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, Autosomal...

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

Name: Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 54 66 13 69
Hypohidrotic Ectodermal Dysplasia 12 23 50 24 25 56 14
Christ-Siemens-Touraine Syndrome 12 23 50 24 25 69
Anhidrotic Ectodermal Dysplasia 23 50 24 25 56
Hed 50 25 56 66
Ectodermal Dysplasia, Hypohidrotic 50 29 52
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 42 69
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive 66 29
Hypohidrotic Ectodermal Dysplasia, X-Linked 24 29
Ectodermal Dysplasia Anhidrotic 50 66
Cst Syndrome 50 25
Eda 50 66
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 69
Hypohidrotic X-Linked Ectodermal Dysplasia 12
X-Linked Hypohidrotic Ectodermal Dysplasia 50
Hypohidrotic Ectodermal Dysplasia X-Linked 50
Anhidrotic Ectodermal Dysplasia, X-Linked 24
Anhidrotic Ectodermal Dysplasia X-Linked 50
Ectodermal Dysplasia 1, Anhydrotic 12
Ectodermal Dysplasia 1, Anhidrotic 42
Ectodermal Dysplasia 3, Anhidrotic 69
Anhidrotic Ectodermal Dysplasia 3 12
Ectodermal Dysplasia 1 50
Ectd10b 66
Xlaed 24
Xlhed 24
Xhed 50

Characteristics:

Orphanet epidemiological data:

56
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:

32
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 224900
Disease Ontology 12 DOID:14793
NCIt 47 C84562
Orphanet 56 ORPHA238468
ICD10 via Orphanet 34 Q82.4
MedGen 40 C0406702
UMLS 69 C0162359

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

OMIM : 54 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 dry skin, frontal bossing and failure to thrive. An important gene associated with Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive is EDAR (Ectodysplasin A Receptor), and among its related pathways/superpathways are Innate Immune System and Akt Signaling. The drugs Anesthetics and Anesthetics, Local have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and breast, and related phenotypes are Downregulation of NF-kappaB pathway after TNFalpha stimulation and growth/size/body region

Disease Ontology : 12 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 : 50 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 : 66 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: NBK1112

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

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)
id Related Disease Score Top Affiliating Genes
1 ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 33.6 CHUK IKBKG TRAF6
2 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 31.8 EDAR EDARADD
3 ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency 12.4
4 hypohidrotic ectodermal dysplasia with immunodeficiency 12.1
5 hypohidrotic ectodermal dysplasia autosomal recessive 12.1
6 hypohidrotic ectodermal dysplasia, autosomal 12.1
7 immunodeficiency, isolated 11.9
8 ectodermal dysplasia, hypohidrotic, with immune deficiency 11.8
9 rapp-hodgkin syndrome 11.8
10 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 11.8
11 agammaglobulinemia, x-linked 1 11.8
12 ectodermal dysplasia 1, hypohidrotic, x-linked 11.8
13 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 11.8
14 agammaglobulinemia and isolated hormone deficiency 11.4
15 immunodeficiency 33 11.2
16 ectodermal dysplasia 11.2
17 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 11.1
18 viljoen winship syndrome 11.0
19 gnas hyperfunction 10.9
20 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.8
21 agammaglobulinemia 1 10.8
22 anodontia 10.5
23 agammaglobulinemia 10.4
24 prostate cancer 10.2 EDAR EDARADD
25 hypothyroidism 10.2
26 neonatal respiratory failure 10.1 EDA EDAR EDARADD
27 insr-related hyperinsulinism 10.1 EDAR EDARADD WNT10A
28 cleft palate with ankyloglossia 10.1 EDA EDA2R EDARADD
29 osteopetrosis 10.1
30 incontinentia pigmenti 10.1
31 alopecia 10.1
32 hypoplastic thumbs hydranencephaly 10.1 EDAR EDARADD WNT10A
33 dementia, familial british 10.0 EDA EDAR EDARADD WNT10A
34 glioblastoma mesenchymal subtype 9.9 EDA2R WNT10A
35 end stage renal failure 9.9 CHUK EDA EDAR EDARADD IKBKG
36 lymphedema 9.9
37 rhabdomyosarcoma 9.9
38 rhinitis 9.9
39 nasopharyngitis 9.9
40 atrophic rhinitis 9.9
41 myiasis 9.9
42 anhidrosis 9.9
43 neuroblastoma 9.9
44 panuveitis 9.9
45 dysphagia 9.9
46 encephalopathy 9.9
47 lelis syndrome 9.9
48 sudden infant death syndrome 9.9
49 ectropion 9.9
50 taurodontism 9.9

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, Autosomal...

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:

56 32 (show top 50) (show all 52)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dry skin 56 32 Very frequent (99-80%) HP:0000958
2 frontal bossing 56 32 Frequent (79-30%) HP:0002007
3 failure to thrive 56 32 Occasional (29-5%) HP:0001508
4 abnormal facial shape 56 32 Very frequent (99-80%) HP:0001999
5 thick vermilion border 56 32 Very frequent (99-80%) HP:0012471
6 anteverted nares 56 32 Frequent (79-30%) HP:0000463
7 cognitive impairment 56 32 Occasional (29-5%) HP:0100543
8 abnormality of the nail 56 32 Occasional (29-5%) HP:0001597
9 hyperkeratosis 56 32 Frequent (79-30%) HP:0000962
10 sinusitis 56 32 Frequent (79-30%) HP:0000246
11 thin skin 56 32 Very frequent (99-80%) HP:0000963
12 hypohidrosis 56 32 Frequent (79-30%) HP:0000966
13 nephrotic syndrome 56 32 Frequent (79-30%) HP:0000100
14 abnormal hair quantity 56 32 Occasional (29-5%) HP:0011362
15 keratoconjunctivitis sicca 56 32 Very frequent (99-80%) HP:0001097
16 hypoplasia of the maxilla 56 32 Very frequent (99-80%) HP:0000327
17 xerostomia 56 32 Frequent (79-30%) HP:0000217
18 irregular hyperpigmentation 56 32 Very frequent (99-80%) HP:0007400
19 reduced number of teeth 56 32 Very frequent (99-80%) HP:0009804
20 cough 56 32 Frequent (79-30%) HP:0012735
21 eczema 56 32 Frequent (79-30%) HP:0000964
22 abnormality of dental morphology 56 32 Very frequent (99-80%) HP:0006482
23 aplasia/hypoplasia of the eyebrow 56 32 Frequent (79-30%) HP:0100840
24 generalized hypopigmentation of hair 56 32 Frequent (79-30%) HP:0011358
25 slow-growing hair 56 32 Frequent (79-30%) HP:0002217
26 trichorrhexis nodosa 56 32 Frequent (79-30%) HP:0009886
27 breast aplasia 56 32 Occasional (29-5%) HP:0100783
28 abnormality of the abdominal wall 56 32 Frequent (79-30%) HP:0004298
29 hypertension 32 HP:0000822
30 depressed nasal bridge 32 HP:0005280
31 abnormality of the teeth 56 Very frequent (99-80%)
32 type i diabetes mellitus 32 HP:0100651
33 delayed eruption of teeth 32 HP:0000684
34 everted lower lip vermilion 32 HP:0000232
35 microdontia 32 HP:0000691
36 abnormality of immune system physiology 56 Very frequent (99-80%)
37 anterior hypopituitarism 32 HP:0000830
38 depressed nasal ridge 32 HP:0000457
39 hypotrichosis 32 HP:0001006
40 hypodontia 32 HP:0000668
41 inflammatory abnormality of the eye 56 Frequent (79-30%)
42 sparse body hair 32 HP:0002231
43 short distal phalanx of finger 32 HP:0009882
44 everted upper lip vermilion 32 HP:0010803
45 anhidrosis 32 HP:0000970
46 sparse eyelashes 32 HP:0000653
47 periorbital wrinkles 32 HP:0000607
48 anodontia 32 HP:0000674
49 heat intolerance 32 HP:0002046
50 sparse and thin eyebrow 32 HP:0000535

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Downregulation of NF-kappaB pathway after TNFalpha stimulation GR00199-A-2 8.8 CHUK IKBKG TRAF6

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

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.16 CHUK EDAR EDARADD FURIN IKBKG MSX1
2 cardiovascular system MP:0005385 10.13 IKBKG MSX1 TAB2 TNF TRAF6 CHUK
3 craniofacial MP:0005382 10.11 TRAF6 WNT10A CHUK EDAR EDARADD MSX1
4 integument MP:0010771 10.1 CHUK EDAR EDARADD FURIN IKBKG MSX1
5 hematopoietic system MP:0005397 10.09 CHUK EDARADD FURIN IKBKG IRAK4 PAX9
6 endocrine/exocrine gland MP:0005379 10.08 CHUK EDAR EDARADD IKBKG MSX1 PAX9
7 digestive/alimentary MP:0005381 10.04 CHUK EDAR FURIN IKBKG MSX1 PAX9
8 limbs/digits/tail MP:0005371 9.97 CHUK EDAR EDARADD FURIN MSX1 PAX9
9 mortality/aging MP:0010768 9.96 CHUK EDAR EDARADD FURIN IKBKG MSX1
10 liver/biliary system MP:0005370 9.87 CHUK FURIN IKBKG MSX1 TAB2 TNF
11 pigmentation MP:0001186 9.55 EDAR EDARADD IKBKG TRAF6 WNT10A
12 reproductive system MP:0005389 9.5 CHUK EDAR EDARADD IKBKG PAX9 TNF
13 skeleton MP:0005390 9.17 CHUK EDARADD MSX1 PAX9 TNF TRAF6

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

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics
2 Anesthetics, Local

Interventional clinical trials:

(show all 18)
id Name Status NCT ID Phase
1 Phase 2 Study to Evaluate Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200 in Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Completed NCT01775462 Phase 2
2 A Phase 1, Open-label, Multicenter, Safety and Pharmacokinetic Study of EDI200 Completed NCT01564225 Phase 1
3 Sonography in Hypotension and Cardiac Arrest in the Emergency Department. Unknown status NCT01419106
4 Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation Completed NCT01386775
5 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - A Completed NCT01293565
6 Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype Completed NCT01398397
7 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012) Completed NCT01629927
8 Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia: Evaluation of an Early Diagnosis Technology and Tests to Assess Nutritional Status Completed NCT01629940
9 Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia Completed NCT01109290
10 Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia Completed NCT01308333
11 Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia Completed NCT01135888
12 X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction Survey Completed NCT01398813
13 Phenotypic Properties in Individuals Affected With XLHED Completed NCT01871714
14 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia Completed NCT01108770
15 Sweat Duct Imaging in Mother/Newborn Dyads Completed NCT01342133
16 EDICT - Exercise inDuced Changes In Colorectal Cancer Tissues Recruiting NCT02056691
17 Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia Active, not recruiting NCT02099552
18 Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 Active, not recruiting NCT01992289

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

Cochrane evidence based reviews: ectodermal dysplasia 1, anhidrotic

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

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

id Genetic test Affiliating Genes
1 Hypohidrotic X-Linked Ectodermal Dysplasia 29
2 Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome 29
3 Hypohidrotic Ectodermal Dysplasia 29 24 EDARADD EDAR
4 Hypohidrotic Ectodermal Dysplasia, X-Linked 24 EDA

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

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

39
Skin, Eye, Breast

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

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

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

66 (show all 17)
id Symbol AA change Variation ID SNP ID
1 EDAR p.Cys87Arg VAR_013448 rs121908451
2 EDAR p.Arg89His VAR_013449 rs121908450
3 EDAR p.Arg420Gln VAR_013450 rs121908453
4 EDAR p.Cys47Tyr VAR_054444 rs778903951
5 EDAR p.Asp110Ala VAR_054445 rs121908455
6 EDAR p.Cys148Arg VAR_054446
7 EDAR p.Arg375His VAR_054447 rs121908454
8 EDAR p.Leu377Phe VAR_054448
9 EDAR p.Gly382Ser VAR_054449 rs747806672
10 EDAR p.Thr403Met VAR_054450
11 EDAR p.Thr413Pro VAR_054451
12 EDAR p.Ile418Thr VAR_054452
13 EDAR p.Trp434Cys VAR_054453 rs528478080
14 EDAR p.Arg98Gln VAR_064830 rs144473052
15 EDAR p.Arg358Gln VAR_064831
16 EDAR p.Ile408Phe VAR_064833
17 EDAR p.Trp434Arg VAR_064834 rs773885029

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

6 (show top 50) (show all 76)
id Gene Variation Type Significance SNP ID Assembly Location
1 EDARADD NM_080738.3(EDARADD): c.424G> A (p.Glu142Lys) single nucleotide variant Pathogenic rs74315309 GRCh37 Chromosome 1, 236645755: 236645755
2 EDAR EDAR, 18-BP DEL, IVS2 deletion Pathogenic
3 EDAR NM_022336.3(EDAR): c.266G> A (p.Arg89His) single nucleotide variant Pathogenic rs121908450 GRCh37 Chromosome 2, 109545744: 109545744
4 EDAR EDAR, DEL deletion Pathogenic
5 EDAR NM_022336.3(EDAR): c.259T> C (p.Cys87Arg) single nucleotide variant Pathogenic rs121908451 GRCh37 Chromosome 2, 109545751: 109545751
6 EDAR NM_022336.3(EDAR): c.51+1G> A single nucleotide variant Pathogenic rs797044435 GRCh37 Chromosome 2, 109547419: 109547419
7 EDAR NM_022336.3(EDAR): c.1124G> A (p.Arg375His) single nucleotide variant Pathogenic rs121908454 GRCh37 Chromosome 2, 109513586: 109513586
8 EDAR NM_022336.3(EDAR): c.329A> C (p.Asp110Ala) single nucleotide variant Pathogenic rs121908455 GRCh37 Chromosome 2, 109545681: 109545681
9 EDAR NM_022336.3(EDAR): c.719_722delAAGA (p.Lys240Argfs) deletion Pathogenic rs797044436 GRCh37 Chromosome 2, 109527240: 109527243
10 EDAR NM_022336.3(EDAR): c.803+1G> A single nucleotide variant Pathogenic rs797044437 GRCh38 Chromosome 2, 108910459: 108910459
11 EDA NM_001399.4(EDA): c.181T> C (p.Tyr61His) single nucleotide variant Pathogenic rs132630308 GRCh37 Chromosome X, 68836333: 68836333
12 EDA NM_001399.4(EDA): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs132630310 GRCh37 Chromosome X, 68836219: 68836219
13 EDA NM_001399.4(EDA): c.187G> A (p.Glu63Lys) single nucleotide variant Pathogenic rs132630311 GRCh37 Chromosome X, 68836339: 68836339
14 EDA NM_001399.4(EDA): c.463C> T (p.Arg155Cys) single nucleotide variant Pathogenic rs132630312 GRCh37 Chromosome X, 69176943: 69176943
15 EDA NM_001399.4(EDA): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs132630313 GRCh37 Chromosome X, 69176946: 69176946
16 EDA NM_001399.4(EDA): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic rs132630314 GRCh37 Chromosome X, 69176947: 69176947
17 EDA NM_001399.4(EDA): c.671G> C (p.Gly224Ala) single nucleotide variant Pathogenic rs132630316 GRCh37 Chromosome X, 69247851: 69247851
18 EDA NM_001399.4(EDA): c.1045G> A (p.Ala349Thr) single nucleotide variant Pathogenic rs132630317 GRCh37 Chromosome X, 69255328: 69255328
19 EDA NM_001399.4(EDA): c.183C> G (p.Tyr61Ter) single nucleotide variant Pathogenic rs132630318 GRCh37 Chromosome X, 68836335: 68836335
20 EDA EDA, 36-BP DEL, EX5 deletion Pathogenic
21 EDA EDA, 1-BP DEL, EX6 deletion Pathogenic
22 EDA EDA, 1-BP INS, 573T insertion Pathogenic
23 EDA EDA, 2-BP INS, 913TA insertion Pathogenic
24 EDA NM_001399.4(EDA): c.826C> T (p.Arg276Cys) single nucleotide variant Pathogenic rs387907197 GRCh37 Chromosome X, 69253280: 69253280
25 EDA NM_001399.4(EDA): c.272dupG (p.Ser91Argfs) duplication Pathogenic rs397516656 GRCh37 Chromosome X, 68836424: 68836424
26 EDA NM_001399.4(EDA): c.164T> A (p.Leu55Gln) single nucleotide variant Likely pathogenic rs397516657 GRCh37 Chromosome X, 68836316: 68836316
27 EDA NM_001399.4(EDA): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs397516659 GRCh37 Chromosome X, 68836154: 68836154
28 EDA NM_001399.4(EDA): c.329C> A (p.Ser110Ter) single nucleotide variant Pathogenic rs397516660 GRCh37 Chromosome X, 68836481: 68836481
29 EDA NM_001399.4(EDA): c.347T> A (p.Leu116Ter) single nucleotide variant Pathogenic rs397516661 GRCh37 Chromosome X, 68836499: 68836499
30 EDA NM_001399.4(EDA): c.457C> T (p.Arg153Cys) single nucleotide variant Pathogenic rs397516662 GRCh37 Chromosome X, 69176937: 69176937
31 EDA NM_001399.4(EDA): c.467G> T (p.Arg156Leu) single nucleotide variant Pathogenic rs132630314 GRCh37 Chromosome X, 69176947: 69176947
32 EDA NM_001399.4(EDA): c.526+5G> T single nucleotide variant Likely pathogenic rs397516664 GRCh37 Chromosome X, 69243096: 69243096
33 EDA NM_001399.4(EDA): c.546_581del36 (p.Asn185_Pro196del) deletion Pathogenic rs397516665 GRCh37 Chromosome X, 69247726: 69247761
34 EDA NM_001399.4(EDA): c.553_588del36 (p.Asn185_Pro196del) deletion Pathogenic rs397516666 GRCh37 Chromosome X, 69247733: 69247768
35 EDA NM_001399.4(EDA): c.562_589del28 (p.Pro188Argfs) deletion Pathogenic rs397516667 GRCh37 Chromosome X, 69247742: 69247769
36 EDA NM_001399.4(EDA): c.572_589del18 (p.Pro191_Pro196del) deletion Pathogenic rs397516668 GRCh37 Chromosome X, 69247752: 69247769
37 EDA NM_001399.4(EDA): c.663_697del35 (p.Pro222Thrfs) deletion Pathogenic rs397516670 GRCh37 Chromosome X, 69247843: 69247877
38 EDA NM_001399.4(EDA): c.607C> T (p.Pro203Ser) single nucleotide variant Likely pathogenic rs397516671 GRCh37 Chromosome X, 69247787: 69247787
39 EDA NM_001399.4(EDA): c.730C> T (p.Arg244Ter) single nucleotide variant Pathogenic rs397516672 GRCh37 Chromosome X, 69249377: 69249377
40 EDA NM_001399.4(EDA): c.822G> T (p.Trp274Cys) single nucleotide variant Likely pathogenic rs397516675 GRCh37 Chromosome X, 69253276: 69253276
41 EDA NM_001399.4(EDA): c.822delG (p.Trp274Cysfs) deletion Pathogenic rs397516676 GRCh37 Chromosome X, 69253276: 69253276
42 EDA NM_001399.4(EDA): c.871G> A (p.Gly291Arg) single nucleotide variant Pathogenic rs397516677 GRCh37 Chromosome X, 69253325: 69253325
43 EDA NM_001399.4(EDA): c.895G> A (p.Gly299Ser) single nucleotide variant Likely pathogenic rs397516679 GRCh37 Chromosome X, 69253349: 69253349
44 EDA NM_001399.4(EDA): c.902A> G (p.Tyr301Cys) single nucleotide variant Likely pathogenic rs397516681 GRCh37 Chromosome X, 69253356: 69253356
45 EDA NM_001399.4(EDA): c.961G> T (p.Glu321Ter) single nucleotide variant Pathogenic rs397516682 GRCh37 Chromosome X, 69255244: 69255244
46 EDARADD NM_145861.2(EDARADD): c.402_407delAACGGT (p.Thr135_Val136del) deletion Pathogenic rs397515575 GRCh37 Chromosome 1, 236645703: 236645708
47 EDAR NC_000002.12: g.(?_108896907)_(108906334_?)del deletion Pathogenic GRCh37 Chromosome 2, 109513363: 109522790
48 EDA NM_001399.4(EDA): c.(?_397)-340_(496_?)dup duplication Likely pathogenic GRCh37 Chromosome X, 69176537: 69176976
49 EDA NM_001399.4(EDA): c.(?_397)_(502_?)del (p.(?)) deletion Pathogenic GRCh37 Chromosome X, 69176877: 69176982
50 EDA NM_001399.4(EDA): c.(?_707)_(741_?)del (p.(?)) deletion Pathogenic GRCh38 Chromosome X, 70029504: 70029538

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

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

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

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

(show top 50) (show all 60)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.97 CHUK EDA EDA2R EDAR EDARADD IKBKG
2
Show member pathways
13.34 CHUK IKBKG IRAK4 TAB2 TNF TRAF6
3
Show member pathways
12.97 CHUK EDA EDA2R EDAR EDARADD IKBKG
4
Show member pathways
12.95 CHUK IKBKG IRAK4 TAB2 TNF TRAF6
5
Show member pathways
12.88 CHUK IKBKG IRAK4 TAB2 TNF TRAF6
6
Show member pathways
12.81 CHUK IKBKG TAB2 TNF
7
Show member pathways
12.73 CHUK FURIN IKBKG IRAK4 TAB2 TNF
8 12.67 CHUK IKBKG TAB2 TNF TRAF6
9
Show member pathways
12.66 CHUK IKBKG TNF TRAF6
10
Show member pathways
12.66 CHUK IKBKG IRAK4 TNF TRAF6
11 12.6 CHUK IKBKG TRAF6 WNT10A
12
Show member pathways
12.6 CHUK IKBKG TNF TRAF6
13 12.5 CHUK IKBKG IRAK4 TAB2 TNF TRAF6
14
Show member pathways
12.42 CHUK IKBKG IRAK4 TAB2 TRAF6
15
Show member pathways
12.41 CHUK IKBKG TAB2 TRAF6
16
Show member pathways
12.4 CHUK IKBKG TAB2 TRAF6
17
Show member pathways
12.4 CHUK IKBKG TNF TRAF6
18 12.4 CHUK IKBKG MSX1 TNF WNT10A
19
Show member pathways
12.35 CHUK IKBKG TAB2 TRAF6
20
Show member pathways
12.32 CHUK IKBKG TAB2 TRAF6
21
Show member pathways
12.31 CHUK IKBKG TAB2 TNF TRAF6
22
Show member pathways
12.3 CHUK IKBKG TAB2 TNF
23
Show member pathways
12.28 CHUK IKBKG IRAK4 TAB2 TRAF6
24 12.27 CHUK IKBKG TAB2 TRAF6
25
Show member pathways
12.23 CHUK IKBKG TAB2 TRAF6
26
Show member pathways
12.16 CHUK IKBKG IRAK4 TAB2 TNF TRAF6
27
Show member pathways
12.13 CHUK FURIN TRAF6
28
Show member pathways
12.12 CHUK IKBKG IRAK4 TAB2 TNF TRAF6
29
Show member pathways
12.1 CHUK IKBKG TNF
30
Show member pathways
12.09 CHUK IKBKG IRAK4 TAB2 TNF TRAF6
31
Show member pathways
12.08 CHUK IKBKG TRAF6
32 12.05 CHUK IKBKG TRAF6
33 12.05 CHUK IKBKG TNF TRAF6
34 12.03 CHUK IKBKG TNF
35 12.02 CHUK IKBKG TAB2 TNF TRAF6
36
Show member pathways
11.98 CHUK IKBKG TAB2 TRAF6
37
Show member pathways
11.95 CHUK IKBKG IRAK4 TAB2 TNF TRAF6
38 11.94 CHUK IKBKG TAB2 TNF
39
Show member pathways
11.91 CHUK IKBKG TRAF6
40
Show member pathways
11.84 CHUK IKBKG TRAF6
41
Show member pathways
11.81 CHUK EDA EDA2R EDAR IKBKG IRAK4
42 11.8 CHUK IKBKG TRAF6
43
Show member pathways
11.8 EDA EDA2R EDAR EDARADD TNF
44 11.74 IRAK4 TNF TRAF6
45
Show member pathways
11.73 CHUK IKBKG TNF TRAF6
46 11.69 CHUK IKBKG TNF
47
Show member pathways
11.68 CHUK FURIN IKBKG TRAF6
48
Show member pathways
11.64 CHUK TNF TRAF6
49 11.57 CHUK IKBKG TNF TRAF6
50
Show member pathways
11.53 CHUK IKBKG TNF

GO Terms for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal...

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

id Name GO ID Score Top Affiliating Genes
1 IkappaB kinase complex GO:0008385 9.16 CHUK IKBKG
2 CD40 receptor complex GO:0035631 8.96 CHUK TRAF6
3 endosome membrane GO:0010008 8.92 FURIN 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)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.94 EDA EDAR TNF WNT10A
2 Fc-epsilon receptor signaling pathway GO:0038095 9.87 CHUK IKBKG TAB2 TRAF6
3 T cell receptor signaling pathway GO:0050852 9.85 CHUK IKBKG TAB2 TRAF6
4 animal organ morphogenesis GO:0009887 9.82 PAX9 TNF TRAF6
5 response to virus GO:0009615 9.8 CHUK IKBKG TNF
6 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.8 CHUK IKBKG TAB2 TRAF6
7 positive regulation of JNK cascade GO:0046330 9.78 EDA2R EDAR TNF
8 activation of MAPK activity GO:0000187 9.78 IKBKG TAB2 TNF TRAF6
9 positive regulation of smooth muscle cell proliferation GO:0048661 9.77 IRAK4 TNF TRAF6
10 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.72 CHUK IKBKG TAB2 TNF TRAF6
11 odontogenesis GO:0042476 9.71 MSX1 PAX9 WNT10A
12 odontogenesis of dentin-containing tooth GO:0042475 9.71 EDA EDAR MSX1 TRAF6
13 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.7 IRAK4 TAB2 TRAF6
14 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.69 CHUK IKBKG TNF
15 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.67 CHUK IKBKG TAB2 TRAF6
16 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.66 CHUK IKBKG
17 stress-activated MAPK cascade GO:0051403 9.66 CHUK IKBKG
18 osteoclast differentiation GO:0030316 9.65 TNF TRAF6
19 positive regulation of osteoclast differentiation GO:0045672 9.65 TNF TRAF6
20 JNK cascade GO:0007254 9.65 IKBKG IRAK4 TAB2 TNF TRAF6
21 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.64 FURIN TNF
22 toll-like receptor 9 signaling pathway GO:0034162 9.63 IRAK4 TRAF6
23 positive regulation of NF-kappaB import into nucleus GO:0042346 9.63 EDA EDAR TNF
24 tumor necrosis factor-mediated signaling pathway GO:0033209 9.63 CHUK EDA EDA2R EDAR EDARADD TNF
25 interleukin-1-mediated signaling pathway GO:0070498 9.62 IRAK4 TRAF6
26 cellular response to nicotine GO:0071316 9.61 MSX1 TNF
27 salivary gland cavitation GO:0060662 9.58 EDA EDAR
28 regulation of immunoglobulin secretion GO:0051023 9.58 TNF TRAF6
29 regulation of odontogenesis GO:0042481 9.56 MSX1 PAX9
30 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.56 CHUK EDA EDA2R IKBKG IRAK4 TAB2
31 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.28 CHUK EDA EDA2R EDAR IKBKG IRAK4
32 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.09 CHUK IKBKG MSX1 PAX9 TNF TRAF6
33 multicellular organism development GO:0007275 10.03 EDA EDA2R EDAR EDARADD MSX1 PAX9
34 immune response GO:0006955 10 CHUK EDA IKBKG TNF TRAF6

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

id Name GO ID Score Top Affiliating Genes
1 K63-linked polyubiquitin binding GO:0070530 8.96 IKBKG TAB2
2 tumor necrosis factor receptor binding GO:0005164 8.8 EDA TNF TRAF6

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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