MCID: ECT062
MIFTS: 55

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,...

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

Name: Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 50 68 12 66
Hypohidrotic Ectodermal Dysplasia 11 22 46 23 24 13 52
Christ-Siemens-Touraine Syndrome 11 22 46 23 24 66
Anhidrotic Ectodermal Dysplasia 22 46 23 24 52
Hed 46 24 52 68
Ectodermal Dysplasia, Hypohidrotic 46 25 48
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive 68 25
Hypohidrotic Ectodermal Dysplasia, X-Linked 23 25
Ectodermal Dysplasia Anhidrotic 46 68
Cst Syndrome 46 24
Eda 46 68
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 66
Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 66
Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 66
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 37
 
X-Linked Hypohidrotic Ectodermal Dysplasia 46
Hypohidrotic Ectodermal Dysplasia X-Linked 46
Hypohidrotic X-Linked Ectodermal Dysplasia 11
Anhidrotic Ectodermal Dysplasia, X-Linked 23
Anhidrotic Ectodermal Dysplasia X-Linked 46
Ectodermal Dysplasia 1, Anhidrotic 37
Ectodermal Dysplasia 3, Anhidrotic 66
Ectodermal Dysplasia 1, Anhydrotic 11
Anhidrotic Ectodermal Dysplasia 3 11
Ectodermal Dysplasia 1 46
Ectd10b 68
Xlaed 23
Xlhed 23
Xhed 46

Characteristics:

Orphanet epidemiological data:

52
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:

62
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 224900
Disease Ontology11 DOID:14793
NCIt43 C84562
Orphanet52 ORPHA238468
ICD10 via Orphanet29 Q82.4
MedGen35 C0406702

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

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OMIM:50 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 ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency and ectodermal dysplasia 10a, hypohidrotic/hair/nail 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 NLR proteins and NTHi-Induced Signaling. Affiliated tissues include skin, eye and testes, and related mouse phenotypes are pigmentation and craniofacial.

Disease Ontology:11 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).

NIH Rare Diseases:46 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:68 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.

Genetics Home Reference:24 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.

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 65)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency33.4CHUK, IKBKG, TRAF6
2ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant32.5EDAR, EDARADD, TRAF6
3ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant31.0EDAR, EDARADD
4ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive30.8EDAR, EDARADD
5ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency12.4
6hypohidrotic ectodermal dysplasia with immunodeficiency12.3
7hypohidrotic ectodermal dysplasia autosomal recessive12.2
8hypohidrotic ectodermal dysplasia, autosomal12.2
9immunodeficiency, isolated11.8
10ectodermal dysplasia, hypohidrotic, with immune deficiency11.8
11ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia11.8
12rapp-hodgkin syndrome11.6
13ectodermal dysplasia 2, clouston type11.6
14agammaglobulinemia, x-linked 111.6
15ectodermal dysplasia 1, hypohidrotic, x-linked11.5
16ectodermal dysplasia11.3
17agammaglobulinemia and isolated hormone deficiency11.3
18viljoen winship syndrome11.1
19hydrocephalus due to congenital stenosis of aqueduct of sylvius10.9
20anodontia10.6
21agammaglobulinemia10.5
22idh3b-related retinitis pigmentosa10.4EDAR, EDARADD
23immunodeficiency 3310.3
24hypothyroidism10.3
25pertussis10.3EDA, EDAR, EDARADD
26popliteal pterygium syndrome 110.2CHUK, IKBKG
27scleroperikeratitis10.2EDA, EDAR, EDARADD
28incontinentia pigmenti10.2
29alopecia10.2
30osteopetrosis10.2
31cleft palate with ankyloglossia10.2EDA, EDA2R
32walker dyson syndrome10.1EDAR, EDARADD, WNT10A
33gnas hyperfunction10.1
34neuroblastoma10.1
35sudden infant death syndrome10.1
36cystic fibrosis10.1
37lelis syndrome10.1
38taurodontism10.1
39cataract10.1
40keratoconus10.1
41lymphedema10.1
42nasopharyngitis10.1
43myiasis10.1
44anhidrosis10.1
45panuveitis10.1
46ectropion10.1
47melanoma10.1
48ankylosis10.1
49rhabdomyosarcoma10.1
50rhinitis10.1

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:

 52 (show all 31)
  • nephrotic syndrome
  • abnormality of the teeth
  • xerostomia
  • sinusitis
  • hypoplasia of the maxilla
  • anteverted nares
  • dry skin
  • hyperkeratosis
  • thin skin
  • eczema
  • hypohidrosis
  • keratoconjunctivitis sicca
  • failure to thrive
  • abnormality of the nail
  • abnormal facial shape
  • frontal bossing
  • slow-growing hair
  • abnormality of the abdominal wall
  • abnormality of dental morphology
  • irregular hyperpigmentation
  • reduced number of teeth
  • trichorrhexis nodosa
  • abnormality of immune system physiology
  • generalized hypopigmentation of hair
  • abnormal hair quantity
  • thick vermilion border
  • cough
  • inflammatory abnormality of the eye
  • cognitive impairment
  • breast aplasia
  • aplasia/hypoplasia of the eyebrow

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 everted lower lip vermilion HP:0000232
26 sparse and thin eyebrow HP:0000535
27 periorbital wrinkles HP:0000607
28 sparse eyelashes HP:0000653
29 hypodontia HP:0000668
30 anodontia HP:0000674
31 microdontia HP:0000691
32 hypohidrosis HP:0000966
33 anhidrosis HP:0000970
34 hypotrichosis HP:0001006
35 periorbital hyperpigmentation HP:0001106
36 frontal bossing HP:0002007
37 heat intolerance HP:0002046
38 depressed nasal bridge HP:0005280
39 hypohidrotic ectodermal dysplasia HP:0007607
40 everted upper lip vermilion HP:0010803
41 thick vermilion border HP:0012471

UMLS symptoms related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:


dyspnea, dry skin, koilonychia

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

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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, hypohidrotic, autosomal recessive

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 X-Linked Ectodermal Dysplasia25
2 Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome25
3 Hypohidrotic Ectodermal Dysplasia25 23 EDAR, EDARADD
4 Hypohidrotic Ectodermal Dysplasia, X-Linked23 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:

34
Skin, Eye, Testes, Breast

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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9EDAR, EDARADD, IKBKG, TRAF6, WNT10A
2MP:00053828.4CHUK, EDAR, EDARADD, MSX1, PAX9, TRAF6
3MP:00053818.3CHUK, EDAR, FURIN, IKBKG, MSX1, PAX9
4MP:00053707.9CHUK, FURIN, IKBKG, MSX1, TAB2, TRAF6
5MP:00053717.7CHUK, EDAR, EDARADD, FURIN, MSX1, PAX9
6MP:00053797.6CHUK, EDAR, EDARADD, IKBKG, MSX1, PAX9
7MP:00053977.1CHUK, EDARADD, FURIN, IKBKG, IRAK4, PAX9
8MP:00107716.9CHUK, EDAR, EDARADD, FURIN, IKBKG, MSX1
9MP:00053786.5CHUK, EDAR, EDARADD, FURIN, IKBKG, MSX1

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:

68 (show all 17)
id Symbol AA change Variation ID SNP ID
1EDARp.Cys87ArgVAR_013448rs121908451
2EDARp.Arg89HisVAR_013449rs121908450
3EDARp.Arg420GlnVAR_013450rs121908453
4EDARp.Cys47TyrVAR_054444
5EDARp.Asp110AlaVAR_054445rs121908455
6EDARp.Cys148ArgVAR_054446
7EDARp.Arg375HisVAR_054447rs121908454
8EDARp.Leu377PheVAR_054448
9EDARp.Gly382SerVAR_054449rs747806672
10EDARp.Thr403MetVAR_054450
11EDARp.Thr413ProVAR_054451
12EDARp.Ile418ThrVAR_054452
13EDARp.Trp434CysVAR_054453rs528478080
14EDARp.Arg98GlnVAR_064830rs144473052
15EDARp.Arg358GlnVAR_064831
16EDARp.Ile408PheVAR_064833
17EDARp.Trp434ArgVAR_064834rs773885029

