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,...

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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 52 70 12 68
Hypohidrotic Ectodermal Dysplasia 11 23 48 24 25 54 13
Christ-Siemens-Touraine Syndrome 11 23 48 24 25 68
Anhidrotic Ectodermal Dysplasia 23 48 24 25 54
Hed 48 25 54 70
Ectodermal Dysplasia, Hypohidrotic 48 27 50
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 39 68
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive 70 27
Hypohidrotic Ectodermal Dysplasia, X-Linked 24 27
Ectodermal Dysplasia Anhidrotic 48 70
Cst Syndrome 48 25
Eda 48 70
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 68
Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 68
Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 68
 
X-Linked Hypohidrotic Ectodermal Dysplasia 48
Hypohidrotic Ectodermal Dysplasia X-Linked 48
Hypohidrotic X-Linked Ectodermal Dysplasia 11
Anhidrotic Ectodermal Dysplasia, X-Linked 24
Anhidrotic Ectodermal Dysplasia X-Linked 48
Ectodermal Dysplasia 1, Anhydrotic 11
Ectodermal Dysplasia 3, Anhidrotic 68
Ectodermal Dysplasia 1, Anhidrotic 39
Anhidrotic Ectodermal Dysplasia 3 11
Ectodermal Dysplasia 1 48
Ectd10b 70
Xlhed 24
Xlaed 24
Xhed 48

Characteristics:

Orphanet epidemiological data:

54
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:

64
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 224900
Disease Ontology11 DOID:14793
NCIt45 C84562
Orphanet54 ORPHA238468
ICD10 via Orphanet31 Q82.4
MedGen37 C0406702

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

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OMIM:52 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 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 testes, and related mouse phenotypes are Downregulation of NF-kappaB pathway after TNFalpha stimulation and pigmentation.

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).

Genetics Home Reference:25 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:48 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:70 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 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 all 39)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency33.6CHUK, IKBKG, TRAF6
2ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant32.9EDAR, EDARADD
3ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive32.8EDAR, EDARADD
4ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant32.3EDAR, EDARADD, TRAF6
5ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency12.4
6hypohidrotic ectodermal dysplasia with immunodeficiency12.1
7hypohidrotic ectodermal dysplasia autosomal recessive12.1
8hypohidrotic ectodermal dysplasia, autosomal12.1
9immunodeficiency, isolated11.9
10ectodermal dysplasia, hypohidrotic, with immune deficiency11.8
11rapp-hodgkin syndrome11.8
12ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia11.8
13agammaglobulinemia, x-linked 111.8
14ectodermal dysplasia 1, hypohidrotic, x-linked11.5
15ectodermal dysplasia 2, clouston type11.5
16agammaglobulinemia and isolated hormone deficiency11.4
17gnas hyperfunction10.9
18agammaglobulinemia 110.8
19hydrocephalus due to congenital stenosis of aqueduct of sylvius10.8
20idh3b-related retinitis pigmentosa10.4EDAR, EDARADD
21agammaglobulinemia10.4
22pertussis10.3EDA, EDAR, EDARADD
23cleft palate with ankyloglossia10.3EDA, EDA2R
24scleroperikeratitis10.3EDA, EDAR, EDARADD
25ectodermal dysplasia10.3
26walker dyson syndrome10.2EDAR, EDARADD, WNT10A
27tactile epilepsy10.1EDAR, WNT10A
28suppurative uveitis10.1EDA, TNF
29emery-dreifuss muscular dystrophy, x-linked10.0EDA, EDAR, EDARADD, IKBKG
30dementia, familial british10.0EDA, EDAR, EDARADD, WNT10A
31glioblastoma classical subtype9.9EDA2R, WNT10A
32popliteal pterygium syndrome 19.9CHUK, IKBKG
33alport syndrome9.8
34neutropenia9.8
35pancytopenia9.8
36cellulitis9.8
37neuroschistosomiasis9.6EDA, EDARADD, MSX1, PAX9
38eosinophilic gastroenteritis9.5MSX1, PAX9, TNF
39glycogen storage disease ix8.3EDA, EDA2R, EDAR, EDARADD, MSX1, PAX9

