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MCID: ECT006
MIFTS: 63

Ectodermal Dysplasia

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin 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 12 74 20 58 36 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:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Skin diseases Endocrine diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


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Summaries for Ectodermal Dysplasia

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GARD : 20 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 10b, hypohidrotic/hair/tooth type, autosomal recessive 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 WNT Signaling and TRAF Pathway. The drugs Immunoglobulins and Antibodies 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.

KEGG : 36 Ectodermal dysplasias (ECTD) are a heterogeneous group of disorders characterized by a deficiency of ectodermally derived tissues, including hair, skin, teeth, and sweat glands. These conditions feature various combinations which demarcate the various subtypes.

Wikipedia : 74 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

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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 586)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 33.7 WNT10A NFKBIA NECTIN1 IKBKG GJB6 EDARADD
2 ectodermal dysplasia 1, hypohidrotic, x-linked 33.6 WNT10A NECTIN1 GJB6 EDARADD EDAR EDA2R
3 clouston syndrome 33.6 TP63 NECTIN1 GJB6
4 cleft lip/palate-ectodermal dysplasia syndrome 33.6 TP63 NECTIN4 NECTIN1
5 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 33.5 KDF1 EDARADD EDAR EDA2R EDA
6 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 33.4 EDARADD EDAR EDA2R EDA
7 ectodermal dysplasia 4, hair/nail type 33.4 KRT85 KRT74 HOXC13 EDARADD EDAR
8 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 33.4 EDARADD EDAR EDA2R EDA
9 ectodermal dysplasia 7, hair/nail type 33.3 KRT85 KRT74 HOXC13
10 ectodermal dysplasia 9, hair/nail type 33.3 KRT85 KRT74 HOXC13
11 ectodermal dysplasia 6, hair/nail type 33.1 KRT85 KRT74 HOXC13
12 ectodermal dysplasia 5, hair/nail type 33.1 KRT85 KRT74 HOXC13
13 schopf-schulz-passarge syndrome 33.1 WNT10A EDARADD EDAR
14 hypohidrotic ectodermal dysplasia autosomal recessive 33.0 WNT10A EDARADD EDAR
15 ectodermal dysplasia 10b 32.9 EDARADD EDAR EDA2R EDA
16 anhidrosis 32.1 IKBKG EDARADD EDAR EDA
17 hypotrichosis 32.0 WNT10A KRT74 HOXC13 EDARADD EDAR EDA
18 anodontia 32.0 WNT10A IKBKG EDARADD EDAR EDA2R EDA
19 tooth agenesis 31.7 WNT10A TP63 NECTIN1 KREMEN1 KDF1 IKBKG
20 incontinentia pigmenti 31.5 IKBKG EDAR EDA CHUK
21 atrophic rhinitis 31.0 EDARADD EDA
22 familial woolly hair syndrome 30.8 PKP1 KRT85 KRT74
23 orofacial cleft 8 30.5 TP63 EDAR CDH3
24 van der woude syndrome 1 30.5 TP63 NECTIN1 KDF1 GRHL2
25 woolly hair, autosomal dominant 30.3 KRT85 KRT74
26 hypotrichosis, congenital, with juvenile macular dystrophy 30.2 KRT74 CDH3
27 ectodermal dysplasia and immunodeficiency 1 11.9
28 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 11.8
29 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 11.8
30 ectodermal dysplasia/skin fragility syndrome 11.8
31 rapp-hodgkin syndrome 11.7
32 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.7
33 witkop syndrome 11.7
34 ectodermal dysplasia and immunodeficiency 2 11.7
35 ectodermal dysplasia-syndactyly syndrome 1 11.7
36 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 11.7
37 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 11.6
38 ectodermal dysplasia 13, hair/tooth type 11.6
39 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 11.6
40 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 11.6
41 ectodermal dysplasia 15, hypohidrotic/hair type 11.6
42 cerebellar ataxia and ectodermal dysplasia 11.6
43 ectodermal dysplasia 8, hair/tooth/nail type 11.6
44 congenital heart defects and ectodermal dysplasia 11.6
45 ectodermal dysplasia/short stature syndrome 11.6
46 immunodeficiency without anhidrotic ectodermal dysplasia 11.5
47 aredyld 11.5
48 focal facial dermal dysplasia 3, setleis type 11.5
49 ectodermal dysplasia, hidrotic, christianson-fourie type 11.5
50 lelis syndrome 11.5

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:

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 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
11 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
12 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
13 chronic otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000389
14 photophobia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000613
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 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
18 malignant hyperthermia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002047
19 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
20 neoplasm of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008069
21 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
22 recurrent pharyngitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100776
23 eczema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000964
24 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
25 acanthosis nigricans 58 31 occasional (7.5%) Occasional (29-5%) HP:0000956
26 wide nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000445
27 abnormality of skin pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001000
28 keratoconjunctivitis sicca 58 31 occasional (7.5%) Occasional (29-5%) HP:0001097
29 ectrodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0100257
30 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
31 xerostomia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000217
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 seizures 58 Occasional (29-5%)
38 abnormality of the dentition 58 Very frequent (99-80%)
39 abnormality of the nail 58 Very frequent (99-80%)
40 abnormal skull morphology 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.02 CHUK EDAR EDARADD GRHL2 HOXC13 KDF1
2 integument MP:0010771 9.97 CDH3 CHUK EDAR EDARADD GJB6 HOXC13
3 endocrine/exocrine gland MP:0005379 9.91 CDH3 CHUK EDAR EDARADD GJB6 IKBKG
4 digestive/alimentary MP:0005381 9.87 CHUK EDAR HOXC13 IKBKG KDF1 TP63
5 limbs/digits/tail MP:0005371 9.61 CHUK EDAR EDARADD GRHL2 HOXC13 KDF1
6 skeleton MP:0005390 9.28 CHUK EDAR EDARADD GRHL2 HOXC13 KREMEN1
Sources

Drugs & Therapeutics for Ectodermal Dysplasia

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


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

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 Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia (Christ-Siemens-Touraine Syndrome) Completed NCT01135888
6 Evaluation of Phenotypic and Genetic Properties in Male Subjects With Hypohidrotic Ectodermal Dysplasia and Their Family Members Completed NCT01108770
7 Phenotypic Properties in Individuals Affected With X-linked Hypohidrotic Ectodermal Dysplasia: Symptoms and Facial Recognition Completed NCT01871714
8 Survey of X-Linked Hypohidrotic Ectodermal Dysplasia Carrier Women's Outlook Towards Reproduction, Potential XLHED Treatments and Genetic Testing Completed NCT01398813
9 Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype Completed NCT01398397
10 Sweat Duct Imaging in Mother/Newborn Dyads Completed NCT01342133
11 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation Completed NCT01386775
12 Investigation of Chronic Inflammatory Processes in the Respiratory Tract and the Eyes of Male Individuals With X-linked Hypohidrotic Ectodermal Dysplasia Completed NCT01308333
13 Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia Completed NCT02099552
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 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
16 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012) Completed NCT01629927
17 Clinical Study of Oral Endosseous Titanium Implants in Edentulous Subjects Completed NCT00001211
18 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 Recruiting NCT04741412
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 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 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

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Genetic Tests for Ectodermal Dysplasia

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Genetic tests related to Ectodermal Dysplasia:

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia 29
Sources

Anatomical Context for Ectodermal Dysplasia

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MalaCards organs/tissues related to Ectodermal Dysplasia:

40
Skin, Eye, Salivary Gland, Breast, Thymus, Kidney, Bone
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 2725)
# Title Authors PMID Year
1
A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasias. 54 61
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. 54 61
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. 61 54
20080849 2010
5
X-linked ectodermal dysplasia receptor is downregulated in breast cancer via promoter methylation. 54 61
20145163 2010
6
A mutation of Ikbkg causes immune deficiency without impairing degradation of IkappaB alpha. 54 61
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. 61 54
19681108 2009
10
Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. 54 61
19681128 2009
11
Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). 61 54
19676060 2009
12
From ectodermal dysplasia to selective tooth agenesis. 61 54
19504606 2009
13
XEDAR as a putative colorectal tumor suppressor that mediates p53-regulated anoikis pathway. 54 61
19543321 2009
14
[A case of disseminated BCG infection found during treatment of an infant with Crohn's disease]. 61 54
19764466 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. 61 54
19450441 2009
16
Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency. 61 54
18794870 2009
17
Consequences of X-linked hypohidrotic ectodermal dysplasia for the human jaw bone. 54 61
19828977 2009
18
IKKalpha is a p63 transcriptional target involved in the pathogenesis of ectodermal dysplasias. 54 61
18633439 2009
19
Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene. 61 54
18816645 2008
20
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. 54 61
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. 61 54
18350553 2008
24
X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis. 61 54
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. 54 61
17693991 2007
28
Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency. 54 61
17931563 2007
29
Constraints on utilization of the EDA-signaling pathway in threespine stickleback evolution. 54 61
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. 54 61
16794254 2006
32
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. 54 61
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. 54 61
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]. 54 61
16527194 2006
37
Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation. 61 54
16333836 2006
38
The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity. 61 54
16319531 2006
39
Ellis-van Creveld syndrome. 54 61
17392984 2006
40
NMR structure of the p63 SAM domain and dynamical properties of G534V and T537P pathological mutants, identified in the AEC syndrome. 61 54
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
Sources

Variations for Ectodermal Dysplasia

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ClinVar genetic disease variations for Ectodermal Dysplasia:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EDA NM_001399.5(EDA):c.826C>T (p.Arg276Cys) SNV Pathogenic 31908 rs387907197 X:69253280-69253280 X:70033430-70033430
2 EDAR NM_022336.4(EDAR):c.529+1G>A SNV Pathogenic 504887 rs1553445945 2:109529133-109529133 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 22)
# Super pathways Score Top Affiliating Genes
1
WNT Signaling 63
12.28 WNT10A KREMEN1 CHUK CDH3
2
TRAF Pathway 63
Show member pathways
 12.16 NFKBIA IKBKG EDAR EDA2R EDA CHUK
3
Osteoclast differentiation 36
11.89 NFKBIA IKBKG CHUK
4
MAPK Pathway 70
Show member pathways
 11.87 NFKBIA IKBKG CHUK
5
TNF signaling pathway 36
11.82 NFKBIA IKBKG CHUK
6
G12-G13 in Cellular Signaling 63
11.82 NFKBIA IKBKG CHUK CDH3
7
Cytokine production by Th17 cells in CF (Mouse model) 23
Show member pathways
 11.72 NFKBIA IKBKG CHUK
8
Small cell lung cancer 36
11.71 NFKBIA IKBKG CHUK
9
LT-BetaR Pathway 63
Show member pathways
 11.65 NFKBIA IKBKG CHUK
10
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway 23
Show member pathways
 11.59 NFKBIA IKBKG CHUK
11
Adipocytokine signaling pathway 36
11.53 NFKBIA IKBKG CHUK
12
TNF Superfamily Pathway: Human Ligand-Receptor Interactions and their Associated Functions 64
Show member pathways
 11.47 EDARADD EDAR EDA2R EDA
13
Transcription_NF-kB signaling pathway 23
11.4 NFKBIA IKBKG CHUK
14
Cellular Transformation by HTLV1 63
Show member pathways
 11.36 NFKBIA IKBKG CHUK
15
Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins 23
Show member pathways
 11.26 NFKBIA IKBKG CHUK
16
Nucleotide-binding Oligomerization Domain (NOD) pathway 1
11.25 NFKBIA IKBKG CHUK
17
NF-kappa B signaling pathway 36
11.18 NFKBIA IKBKG EDARADD EDAR EDA2R EDA
18
EBV LMP1 signaling 1
10.96 NFKBIA IKBKG CHUK
19
Canonical NF-kappaB pathway 1
10.91 NFKBIA IKBKG CHUK
20
NTHi-Induced Signaling 63
10.82 NFKBIA IKBKG CHUK
21
NLR Proteins 1
10.49 IKBKG CHUK
22
MAPK and NFkB Signalling Pathways Inhibited by Yersinia YopJ 1
10.21 NFKBIA IKBKG CHUK
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 9.63 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 23)
# 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 10.01 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 9.91 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 9.74 NFKBIA IKBKG CHUK
9 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.73 IKBKG EDA2R EDA CHUK
10 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.72 EDARADD EDAR EDA
11 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.72 IKBKG EDAR EDA2R EDA CHUK
12 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.71 NFKBIA IKBKG CHUK
13 odontogenesis of dentin-containing tooth GO:0042475 9.67 TP63 EDAR EDA
14 regulation of NIK/NF-kappaB signaling GO:1901222 9.61 NFKBIA EDA
15 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.6 IKBKG CHUK
16 positive regulation of keratinocyte proliferation GO:0010838 9.58 TP63 CDH3
17 adherens junction organization GO:0034332 9.58 NECTIN4 NECTIN1 CDH3
18 epidermis development GO:0008544 9.55 TP63 KRT85 GRHL2 EDAR EDA2R
19 negative regulation of keratinocyte differentiation GO:0045617 9.51 TP63 GRHL2
20 salivary gland cavitation GO:0060662 9.46 EDAR EDA
21 tumor necrosis factor-mediated signaling pathway GO:0033209 9.43 NFKBIA EDARADD EDAR EDA2R EDA CHUK
22 regulation of epidermal cell division GO:0010482 9.37 TP63 KDF1
23 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 transferrin receptor binding GO:1990459 8.62 IKBKG CHUK
Sources

Sources for Ectodermal Dysplasia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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