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

5 (show all 53)
id Gene Variation Type Significance SNP ID Assembly Location
1EDANM_001399.4(EDA): c.463C> T (p.Arg155Cys)single nucleotide variantPathogenicrs132630312GRCh37Chr X, 69176943: 69176943
2EDANM_001399.4(EDA): c.467G> A (p.Arg156His)single nucleotide variantPathogenicrs132630314GRCh37Chr X, 69176947: 69176947
3EDANM_001399.4(EDA): c.(?_397-304)_(460_?)deldeletionPathogenicGRCh37Chr X, 69176573: 69176940
4EDANM_001399.4(EDA): c.(?_503)-88_(1176_?)deldeletionPathogenicGRCh37Chr X, 69242980: 69255459
5EDANM_001399.4(EDA): c.676C> T (p.Gln226Ter)single nucleotide variantPathogenicrs727503007GRCh37Chr X, 69247856: 69247856
6EDANM_001399.4(EDA): c.809delT (p.Val270Glyfs)deletionPathogenicrs727503008GRCh37Chr X, 69253263: 69253263
7EDANM_001399.4(EDA): c.822G> A (p.Trp274Ter)single nucleotide variantPathogenicrs397516675GRCh37Chr X, 69253276: 69253276
8EDANM_001399.4(EDA): c.948delC (p.Phe317Leufs)deletionPathogenicrs727503010GRCh37Chr X, 69255231: 69255231
9EDANM_001399.4(EDA): c.991C> T (p.Gln331Ter)single nucleotide variantPathogenicrs727503011GRCh37Chr X, 69255274: 69255274
10NC_000002.12: g.(?_108896907)_(108906334_?)deldeletionPathogenicGRCh37Chr 2, 109513363: 109522790
11EDANM_001399.4(EDA): c.766C> T (p.Gln256Ter)single nucleotide variantPathogenicrs727504417GRCh37Chr X, 69250343: 69250343
12EDANM_001399.4(EDA): c.396+1G> Asingle nucleotide variantPathogenicrs727504537GRCh38Chr X, 69616705: 69616705
13EDANM_001399.4(EDA): c.474A> C (p.Lys158Asn)single nucleotide variantPathogenicrs727504649GRCh38Chr X, 69957104: 69957104
14EDANM_001399.4(EDA): c.(?_397)_(502_?)del (p.(?))deletionPathogenicGRCh38Chr X, 69957027: 69957132
15EDANM_001399.4(EDA): c.(?_925)_(1176_?)del (p.(?))deletionPathogenicGRCh38Chr X, 70035358: 70035609
16EDANM_001399.4(EDA): c.396+2T> Gsingle nucleotide variantPathogenicrs727504814GRCh38Chr X, 69616706: 69616706
17EDANM_001399.4(EDA): c.502+1G> Asingle nucleotide variantPathogenicrs727505013GRCh38Chr X, 69957133: 69957133
18EDANM_001399.4(EDA): c.132_135dupGGGT (p.Phe46Glyfs)duplicationPathogenicrs727505089GRCh38Chr X, 69616440: 69616443
19EDANM_001399.4(EDA): c.(?_-115)_(174_?)deldeletionPathogenicGRCh38Chr X, 69616194: 69616482
20NM_022336.3(EDAR): c.1144G> A (p.Gly382Ser)single nucleotide variantPathogenicrs747806672GRCh37Chr 2, 109513566: 109513566
21EDANM_001399.4(EDA): c.319_322dupGGGC (p.Gln108Argfs)duplicationPathogenicrs876657684GRCh38Chr X, 69616627: 69616630
22EDANM_001399.4(EDA): c.648_683del36 (p.Pro219_Gly230del)deletionPathogenicrs876657685GRCh38Chr X, 70027978: 70028013
23EDANM_001399.4(EDA): c.659_676del18 (p.Pro220_Pro225del)deletionPathogenicrs876657686GRCh38Chr X, 70027989: 70028006
24EDANM_001399.4(EDA): c.960T> G (p.Tyr320Ter)single nucleotide variantPathogenicrs876657687GRCh38Chr X, 70035393: 70035393
25EDANM_001399.4(EDA): c.(?_707)_(741_?)del (p.(?))deletionPathogenic
26EDARNM_022336.3(EDAR): c.(?_509)_(803_?)+34deldeletionPathogenic
27EDARADDNM_080738.3(EDARADD): c.424G> A (p.Glu142Lys)single nucleotide variantPathogenicrs74315309GRCh37Chr 1, 236645755: 236645755
28EDARADDNM_080738.3(EDARADD): c.335T> G (p.Leu112Arg)single nucleotide variantPathogenicrs121908116GRCh37Chr 1, 236645666: 236645666
29EDANM_001399.4(EDA): c.272dupG (p.Ser91Argfs)duplicationPathogenicrs397516656GRCh37Chr X, 68836424: 68836424
30EDANM_001399.4(EDA): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs397516659GRCh37Chr X, 68836154: 68836154
31EDANM_001399.4(EDA): c.329C> A (p.Ser110Ter)single nucleotide variantPathogenicrs397516660GRCh37Chr X, 68836481: 68836481
32EDANM_001399.4(EDA): c.347T> A (p.Leu116Ter)single nucleotide variantPathogenicrs397516661GRCh37Chr X, 68836499: 68836499
33EDANM_001399.4(EDA): c.457C> T (p.Arg153Cys)single nucleotide variantPathogenicrs397516662GRCh37Chr X, 69176937: 69176937
34EDANM_001399.4(EDA): c.467G> T (p.Arg156Leu)single nucleotide variantPathogenicrs132630314GRCh37Chr X, 69176947: 69176947
35EDANM_001399.4(EDA): c.546_581del36 (p.Asn185_Pro196del)deletionPathogenicrs397516665GRCh37Chr X, 69247726: 69247761
36EDANM_001399.4(EDA): c.553_588del36 (p.Asn185_Pro196del)deletionPathogenicrs397516666GRCh37Chr X, 69247733: 69247768
37EDANM_001399.4(EDA): c.562_589del28 (p.Pro188Argfs)deletionPathogenicrs397516667GRCh37Chr X, 69247742: 69247769
38EDANM_001399.4(EDA): c.572_589del18 (p.Pro191_Pro196del)deletionPathogenicrs397516668GRCh37Chr X, 69247752: 69247769
39EDANM_001399.4(EDA): c.663_697del35 (p.Pro222Thrfs)deletionPathogenicrs397516670GRCh37Chr X, 69247843: 69247877
40EDANM_001399.4(EDA): c.730C> T (p.Arg244Ter)single nucleotide variantPathogenicrs397516672GRCh37Chr X, 69249377: 69249377
41EDANM_001399.4(EDA): c.822delG (p.Trp274Cysfs)deletionPathogenicrs397516676GRCh37Chr X, 69253276: 69253276
42EDANM_001399.4(EDA): c.871G> A (p.Gly291Arg)single nucleotide variantPathogenicrs397516677GRCh37Chr X, 69253325: 69253325
43EDANM_001399.4(EDA): c.961G> T (p.Glu321Ter)single nucleotide variantPathogenicrs397516682GRCh37Chr X, 69255244: 69255244
44EDAREDAR, 18-BP DEL, IVS2deletionPathogenic
45NM_022336.3(EDAR): c.266G> A (p.Arg89His)single nucleotide variantPathogenicrs121908450GRCh37Chr 2, 109545744: 109545744
46EDAREDAR, DELdeletionPathogenic
47NM_022336.3(EDAR): c.259T> C (p.Cys87Arg)single nucleotide variantPathogenicrs121908451GRCh37Chr 2, 109545751: 109545751