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

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Symptoms by clinical synopsis from OMIM:

224900

Clinical features from OMIM:

224900

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

 64 54 (show all 48)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thick lower lip vermilion64 hallmark (90%) HP:0000179
2 dry skin64 54 hallmark (90%) Very frequent (99-80%) HP:0000958
3 thin skin64 54 hallmark (90%) Very frequent (99-80%) HP:0000963
4 keratoconjunctivitis sicca64 54 hallmark (90%) Very frequent (99-80%) HP:0001097
5 abnormal facial shape64 54 hallmark (90%) Very frequent (99-80%) HP:0001999
6 abnormality of dental morphology64 54 hallmark (90%) Very frequent (99-80%) HP:0006482
7 irregular hyperpigmentation64 54 hallmark (90%) Very frequent (99-80%) HP:0007400
8 reduced number of teeth64 54 hallmark (90%) Very frequent (99-80%) HP:0009804
9 xerostomia64 54 typical (50%) Frequent (79-30%) HP:0000217
10 sinusitis64 54 typical (50%) Frequent (79-30%) HP:0000246
11 anteverted nares64 54 typical (50%) Frequent (79-30%) HP:0000463
12 hyperkeratosis64 54 typical (50%) Frequent (79-30%) HP:0000962
13 eczema64 54 typical (50%) Frequent (79-30%) HP:0000964
14 hypohidrosis64 54 typical (50%) Frequent (79-30%) HP:0000966
15 frontal bossing64 54 typical (50%) Frequent (79-30%) HP:0002007
16 slow-growing hair64 54 typical (50%) Frequent (79-30%) HP:0002217
17 depressed nasal bridge64 typical (50%) HP:0005280
18 hypopigmentation of hair64 typical (50%) HP:0005599
19 abnormality of hair texture64 typical (50%) HP:0010719
20 aplasia/hypoplasia of the eyebrow64 54 typical (50%) Frequent (79-30%) HP:0100840
21 abnormality of the nail64 54 occasional (7.5%) Occasional (29-5%) HP:0001597
22 abnormal hair quantity64 54 occasional (7.5%) Occasional (29-5%) HP:0011362
23 cognitive impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0100543
24 breast aplasia64 54 occasional (7.5%) Occasional (29-5%) HP:0100783
25 everted lower lip vermilion64 HP:0000232
26 sparse and thin eyebrow64 HP:0000535
27 periorbital wrinkles64 HP:0000607
28 sparse eyelashes64 HP:0000653
29 hypodontia64 HP:0000668
30 anodontia64 HP:0000674
31 microdontia64 HP:0000691
32 anhidrosis64 HP:0000970
33 hypotrichosis64 HP:0001006
34 periorbital hyperpigmentation64 HP:0001106
35 heat intolerance64 HP:0002046
36 hypohidrotic ectodermal dysplasia64 HP:0007607
37 everted upper lip vermilion64 HP:0010803
38 thick vermilion border64 54 Very frequent (99-80%) HP:0012471
39 nephrotic syndrome54 Frequent (79-30%)
40 abnormality of the teeth54 Very frequent (99-80%)
41 hypoplasia of the maxilla54 Very frequent (99-80%)
42 failure to thrive54 Occasional (29-5%)
43 abnormality of the abdominal wall54 Frequent (79-30%)
44 trichorrhexis nodosa54 Frequent (79-30%)
45 abnormality of immune system physiology54 Very frequent (99-80%)
46 generalized hypopigmentation of hair54 Frequent (79-30%)
47 cough54 Frequent (79-30%)
48 inflammatory abnormality of the eye54 Frequent (79-30%)

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


dyspnea, dry skin, koilonychia

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00199-A-210.2CHUK, IKBKG, TRAF6

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

41 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.5EDAR, EDARADD, IKBKG, TRAF6, WNT10A
2MP:00053818.6CHUK, EDAR, FURIN, IKBKG, MSX1, PAX9
3MP:00053828.4CHUK, EDAR, EDARADD, MSX1, PAX9, TNF
4MP:00053798.1CHUK, EDAR, EDARADD, IKBKG, MSX1, PAX9
5MP:00053718.0CHUK, EDAR, EDARADD, FURIN, MSX1, PAX9
6MP:00053918.0CHUK, EDAR, EDARADD, MSX1, TNF, TRAF6
7MP:00053707.9CHUK, FURIN, IKBKG, MSX1, TAB2, TNF
8MP:00053877.7CHUK, FURIN, IKBKG, IRAK4, PAX9, TAB2
9MP:00053977.5CHUK, EDARADD, FURIN, IKBKG, IRAK4, PAX9
10MP:00053787.4CHUK, EDAR, EDARADD, FURIN, IKBKG, MSX1
11MP:00107717.0CHUK, EDAR, EDARADD, FURIN, IKBKG, MSX1
12MP:00107686.9CHUK, EDAR, EDARADD, FURIN, IKBKG, MSX1

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, Local3272
2Anesthetics9001

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
3Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial VariationCompletedNCT01386775
4Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - ACompletedNCT01293565
5Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical PhenotypeCompletedNCT01398397
6Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012)CompletedNCT01629927
7Phenotypic 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
8Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal DysplasiaCompletedNCT01109290
9Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal DysplasiaCompletedNCT01308333
10Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal DysplasiaCompletedNCT01135888
11X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction SurveyCompletedNCT01398813
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 Dysplasia27
2 Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome27
3 Hypohidrotic Ectodermal Dysplasia27 24 EDAR, EDARADD
4 Hypohidrotic Ectodermal Dysplasia, X-Linked24 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:

36
Skin, Eye, Testes, Breast

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:

