ECTD10B
MCID: ECT062
MIFTS: 59

Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive (ECTD10B) 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
Hypohidrotic X-Linked Ectodermal Dysplasia 11
 
X-Linked Hypohidrotic Ectodermal Dysplasia 48
Hypohidrotic Ectodermal Dysplasia X-Linked 48
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, heterogeneous

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 dyspnea, dyspnea and dry 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 Estrogen signaling pathway. Affiliated tissues include skin, eye and breast, 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 top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency33.6CHUK, IKBKG, TRAF6
2ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant31.8EDAR, EDARADD
3ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency12.4
4hypohidrotic ectodermal dysplasia with immunodeficiency12.1
5hypohidrotic ectodermal dysplasia autosomal recessive12.1
6hypohidrotic ectodermal dysplasia, autosomal12.1
7immunodeficiency, isolated11.9
8ectodermal dysplasia, hypohidrotic, with immune deficiency11.8
9rapp-hodgkin syndrome11.8
10ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia11.8
11agammaglobulinemia, x-linked 111.8
12ectodermal dysplasia 1, hypohidrotic, x-linked11.8
13ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant11.8
14agammaglobulinemia and isolated hormone deficiency11.4
15immunodeficiency 3311.2
16ectodermal dysplasia11.2
17ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive11.1
18viljoen winship syndrome11.0
19gnas hyperfunction10.9
20agammaglobulinemia 110.8
21hydrocephalus due to congenital stenosis of aqueduct of sylvius10.8
22anodontia10.5
23agammaglobulinemia10.4
24prostate cancer10.2EDAR, EDARADD
25hypothyroidism10.2
26neonatal respiratory failure10.1EDA, EDAR, EDARADD
27insr-related hyperinsulinism10.1EDAR, EDARADD, WNT10A
28cleft palate with ankyloglossia10.1EDA, EDA2R, EDARADD
29incontinentia pigmenti10.1
30alopecia10.1
31osteopetrosis10.1
32hypoplastic thumbs hydranencephaly10.1EDAR, EDARADD, WNT10A
33dementia, familial british10.0EDA, EDAR, EDARADD, WNT10A
34glioblastoma mesenchymal subtype9.9EDA2R, WNT10A
35end stage renal failure9.9CHUK, EDA, EDAR, EDARADD, IKBKG
36neuroblastoma9.9
37sudden infant death syndrome9.9
38cystic fibrosis9.9
39lelis syndrome9.9
40taurodontism9.9
41cataract9.9
42keratoconus9.9
43lymphedema9.9
44nasopharyngitis9.9
45myiasis9.9
46anhidrosis9.9
47panuveitis9.9
48ectropion9.9
49ichthyosis9.9
50squamous cell carcinoma9.9

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:

 54 64 (show all 52)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrotic syndrome64 54 Frequent (79-30%) HP:0000100
2 abnormality of the teeth54 Very frequent (99-80%)
3 xerostomia64 54 Frequent (79-30%) HP:0000217
4 sinusitis64 54 Frequent (79-30%) HP:0000246
5 hypoplasia of the maxilla64 54 Very frequent (99-80%) HP:0000327
6 anteverted nares64 54 Frequent (79-30%) HP:0000463
7 dry skin64 54 Very frequent (99-80%) HP:0000958
8 hyperkeratosis64 54 Frequent (79-30%) HP:0000962
9 thin skin64 54 Very frequent (99-80%) HP:0000963
10 eczema64 54 Frequent (79-30%) HP:0000964
11 hypohidrosis64 54 Frequent (79-30%) HP:0000966
12 keratoconjunctivitis sicca64 54 Very frequent (99-80%) HP:0001097
13 failure to thrive64 54 Occasional (29-5%) HP:0001508
14 abnormality of the nail64 54 Occasional (29-5%) HP:0001597
15 abnormal facial shape64 54 Very frequent (99-80%) HP:0001999
16 frontal bossing64 54 Frequent (79-30%) HP:0002007
17 slow-growing hair64 54 Frequent (79-30%) HP:0002217
18 abnormality of the abdominal wall64 54 Frequent (79-30%) HP:0004298
19 abnormality of dental morphology64 54 Very frequent (99-80%) HP:0006482
20 irregular hyperpigmentation64 54 Very frequent (99-80%) HP:0007400
21 reduced number of teeth64 54 Very frequent (99-80%) HP:0009804
22 trichorrhexis nodosa64 54 Frequent (79-30%) HP:0009886
23 abnormality of immune system physiology54 Very frequent (99-80%)
24 generalized hypopigmentation of hair64 54 Frequent (79-30%) HP:0011358
25 abnormal hair quantity64 54 Occasional (29-5%) HP:0011362
26 thick vermilion border64 54 Very frequent (99-80%) HP:0012471
27 cough64 54 Frequent (79-30%) HP:0012735
28 inflammatory abnormality of the eye54 Frequent (79-30%)
29 cognitive impairment64 54 Occasional (29-5%) HP:0100543
30 breast aplasia64 54 Occasional (29-5%) HP:0100783
31 aplasia/hypoplasia of the eyebrow64 54 Frequent (79-30%) HP:0100840
32 everted lower lip vermilion64 HP:0000232
33 sparse and thin eyebrow64 HP:0000535
34 periorbital wrinkles64 HP:0000607
35 sparse eyelashes64 HP:0000653
36 hypodontia64 HP:0000668
37 anodontia64 HP:0000674
38 microdontia64 HP:0000691
39 anhidrosis64 HP:0000970
40 hypotrichosis64 HP:0001006
41 periorbital hyperpigmentation64 HP:0001106
42 heat intolerance64 HP:0002046
43 depressed nasal bridge64 HP:0005280
44 hypohidrotic ectodermal dysplasia64 HP:0007607
45 everted upper lip vermilion64 HP:0010803
46 depressed nasal ridge64 HP:0000457
47 delayed eruption of teeth64 HP:0000684
48 hypertension64 HP:0000822
49 anterior hypopituitarism64 HP:0000830
50 sparse body hair64 HP:0002231
51 short distal phalanx of finger64 HP:0009882
52 type i diabetes mellitus64 HP:0100651

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


dyspnea, dry skin, koilonychia, spontaneous, recurrent epistaxis

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 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.5EDAR, EDARADD, IKBKG, TRAF6, WNT10A
2MP:00053898.6CHUK, EDAR, EDARADD, IKBKG, PAX9, TNF
3MP:00053818.6CHUK, EDAR, FURIN, IKBKG, MSX1, PAX9
4MP:00053798.1CHUK, EDAR, EDARADD, IKBKG, MSX1, PAX9
5MP:00053718.0CHUK, EDAR, EDARADD, FURIN, MSX1, PAX9
6MP:00053828.0CHUK, EDAR, EDARADD, MSX1, PAX9, TNF
7MP:00053707.9CHUK, FURIN, IKBKG, MSX1, TAB2, TNF
8MP:00053857.7CHUK, EDAR, FURIN, IKBKG, MSX1, TAB2
9MP:00053977.4CHUK, EDARADD, FURIN, IKBKG, IRAK4, PAX9
10MP:00053787.4CHUK, EDAR, EDARADD, FURIN, IKBKG, MSX1
11MP:00053907.4CHUK, EDARADD, MSX1, PAX9, TNF, TRAF6
12MP:00107717.0CHUK, EDAR, EDARADD, FURIN, IKBKG, MSX1
13MP: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, Local3492
2Anesthetics9596

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
3Sonography in Hypotension and Cardiac Arrest in the Emergency Department.Unknown statusNCT01419106
4Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial VariationCompletedNCT01386775
5Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - ACompletedNCT01293565
6Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical PhenotypeCompletedNCT01398397
7Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012)CompletedNCT01629927
8Phenotypic 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
9Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal DysplasiaCompletedNCT01109290
10Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal DysplasiaCompletedNCT01308333
11Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal DysplasiaCompletedNCT01135888
12X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction SurveyCompletedNCT01398813
13Phenotypic Properties in Individuals Affected With XLHEDCompletedNCT01871714
14Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal DysplasiaCompletedNCT01108770
15Sweat Duct Imaging in Mother/Newborn DyadsCompletedNCT01342133
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, 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 62)
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.(?_ 397)-340_ (496_ ?)dupduplicationLikely pathogenicGRCh37Chr X, 69176537: 69176976
20EDANM_ 001399.4(EDA): c.(?_ -115)_ (174_ ?)deldeletionPathogenicGRCh37Chr X, 68836038: 68836326
21EDARNM_ 022336.3(EDAR): c.1144G> A (p.Gly382Ser)SNVPathogenicrs747806672GRCh37Chr 2, 109513566: 109513566
22EDANM_ 001399.4(EDA): c.1067C> T (p.Ala356Val)SNVLikely pathogenicrs876657639GRCh38Chr X, 70035500: 70035500
23EDANM_ 001399.4(EDA): c.477A> T (p.Arg159Ser)SNVLikely pathogenicrs876657640GRCh37Chr X, 69176957: 69176957
24EDANM_ 001399.4(EDA): c.911A> C (p.Tyr304Ser)SNVLikely pathogenicrs876657642GRCh37Chr X, 69253365: 69253365
25EDANM_ 001399.4(EDA): c.319_ 322dupGGGC (p.Gln108Argfs)duplicationPathogenicrs876657684GRCh37Chr X, 68836471: 68836474
26EDANM_ 001399.4(EDA): c.648_ 683del36 (p.Pro219_ Gly230del)deletionPathogenicrs876657685GRCh38Chr X, 70027978: 70028013
27EDANM_ 001399.4(EDA): c.659_ 676del18 (p.Pro220_ Pro225del)deletionPathogenicrs876657686GRCh38Chr X, 70027989: 70028006
28EDANM_ 001399.4(EDA): c.960T> G (p.Tyr320Ter)SNVPathogenicrs876657687GRCh38Chr X, 70035393: 70035393
29EDANM_ 001399.4(EDA): c.(?_ 707)_ (741_ ?)del (p.(?))deletionPathogenicGRCh38Chr X, 70029504: 70029538
30EDARNM_ 022336.3(EDAR): c.(?_ 509)_ (803_ ?)+34deldeletionPathogenicGRCh37Chr 2, 109526882: 109529154
31EDARADDNM_ 080738.3(EDARADD): c.424G> A (p.Glu142Lys)SNVPathogenicrs74315309GRCh37Chr 1, 236645755: 236645755
32EDANM_ 001399.4(EDA): c.272dupG (p.Ser91Argfs)duplicationPathogenicrs397516656GRCh37Chr X, 68836424: 68836424
33EDANM_ 001399.4(EDA): c.164T> A (p.Leu55Gln)SNVLikely pathogenicrs397516657GRCh37Chr X, 68836316: 68836316
34EDANM_ 001399.4(EDA): c.2T> C (p.Met1Thr)SNVPathogenicrs397516659GRCh37Chr X, 68836154: 68836154
35EDANM_ 001399.4(EDA): c.329C> A (p.Ser110Ter)SNVPathogenicrs397516660GRCh37Chr X, 68836481: 68836481
36EDANM_ 001399.4(EDA): c.347T> A (p.Leu116Ter)SNVPathogenicrs397516661GRCh37Chr X, 68836499: 68836499
37EDANM_ 001399.4(EDA): c.457C> T (p.Arg153Cys)SNVPathogenicrs397516662GRCh37Chr X, 69176937: 69176937
38EDANM_ 001399.4(EDA): c.467G> T (p.Arg156Leu)SNVPathogenicrs132630314GRCh37Chr X, 69176947: 69176947
39EDANM_ 001399.4(EDA): c.526+5G> TSNVLikely pathogenicrs397516664GRCh37Chr X, 69243096: 69243096
40EDANM_ 001399.4(EDA): c.546_ 581del36 (p.Asn185_ Pro196del)deletionPathogenicrs397516665GRCh37Chr X, 69247726: 69247761
41EDANM_ 001399.4(EDA): c.553_ 588del36 (p.Asn185_ Pro196del)deletionPathogenicrs397516666GRCh37Chr X, 69247733: 69247768
42EDANM_ 001399.4(EDA): c.562_ 589del28 (p.Pro188Argfs)deletionPathogenicrs397516667GRCh37Chr X, 69247742: 69247769
43EDANM_ 001399.4(EDA): c.572_ 589del18 (p.Pro191_ Pro196del)deletionPathogenicrs397516668GRCh37Chr X, 69247752: 69247769
44EDANM_ 001399.4(EDA): c.663_ 697del35 (p.Pro222Thrfs)deletionPathogenicrs397516670GRCh37Chr X, 69247843: 69247877
45EDANM_ 001399.4(EDA): c.607C> T (p.Pro203Ser)SNVLikely pathogenicrs397516671GRCh37Chr X, 69247787: 69247787
46EDANM_ 001399.4(EDA): c.730C> T (p.Arg244Ter)SNVPathogenicrs397516672GRCh37Chr X, 69249377: 69249377
47EDANM_ 001399.4(EDA): c.822G> T (p.Trp274Cys)SNVLikely pathogenicrs397516675GRCh37Chr X, 69253276: 69253276
48EDANM_ 001399.4(EDA): c.822delG (p.Trp274Cysfs)deletionPathogenicrs397516676GRCh37Chr X, 69253276: 69253276
49EDANM_ 001399.4(EDA): c.871G> A (p.Gly291Arg)SNVPathogenicrs397516677GRCh37Chr X, 69253325: 69253325
50EDANM_ 001399.4(EDA): c.895G> A (p.Gly299Ser)SNVLikely pathogenicrs397516679GRCh37Chr X, 69253349: 69253349
51EDANM_ 001399.4(EDA): c.902A> G (p.Tyr301Cys)SNVLikely pathogenicrs397516681GRCh37Chr X, 69253356: 69253356
52EDANM_ 001399.4(EDA): c.961G> T (p.Glu321Ter)SNVPathogenicrs397516682GRCh37Chr X, 69255244: 69255244
53EDAREDAR, 18-BP DEL, IVS2deletionPathogenic
54EDARNM_ 022336.3(EDAR): c.266G> A (p.Arg89His)SNVPathogenicrs121908450GRCh37Chr 2, 109545744: 109545744
55EDAREDAR, DELdeletionPathogenic
56EDARNM_ 022336.3(EDAR): c.259T> C (p.Cys87Arg)SNVPathogenicrs121908451GRCh37Chr 2, 109545751: 109545751
57EDARNM_ 022336.3(EDAR): c.51+1G> ASNVPathogenicrs797044435GRCh37Chr 2, 109547419: 109547419
58EDARNM_ 022336.3(EDAR): c.1124G> A (p.Arg375His)SNVPathogenicrs121908454GRCh37Chr 2, 109513586: 109513586
59EDARNM_ 022336.3(EDAR): c.329A> C (p.Asp110Ala)SNVPathogenicrs121908455GRCh37Chr 2, 109545681: 109545681
60EDARNM_ 022336.3(EDAR): c.719_ 722delAAGA (p.Lys240Argfs)deletionPathogenicrs797044436GRCh37Chr 2, 109527240: 109527243
61EDARNM_ 022336.3(EDAR): c.803+1G> ASNVPathogenicrs797044437GRCh38Chr 2, 108910459: 108910459
62EDARADDNM_ 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 60)
idSuper pathwaysScoreTop Affiliating Genes
19.9CHUK, IKBKG
29.9CHUK, IKBKG
39.9CHUK, IKBKG
4
Show member pathways
9.4CHUK, IKBKG, TRAF6
59.4CHUK, IKBKG, TRAF6
69.4CHUK, IKBKG, TRAF6
7
Show member pathways
9.4CHUK, IKBKG, TRAF6
8
Show member pathways
9.4CHUK, IKBKG, TRAF6
99.4CHUK, IKBKG, TRAF6
109.4CHUK, IKBKG, TRAF6
119.4CHUK, IKBKG, TNF
12
Show member pathways
9.4CHUK, IKBKG, TNF
139.4CHUK, IKBKG, TNF
149.4CHUK, IKBKG, TNF
15
Show member pathways
9.4CHUK, IKBKG, TNF
16
Show member pathways
9.3CHUK, FURIN, TRAF6
17
Show member pathways
9.1TAB2, TRAF6
18
Show member pathways
9.1CHUK, TNF, TRAF6
199.1IRAK4, TNF, TRAF6
20
Show member pathways
9.0CHUK, FURIN, IKBKG, TRAF6
219.0CHUK, IKBKG, TRAF6, WNT10A
22
Show member pathways
8.8CHUK, IKBKG, TNF, TRAF6
238.8CHUK, IKBKG, TNF, TRAF6
248.8CHUK, IKBKG, TNF, TRAF6
258.8CHUK, IKBKG, TNF, TRAF6
26
Show member pathways
8.8CHUK, IKBKG, TNF, TRAF6
27
Show member pathways
8.8CHUK, IKBKG, TNF, TRAF6
288.8CHUK, IKBKG, TNF, TRAF6
29
Show member pathways
8.8CHUK, IKBKG, TNF, TRAF6
30
Show member pathways
8.8EDA, EDA2R, EDAR, EDARADD, TNF
31
Show member pathways
8.5CHUK, IKBKG, TAB2, TRAF6
32
Show member pathways
8.5CHUK, IKBKG, TAB2, TRAF6
33
Show member pathways
8.5CHUK, IKBKG, TAB2, TRAF6
34
Show member pathways
8.5CHUK, IKBKG, TAB2, TRAF6
35
Show member pathways
8.5CHUK, IKBKG, TAB2, TRAF6
36
Show member pathways
8.5CHUK, IKBKG, TAB2, TRAF6
378.5CHUK, IKBKG, TAB2, TRAF6
388.5CHUK, IKBKG, TAB2, TNF
39
Show member pathways
8.5CHUK, IKBKG, TAB2, TNF
40
Show member pathways
8.5CHUK, IKBKG, TAB2, TNF
41
Show member pathways
8.5CHUK, IKBKG, IRAK4, TNF, TRAF6
428.3CHUK, IKBKG, MSX1, TNF, WNT10A
43
Show member pathways
8.2CHUK, IKBKG, IRAK4, TAB2, TRAF6
44
Show member pathways
8.2CHUK, IKBKG, IRAK4, TAB2, TRAF6
45
Show member pathways
8.0CHUK, IKBKG, TAB2, TNF, TRAF6
468.0CHUK, IKBKG, TAB2, TNF, TRAF6
47
Show member pathways
8.0CHUK, IKBKG, TAB2, TNF, TRAF6
48
Show member pathways
7.7CHUK, IKBKG, IRAK4, TAB2, TNF, TRAF6
49
Show member pathways
7.7CHUK, IKBKG, IRAK4, TAB2, TNF, TRAF6
507.7CHUK, 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:003563110.2CHUK, TRAF6
2IkappaB kinase complexGO:00083859.9CHUK, IKBKG
3endosome membraneGO:00100088.7FURIN, IRAK4, TAB2, TRAF6

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

(show all 34)
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
5interleukin-1-mediated signaling pathwayGO:007049810.4IRAK4, TRAF6
6positive regulation of NF-kappaB import into nucleusGO:004234610.2EDA, EDAR, TNF
7osteoclast differentiationGO:003031610.2TNF, TRAF6
8positive regulation of osteoclast differentiationGO:004567210.2TNF, TRAF6
9toll-like receptor 9 signaling pathwayGO:003416210.1IRAK4, TRAF6
10cellular response to nicotineGO:007131610.1MSX1, TNF
11positive regulation of JNK cascadeGO:004633010.1EDA2R, EDAR, TNF
12regulation of immunoglobulin secretionGO:005102310.1TNF, TRAF6
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
16positive regulation of gene expressionGO:00106289.8EDA, EDAR, TNF, WNT10A
17positive regulation of smooth muscle cell proliferationGO:00486619.8IRAK4, TNF, TRAF6
18animal organ morphogenesisGO:00098879.8PAX9, TNF, TRAF6
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
22immune responseGO:00069559.4CHUK, EDA, IKBKG, TNF, TRAF6
23Fc-epsilon receptor signaling pathwayGO:00380959.3CHUK, IKBKG, TAB2, TRAF6
24nucleotide-binding oligomerization domain containing signaling pathwayGO:00704239.3CHUK, IKBKG, TAB2, TRAF6
25stimulatory C-type lectin receptor signaling pathwayGO:00022239.2CHUK, IKBKG, TAB2, TRAF6
26T cell receptor signaling pathwayGO:00508529.1CHUK, IKBKG, TAB2, TRAF6
27activation of MAPK activityGO:00001879.1IKBKG, TAB2, TNF, TRAF6
28I-kappaB kinase/NF-kappaB signalingGO:00072498.8CHUK, IKBKG, TAB2, TNF, TRAF6
29JNK cascadeGO:00072548.7IKBKG, IRAK4, TAB2, TNF, TRAF6
30tumor necrosis factor-mediated signaling pathwayGO:00332098.5CHUK, EDA, EDA2R, EDAR, EDARADD, TNF
31positive regulation of transcription from RNA polymerase II promoterGO:00459448.4CHUK, IKBKG, MSX1, PAX9, TNF, TRAF6
32multicellular organism developmentGO:00072758.1EDA, EDA2R, EDAR, EDARADD, MSX1, PAX9
33positive regulation of NF-kappaB transcription factor activityGO:00510927.8CHUK, EDA, EDA2R, IKBKG, IRAK4, TAB2
34positive 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:00705309.8IKBKG, TAB2
2tumor necrosis factor receptor bindingGO:00051649.2EDA, TNF, TRAF6

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