Aliases & Classifications for Ectodermal Dysplasia

Aliases & Descriptions for Ectodermal Dysplasia:

Name: Ectodermal Dysplasia 38 50 52 69

Classifications:



External Ids:

ICD10 33 Q82.4

Summaries for Ectodermal Dysplasia

NIH Rare Diseases : 50 ectodermal dysplasias (ed) are a group of about 150 heritable disorders that affect the ectoderm, a layer of tissue that contributes to the formation of many parts of the body, including the skin, sweat glands, hair, teeth, and nails. symptoms can range from mild to severe and may include dental abnormalities; brittle, sparse or absent hair; abnormal fingernails; inability to perspire (hypohidrosis); various skin problems; and other symptoms. different types of ectodermal dysplasias are caused by mutations in different genes, and can be inherited in a variety of ways. there are no cures for ed, but many treatments are available to address the individual symptoms. last updated: 5/23/2016

MalaCards based summary : Ectodermal Dysplasia is related to ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive and ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant, and has symptoms including seizures, photophobia and recurrent pharyngitis. An important gene associated with Ectodermal Dysplasia is EDA (Ectodysplasin A), and among its related pathways/superpathways are Apoptosis Modulation and Signaling and Influenza A. The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include Epidermis and Epidermis, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and endocrine/exocrine gland

Wikipedia : 71 Ectodermal dysplasia is not a single disorder, but a group of syndromes all deriving from abnormalities... more...

Related Diseases for Ectodermal Dysplasia

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

(show top 50) (show all 234)
id Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 34.0 EDAR EDARADD
2 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 33.6 EDAR EDARADD
3 ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 33.3 CHUK IKBKG
4 cleft lip/palate-ectodermal dysplasia syndrome 12.4
5 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 12.4
6 ectodermal dysplasia 1, hypohidrotic, x-linked 12.4
7 ectodermal dysplasia/skin fragility syndrome 12.3
8 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 12.3
9 ectodermal dysplasia 2, clouston type 12.3
10 ectodermal dysplasia, ectrodactyly, and macular dystrophy 12.3
11 ectodermal dysplasia 3, witkop type 12.3
12 ectodermal dysplasia, hypohidrotic, with immune deficiency 12.3
13 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 12.2
14 ectodermal dysplasia 4, hair/nail type 12.2
15 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 12.2
16 ectodermal dysplasia 7, hair/nail type 12.2
17 ectodermal dysplasia 9, hair/nail type 12.2
18 ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency 12.2
19 ectodermal dysplasia/short stature syndrome 12.1
20 ectodermal dysplasia-syndactyly syndrome 1 12.1
21 eec syndrome 12.1
22 ectodermal dysplasia 6, hair/nail type 12.1
23 ectodermal dysplasia 5, hair/nail type 12.1
24 ectodermal dysplasia 8, hair/tooth/nail type 12.1
25 hypohidrotic ectodermal dysplasia autosomal recessive 12.0
26 hidrotic ectodermal dysplasia 2 12.0
27 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 12.0
28 ectodermal dysplasia, trichoodontoonychial type 12.0
29 hypohidrotic ectodermal dysplasia with immunodeficiency 12.0
30 rapp-hodgkin syndrome 12.0
31 arthrogryposis and ectodermal dysplasia 11.9
32 cerebellar ataxia and ectodermal dysplasia 11.9
33 corneal intraepithelial dyskeratosis and ectodermal dysplasia 11.9
34 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 11.9
35 ectodermal dysplasia-syndactyly syndrome 2 11.9
36 congenital ectodermal dysplasia with hearing loss 11.8
37 hypohidrotic ectodermal dysplasia, autosomal 11.8
38 ectodermal dysplasia and neurosensory deafness 11.8
39 ectodermal dysplasia, hidrotic, christianson-fourie type 11.8
40 ectodermal dysplasia mental retardation syndactyly 11.8
41 ectodermal dysplasia with natal teeth, turnpenny type 11.8
42 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum 11.8
43 ectodermal dysplasia alopecia preaxial polydactyly 11.8
44 pkp1-related ectodermal dysplasia/skin fragility syndrome 11.7
45 ectodermal dysplasia arthrogryposis diabetes mellitus 11.7
46 syndactyly ectodermal dysplasia cleft lip palate hand foot 11.7
47 ectodermal dysplasia bartalos type 11.7
48 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities 11.7
49 tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities 11.7
50 ectodermal dysplasia berlin type 11.7

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



Diseases related to Ectodermal Dysplasia

Symptoms & Phenotypes for Ectodermal Dysplasia

Human phenotypes related to Ectodermal Dysplasia:

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

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.28 CHUK EDAR IKBKG NFKBIA
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.28 CHUK EDAR IKBKG NFKBIA TP63