70 (show all 17)
id Symbol AA change Variation ID SNP ID
1EDARp.Cys87ArgVAR_013448rs121908451
2EDARp.Arg89HisVAR_013449rs121908450
3EDARp.Arg420GlnVAR_013450rs121908453
4EDARp.Cys47TyrVAR_054444rs778903951
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)SNVPathogenicrs132630312GRCh37Chr X, 69176943: 69176943
2EDANM_001399.4(EDA): c.467G> A (p.Arg156His)SNVPathogenicrs132630314GRCh37Chr 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)SNVPathogenicrs727503007GRCh37Chr X, 69247856: 69247856
6EDANM_001399.4(EDA): c.809delT (p.Val270Glyfs)deletionPathogenicrs727503008GRCh37Chr X, 69253263: 69253263
7EDANM_001399.4(EDA): c.822G> A (p.Trp274Ter)SNVPathogenicrs397516675GRCh37Chr X, 69253276: 69253276
8EDANM_001399.4(EDA): c.948delC (p.Phe317Leufs)deletionPathogenicrs727503010GRCh37Chr X, 69255231: 69255231
9EDANM_001399.4(EDA): c.991C> T (p.Gln331Ter)SNVPathogenicrs727503011GRCh37Chr X, 69255274: 69255274
10EDARNC_000002.12: g.(?_108896907)_(108906334_?)deldeletionPathogenicGRCh37Chr 2, 109513363: 109522790
11EDANM_001399.4(EDA): c.766C> T (p.Gln256Ter)SNVPathogenicrs727504417GRCh37Chr X, 69250343: 69250343
12EDANM_001399.4(EDA): c.396+1G> ASNVPathogenicrs727504537GRCh37Chr X, 68836549: 68836549
13EDANM_001399.4(EDA): c.474A> C (p.Lys158Asn)SNVPathogenicrs727504649GRCh37Chr X, 69176954: 69176954
14EDANM_001399.4(EDA): c.(?_397)_(502_?)del (p.(?))deletionPathogenicGRCh37Chr X, 69176877: 69176982
15EDANM_001399.4(EDA): c.(?_925)_(1176_?)del (p.(?))deletionPathogenicGRCh37Chr X, 69255208: 69255459
16EDANM_001399.4(EDA): c.396+2T> GSNVPathogenicrs727504814GRCh37Chr X, 68836550: 68836550
17EDANM_001399.4(EDA): c.502+1G> ASNVPathogenicrs727505013GRCh37Chr X, 69176983: 69176983
18EDANM_001399.4(EDA): c.132_135dupGGGT (p.Phe46Glyfs)duplicationPathogenicrs727505089GRCh37Chr X, 68836284: 68836287
19EDANM_001399.4(EDA): c.(?_-115)_(174_?)deldeletionPathogenicGRCh38Chr X, 69616194: 69616482
20EDARNM_022336.3(EDAR): c.1144G> A (p.Gly382Ser)SNVPathogenicrs747806672GRCh37Chr 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)SNVPathogenicrs876657687GRCh38Chr X, 70035393: 70035393
25EDANM_001399.4(EDA): c.(?_707)_(741_?)del (p.(?))deletionPathogenicGRCh38Chr X, 70029504: 70029538
26EDARNM_022336.3(EDAR): c.(?_509)_(803_?)+34deldeletionPathogenicGRCh37Chr 2, 109526882: 109529154
27EDARADDNM_080738.3(EDARADD): c.424G> A (p.Glu142Lys)SNVPathogenicrs74315309GRCh37Chr 1, 236645755: 236645755
28EDARADDNM_080738.3(EDARADD): c.335T> G (p.Leu112Arg)SNVPathogenicrs121908116GRCh37Chr 1, 236645666: 236645666
29EDANM_001399.4(EDA): c.272dupG (p.Ser91Argfs)duplicationPathogenicrs397516656GRCh37Chr X, 68836424: 68836424
30EDANM_001399.4(EDA): c.2T> C (p.Met1Thr)SNVPathogenicrs397516659GRCh37Chr X, 68836154: 68836154
31EDANM_001399.4(EDA): c.329C> A (p.Ser110Ter)SNVPathogenicrs397516660GRCh37Chr X, 68836481: 68836481
32EDANM_001399.4(EDA): c.347T> A (p.Leu116Ter)SNVPathogenicrs397516661GRCh37Chr X, 68836499: 68836499
33EDANM_001399.4(EDA): c.457C> T (p.Arg153Cys)SNVPathogenicrs397516662GRCh37Chr X, 69176937: 69176937
34EDANM_001399.4(EDA): c.467G> T (p.Arg156Leu)SNVPathogenicrs132630314GRCh37Chr 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)SNVPathogenicrs397516672GRCh37Chr X, 69249377: 69249377
41EDANM_001399.4(EDA): c.822delG (p.Trp274Cysfs)deletionPathogenicrs397516676GRCh37Chr X, 69253276: 69253276