48NM_022336.3(EDAR): c.51+1G> Asingle nucleotide variantPathogenicrs797044435GRCh38Chr 2, 108930963: 108930963
49NM_022336.3(EDAR): c.1124G> A (p.Arg375His)single nucleotide variantPathogenicrs121908454GRCh37Chr 2, 109513586: 109513586
50NM_022336.3(EDAR): c.329A> C (p.Asp110Ala)single nucleotide variantPathogenicrs121908455GRCh37Chr 2, 109545681: 109545681
51NM_022336.3(EDAR): c.719_722delAAGA (p.Lys240Argfs)deletionPathogenicrs797044436GRCh37Chr 2, 109527240: 109527243
52NM_022336.3(EDAR): c.803+1G> Asingle nucleotide variantPathogenicrs797044437GRCh38Chr 2, 108910459: 108910459
53EDARADDNM_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 47)
idSuper pathwaysScoreTop Affiliating Genes
19.9CHUK, IKBKG
29.9CHUK, IKBKG
39.5CHUK, FURIN, IKBKG
4
Show member pathways
9.5CHUK, IKBKG, IRAK4
59.2CHUK, IKBKG, TRAF6
69.2CHUK, IKBKG, TRAF6
7
Show member pathways
9.2CHUK, IKBKG, TRAF6
8
Show member pathways
9.2CHUK, IKBKG, TRAF6
99.2CHUK, IKBKG, TRAF6
10
Show member pathways
9.2CHUK, IKBKG, TRAF6
11
Show member pathways
9.2CHUK, IKBKG, TRAF6
129.2CHUK, IKBKG, TRAF6
13
Show member pathways
9.2CHUK, IKBKG, TRAF6
149.2CHUK, IKBKG, TRAF6
15
Show member pathways
9.2CHUK, IKBKG, TRAF6
169.2CHUK, IKBKG, TRAF6
17
Show member pathways
9.2CHUK, FURIN, TRAF6
18
Show member pathways
9.0TAB2, TRAF6
199.0CHUK, IKBKG, TAB2
20
Show member pathways
9.0TAB2, TRAF6
21
Show member pathways
8.9EDA, EDA2R, EDAR, EDARADD, IRAK4
22
Show member pathways
8.9CHUK, FURIN, IKBKG, TRAF6
23
Show member pathways
8.9CHUK, IKBKG, IRAK4, TRAF6
248.8CHUK, IKBKG, MSX1, WNT10A
258.7CHUK, IKBKG, TRAF6, WNT10A
268.7MSX1, PAX9, TAB2
278.4CHUK, IKBKG, TAB2, TRAF6
28
Show member pathways
8.4CHUK, IKBKG, TAB2, TRAF6
29
Show member pathways
8.4CHUK, IKBKG, TAB2, TRAF6
30
Show member pathways
8.4CHUK, IKBKG, TAB2, TRAF6
31
Show member pathways
8.4CHUK, IKBKG, TAB2, TRAF6
328.4CHUK, IKBKG, TAB2, TRAF6
338.4CHUK, IKBKG, TAB2, TRAF6
34
Show member pathways
8.4CHUK, IKBKG, TAB2, TRAF6
358.4CHUK, IKBKG, TAB2, TRAF6
36
Show member pathways
8.0CHUK, IKBKG, IRAK4, TAB2, TRAF6
37
Show member pathways
8.0CHUK, IKBKG, IRAK4, TAB2, TRAF6
38
Show member pathways
8.0CHUK, IKBKG, IRAK4, TAB2, TRAF6
398.0CHUK, IKBKG, IRAK4, TAB2, TRAF6
40
Show member pathways
8.0CHUK, IKBKG, IRAK4, TAB2, TRAF6
41
Show member pathways
8.0CHUK, IKBKG, IRAK4, TAB2, TRAF6
42
Show member pathways
8.0CHUK, IKBKG, IRAK4, TAB2, TRAF6
43
Show member pathways
8.0CHUK, IKBKG, IRAK4, TAB2, TRAF6
448.0CHUK, IKBKG, IRAK4, TAB2, TRAF6
45
Show member pathways
7.7CHUK, FURIN, IKBKG, IRAK4, TAB2, TRAF6
46
Show member pathways
7.1CHUK, EDA, EDA2R, EDAR, IKBKG, IRAK4
47
Show member pathways
6.8CHUK, EDA, EDA2R, EDAR, EDARADD, IKBKG

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

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

idNameGO IDScoreTop Affiliating Genes
1IkappaB kinase complexGO:000838510.1CHUK, IKBKG
2CD40 receptor complexGO:00356319.5CHUK, TRAF6
3endosome membraneGO:00100088.4IRAK4, TAB2, TRAF6

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
1salivary gland cavitationGO:006066210.6EDA, EDAR
2positive regulation of NF-kappaB import into nucleusGO:004234610.6EDA, EDAR
3TRIF-dependent toll-like receptor signaling pathwayGO:003566610.4CHUK, IKBKG
4stress-activated MAPK cascadeGO:005140310.4CHUK, IKBKG
5regulation of tumor necrosis factor-mediated signaling pathwayGO:001080310.3CHUK, IKBKG
6regulation of odontogenesisGO:004248110.2MSX1, PAX9
7toll-like receptor 9 signaling pathwayGO:003416210.1IRAK4, TRAF6
8pigmentationGO:004347310.0EDA, EDAR
9toll-like receptor signaling pathwayGO:00022249.9IRAK4, TRAF6
10tumor necrosis factor-mediated signaling pathwayGO:00332099.8EDA, EDA2R, EDAR, EDARADD
11face morphogenesisGO:00603259.7MSX1, PAX9
12odontogenesisGO:00424769.5MSX1, PAX9, WNT10A
13MyD88-dependent toll-like receptor signaling pathwayGO:00027559.3IRAK4, TAB2, TRAF6
14odontogenesis of dentin-containing toothGO:00424759.0EDA, EDAR, MSX1, TRAF6
15immune responseGO:00069559.0CHUK, EDA, IKBKG, TRAF6
16I-kappaB kinase/NF-kappaB signalingGO:00072499.0CHUK, IKBKG, TAB2, TRAF6
17Fc-epsilon receptor signaling pathwayGO:00380958.9CHUK, IKBKG, TAB2, TRAF6
18stimulatory C-type lectin receptor signaling pathwayGO:00022238.9CHUK, IKBKG, TAB2, TRAF6
19nucleotide-binding oligomerization domain containing signaling pathwayGO:00704238.9CHUK, IKBKG, TAB2, TRAF6
20JNK cascadeGO:00072548.9IKBKG, IRAK4, TAB2, TRAF6
21T cell receptor signaling pathwayGO:00508528.8CHUK, IKBKG, TAB2, TRAF6
22activation of MAPK activityGO:00001878.7IKBKG, TAB2, TRAF6
23positive regulation of NF-kappaB transcription factor activityGO:00510928.1CHUK, EDA, EDA2R, IKBKG, TAB2, TRAF6
24positive regulation of transcription from RNA polymerase II promoterGO:00459448.0CHUK, IKBKG, MSX1, PAX9, TRAF6
25positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431237.5CHUK, EDA, EDA2R, EDAR, IKBKG, IRAK4

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

idNameGO IDScoreTop Affiliating Genes
1tumor necrosis factor receptor bindingGO:00051649.6EDA, TRAF6
2K63-linked polyubiquitin bindingGO:00705309.4IKBKG, TAB2

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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet