Ectodermal Dysplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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...

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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:

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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

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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

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Genetic Tests for Ectodermal Dysplasia

Genetic tests related to Ectodermal Dysplasia:

#	Genetic test	Affiliating Genes
1	Ectodermal Dysplasia ²⁸

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Anatomical Context for Ectodermal Dysplasia

Organs/tissues related to Ectodermal Dysplasia:

MalaCards : Skin, Salivary Gland, Bone, Eye, Thymus, Temporal Lobe, Tongue

Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Ectodermal Dysplasia:

#	Tissue Anatomical CompartmentCell	Relevance
1	Epidermis Embryonic Epidermis Basal Keratinocytes	Affected by disease
2	Epidermis Stratified Epidermis Corneocytes	Affected by disease
3	Epidermis Stratified Epidermis Granular Keratinocytes	Affected by disease
4	Epidermis Stratified Epidermis Spinous Keratinocytes	Affected by disease

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Publications for Ectodermal Dysplasia

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	Chassaing N...Vincent MC	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	Khabour OF...Owais AI	20486090	2010
3	A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasias. ⁵³ ⁶²	Moretti F...Costanzo A	20424325	2010
4	Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. ⁵³ ⁶²	Terrinoni A...Melino G	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	Wu S...De Luca F	20080849	2010
6	A mutation of Ikbkg causes immune deficiency without impairing degradation of IkappaB alpha. ⁵³ ⁶²	Siggs OM...Beutler B	20133626	2010
7	X-linked ectodermal dysplasia receptor is downregulated in breast cancer via promoter methylation. ⁵³ ⁶²	Punj V...Chaudhary PM	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	Clements SE...McGrath JA	19903181	2010
9	Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). ⁵³ ⁶²	Rinne T...van Bokhoven H	19676060	2009
10	Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. ⁵³ ⁶²	Julapalli MR...Bree AF	19681128	2009
11	DeltaNp63 knockdown mice: A mouse model for AEC syndrome. ⁵³ ⁶²	Koster MI...Roop DR	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	Balci S...Kandemir B	19716498	2009
13	From ectodermal dysplasia to selective tooth agenesis. ⁵³ ⁶²	Mues GI...D'Souza R	19504606	2009
14	[A case of disseminated BCG infection found during treatment of an infant with Crohn's disease]. ⁵³ ⁶²	Enkai S...Seki M	19764466	2009
15	XEDAR as a putative colorectal tumor suppressor that mediates p53-regulated anoikis pathway. ⁵³ ⁶²	Tanikawa C...Matsuda K	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	van der Zwaag PA...van Tintelen JP	19450441	2009
17	Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency. ⁵³ ⁶²	Fish JD...Bunin N	18794870	2009
18	Consequences of X-linked hypohidrotic ectodermal dysplasia for the human jaw bone. ⁵³ ⁶²	Lesot H...Schmittbuhl M	19828977	2009
19	IKKalpha is a p63 transcriptional target involved in the pathogenesis of ectodermal dysplasias. ⁵³ ⁶²	Marinari B...Costanzo A	18633439	2009
20	Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene. ⁵³ ⁶²	Megarbane H...Smahi A	18816645	2008
21	R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. ⁵³ ⁶²	Valenzise M...Silengo M	18603493	2008
22	X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families. ⁵³ ⁶²	Lexner MO...Hertz JM	18510547	2008
23	Claudin-1 is a p63 target gene with a crucial role in epithelial development. ⁵³ ⁶²	Lopardo T...Guerrini L	18648642	2008
24	Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations. ⁵³ ⁶²	Fusco F...Ursini MV	18350553	2008
25	X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis. ⁵³ ⁶²	Mancini AJ...Uzel G	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	Chang B...Chaudhary PM	17693991	2007
27	Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia. ⁵³ ⁶²	Casal ML...Schneider P	17924345	2007
28	A new mutation in TP63 is associated with age-related pathology. ⁵³ ⁶²	Holder-Espinasse M...Manouvrier-Hanu S	17609671	2007
29	Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency. ⁵³ ⁶²	McDonald DR...Geha RS	17931563	2007
30	Constraints on utilization of the EDA-signaling pathway in threespine stickleback evolution. ⁵³ ⁶²	Knecht AK...Kingsley DM	17371397	2007
31	Homeobox gene Dlx3 is regulated by p63 during ectoderm development: relevance in the pathogenesis of ectodermal dysplasias. ⁵³ ⁶²	Radoja N...Morasso MI	17164413	2007
32	Impaired dendritic-cell function in ectodermal dysplasia with immune deficiency is linked to defective NEMO ubiquitination. ⁵³ ⁶²	Temmerman ST...Jain A	16794254	2006
33	Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. ⁵³ ⁶²	Rinne T...van Bokhoven H	16724007	2006
34	Expression of p63 transcription factor in ectoderm-derived oral tissues. ⁵³ ⁶²	Casasco M...Casasco A	17312919	2006
35	Carboxyl terminus of Plakophilin-1 recruits it to plasma membrane, whereas amino terminus recruits desmoplakin and promotes desmosome assembly. ⁵³ ⁶²	Sobolik-Delmaire T...Wahl JK	16632867	2006
36	Exclusion of p63 as a candidate gene for autosomal-dominant amelogenesis imperfecta. ⁵³ ⁶²	Gu X...Nylander K	16546853	2006
37	[New genes candidates for ectodermal dysplasia: TAB2, TRAF6 and TAK1]. ⁵³ ⁶²	Morlon A...Munnich A	16527194	2006
38	Ellis-van Creveld syndrome. ⁵³ ⁶²	Lichiardopol C...Militaru C	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	Cicero DO...Desideri A	16679535	2006
40	Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation. ⁵³ ⁶²	Orstavik KH...Steen-Johnsen J	16333836	2006
41	The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity. ⁵³ ⁶²	Lo Iacono M...Calabro V	16319531	2006
42	AEC-associated p63 mutations lead to alternative splicing/protein stabilization of p63 and modulation of Notch signaling. ⁵³ ⁶²	Huang YP...Ratovitski EA	16177572	2005
43	Spectrum of phenotypic manifestations from a single point mutation of the p63 gene, including new cutaneous and immunologic findings. ⁵³ ⁶²	Steele JA...Kwong PC	16190990	2005
44	DNA-binding and transactivation activities are essential for TAp63 protein degradation. ⁵³ ⁶²	Ying H...Xiao ZX	15988026	2005
45	De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome. ⁵³ ⁶²	Shotelersuk V...Tongkobpetch S	15807690	2005
46	Rapp-Hodgkin syndrome and the tail of p63. ⁵³ ⁶²	Chan I...Kivirikko S	15725251	2005
47	Genetic mapping of canine multiple system degeneration and ectodermal dysplasia loci. ⁵³ ⁶²	O'Brien DP...Taylor JF	15958791	2005
48	Rapp-Hodgkin syndrome. ⁵³ ⁶²	Kim G...Shin H	15748593	2004
49	ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene. ⁵³ ⁶²	Chan I...McGrath JA	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	Pozo G...Zenteno JC	15491445	2004

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Genes for Ectodermal Dysplasia

Genes related to Ectodermal Dysplasia (3 elite genes):

(show top 50) (show all 90)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	EDA	Ectodysplasin A	Protein Coding	461.69	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	19504606 17371397 18510547 (more) 19828977 11751679 11035039 17924345 11388598 20486090
2	EDAR	Ectodysplasin A Receptor	Protein Coding	460.63	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	16435307 15280356 11035039 (more) 12270937 20145163 11374782 18816645 15958791 17693991 19543321 15013427 19504606 17371397
3	RANBP2	RAN Binding Protein 2	Protein Coding	402.92	Pathogenic ⁵ DISEASES inferred ¹⁴	16435307
4	IKBKG	Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma	Protein Coding	57.58	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries Pathways & Interactions (show sections)	16794254 14764716 18350553 (more) 20133626 18347290 16333836 18794870 19764466
5	PKP1	Plakophilin 1	Protein Coding	56.4	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	15086548 11180229 12839569 (more) 16632867 10635620 10951270
6	TP63	Tumor Protein P63	Protein Coding	47.95	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	11903230 18633439 12766194 (more) 20424325 18603493 17609671 11693108 15369222 19681128 18648642 15606495 15748593 11012604 15550149 12446784 19450441 16724007 16546853 16679535 15988026 15491445 12445213 17312919 16319531 11879774 12939657 19903181 19681108 17164413 16190990 16177572 15807690 14656652 19716498 11462173 19676060 15725251
7	GJB6	Gap Junction Protein Beta 6	Protein Coding	45.94	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)
8	NECTIN1	Nectin Cell Adhesion Molecule 1	Protein Coding	44.08	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)
9	NFKBIA	NFKB Inhibitor Alpha	Protein Coding	40.24	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	17931563 18794870 11224521 (more) 20080849
10	EDARADD	EDAR Associated Death Domain	Protein Coding	37.73	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
11	NECTIN4	Nectin Cell Adhesion Molecule 4	Protein Coding	33.44	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
12	KDF1	Keratinocyte Differentiation Factor 1	Protein Coding	33.1	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
13	CDH3	Cadherin 3	Protein Coding	32.75	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
14	KREMEN1	Kringle Containing Transmembrane Protein 1	Protein Coding	32.35	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
15	CHUK	Component Of Inhibitor Of Nuclear Factor Kappa B Kinase Complex	Protein Coding	27.65	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Pathways & Interactions (show sections)	18633439
16	EDA2R	Ectodysplasin A2 Receptor	Protein Coding	26.5	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15280356 19543321 12270937 (more) 17693991 20145163
17	WNT10A	Wnt Family Member 10A	Protein Coding	25.84	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
18	HOXC13	Homeobox C13	Protein Coding	24.3	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
19	KRT85	Keratin 85	Protein Coding	24.13	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
20	EVC2	EvC Ciliary Complex Subunit 2	Protein Coding	24.08	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	17392984
21	KRT74	Keratin 74	Protein Coding	23.68	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
22	TSPEAR	Thrombospondin Type Laminin G Domain And EAR Repeats	Protein Coding	23.17	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
23	KRT17	Keratin 17	Protein Coding	22.75	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	15102087
24	ORAI1	ORAI Calcium Release-Activated Calcium Modulator 1	Protein Coding	22.72	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
25	GJB2	Gap Junction Protein Beta 2	Protein Coding	22.45	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	17106596 11912510 20230788
26	GRHL2	Grainyhead Like Transcription Factor 2	Protein Coding	22.36	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
27	TUBA3C	Tubulin Alpha 3c	Protein Coding	21.68	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
28	MAP3K7	Mitogen-Activated Protein Kinase Kinase Kinase 7	Protein Coding	21.26	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
29	AIRE	Autoimmune Regulator	Protein Coding	20.59	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	12542742
30	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	19.65	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
31	TRAF6	TNF Receptor Associated Factor 6	Protein Coding	18.74	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16527194
32	EEC1	Ectrodactyly, Ectodermal Dysplasia And Cleft Lip/Palate Syndrome 1	Genetic Locus	17.73	GeneCards inferred via : Publications Gene name (show sections)
33	TNFRSF1A	TNF Receptor Superfamily Member 1A	Protein Coding	15.63	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	19543321
34	MSX1	Msh Homeobox 1	Protein Coding	15.29	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
35	KRT14	Keratin 14	Protein Coding	14.66	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
36	STIM1	Stromal Interaction Molecule 1	Protein Coding	14.22	DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)
37	COL11A1	Collagen Type XI Alpha 1 Chain	Protein Coding	14.11	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
38	AXIN2	Axin 2	Protein Coding	14.09	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
39	DSP	Desmoplakin	Protein Coding	14.01	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
40	LEF1	Lymphoid Enhancer Binding Factor 1	Protein Coding	13.63	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
41	KRT16	Keratin 16	Protein Coding	13.55	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
42	TAB2	TGF-Beta Activated Kinase 1 (MAP3K7) Binding Protein 2	Protein Coding	13.55	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
43	IKBKB	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta	Protein Coding	13.51	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
44	GJB4	Gap Junction Protein Beta 4	Protein Coding	13.46	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
45	GJA1	Gap Junction Protein Alpha 1	Protein Coding	13.24	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
46	GJB3	Gap Junction Protein Beta 3	Protein Coding	13.22	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
47	DSG1	Desmoglein 1	Protein Coding	13.02	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
48	TWIST2	Twist Family BHLH Transcription Factor 2	Protein Coding	12.95	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
49	TRAF3	TNF Receptor Associated Factor 3	Protein Coding	12.92	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
50	RELA	RELA Proto-Oncogene, NF-KB Subunit	Protein Coding	12.92	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)

Sources

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

Sources

Expression for Ectodermal Dysplasia

Search GEO for disease gene expression data for Ectodermal Dysplasia.

Sources

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	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	12.94	RANBP2 NFKBIA IKBKG EDARADD EDAR EDA2R
2	4-1BB Pathway ⁶⁴ Show member pathways CD27 Pathway ⁶⁴ CD40 Signaling ⁶⁴ CMV and MAPK Pathways ⁶⁴ NF-KappaB Activation by EBV ⁶⁴ NF-kappaB Activation by Viruses ⁶⁴ PKR Pathway ⁶⁴ SUMO Pathway ⁶⁴ TNFR2 Pathway ⁶⁴	12.53	RANBP2 NFKBIA IKBKG CHUK
3	WNT Signaling ⁶⁴	12.27	WNT10A KREMEN1 CHUK CDH3
4	BAFF in B-Cell Signaling ⁶⁴ Show member pathways Apoptosis and survival APRIL and BAFF signaling ²² APRIL Pathway ⁶⁴ RANK Pathway ⁶⁴ RANK Signaling in Osteoclasts ⁶⁴	12.1	NFKBIA IKBKG CHUK
5	MAPK Pathway ⁷⁰ Show member pathways Toll-like Receptor Pathway ⁷⁰	11.86	NFKBIA IKBKG CHUK
6	Development Notch Signaling Pathway ²² Show member pathways Development NOTCH1-mediated pathway for NF-KB activity modulation ²²	11.85	TP63 NFKBIA CHUK
7	G12-G13 in Cellular Signaling ⁶⁴	11.76	NFKBIA IKBKG CHUK CDH3
8	CCL18 signaling pathway ⁷⁴	11.75	CHUK IKBKG NFKBIA
9	Small cell lung cancer ⁷⁴	11.74	CHUK IKBKG NFKBIA
10	Host-pathogen interaction of human coronaviruses - interferon induction ⁷⁴ Show member pathways Peginterferon alpha-2a/Peginterferon alpha-2b Pathway (Hepatocyte), Pharmacodynamics ⁶⁰ SARS coronavirus and innate immunity ⁷⁴ Type I interferon induction and signaling during SARS-CoV-2 infection ⁷⁴	11.73	NFKBIA IKBKG CHUK
11	TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions ⁶⁵ Show member pathways 14-3-3 Induced Apoptosis ⁶⁴ TNF Superfamily Pathway ⁶⁴ TNFs bind their physiological receptors ⁶⁶ TRAF Pathway ⁶⁴	11.71	NFKBIA IKBKG EDARADD EDAR EDA2R EDA
12	Cytokine production by Th17 cells in CF (Mouse model) ²² Show member pathways Cytokine production by Th17 cells in CF ²²	11.7	NFKBIA IKBKG CHUK
13	LT-BetaR Pathway ⁶⁴ Show member pathways Apoptosis and survival Lymphotoxin-beta receptor signaling ²²	11.62	NFKBIA IKBKG CHUK
14	Activation of NF-KappaB by PKR ⁶⁴ Show member pathways Canonical NF-kB pathway ⁷⁴ Cellular Transformation by HTLV1 ⁶⁴ Inhibition of PKR ⁶⁶ STING pathway in Kawasaki-like disease and COVID-19 ⁷⁴	11.59	CHUK IKBKG NFKBIA
15	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway ²² Show member pathways Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway ²²	11.53	NFKBIA IKBKG CHUK
16	BCR signaling pathway ⁶¹	11.45	NFKBIA IKBKG CHUK
17	Transcriptional Regulatory Network in Embryonic Stem Cell ⁶⁴	11.42	NFKBIA IKBKG CHUK
18	THC Differentiation Pathway ⁶⁴	11.4	NFKBIA IKBKG CHUK
19	Transcription_NF-kB signaling pathway ²²	11.34	NFKBIA IKBKG CHUK
20	Nucleotide-binding oligomerization domain (NOD) pathway ⁷⁴	11.19	NFKBIA IKBKG CHUK
21	Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins ²²	11.17	NFKBIA IKBKG CHUK
22	Estrogen signaling pathway ⁷⁴	11	IKBKG CHUK
23	Antiviral and anti-inflammatory effects of Nrf2 on SARS-CoV-2 pathway ⁷⁴	10.97	CHUK IKBKG NFKBIA
24	IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) ⁶⁶ Show member pathways Brain-derived neurotrophic factor (BDNF) signaling pathway ⁷⁴ IKBKB deficiency causes SCID ⁶⁶ Nod-like receptor (NLR) signaling pathway ⁷⁴	10.89	IKBKG CHUK
25	Canonical NF-kappaB pathway ⁶¹	10.71	NFKBIA IKBKG CHUK
26	Neuroinflammation ⁷⁴	10.59	NFKBIA CHUK
27	EDA signaling in hair follicle development ⁷⁴	10.58	EDARADD EDAR
28	Ebstein-Barr virus LMP1 signaling ⁷⁴	10.49	NFKBIA IKBKG CHUK

Sources

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

Sources for Ectodermal Dysplasia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: ECT006 MIFTS: 56	Ectodermal Dysplasia Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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