42EDANM_001399.4(EDA): c.871G> A (p.Gly291Arg)SNVPathogenicrs397516677GRCh37Chr X, 69253325: 69253325
43EDANM_001399.4(EDA): c.961G> T (p.Glu321Ter)SNVPathogenicrs397516682GRCh37Chr X, 69255244: 69255244
44EDAREDAR, 18-BP DEL, IVS2deletionPathogenicChr na, -1: -1
45EDARNM_022336.3(EDAR): c.266G> A (p.Arg89His)SNVPathogenicrs121908450GRCh37Chr 2, 109545744: 109545744
46EDAREDAR, DELdeletionPathogenicChr na, -1: -1
47EDARNM_022336.3(EDAR): c.259T> C (p.Cys87Arg)SNVPathogenicrs121908451GRCh37Chr 2, 109545751: 109545751
48EDARNM_022336.3(EDAR): c.51+1G> ASNVPathogenicrs797044435GRCh37Chr 2, 109547419: 109547419
49EDARNM_022336.3(EDAR): c.1124G> A (p.Arg375His)SNVPathogenicrs121908454GRCh37Chr 2, 109513586: 109513586
50EDARNM_022336.3(EDAR): c.329A> C (p.Asp110Ala)SNVPathogenicrs121908455GRCh37Chr 2, 109545681: 109545681
51EDARNM_022336.3(EDAR): c.719_722delAAGA (p.Lys240Argfs)deletionPathogenicrs797044436GRCh37Chr 2, 109527240: 109527243
52EDARNM_022336.3(EDAR): c.803+1G> ASNVPathogenicrs797044437GRCh38Chr 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 top 50)    (show all 53)
idSuper pathwaysScoreTop Affiliating Genes
19.9CHUK, IKBKG
29.9CHUK, IKBKG
39.7CHUK, TNF
49.4CHUK, IKBKG, TRAF6
5
Show member pathways
9.4CHUK, IKBKG, TRAF6
6
Show member pathways
9.4CHUK, IKBKG, TRAF6
7
Show member pathways
9.4CHUK, IKBKG, TRAF6
89.4CHUK, IKBKG, TRAF6
99.4CHUK, IKBKG, TNF
109.4CHUK, IKBKG, TNF
11
Show member pathways
9.4CHUK, IKBKG, TNF
12
Show member pathways
9.3CHUK, FURIN, TRAF6
13
Show member pathways
9.1TAB2, TRAF6
149.1IRAK4, TNF, TRAF6
159.1IRAK4, TNF, TRAF6
16
Show member pathways
9.0CHUK, FURIN, IKBKG, TRAF6
179.0CHUK, IKBKG, TRAF6, WNT10A
188.8CHUK, IKBKG, TNF, TRAF6
198.8CHUK, IKBKG, TNF, TRAF6
20
Show member pathways
8.8CHUK, IKBKG, TNF, TRAF6
21
Show member pathways
8.8CHUK, IKBKG, TNF, TRAF6
228.8CHUK, IKBKG, TNF, TRAF6
23
Show member pathways
8.8CHUK, IKBKG, TNF, TRAF6
24
Show member pathways
8.8CHUK, IKBKG, TNF, TRAF6
25
Show member pathways
8.8CHUK, IKBKG, TNF, TRAF6
268.8CHUK, IKBKG, TNF, TRAF6
278.6MSX1, PAX9, TAB2
28
Show member pathways
8.5CHUK, IKBKG, TAB2, TRAF6
29
Show member pathways
8.5CHUK, IKBKG, TAB2, TRAF6
308.5CHUK, IKBKG, TAB2, TRAF6
31
Show member pathways
8.5CHUK, IKBKG, TAB2, TRAF6
32
Show member pathways
8.5CHUK, IKBKG, TAB2, TRAF6
338.5CHUK, IKBKG, TAB2, TNF
34
Show member pathways
8.5CHUK, IKBKG, TAB2, TNF
35
Show member pathways
8.5CHUK, IKBKG, IRAK4, TNF, TRAF6
36
Show member pathways
8.5EDA, EDA2R, EDAR, EDARADD, IRAK4, TNF
378.3CHUK, IKBKG, MSX1, TNF, WNT10A
38
Show member pathways
8.2CHUK, IKBKG, IRAK4, TAB2, TRAF6
39
Show member pathways
8.2CHUK, IKBKG, IRAK4, TAB2, TRAF6
408.0CHUK, IKBKG, TAB2, TNF, TRAF6
418.0CHUK, IKBKG, TAB2, TNF, TRAF6
42
Show member pathways
8.0CHUK, IKBKG, TAB2, TNF, TRAF6
43
Show member pathways
7.7CHUK, IKBKG, IRAK4, TAB2, TNF, TRAF6
447.7CHUK, IKBKG, IRAK4, TAB2, TNF, TRAF6
45
Show member pathways
7.7CHUK, IKBKG, IRAK4, TAB2, TNF, TRAF6
46
Show member pathways
7.7CHUK, IKBKG, IRAK4, TAB2, TNF, TRAF6
47
Show member pathways
7.7CHUK, IKBKG, IRAK4, TAB2, TNF, TRAF6
487.7CHUK, IKBKG, IRAK4, TAB2, TNF, TRAF6
49
Show member pathways
7.7CHUK, IKBKG, IRAK4, TAB2, TNF, TRAF6
50
Show member pathways
7.7CHUK, IKBKG, IRAK4, TAB2, TNF, TRAF6

