MCID: ECT062
MIFTS: 58

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

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Fetal diseases categories

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

About this section
Sources:
65UMLS, 49OMIM, 11diseasecard, 67UniProtKB/Swiss-Prot, 10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 22GeneTests, 47Novoseek, 24GTR, 36MeSH, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all 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
Christ-Siemens-Touraine Syndrome 10 21 45 22 23 51 65
Hypohidrotic Ectodermal Dysplasia 10 21 45 23 12 51
Ectodermal Dysplasia, Hypohidrotic 45 22 47 24
Anhidrotic Ectodermal Dysplasia 21 45 23 51
Hed 45 23 51 67
Hypohidrotic Ectodermal Dysplasia X-Linked 45 22 24
Ectodermal Dysplasia Anhidrotic 45 22 67
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 65 36
X-Linked Hypohidrotic Ectodermal Dysplasia 45 51
Anhidrotic Ectodermal Dysplasia X-Linked 45 22
Ectodermal Dysplasia 3, Anhidrotic 65 36
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 Hypohidrotic Autosomal Recessive 67
Hypohidrotic X-Linked Ectodermal Dysplasia 10
X-Linked Anhidrotic Ectodermal Dysplasia 51
Ectodermal Dysplasia 1, Anhydrotic 10
Ectodermal Dysplasia 1, Anhidrotic 36
Anhidrotic Ectodermal Dysplasia 3 10
Hypercholanemia, Familial 65
Ectodermal Dysplasia 1 45
Ectd10b 67
Xlaed 22
Xlhed 22


Classifications:



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


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

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 christ-siemens-touraine syndrome, is related to hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia 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 Cellular Transformation by HTLV1. Affiliated tissues include skin, eye and bone, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

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 x-hed

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 159)
idRelated DiseaseScoreTop Affiliating Genes
1hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia31.3EDAR, EDARADD, WNT10A
2ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant31.1EDAR, EDARADD, TRAF6
3ectodermal dysplasia, hypohidrotic, with immune deficiency31.1CHUK, IKBKG, PGK1
4ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant31.0EDAR, EDARADD
5anhidrosis30.7EDA, EDAR, EDARADD
6ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive30.7EDAR, EDARADD
7ectodermal dysplasia11.5
8ectodermal dysplasia 1, hypohidrotic, x-linked10.9
9skin conditions10.8
10skin disease10.8
11anodontia10.8
12x-linked disease10.8
13immunodeficiency, isolated10.8
14rapp-hodgkin syndrome10.7
15hair disease10.6
16hypohidrotic ectodermal dysplasia autosomal recessive10.6
17agammaglobulinemia, x-linked 110.6
18tooth agenesis10.6
19sweat gland disease10.6
20tooth disease10.6
21hypohidrotic ectodermal dysplasia, autosomal10.6
22hypohidrotic ectodermal dysplasia with immunodeficiency10.6
23ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency10.5
24familial mediterranean fever, ar10.5
25globe disease10.5
26hypothyroidism10.5
27tooth agenesis, selective, x-linked 110.5
28sudden infant death syndrome10.4
29fanconi anemia, complementation group c10.4
30hypotrichosis 110.4
31incontinentia pigmenti10.4
32immunodeficiency 3310.4
33child syndrome10.4
34osteopetrosis10.4
35keratoconjunctivitis sicca10.4
36facial dermatosis10.4
37scalp dermatosis10.4
38dry eye syndrome10.4
39hypotrichosis10.4
40kid syndrome10.4
41medulloblastoma10.3
42breasts and/or nipples, aplasia or hypoplasia of, 210.3
43marshall syndrome10.3
44odontoonychodermal dysplasia10.3
45ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency10.3
46dermatopathia pigmentosa reticularis10.3
47ectodermal dysplasia 3, witkop type10.3
48naegeli-franceschetti-jadassohn syndrome10.3
49nodular medulloblastoma10.3
50miliary tuberculosis10.3

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 43)
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 abnormality of immune system physiology hallmark (90%) HP:0010978
10 xerostomia typical (50%) HP:0000217
11 sinusitis typical (50%) HP:0000246
12 anteverted nares typical (50%) HP:0000463
13 hyperkeratosis typical (50%) HP:0000962
14 eczema typical (50%) HP:0000964
15 hypohidrosis typical (50%) HP:0000966
16 frontal bossing typical (50%) HP:0002007
17 slow-growing hair typical (50%) HP:0002217
18 depressed nasal bridge typical (50%) HP:0005280
19 hypopigmentation of hair typical (50%) HP:0005599
20 abnormality of hair texture typical (50%) HP:0010719
21 aplasia/hypoplasia of the eyebrow typical (50%) HP:0100840
22 abnormality of the nail occasional (7.5%) HP:0001597
23 abnormal hair quantity occasional (7.5%) HP:0011362
24 cognitive impairment occasional (7.5%) HP:0100543
25 breast aplasia occasional (7.5%) HP:0100783
26 autosomal recessive inheritance HP:0000007
27 everted lower lip vermilion HP:0000232
28 sparse eyebrow HP:0000535
29 periorbital wrinkles HP:0000607
30 sparse eyelashes HP:0000653
31 hypodontia HP:0000668
32 anodontia HP:0000674
33 microdontia HP:0000691
34 hypohidrosis HP:0000966
35 anhidrosis HP:0000970
36 hypotrichosis HP:0001006
37 periorbital hyperpigmentation HP:0001106
38 frontal bossing HP:0002007
39 heat intolerance HP:0002046
40 depressed nasal bridge HP:0005280
41 hypohidrotic ectodermal dysplasia HP:0007607
42 everted upper lip vermilion HP:0010803
43 thick vermilion border HP:0012471

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
15Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002RecruitingNCT01992289
16Sonography in Hypotension and Cardiac Arrest in the Emergency Department.RecruitingNCT01419106
17EDICT - Exercise inDuced Changes In Colorectal Cancer TissuesRecruitingNCT02056691
18Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal DysplasiaActive, not recruitingNCT02099552

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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 Ectodermal Dysplasia22 24 EDAR, EDARADD
2 Hypohidrotic Ectodermal Dysplasia, X-Linked22 EDA
3 Hypohidrotic X-Linked Ectodermal Dysplasia24

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

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 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.8EDA, EDAR, EDARADD, IKBKG, TRAF6
2MP:00053778.8CHUK, EDARADD, HR, MSX1, PAX9
3MP:00053828.4AXIN2, CHUK, EDA, EDAR, EDARADD, MSX1
4MP:00053718.4AXIN2, CHUK, EDA, EDAR, EDARADD, MSX1
5MP:00053818.1CHUK, EDA, EDAR, FURIN, HR, IKBKG
6MP:00053708.1CHUK, FURIN, HR, IKBKG, MSX1, TAB2
7MP:00028737.9AXIN2, BACE1, EDA2R, FURIN, IKBKG, NFKBIA
8MP:00053917.9AXIN2, CHUK, EDA, EDARADD, HR, MSX1
9MP:00053897.3AXIN2, CHUK, EDA, EDARADD, HR, IKBKG
10MP:00053797.0AXIN2, CHUK, EDA, EDAR, EDARADD, HR
11MP:00053786.7BACE1, CHUK, EDA, EDARADD, FURIN, HR
12MP:00107716.7BACE1, CHUK, EDA, EDAR, EDARADD, HR
13MP:00053876.6CHUK, EDA, FURIN, HR, IKBKG, IRAK4
14MP:00053976.5CHUK, EDARADD, FURIN, HR, IKBKG, IRAK4
15MP:00053846.4AXIN2, BACE1, CHUK, EDAR, HR, IKBKG
16MP:00107685.1AXIN2, BACE1, CHUK, EDA, EDAR, EDARADD

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 77)
id Gene Variation Type Significance SNP ID Assembly Location
1EDANM_001399.4(EDA): c.181T> C (p.Tyr61His)single nucleotide variantPathogenicrs132630308GRCh37Chr X, 68836333: 68836333
2EDANM_001399.4(EDA): c.206G> T (p.Arg69Leu)single nucleotide variantPathogenicrs132630309GRCh37Chr X, 68836358: 68836358
3EDANM_001399.4(EDA): c.67C> T (p.Gln23Ter)single nucleotide variantPathogenicrs132630310GRCh37Chr X, 68836219: 68836219
4EDANM_001399.4(EDA): c.187G> A (p.Glu63Lys)single nucleotide variantPathogenicrs132630311GRCh37Chr X, 68836339: 68836339
5EDANM_001399.4(EDA): c.463C> T (p.Arg155Cys)single nucleotide variantPathogenicrs132630312GRCh37Chr X, 69176943: 69176943
6EDANM_001399.4(EDA): c.466C> T (p.Arg156Cys)single nucleotide variantPathogenicrs132630313GRCh37Chr X, 69176946: 69176946
7EDANM_001399.4(EDA): c.467G> A (p.Arg156His)single nucleotide variantPathogenicrs132630314GRCh37Chr X, 69176947: 69176947
8EDANM_001399.4(EDA): c.626C> T (p.Pro209Leu)single nucleotide variantPathogenicrs132630315GRCh37Chr X, 69247806: 69247806
9EDANM_001399.4(EDA): c.671G> C (p.Gly224Ala)single nucleotide variantPathogenicrs132630316GRCh37Chr X, 69247851: 69247851
10EDANM_001399.4(EDA): c.1045G> A (p.Ala349Thr)single nucleotide variantPathogenicrs132630317GRCh37Chr X, 69255328: 69255328
11EDANM_001399.4(EDA): c.183C> G (p.Tyr61Ter)single nucleotide variantPathogenicrs132630318GRCh37Chr X, 68836335: 68836335
12EDAEDA, 36-BP DEL, EX5deletionPathogenic
13EDAEDA, 1-BP DEL, EX6deletionPathogenic
14EDAEDA, 1-BP INS, 573TinsertionPathogenic
15EDAEDA, 2-BP INS, 913TAinsertionPathogenic
16IKBKGNM_003639.4(IKBKG): c.1171G> T (p.Glu391Ter)single nucleotide variantPathogenicrs137853324GRCh37Chr X, 153792587: 153792587
17IKBKGNM_003639.4(IKBKG): c.1249T> C (p.Cys417Arg)single nucleotide variantPathogenicrs137853325GRCh37Chr X, 153792665: 153792665
18IKBKGIKBKG, 1-BP DUP, 1167CduplicationPathogenic
19IKBKGNM_003639.4(IKBKG): c.1250G> T (p.Cys417Phe)single nucleotide variantPathogenicrs137853326GRCh37Chr X, 153792666: 153792666
20IKBKGNM_003639.4(IKBKG): c.1217A> T (p.Asp406Val)single nucleotide variantPathogenicrs137853327GRCh37Chr X, 153792633: 153792633
21IKBKGIKBKG, 4.4-KB DUPduplicationPathogenic
22IKBKGNM_003639.4(IKBKG): c.458T> G (p.Leu153Arg)single nucleotide variantPathogenicrs137853328GRCh37Chr X, 153786805: 153786805
23IKBKGNM_003639.4(IKBKG): c.1207C> T (p.Gln403Ter)single nucleotide variantPathogenicrs137853329GRCh37Chr X, 153792623: 153792623
24IKBKGIKBKG, IVS6DS, G-A, +5single nucleotide variantPathogenic
25IKBKGIKBKG, 1-BP INS, 1409AinsertionPathogenic
26NFKBIANM_020529.2(NFKBIA): c.95G> T (p.Ser32Ile)single nucleotide variantPathogenicrs28933100GRCh37Chr 14, 35873756: 35873756
27NFKBIANM_020529.2(NFKBIA): c.32G> A (p.Trp11Ter)single nucleotide variantPathogenicrs121913664GRCh37Chr 14, 35873819: 35873819
28NFKBIANM_020529.2(NFKBIA): c.40G> T (p.Glu14Ter)single nucleotide variantPathogenicrs121913665GRCh37Chr 14, 35873811: 35873811
29EDANM_001399.4(EDA): c.(?_397-304)_(460_?)deldeletionPathogenicGRCh37Chr X, 69176573: 69176940
30EDANM_001399.4(EDA): c.(?_503)-88_(1176_?)deldeletionPathogenicGRCh37Chr X, 69242980: 69255459
31EDANM_001399.4(EDA): c.676C> T (p.Gln226Ter)single nucleotide variantPathogenicrs727503007GRCh38Chr X, 70028006: 70028006
32EDANM_001399.4(EDA): c.809delT (p.Val270Glyfs)deletionPathogenicrs727503008GRCh37Chr X, 69253263: 69253263
33EDANM_001399.4(EDA): c.822G> A (p.Trp274Ter)single nucleotide variantPathogenicrs397516675GRCh37Chr X, 69253276: 69253276
34EDANM_001399.4(EDA): c.948delC (p.Phe317Leufs)deletionPathogenicrs727503010GRCh37Chr X, 69255231: 69255231
35EDANM_001399.4(EDA): c.991C> T (p.Gln331Ter)single nucleotide variantPathogenicrs727503011GRCh37Chr X, 69255274: 69255274
36EDARNC_000002.12: g.(?_108896907)_(108906334_?)deldeletionPathogenicGRCh37Chr 2, 109513363: 109522790
37EDANM_001399.4(EDA): c.766C> T (p.Gln256Ter)single nucleotide variantPathogenicrs727504417GRCh37Chr X, 69250343: 69250343
38EDANM_001399.4(EDA): c.396+1G> Asingle nucleotide variantPathogenicrs727504537GRCh37Chr X, 68836549: 68836549
39EDANM_001399.4(EDA): c.474A> C (p.Lys158Asn)single nucleotide variantPathogenicrs727504649GRCh37Chr X, 69176954: 69176954
40EDANM_001399.4(EDA): c.(?_397)_(502_?)del (p.(?))deletionPathogenicGRCh37Chr X, 69176877: 69176982
41EDANM_001399.4(EDA): c.(?_925)_(1176_?)del (p.(?))deletionPathogenicGRCh37Chr X, 69255208: 69255459
42EDANM_001399.4(EDA): c.396+2T> Gsingle nucleotide variantPathogenicrs727504814GRCh37Chr X, 68836550: 68836550
43EDANM_001399.4(EDA): c.502+1G> Asingle nucleotide variantPathogenicrs727505013GRCh37Chr X, 69176983: 69176983
44EDANM_001399.4(EDA): c.132_135dupGGGT (p.Phe46Glyfs)duplicationPathogenicrs727505089GRCh37Chr X, 68836284: 68836287
45EDANM_001399.4(EDA): c.(?_-115)_(174_?)deldeletionPathogenicGRCh37Chr X, 68836038: 68836326
46EDANM_001399.4(EDA): c.396+2T> Csingle nucleotide variantPathogenicrs727504814GRCh37Chr X, 68836550: 68836550
47EDARNM_022336.3(EDAR): c.1144G> A (p.Gly382Ser)single nucleotide variantPathogenicrs747806672GRCh37Chr 2, 109513566: 109513566
48EDANM_001399.4(EDA): c.826C> T (p.Arg276Cys)single nucleotide variantPathogenicrs387907197GRCh37Chr X, 69253280: 69253280
49IKBKGNM_003639.4(IKBKG): c.265_267delGAG (p.Glu89del)deletionLikely pathogenicrs386134238GRCh37Chr X, 153784457: 153784459
50IKBKGNM_003639.4(IKBKG): c.470A> C (p.Gln157Pro)single nucleotide variantLikely pathogenicrs386134240GRCh37Chr X, 153786817: 153786817
51EDARADDNM_080738.3(EDARADD): c.424G> A (p.Glu142Lys)single nucleotide variantPathogenicrs74315309GRCh37Chr 1, 236645755: 236645755
52EDARADDNM_080738.3(EDARADD): c.335T> G (p.Leu112Arg)single nucleotide variantPathogenicrs121908116GRCh37Chr 1, 236645666: 236645666
53EDANM_001399.4(EDA): c.272dupG (p.Ser91Argfs)duplicationPathogenicrs397516656GRCh37Chr X, 68836424: 68836424
54EDANM_001399.4(EDA): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs397516659GRCh37Chr X, 68836154: 68836154
55EDANM_001399.4(EDA): c.329C> A (p.Ser110Ter)single nucleotide variantPathogenicrs397516660GRCh37Chr X, 68836481: 68836481
56EDANM_001399.4(EDA): c.347T> A (p.Leu116Ter)single nucleotide variantPathogenicrs397516661GRCh37Chr X, 68836499: 68836499
57EDANM_001399.4(EDA): c.457C> T (p.Arg153Cys)single nucleotide variantPathogenicrs397516662GRCh37Chr X, 69176937: 69176937
58EDANM_001399.4(EDA): c.546_581del36 (p.Asn185_Pro196del)deletionPathogenicrs397516665GRCh37Chr X, 69247726: 69247761
59EDANM_001399.4(EDA): c.553_588del36 (p.Asn185_Pro196del)deletionPathogenicrs397516666GRCh37Chr X, 69247733: 69247768
60EDANM_001399.4(EDA): c.562_589del28 (p.Pro188Argfs)deletionPathogenicrs397516667GRCh37Chr X, 69247742: 69247769
61EDANM_001399.4(EDA): c.572_589del18 (p.Pro191_Pro196del)deletionPathogenicrs397516668GRCh37Chr X, 69247752: 69247769
62EDANM_001399.4(EDA): c.663_697del35 (p.Pro222Thrfs)deletionPathogenicrs397516670GRCh37Chr X, 69247843: 69247877
63EDANM_001399.4(EDA): c.730C> T (p.Arg244Ter)single nucleotide variantPathogenicrs397516672GRCh37Chr X, 69249377: 69249377
64EDANM_001399.4(EDA): c.822delG (p.Trp274Cysfs)deletionPathogenicrs397516676GRCh37Chr X, 69253276: 69253276
65EDANM_001399.4(EDA): c.871G> A (p.Gly291Arg)single nucleotide variantPathogenicrs397516677GRCh37Chr X, 69253325: 69253325
66EDANM_001399.4(EDA): c.961G> T (p.Glu321Ter)single nucleotide variantPathogenicrs397516682GRCh37Chr X, 69255244: 69255244
67EDAREDAR, 18-BP DEL, IVS2deletionPathogenic
68EDARNM_022336.3(EDAR): c.266G> A (p.Arg89His)single nucleotide variantPathogenicrs121908450GRCh37Chr 2, 109545744: 109545744
69EDAREDAR, DELdeletionPathogenic
70EDARNM_022336.3(EDAR): c.259T> C (p.Cys87Arg)single nucleotide variantPathogenicrs121908451GRCh37Chr 2, 109545751: 109545751
71EDARNM_022336.3(EDAR): c.1259G> A (p.Arg420Gln)single nucleotide variantLikely pathogenic, Pathogenicrs121908453GRCh37Chr 2, 109513451: 109513451
72EDARNM_022336.3(EDAR): c.51+1G> Asingle nucleotide variantPathogenicrs797044435GRCh38Chr 2, 108930963: 108930963
73EDARNM_022336.3(EDAR): c.1124G> A (p.Arg375His)single nucleotide variantPathogenicrs121908454GRCh37Chr 2, 109513586: 109513586
74EDARNM_022336.3(EDAR): c.329A> C (p.Asp110Ala)single nucleotide variantPathogenicrs121908455GRCh37Chr 2, 109545681: 109545681
75EDARNM_022336.3(EDAR): c.719_722delAAGA (p.Lys240Argfs)deletionPathogenicrs797044436GRCh38Chr 2, 108910784: 108910787
76EDARNM_022336.3(EDAR): c.803+1G> Asingle nucleotide variantPathogenicrs797044437GRCh38Chr 2, 108910459: 108910459
77EDARADDNM_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 pathways (with members indented)ScoreTop Affiliating Genes
110.0CHUK, IKBKG
2
Show member pathways
9.8CHUK, IKBKG, NFKBIA
39.8CHUK, IKBKG, NFKBIA
49.8CHUK, IKBKG, NFKBIA
59.8CHUK, IKBKG, NFKBIA
6
Show member pathways
9.8CHUK, IKBKG, NFKBIA
79.7CHUK, FURIN, IKBKG
89.7CHUK, IRAK4, NFKBIA
99.7CHUK, IKBKG, TRAF6
10
Show member pathways
9.7CHUK, IKBKG, TRAF6
11
Show member pathways
9.7CHUK, IKBKG, TRAF6
129.7CHUK, IKBKG, TRAF6
13
Show member pathways
9.5CHUK, IKBKG, IRAK4, NFKBIA
149.4CHUK, IKBKG, NFKBIA, TRAF6
15
Apoptosis (WikiPathways)
Show member pathways
9.4CHUK, IKBKG, NFKBIA, TRAF6
169.4CHUK, IKBKG, NFKBIA, TRAF6
17
Show member pathways
9.4CHUK, IKBKG, NFKBIA, TRAF6
18
Show member pathways
9.4CHUK, IKBKG, NFKBIA, TRAF6
19
Show member pathways
9.4CHUK, IKBKG, NFKBIA, TRAF6
209.4CHUK, IKBKG, NFKBIA, TRAF6
21
Show member pathways
9.4CHUK, IKBKG, NFKBIA, TRAF6
229.4CHUK, IKBKG, NFKBIA, TRAF6
239.4CHUK, IKBKG, NFKBIA, TAB2
24
Show member pathways
9.4CHUK, FURIN, IKBKG, TRAF6
25
Show member pathways
9.4CHUK, FURIN, NFKBIA, TRAF6
26
Show member pathways
9.1CHUK, IKBKG, IRAK4, NFKBIA, TRAF6
27
Apoptosis (KEGG)
Show member pathways
9.1CHUK, IKBKG, IRAK4, NFKBIA, TRAF6
28
TNF Signaling (sino)
Show member pathways
9.1CHUK, IKBKG, IRAK4, NFKBIA, TRAF6
299.1CHUK, IKBKG, MSX1, NFKBIA, WNT10A
30
Show member pathways
9.1CHUK, IKBKG, NFKBIA, TAB2, TRAF6
31
TCR signaling (REACTOME)
Show member pathways
9.1CHUK, IKBKG, NFKBIA, TAB2, TRAF6
32
Show member pathways
9.1CHUK, IKBKG, NFKBIA, TAB2, TRAF6
339.1CHUK, IKBKG, NFKBIA, TAB2, TRAF6
349.1CHUK, IKBKG, NFKBIA, TAB2, TRAF6
359.1CHUK, IKBKG, NFKBIA, TAB2, TRAF6
36
Show member pathways
9.1CHUK, IKBKG, NFKBIA, TAB2, TRAF6
37
Show member pathways
9.1CHUK, IKBKG, NFKBIA, TAB2, TRAF6
38
Show member pathways
9.0CHUK, IKBKG, IRAK4, TAB2, TRAF6
398.9AXIN2, MSX1, PAX9, TAB2
40
Show member pathways
8.8CHUK, IKBKG, IRAK4, NFKBIA, TAB2, TRAF6
41
Show member pathways
8.8CHUK, IKBKG, IRAK4, NFKBIA, TAB2, TRAF6
42
Show member pathways
8.8CHUK, IKBKG, IRAK4, NFKBIA, TAB2, TRAF6
43
Show member pathways
8.8CHUK, IKBKG, IRAK4, NFKBIA, TAB2, TRAF6
448.8CHUK, IKBKG, IRAK4, NFKBIA, TAB2, TRAF6
45
Show member pathways
8.8CHUK, IKBKG, IRAK4, NFKBIA, TAB2, TRAF6
468.8CHUK, IKBKG, IRAK4, NFKBIA, TAB2, TRAF6
478.6AXIN2, CHUK, IKBKG, NFKBIA, TRAF6, WNT10A
48
Show member pathways
8.5CHUK, FURIN, IKBKG, IRAK4, NFKBIA, TAB2
49
Show member pathways
8.1CHUK, EDA, EDA2R, EDAR, IKBKG, IRAK4
50
Show member pathways
7.9CHUK, 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:000838510.4CHUK, IKBKG
2CD40 receptor complexGO:003563110.1CHUK, TRAF6
3endosome membraneGO:00100088.9BACE1, IRAK4, TAB2, TRAF6

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

(show all 35)
idNameGO IDScoreTop Affiliating Genes
1salivary gland cavitationGO:006066210.8EDA, EDAR
2trachea gland developmentGO:006115310.8EDA, EDARADD
3activation of NF-kappaB-inducing kinase activityGO:000725010.4IKBKG, TRAF6
4regulation of odontogenesisGO:004248110.4MSX1, PAX9
5positive regulation of type I interferon productionGO:003248110.2CHUK, IKBKG, NFKBIA
6hair follicle developmentGO:000194210.0EDA, EDAR, EDARADD, WNT10A
7I-kappaB kinase/NF-kappaB signalingGO:00072499.9CHUK, IKBKG, TAB2, TRAF6
8nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:00358729.9CHUK, IKBKG, TAB2, TRAF6
9nucleotide-binding oligomerization domain containing signaling pathwayGO:00704239.9CHUK, IKBKG, TAB2, TRAF6
10response to muscle stretchGO:00359949.7CHUK, NFKBIA
11activation of MAPK activityGO:00001879.7IKBKG, TAB2, TRAF6
12JNK cascadeGO:00072549.6IKBKG, IRAK4, TAB2, TRAF6
13stimulatory C-type lectin receptor signaling pathwayGO:00022239.6CHUK, IKBKG, NFKBIA, TAB2, TRAF6
14T cell receptor signaling pathwayGO:00508529.6CHUK, IKBKG, NFKBIA, TAB2, TRAF6
15odontogenesisGO:00424769.5AXIN2, MSX1, PAX9, WNT10A
16stress-activated MAPK cascadeGO:00514039.4CHUK, IKBKG, TAB2, TRAF6
17MyD88-independent toll-like receptor signaling pathwayGO:00027569.4CHUK, IKBKG, NFKBIA, TAB2, TRAF6
18toll-like receptor 3 signaling pathwayGO:00341389.4CHUK, IKBKG, NFKBIA, TAB2, TRAF6
19odontogenesis of dentin-containing toothGO:00424759.3CHUK, EDA, EDAR, EDARADD, MSX1, TRAF6
20TRIF-dependent toll-like receptor signaling pathwayGO:00356669.3CHUK, IKBKG, NFKBIA, TAB2, TRAF6
21positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.3CHUK, EDA, IKBKG, IRAK4, TAB2, TRAF6
22tumor necrosis factor-mediated signaling pathwayGO:00332099.3CHUK, EDA, EDA2R, EDAR, EDARADD, IKBKG
23Fc-epsilon receptor signaling pathwayGO:00380959.1CHUK, IKBKG, NFKBIA, TAB2, TRAF6
24toll-like receptor signaling pathwayGO:00022249.1CHUK, IKBKG, IRAK4, NFKBIA, TAB2, TRAF6
25positive regulation of NF-kappaB transcription factor activityGO:00510929.1CHUK, EDA, EDA2R, IKBKG, NFKBIA, TAB2
26MyD88-dependent toll-like receptor signaling pathwayGO:00027559.1CHUK, IKBKG, IRAK4, NFKBIA, TAB2, TRAF6
27toll-like receptor 2 signaling pathwayGO:00341349.1CHUK, IKBKG, IRAK4, NFKBIA, TAB2, TRAF6
28toll-like receptor 4 signaling pathwayGO:00341429.1CHUK, IKBKG, IRAK4, NFKBIA, TAB2, TRAF6
29toll-like receptor 5 signaling pathwayGO:00341469.1CHUK, IKBKG, IRAK4, NFKBIA, TAB2, TRAF6
30toll-like receptor 9 signaling pathwayGO:00341629.0CHUK, IKBKG, IRAK4, NFKBIA, TAB2, TRAF6
31toll-like receptor 10 signaling pathwayGO:00341669.0CHUK, IKBKG, IRAK4, NFKBIA, TAB2, TRAF6
32toll-like receptor TLR1:TLR2 signaling pathwayGO:00381239.0CHUK, IKBKG, IRAK4, NFKBIA, TAB2, TRAF6
33toll-like receptor TLR6:TLR2 signaling pathwayGO:00381249.0CHUK, IKBKG, IRAK4, NFKBIA, TAB2, TRAF6
34positive regulation of transcription from RNA polymerase II promoterGO:00459448.7CHUK, IKBKG, MSX1, NFKBIA, PAX9, TRAF6
35innate immune responseGO:00450878.7CHUK, IKBKG, IRAK4, NFKBIA, TAB2, TRAF6

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:007053010.6IKBKG, TAB2
2ubiquitin protein ligase bindingGO:00316259.7AXIN2, IKBKG, NFKBIA, TRAF6
3protein bindingGO:00055154.0AXIN2, BACE1, CHUK, EDA, EDA2R, EDAR

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

About this section
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