MGI Mouse Phenotypes related to Ectodermal Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.56 CDH3 CHUK EDAR EDARADD GJB6 IKBKG
2 craniofacial MP:0005382 9.55 CHUK EDAR EDARADD NECTIN1 TP63
3 integument MP:0010771 9.28 CDH3 CHUK EDAR EDARADD GJB6 IKBKG

Drugs & Therapeutics for Ectodermal Dysplasia

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

(show all 28)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 2 51-84-3 187
2 Cholinergic Agents Phase 2
3 Neuromuscular Agents Phase 2
4 Neurotransmitter Agents Phase 2
5 Anesthetics Phase 2
6 Peripheral Nervous System Agents Phase 2
7 Pharmaceutical Solutions Phase 2,Phase 1
8 abobotulinumtoxinA Phase 2
9 incobotulinumtoxinA Phase 2
10 onabotulinumtoxinA Phase 2
11 Botulinum Toxins Phase 2
12 Botulinum Toxins, Type A Phase 2
13
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
14
Everolimus Approved Phase 1 159351-69-6 6442177
15
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
16 Anti-Bacterial Agents Phase 1
17 Anti-Infective Agents Phase 1
18 Immunosuppressive Agents Phase 1
19 Antifungal Agents Phase 1
20 Antibiotics, Antitubercular Phase 1
21
Simvastatin Approved 79902-63-9 54454
22 Hydroxymethylglutaryl-CoA Reductase Inhibitors
23 Hypolipidemic Agents
24 Anticholesteremic Agents
25 Lipid Regulating Agents
26 Antimetabolites
27 Immunoglobulins
28 Antibodies

Interventional clinical trials:

(show all 32)
id Name Status NCT ID Phase
1 Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita Unknown status NCT00936533 Phase 2
2 Phase 2 Study to Evaluate Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200 in Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Completed NCT01775462 Phase 2
3 A Phase 1, Open-label, Multicenter, Safety and Pharmacokinetic Study of EDI200 Completed NCT01564225 Phase 1
4 Topical Sirolimus for the Treatment of Pachyonychia Congenita (PC) Completed NCT02152007 Phase 1
5 Study of TD101, a Small Interfering RNA (siRNA) Designed for Treatment of Pachyonychia Congenita Completed NCT00716014 Phase 1
6 Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin Recruiting NCT02592954 Phase 1
7 Simvastatin Treatment of Pachyonychia Congenita Unknown status NCT01382511
8 Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype Completed NCT01398397
9 Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation Completed NCT01386775
10 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - A Completed NCT01293565
11 Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia Completed NCT01308333
12 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012) Completed NCT01629927
13 Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia: Evaluation of an Early Diagnosis Technology and Tests to Assess Nutritional Status Completed NCT01629940
14 Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia Completed NCT01109290
15 Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia Completed NCT01135888
16 X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction Survey Completed NCT01398813
17 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia Completed NCT01108770
18 Phenotypic Properties in Individuals Affected With XLHED Completed NCT01871714
19 Clinical Study of Oral Endosseous Titanium Implants in Edentulous Subjects Completed NCT00001211
20 Sweat Duct Imaging in Mother/Newborn Dyads Completed NCT01342133
21 Natural History of Asphyxiating Thoracic Dystrophy (DTJ) Completed NCT00948376
22 Role of Pseudogene in Incontinentia Pigmenti, and Its Potential Treatment Completed NCT00976586
23 Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63 Recruiting NCT02896387
24 Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC) Recruiting NCT01630421
25 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
26 International Pachyonychia Congenita Research Registry Recruiting NCT02321423
27 Study of Selected X-linked Disorders: Goltz Syndrome Recruiting NCT00691223
28 Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia Active, not recruiting NCT02099552
29 Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 Active, not recruiting NCT01992289
30 Growth Arrest in Focal Dermal Hypoplasia Active, not recruiting NCT02463656
31 Comparison Between Acrylic and Soft Liner Telescopic Overdentures Regarding Patient Satisfaction Not yet recruiting NCT03127033
32 Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States Terminated NCT00266513

Search NIH Clinical Center for Ectodermal Dysplasia

Genetic Tests for Ectodermal Dysplasia

Anatomical Context for Ectodermal Dysplasia

MalaCards organs/tissues related to Ectodermal Dysplasia:

39
Skin, Bone, T Cells, Testes, Eye, Brain, Salivary Gland
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Ectodermal Dysplasia:
id 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 890)
id Title Authors Year
1
Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia. ( 28045201 )
2017
2
A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family. ( 28403827 )
2017
3
Tissue expansion for correction of alopecia in a child with hypohidrotic ectodermal dysplasia. ( 27177435 )
2016
4
Anticipated stigma and blameless guilt: Mothers' evaluation of life with the sex-linked disorder, hypohidrotic ectodermal dysplasia (XHED). ( 27140840 )
2016
5
Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation. ( 26964878 )
2016
6
Ectodermal dysplasia with immunodeficiency caused by a branch-point mutation in IKBKG/NEMO. ( 27477329 )
2016
7
Acquired Dermal Melanocytosis Occurring in a Patient with Hypohidrotic Ectodermal Dysplasia. ( 27904288 )
2016
8
Keratoprosthesis in Ectodermal Dysplasia. ( 27149534 )
2016
9
Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families. ( 27049303 )
2016
10
OCULAR FINDINGS IN A PATIENT WITH ECTODERMAL DYSPLASIA. ( 27930433 )
2016
11
Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients. ( 27657131 )
2016
12
Erratum: Dental management of hypohidrotic ectodermal dysplasia: A report of two cases. ( 27041918 )
2016
13
A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype. ( 27449516 )
2016
14
The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia. ( 27168349 )
2016
15
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias. ( 27469932 )
2016
16
A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID). ( 27368913 )
2016
17
Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1. ( 27554337 )
2016
18
Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome. ( 27485918 )
2016
19
High-Potency Topical Steroids: An Effective Therapy for Chronic Scalp Inflammation in Rapp-Hodgkin Ectodermal Dysplasia. ( 26861896 )
2016
20
Clinical outcomes of implant therapy in ectodermal dysplasia patients: a systematic review. ( 27052318 )
2016
21
Image Gallery: Periorbital and temporal dermal melanocytosis of hypohidrotic ectodermal dysplasia. ( 27996143 )
2016
22
Ectodermal Dysplasia: Management of Knife-Edged Irregular Ridge and Its Rehabilitation with Hybrid Implant Prosthesis. ( 27437373 )
2016
23
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements. ( 27305980 )
2016
24
A novel large deletion that encompasses EDA and the downstream gene AWAT2 causes X-linked hypohidrotic/anhidrotic ectodermal dysplasia. ( 27443954 )
2016
25
KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia. ( 27838789 )
2016
26
A novel EDARADD 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia. ( 26991760 )
2016
27
Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome. ( 27151912 )
2016
28
BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency. ( 27411570 )
2016
29
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. ( 27137747 )
2016
30
Hypohidrotic ectodermal dysplasia: A report of two cases. ( 27264909 )
2016
31
Prosthetic Management of a Child with Hypohidrotic Ectodermal Dysplasia: 6-Year Follow-Up. ( 27822392 )
2016
32
Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathology. ( 27378689 )
2016
33
Topical cetirizine and oral vitamin D: a valid treatment for hypotrichosis caused by ectodermal dysplasia. ( 27504742 )
2016
34
Genetic Disorders with Dyshidrosis: Ectodermal Dysplasia, Incontinentia Pigmenti, Fabry Disease, and Congenital Insensitivity to Pain with Anhidrosis. ( 27584961 )
2016
35
Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia. ( 24724966 )
2015
36
Six-Year Survival of a Mini Dental Implant-Retained Overdenture in a Child with Ectodermal Dysplasia. ( 26418841 )
2015
37
Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly. ( 26655010 )
2015
38
Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene. ( 26470833 )
2015
39
Dental management of hypohidrotic ectodermal dysplasia: A report of two cases. ( 26321846 )
2015
40
Ankyloblepharon-ectodermal dysplasia-clefting syndrome. ( 26515851 )
2015
41
Mini-implants: alternative for oral rehabilitation of a child with ectodermal dysplasia. ( 25672389 )
2015
42
Unusual manifestations of ectodermal dysplasia-syndactyly syndrome type I in two Yemeni siblings. ( 25612123 )
2015
43
Hypohidrotic Ectodermal Dysplasia. ( 26843773 )
2015
44
An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases. ( 25662550 )
2015
45
Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation. ( 25684924 )
2015
46
Ectodermal Dysplasia-Skin Fragility Syndrome: A Rare Case Report. ( 26288439 )
2015
47
Conventional Complete Denture in Patients with Ectodermal Dysplasia. ( 26425372 )
2015
48
Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination. ( 26137453 )
2015
49
Amino-terminal residues of I9Np63, mutated in ectodermal dysplasia, are required for its transcriptional activity. ( 26408908 )
2015
50
Perinatal Autopsy Findings in a Case of De Novo Hypohidrotic Ectodermal Dysplasia. ( 26417167 )
2015

Variations for Ectodermal Dysplasia

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 46)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.67 CHUK IKBKG NFKBIA TP63
2
Show member pathways
12.64 CHUK IKBKG NECTIN1 NFKBIA
3
Show member pathways
12.33 CHUK EDA EDAR IKBKG NFKBIA
4
Show member pathways
12.25 CHUK IKBKG NFKBIA
5
Show member pathways
12.25 CHUK IKBKG NFKBIA
6
Show member pathways
12.24 CHUK IKBKG NFKBIA
7
Show member pathways
12.21 CHUK IKBKG NFKBIA
8
Show member pathways
12.2 CHUK IKBKG NFKBIA
9
Show member pathways
12.19 CHUK IKBKG NFKBIA
10
Show member pathways
12.17 CHUK IKBKG NFKBIA
11 12.16 CHUK IKBKG NFKBIA
12
Show member pathways
12.12 CHUK IKBKG NFKBIA
13
Show member pathways
12.12 CHUK IKBKG NFKBIA
14
Show member pathways
12.12 CHUK IKBKG NFKBIA
15
Show member pathways
12.11 CHUK IKBKG NFKBIA
16
Show member pathways
12.06 CHUK NFKBIA TP63
17
Show member pathways
12.03 CHUK IKBKG NFKBIA
18
Show member pathways
11.99 CHUK IKBKG NFKBIA
19 11.96 CHUK IKBKG NFKBIA
20
Show member pathways
11.94 CHUK IKBKG NFKBIA
21 11.91 CHUK IKBKG NFKBIA
22 11.89 CHUK IKBKG NFKBIA
23
Show member pathways
11.87 CHUK IKBKG NFKBIA
24 11.8 CHUK IKBKG NFKBIA
25 11.74 CHUK IKBKG NFKBIA
26
Show member pathways
11.72 CHUK IKBKG NFKBIA
27 11.71 CDH3 CHUK IKBKG NFKBIA
28
Show member pathways
11.66 EDA EDAR EDARADD
29 11.65 CHUK IKBKG NFKBIA
30
Show member pathways
11.63 CHUK IKBKG NFKBIA
31
Show member pathways
11.56 CHUK IKBKG NFKBIA
32 11.51 CHUK IKBKG NFKBIA
33 11.47 CHUK IKBKG NFKBIA
34 11.41 CHUK IKBKG NFKBIA
35 11.37 CHUK IKBKG NFKBIA
36
Show member pathways
11.31 CHUK IKBKG NFKBIA
37
Show member pathways
11.24 CHUK IKBKG NFKBIA
38 11.17 CHUK IKBKG
39 11.16 CHUK IKBKG NFKBIA
40 11.02 CHUK IKBKG
41 10.99 CHUK IKBKG
42 10.81 CHUK IKBKG NFKBIA
43 10.69 CHUK IKBKG NFKBIA
44 10.52 CHUK IKBKG
45 10.45 CHUK IKBKG NFKBIA
46 9.88 CHUK IKBKG NFKBIA

GO Terms for Ectodermal Dysplasia

Cellular components related to Ectodermal Dysplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 IkappaB kinase complex GO:0008385 8.62 CHUK IKBKG

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

(show all 24)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.99 EDA EDAR EDARADD PKP1 TP63
2 immune response GO:0006955 9.85 CHUK EDA IKBKG NECTIN1
3 apoptotic process GO:0006915 9.83 EDAR GJB6 IKBKG NFKBIA TP63
4 response to lipopolysaccharide GO:0032496 9.76 CHUK GJB6 NFKBIA
5 positive regulation of gene expression GO:0010628 9.76 CDH3 EDA EDAR PKP1
6 Fc-epsilon receptor signaling pathway GO:0038095 9.75 CHUK IKBKG NFKBIA
7 T cell receptor signaling pathway GO:0050852 9.69 CHUK IKBKG NFKBIA
8 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.67 CHUK IKBKG NFKBIA
9 single organismal cell-cell adhesion GO:0016337 9.65 CDH3 NECTIN1 PKP1
10 hair follicle development GO:0001942 9.62 EDAR TP63
11 pigmentation GO:0043473 9.61 EDA EDAR
12 adherens junction organization GO:0034332 9.61 CDH3 NECTIN1
13 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.6 CHUK IKBKG
14 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.57 CHUK IKBKG
15 stress-activated MAPK cascade GO:0051403 9.56 CHUK IKBKG
16 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.54 CHUK IKBKG
17 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.54 CHUK IKBKG NFKBIA
18 positive regulation of NF-kappaB import into nucleus GO:0042346 9.52 EDA EDAR
19 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.46 CHUK EDA EDAR IKBKG
20 odontogenesis of dentin-containing tooth GO:0042475 9.43 EDA EDAR TP63
21 positive regulation of keratinocyte proliferation GO:0010838 9.4 CDH3 TP63
22 salivary gland cavitation GO:0060662 9.32 EDA EDAR
23 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.26 CHUK EDA IKBKG NFKBIA
24 tumor necrosis factor-mediated signaling pathway GO:0033209 9.02 CHUK EDA EDAR EDARADD NFKBIA

Sources for Ectodermal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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