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
1CD40 receptor complexGO:00356319.9CHUK, TRAF6
2IkappaB kinase complexGO:00083859.9CHUK, IKBKG

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

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1salivary gland cavitationGO:006066210.6EDA, EDAR
2stress-activated MAPK cascadeGO:005140310.5CHUK, IKBKG
3TRIF-dependent toll-like receptor signaling pathwayGO:003566610.4CHUK, IKBKG
4positive regulation of membrane protein ectodomain proteolysisGO:005104410.4FURIN, TNF
5positive regulation of NF-kappaB import into nucleusGO:004234610.2EDA, EDAR, TNF
6toll-like receptor 9 signaling pathwayGO:003416210.2IRAK4, TRAF6
7osteoclast differentiationGO:003031610.2TNF, TRAF6
8toll-like receptor signaling pathwayGO:000222410.2IRAK4, TRAF6
9positive regulation of osteoclast differentiationGO:004567210.2TNF, TRAF6
10regulation of immunoglobulin secretionGO:005102310.1TNF, TRAF6
11cellular response to nicotineGO:007131610.1MSX1, TNF
12positive regulation of JNK cascadeGO:004633010.1EDA2R, EDAR, TNF
13regulation of odontogenesisGO:004248110.1MSX1, PAX9
14regulation of tumor necrosis factor-mediated signaling pathwayGO:001080310.0CHUK, IKBKG, TNF
15response to virusGO:000961510.0CHUK, IKBKG, TNF
16immune responseGO:00069559.9CHUK, EDA, IKBKG, TRAF6
17positive regulation of smooth muscle cell proliferationGO:00486619.8IRAK4, TNF, TRAF6
18positive regulation of gene expressionGO:00106289.8EDA, EDAR, TNF, WNT10A
19odontogenesisGO:00424769.7MSX1, PAX9, WNT10A
20odontogenesis of dentin-containing toothGO:00424759.6EDA, EDAR, MSX1, TRAF6
21MyD88-dependent toll-like receptor signaling pathwayGO:00027559.5IRAK4, TAB2, TRAF6
22Fc-epsilon receptor signaling pathwayGO:00380959.3CHUK, IKBKG, TAB2, TRAF6
23nucleotide-binding oligomerization domain containing signaling pathwayGO:00704239.3CHUK, IKBKG, TAB2, TRAF6
24stimulatory C-type lectin receptor signaling pathwayGO:00022239.2CHUK, IKBKG, TAB2, TRAF6
25T cell receptor signaling pathwayGO:00508529.1CHUK, IKBKG, TAB2, TRAF6
26activation of MAPK activityGO:00001879.1IKBKG, TAB2, TNF, TRAF6
27tumor necrosis factor-mediated signaling pathwayGO:00332098.8EDA, EDA2R, EDAR, EDARADD, TNF
28I-kappaB kinase/NF-kappaB signalingGO:00072498.8CHUK, IKBKG, TAB2, TNF, TRAF6
29JNK cascadeGO:00072548.7IKBKG, IRAK4, TAB2, TNF, TRAF6
30positive regulation of transcription from RNA polymerase II promoterGO:00459448.4CHUK, IKBKG, MSX1, PAX9, TNF, TRAF6
31positive regulation of NF-kappaB transcription factor activityGO:00510928.1CHUK, EDA, EDA2R, IKBKG, TAB2, TNF
32positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431237.6CHUK, 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
1K63-linked polyubiquitin bindingGO:007053010.2IKBKG, TAB2
2tumor necrosis factor receptor bindingGO:00051649.2EDA, TNF, TRAF6
3protein bindingGO:00055155.5CHUK, EDA, EDA2R, EDAR, EDARADD, FURIN

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet