine stickleback evolution. 53 62
17371397 2007
31
Homeobox gene Dlx3 is regulated by p63 during ectoderm development: relevance in the pathogenesis of ectodermal dysplasias. 53 62
17164413 2007
32
Impaired dendritic-cell function in ectodermal dysplasia with immune deficiency is linked to defective NEMO ubiquitination. 53 62
16794254 2006
33
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. 53 62
16724007 2006
34
Expression of p63 transcription factor in ectoderm-derived oral tissues. 53 62
17312919 2006
35
Carboxyl terminus of Plakophilin-1 recruits it to plasma membrane, whereas amino terminus recruits desmoplakin and promotes desmosome assembly. 53 62
16632867 2006
36
Exclusion of p63 as a candidate gene for autosomal-dominant amelogenesis imperfecta. 53 62
16546853 2006
37
[New genes candidates for ectodermal dysplasia: TAB2, TRAF6 and TAK1]. 53 62
16527194 2006
38
Ellis-van Creveld syndrome. 53 62
17392984 2006
39
NMR structure of the p63 SAM domain and dynamical properties of G534V and T537P pathological mutants, identified in the AEC syndrome. 53 62
16679535 2006
40
Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation. 53 62
16333836 2006
41
The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity. 53 62
16319531 2006
42
AEC-associated p63 mutations lead to alternative splicing/protein stabilization of p63 and modulation of Notch signaling. 53 62
16177572 2005
43
Spectrum of phenotypic manifestations from a single point mutation of the p63 gene, including new cutaneous and immunologic findings. 53 62
16190990 2005
44
DNA-binding and transactivation activities are essential for TAp63 protein degradation. 53 62
15988026 2005
45
De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome. 53 62
15807690 2005
46
Rapp-Hodgkin syndrome and the tail of p63. 53 62
15725251 2005
47
Genetic mapping of canine multiple system degeneration and ectodermal dysplasia loci. 53 62
15958791 2005
48
Rapp-Hodgkin syndrome. 53 62
15748593 2004
49
ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene. 53 62
15550149 2004
50
A de novo heterozygous point mutation in the p63 gene causing the syndrome of ectrodactyly, ectodermal dysplasia and facial clefting. 53 62
15491445 2004

Variations for Ectodermal Dysplasia

ClinVar genetic disease variations for Ectodermal Dysplasia:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EDA NM_001399.5(EDA):c.826C>T (p.Arg276Cys) SNV Pathogenic
31908 rs387907197 GRCh37: X:69253280-69253280
GRCh38: X:70033430-70033430
2 RANBP2, EDAR NM_022336.4(EDAR):c.529+1G>A SNV Pathogenic
504887 rs1553445945 GRCh37: 2:109529133-109529133
GRCh38: 2:108912677-108912677
3 RANBP2, EDAR NM_022336.4(EDAR):c.338G>A (p.Cys113Tyr) SNV Not Provided
986783 rs1475705727 GRCh37: 2:109545672-109545672
GRCh38: 2:108929216-108929216
4 WNT10A NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) SNV Not Provided
4462 rs121908120 GRCh37: 2:219755011-219755011
GRCh38: 2:218890289-218890289
5 WNT10A NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) SNV Not Provided
4461 rs121908119 GRCh37: 2:219747090-219747090
GRCh38: 2:218882368-218882368
6 RANBP2, EDAR NM_022336.4(EDAR):c.803+1G>A SNV Not Provided
5860 rs797044437 GRCh37: 2:109526915-109526915
GRCh38: 2:108910459-108910459

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 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.94 RANBP2 NFKBIA IKBKG EDARADD EDAR EDA2R
2
Show member pathways
12.53 RANBP2 NFKBIA IKBKG CHUK
3 12.27 WNT10A KREMEN1 CHUK CDH3
4
Show member pathways
12.1 NFKBIA IKBKG CHUK
5
Show member pathways
11.86 NFKBIA IKBKG CHUK
6
Show member pathways
11.85 TP63 NFKBIA CHUK
7 11.76 NFKBIA IKBKG CHUK CDH3
8 11.75 CHUK IKBKG NFKBIA
9 11.74 CHUK IKBKG NFKBIA
10
Show member pathways
11.73 NFKBIA IKBKG CHUK
11
Show member pathways
11.71 NFKBIA IKBKG EDARADD EDAR EDA2R EDA
12
Show member pathways
11.7 NFKBIA IKBKG CHUK
13
Show member pathways
11.62 NFKBIA IKBKG CHUK
14
Show member pathways
11.59 CHUK IKBKG NFKBIA
15
Show member pathways
11.53 NFKBIA IKBKG CHUK
16 11.45 NFKBIA IKBKG CHUK
17 11.42 NFKBIA IKBKG CHUK
18 11.4 NFKBIA IKBKG CHUK
19 11.34 NFKBIA IKBKG CHUK
20 11.19 NFKBIA IKBKG CHUK
21 11.17 NFKBIA IKBKG CHUK
22 11 IKBKG CHUK
23 10.97 CHUK IKBKG NFKBIA
24
Show member pathways
10.89 IKBKG CHUK
25 10.71 NFKBIA IKBKG CHUK
26 10.59 NFKBIA CHUK
27 10.58 EDARADD EDAR
28 10.49 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 adherens junction GO:0005912 9.56 PKP1 NECTIN4 NECTIN1 CDH3
2 IkappaB kinase complex GO:0008385 8.92 IKBKG CHUK

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of NF-kappaB transcription factor activity GO:0051092 10.03 IKBKG EDA2R EDA CHUK
2 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.95 NFKBIA IKBKG CHUK
3 odontogenesis of dentin-containing tooth GO:0042475 9.93 TP63 EDAR EDA
4 tumor necrosis factor-mediated signaling pathway GO:0033209 9.88 NFKBIA EDA2R CHUK
5 epidermis development GO:0008544 9.8 TP63 KRT85 EDAR EDA2R
6 cell communication GO:0007154 9.67 KREMEN1 GJB6 EDA
7 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.65 IKBKG EDAR EDA2R EDA CHUK
8 salivary gland cavitation GO:0060662 9.62 EDA EDAR
9 regulation of epidermal cell division GO:0010482 9.46 TP63 KDF1
10 hair follicle development GO:0001942 9.23 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 transferrin receptor binding GO:1990459 8.92 IKBKG CHUK

Sources for Ectodermal Dysplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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