MCID: ECT062
MIFTS: 58

Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

Name: Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 49 11 67 65
Hypohidrotic Ectodermal Dysplasia 10 21 45 22 23 12 51
Christ-Siemens-Touraine Syndrome 10 21 45 22 23 51 65
Anhidrotic Ectodermal Dysplasia 21 45 22 23 51
Hed 45 23 51 67
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 36 24 65
Ectodermal Dysplasia, Hypohidrotic 45 47 24
Hypohidrotic Ectodermal Dysplasia, X-Linked 22 24
X-Linked Hypohidrotic Ectodermal Dysplasia 45 51
Ectodermal Dysplasia Anhidrotic 45 67
Cst Syndrome 45 23
Xhed 45 51
Eda 45 67
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 65
Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 65
 
Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 65
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive 67
Hypohidrotic X-Linked Ectodermal Dysplasia 10
Hypohidrotic Ectodermal Dysplasia X-Linked 45
Anhidrotic Ectodermal Dysplasia, X-Linked 22
Anhidrotic Ectodermal Dysplasia X-Linked 45
X-Linked Anhidrotic Ectodermal Dysplasia 51
Ectodermal Dysplasia 1, Anhidrotic 36
Ectodermal Dysplasia 3, Anhidrotic 65
Ectodermal Dysplasia 1, Anhydrotic 10
Anhidrotic Ectodermal Dysplasia 3 10
Ectodermal Dysplasia 1 45
Ectd10b 67
Xlhed 22
Xlaed 22

Characteristics:

Orphanet epidemiological data:

51
christ-siemens-touraine syndrome:
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy; Age of death: normal life expectancy
hypohidrotic ectodermal dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

61
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 224900
Disease Ontology10 DOID:14793
NCIt42 C84562
Orphanet51 181, 238468
ICD10 via Orphanet28 Q82.4
MESH via Orphanet37 D053358
UMLS via Orphanet66 C0162359
MedGen34 C0406702
UMLS65 C0162359, C3539920, C3887494 C1720965, C3541517, C3888065, C0406702, more

Summaries for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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OMIM:49 Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or... (224900) more...

MalaCards based summary: Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive, also known as hypohidrotic ectodermal dysplasia, is related to hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia and ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant, and has symptoms including thick lower lip vermilion, dry skin and thin skin. An important gene associated with Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive is EDAR (Ectodysplasin A Receptor), and among its related pathways are NTHi-Induced Signaling and NLR proteins. Affiliated tissues include skin, eye and bone, and related mouse phenotypes are pigmentation and craniofacial.

Disease Ontology:10 A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).

Genetics Home Reference:23 Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands.

NIH Rare Diseases:45 Hypohidrotic ectodermal dysplasia (hed) is a genetic skin disease. common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. hed is caused by mutations in the eda, edar, or edaradd genes. it may be inherited in an x-linked recessive, autosomal recessive, or autosomal dominant manner depending on the genetic cause of the condition. the x-linked form is the most common form. the forms have similar signs and symptoms, however the the autosomal dominant form tends to be the mildest. treatment of hypohidrotic ectodermal dysplasia may include special hair care formulas or wigs, measures to prevent overheating, removal of ear and nose concretions, and dental evaluations and treatment (e.g., restorations, dental implants, or dentures). last updated: 1/21/2014

UniProtKB/Swiss-Prot:67 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive: A disorder due to abnormal development of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands.

GeneReviews summary for NBK1112

Related Diseases for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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Diseases in the Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive family:

Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant

Diseases related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia34.4EDAR, EDARADD, WNT10A
2ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant33.4EDAR, EDARADD
3ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive33.4EDAR, EDARADD
4ectodermal dysplasia, hypohidrotic, with immune deficiency33.4EDA, IKBKG, TRAF6
5ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant33.2EDAR, EDARADD, TRAF6
6ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency12.8
7ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency12.8
8hypohidrotic ectodermal dysplasia autosomal recessive12.6
9hypohidrotic ectodermal dysplasia, autosomal12.6
10hypohidrotic ectodermal dysplasia with immunodeficiency12.5
11immunodeficiency, isolated12.2
12rapp-hodgkin syndrome12.0
13agammaglobulinemia, x-linked 112.0
14ectodermal dysplasia 1, hypohidrotic, x-linked12.0
15ectodermal dysplasia 2, clouston type12.0
16agammaglobulinemia and isolated hormone deficiency11.7
17hydrocephalus due to congenital stenosis of aqueduct of sylvius11.3
18endotheliitis10.6
19schizophrenia10.6
20gnas hyperfunction10.5
21esophageal cancer10.5
22atherosclerosis10.5
23renal tubular acidosis10.5
24myeloma10.5
25esophagitis10.5
26sjogren's syndrome10.5
27temporal arteritis10.5
28intestinal perforation10.5
29prion disease10.5
30periodontosis10.5
31paraquat poisoning10.5
32fumarase deficiency10.4
33breast cancer10.4
34leprosy10.4
35membranous nephropathy10.4
36weaver syndrome10.4
37otitis media10.4
38ataxia-telangiectasia10.4
39camurati-engelmann disease10.4
40hemophilia b10.4
41crohn's disease10.4
42gastric cancer10.4
43hepatitis10.4
44liver disease10.4
45thrombocytopenia10.4
46inflammatory myofibroblastic tumor10.4
47cd40 ligand deficiency10.4
48alexithymia10.4
49apraxia10.4
50cerebral artery occlusion10.4

Graphical network of the top 20 diseases related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:



Diseases related to ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive

Symptoms for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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Symptoms by clinical synopsis from OMIM:

224900

Clinical features from OMIM:

224900

Symptoms:

 51 (show all 44)
  • absent/decreased/thin eyebrows
  • flattened nose
  • protruding lips
  • complete/partial microdontia
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • decreased body hair/axillar/pubic hairlessness
  • frontal bossing/prominent forehead
  • x-linked recessive inheritance
  • terminal/third phalangeal bone of fingers hypoplasia
  • chronic arterial hypertension
  • hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  • insulin-dependent/type 1 diabetes
  • facial dysmorphism
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • xerophthalmia/dry eyes
  • thick lips
  • anomalies of teeth and dentition
  • tooth shape anomaly
  • anodontia/oligodontia/hypodontia
  • dry/squaly skin/exfoliation
  • thin skin
  • irregular/in bands/reticular skin hyperpigmentation
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • anomalies of eyelids, eyelashes and lacrimal system
  • depressed nasal bridge
  • anteverted nares/nostrils
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • mouth dryness/xerostomia
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • eczema
  • decreased hair pigmentation/hypopigmentation of hair
  • slow growth of the hair
  • brittle hair/distrix/trichorrhexis
  • cough
  • breast tissue/mammary gland absence/aplasia
  • nails anomalies
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • early death/lethality

HPO human phenotypes related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

(show all 41)
id Description Frequency HPO Source Accession
1 thick lower lip vermilion hallmark (90%) HP:0000179
2 dry skin hallmark (90%) HP:0000958
3 thin skin hallmark (90%) HP:0000963
4 keratoconjunctivitis sicca hallmark (90%) HP:0001097
5 abnormal facial shape hallmark (90%) HP:0001999
6 abnormality of dental morphology hallmark (90%) HP:0006482
7 irregular hyperpigmentation hallmark (90%) HP:0007400
8 reduced number of teeth hallmark (90%) HP:0009804
9 xerostomia typical (50%) HP:0000217
10 sinusitis typical (50%) HP:0000246
11 anteverted nares typical (50%) HP:0000463
12 hyperkeratosis typical (50%) HP:0000962
13 eczema typical (50%) HP:0000964
14 hypohidrosis typical (50%) HP:0000966
15 frontal bossing typical (50%) HP:0002007
16 slow-growing hair typical (50%) HP:0002217
17 depressed nasal bridge typical (50%) HP:0005280
18 hypopigmentation of hair typical (50%) HP:0005599
19 abnormality of hair texture typical (50%) HP:0010719
20 aplasia/hypoplasia of the eyebrow typical (50%) HP:0100840
21 abnormality of the nail occasional (7.5%) HP:0001597
22 abnormal hair quantity occasional (7.5%) HP:0011362
23 cognitive impairment occasional (7.5%) HP:0100543
24 breast aplasia occasional (7.5%) HP:0100783
25 thick vermilion border HP:0012471
26 everted upper lip vermilion HP:0010803
27 hypohidrotic ectodermal dysplasia HP:0007607
28 depressed nasal bridge HP:0005280
29 heat intolerance HP:0002046
30 frontal bossing HP:0002007
31 periorbital hyperpigmentation HP:0001106
32 hypotrichosis HP:0001006
33 anhidrosis HP:0000970
34 hypohidrosis HP:0000966
35 microdontia HP:0000691
36 anodontia HP:0000674
37 hypodontia HP:0000668
38 sparse eyelashes HP:0000653
39 periorbital wrinkles HP:0000607
40 sparse eyebrow HP:0000535
41 everted lower lip vermilion HP:0000232

Drugs & Therapeutics for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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Drugs for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Anesthetics, Local2347
2Anesthetics7385

Interventional clinical trials:

(show all 18)
idNameStatusNCT IDPhase
1Phase 2 Study to Evaluate Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200 in Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)CompletedNCT01775462Phase 2
2A Phase 1, Open-label, Multicenter, Safety and Pharmacokinetic Study of EDI200CompletedNCT01564225Phase 1
3Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012)CompletedNCT01629927
4Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia: Evaluation of an Early Diagnosis Technology and Tests to Assess Nutritional StatusCompletedNCT01629940
5Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical PhenotypeCompletedNCT01398397
6Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial VariationCompletedNCT01386775
7Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - ACompletedNCT01293565
8Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal DysplasiaCompletedNCT01135888
9X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction SurveyCompletedNCT01398813
10Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal DysplasiaCompletedNCT01109290
11Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal DysplasiaCompletedNCT01308333
12Phenotypic Properties in Individuals Affected With XLHEDCompletedNCT01871714
13Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal DysplasiaCompletedNCT01108770
14Sweat Duct Imaging in Mother/Newborn DyadsCompletedNCT01342133
15Sonography in Hypotension and Cardiac Arrest in the Emergency Department.RecruitingNCT01419106
16EDICT - Exercise inDuced Changes In Colorectal Cancer TissuesRecruitingNCT02056691
17Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal DysplasiaActive, not recruitingNCT02099552
18Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002Active, not recruitingNCT01992289

Search NIH Clinical Center for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive


Cochrane evidence based reviews: ectodermal dysplasia 1, anhidrotic

Genetic Tests for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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Genetic tests related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Hypohidrotic Ectodermal Dysplasia22 EDARADD, EDAR
2 Hypohidrotic Ectodermal Dysplasia, X-Linked22 EDA

Anatomical Context for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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MalaCards organs/tissues related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

33
Skin, Eye, Bone, Breast, Testes

Animal Models for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,... or affiliated genes

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MGI Mouse Phenotypes related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.2EDAR, EDARADD, IKBKG, TRAF6, WNT10A
2MP:00053828.4CHUK, EDAR, EDARADD, MSX1, PAX9, TRAF6
3MP:00053718.2CHUK, EDAR, EDARADD, FURIN, MSX1, PAX9
4MP:00053778.1CHUK, EDARADD, HR, MSX1, PAX9
5MP:00053818.0CHUK, EDAR, FURIN, HR, IKBKG, MSX1
6MP:00053707.8CHUK, FURIN, HR, IKBKG, MSX1, TAB2
7MP:00053797.8CHUK, EDAR, EDARADD, HR, IKBKG, MSX1
8MP:00053977.1CHUK, EDARADD, FURIN, HR, IKBKG, IRAK4
9MP:00107716.9CHUK, EDAR, EDARADD, FURIN, HR, IKBKG
10MP:00053786.7CHUK, EDAR, EDARADD, FURIN, HR, IKBKG
11MP:00107686.6CHUK, EDAR, EDARADD, FURIN, HR, IKBKG

Publications for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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Variations for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

67 (show all 17)
id Symbol AA change Variation ID SNP ID
1EDARp.Cys87ArgVAR_013448
2EDARp.Arg89HisVAR_013449
3EDARp.Arg420GlnVAR_013450
4EDARp.Cys47TyrVAR_054444
5EDARp.Asp110AlaVAR_054445
6EDARp.Cys148ArgVAR_054446
7EDARp.Arg375HisVAR_054447
8EDARp.Leu377PheVAR_054448
9EDARp.Gly382SerVAR_054449
10EDARp.Thr403MetVAR_054450
11EDARp.Thr413ProVAR_054451
12EDARp.Ile418ThrVAR_054452
13EDARp.Trp434CysVAR_054453
14EDARp.Arg98GlnVAR_064830
15EDARp.Arg358GlnVAR_064831
16EDARp.Ile408PheVAR_064833
17EDARp.Trp434ArgVAR_064834

Clinvar genetic disease variations for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1EDARNM_022336.3(EDAR): c.1144G> A (p.Gly382Ser)single nucleotide variantPathogenicrs747806672GRCh37Chr 2, 109513566: 109513566
2EDARADDNM_080738.3(EDARADD): c.424G> A (p.Glu142Lys)single nucleotide variantPathogenicrs74315309GRCh37Chr 1, 236645755: 236645755
3EDARADDNM_080738.3(EDARADD): c.335T> G (p.Leu112Arg)single nucleotide variantPathogenicrs121908116GRCh37Chr 1, 236645666: 236645666
4EDAREDAR, 18-BP DEL, IVS2deletionPathogenic
5EDARNM_022336.3(EDAR): c.266G> A (p.Arg89His)single nucleotide variantPathogenicrs121908450GRCh37Chr 2, 109545744: 109545744
6EDAREDAR, DELdeletionPathogenic
7EDARNM_022336.3(EDAR): c.259T> C (p.Cys87Arg)single nucleotide variantPathogenicrs121908451GRCh37Chr 2, 109545751: 109545751
8EDARNM_022336.3(EDAR): c.51+1G> Asingle nucleotide variantPathogenicrs797044435GRCh38Chr 2, 108930963: 108930963
9EDARNM_022336.3(EDAR): c.1124G> A (p.Arg375His)single nucleotide variantPathogenicrs121908454GRCh37Chr 2, 109513586: 109513586
10EDARNM_022336.3(EDAR): c.329A> C (p.Asp110Ala)single nucleotide variantPathogenicrs121908455GRCh37Chr 2, 109545681: 109545681
11EDARNM_022336.3(EDAR): c.719_722delAAGA (p.Lys240Argfs)deletionPathogenicrs797044436GRCh38Chr 2, 108910784: 108910787
12EDARNM_022336.3(EDAR): c.803+1G> Asingle nucleotide variantPathogenicrs797044437GRCh38Chr 2, 108910459: 108910459
13EDARADDNM_145861.2(EDARADD): c.402_407delAACGGT (p.Thr135_Val136del)deletionPathogenicrs397515575GRCh37Chr 1, 236645703: 236645708

Expression for genes affiliated with Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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Search GEO for disease gene expression data for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive.

Pathways for genes affiliated with Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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Pathways related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 45)
idSuper pathwaysScoreTop Affiliating Genes
19.9CHUK, IKBKG
29.9CHUK, IKBKG
39.6CHUK, FURIN, IKBKG
4
Show member pathways
9.5CHUK, IKBKG, IRAK4
5
Show member pathways
9.5TAB2, TRAF6
6
Show member pathways
9.5TAB2, TRAF6
79.4CHUK, IKBKG, TRAF6
89.4CHUK, IKBKG, TRAF6
9
Show member pathways
9.4CHUK, IKBKG, TRAF6
109.4CHUK, IKBKG, TRAF6
11
Show member pathways
9.4CHUK, IKBKG, TRAF6
12
Show member pathways
9.4CHUK, IKBKG, TRAF6
13
Show member pathways
9.4CHUK, IKBKG, TRAF6
149.4CHUK, IKBKG, TRAF6
15
Show member pathways
9.4CHUK, IKBKG, TRAF6
169.4CHUK, IKBKG, TRAF6
179.4CHUK, IKBKG, TRAF6
18
Show member pathways
9.4CHUK, IKBKG, TRAF6
19
Show member pathways
9.4CHUK, FURIN, TRAF6
209.4CHUK, IKBKG, TAB2
21
Show member pathways
9.1CHUK, IKBKG, TAB2
22
Show member pathways
9.1CHUK, FURIN, IKBKG, TRAF6
23
Show member pathways
9.1CHUK, IKBKG, IRAK4, TRAF6
249.1CHUK, IKBKG, TRAF6, WNT10A
25
Show member pathways
8.9CHUK, IKBKG, TAB2, TRAF6
268.9CHUK, IKBKG, TAB2, TRAF6
27
Show member pathways
8.9CHUK, IKBKG, TAB2, TRAF6
288.9CHUK, IKBKG, TAB2, TRAF6
298.9CHUK, IKBKG, TAB2, TRAF6
308.9CHUK, IKBKG, TAB2, TRAF6
31
Show member pathways
8.9CHUK, IKBKG, TAB2, TRAF6
32
Show member pathways
8.9CHUK, IKBKG, TAB2, TRAF6
33
Show member pathways
8.9CHUK, IKBKG, TAB2, TRAF6
348.9CHUK, IKBKG, MSX1, WNT10A
35
Show member pathways
8.6CHUK, IKBKG, IRAK4, TAB2, TRAF6
36
Show member pathways
8.6CHUK, IKBKG, IRAK4, TAB2, TRAF6
37
Show member pathways
8.6CHUK, IKBKG, IRAK4, TAB2, TRAF6
38
Show member pathways
8.6CHUK, IKBKG, IRAK4, TAB2, TRAF6
39
Show member pathways
8.6CHUK, IKBKG, IRAK4, TAB2, TRAF6
40
Show member pathways
8.6CHUK, IKBKG, IRAK4, TAB2, TRAF6
418.6CHUK, IKBKG, IRAK4, TAB2, TRAF6
42
Show member pathways
8.2CHUK, FURIN, IKBKG, IRAK4, TAB2, TRAF6
43
Show member pathways
7.9CHUK, FURIN, IKBKG, IRAK4, TAB2, TRAF6
44
Show member pathways
7.8CHUK, EDA, EDA2R, EDAR, IKBKG, IRAK4
45
Show member pathways
7.6CHUK, EDA, EDA2R, EDAR, EDARADD, IKBKG

GO Terms for genes affiliated with Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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Biological processes related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of NF-kappaB import into nucleusGO:004234610.6EDA, EDAR
2pigmentationGO:004347310.4EDA, EDAR
3toll-like receptor TLR6:TLR2 signaling pathwayGO:003812410.2CHUK, IKBKG
4regulation of odontogenesisGO:004248110.1MSX1, PAX9
5face morphogenesisGO:00603259.9MSX1, PAX9
6odontogenesisGO:00424769.8MSX1, WNT10A
7odontogenesis of dentin-containing toothGO:00424759.8EDA, EDAR, TRAF6
8toll-like receptor TLR1:TLR2 signaling pathwayGO:00381239.8CHUK, IKBKG, TRAF6
9JNK cascadeGO:00072549.7IKBKG, IRAK4, TAB2
10toll-like receptor 4 signaling pathwayGO:00341429.7CHUK, TAB2, TRAF6
11nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:00358729.6IKBKG, TAB2, TRAF6
12activation of MAPK activityGO:00001879.6IKBKG, TAB2, TRAF6
13toll-like receptor 3 signaling pathwayGO:00341389.3CHUK, TAB2, TRAF6
14stimulatory C-type lectin receptor signaling pathwayGO:00022239.3CHUK, IKBKG, TAB2, TRAF6
15Fc-epsilon receptor signaling pathwayGO:00380959.3CHUK, TAB2, TRAF6
16toll-like receptor 9 signaling pathwayGO:00341629.2IKBKG, IRAK4, TAB2
17toll-like receptor signaling pathwayGO:00022249.2CHUK, IRAK4, TAB2, TRAF6
18MyD88-dependent toll-like receptor signaling pathwayGO:00027559.2IKBKG, IRAK4, TAB2, TRAF6
19I-kappaB kinase/NF-kappaB signalingGO:00072499.2CHUK, IKBKG, TAB2, TRAF6
20stress-activated MAPK cascadeGO:00514039.0CHUK, IKBKG, TAB2, TRAF6
21MyD88-independent toll-like receptor signaling pathwayGO:00027568.9CHUK, IKBKG, TAB2, TRAF6
22TRIF-dependent toll-like receptor signaling pathwayGO:00356668.9CHUK, IKBKG, TAB2, TRAF6
23toll-like receptor 5 signaling pathwayGO:00341468.6CHUK, IKBKG, TAB2, TRAF6
24positive regulation of NF-kappaB transcription factor activityGO:00510928.6CHUK, EDA, EDA2R, IKBKG, TAB2, TRAF6
25positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431238.4CHUK, EDA, EDAR, IKBKG, IRAK4, TAB2

Molecular functions related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1histone deacetylase bindingGO:00428269.5HR, TRAF6

Sources for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet