MCID: ECT062
MIFTS: 62

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

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Fetal diseases, Oral diseases

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

MalaCards integrated aliases for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

Name: Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 53 71 13 69
Hypohidrotic Ectodermal Dysplasia 12 72 23 49 24 55 28 14
Christ-Siemens-Touraine Syndrome 12 23 49 24 69
Hed 53 49 24 55 71
Anhidrotic Ectodermal Dysplasia 23 49 24 55
Ectodermal Dysplasia, Hypohidrotic 53 49 51
Eda 53 49 71
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 41 69
Hypohidrotic X-Linked Ectodermal Dysplasia 12 28
Ectodermal Dysplasia Anhidrotic 49 71
Cst Syndrome 49 24
Ectd10b 53 71
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 69
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome 28
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive 71
X-Linked Hypohidrotic Ectodermal Dysplasia 49
Hypohidrotic Ectodermal Dysplasia X-Linked 49
Anhidrotic Ectodermal Dysplasia X-Linked 49
Ectodermal Dysplasia, Hypohidrotic; Hed 53
Ectodermal Dysplasia, Anhidrotic; Eda 53
Ectodermal Dysplasia 1, Anhydrotic 12
Ectodermal Dysplasia 1, Anhidrotic 41
Ectodermal Dysplasia 3, Anhidrotic 69
Anhidrotic Ectodermal Dysplasia 3 12
Ectodermal Dysplasia, Anhidrotic 53
Ectodermal Dysplasia 1 49
Xhed 49

Characteristics:

Orphanet epidemiological data:

55
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;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (x-linked form )
allelic disorder to autosomal dominant form


HPO:

31
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



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

OMIM : 53 Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011). For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see 305100. (224900)

MalaCards based summary : Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive, also known as hypohidrotic ectodermal dysplasia, is related to ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant and ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive, 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 Cytokine Signaling in Immune system. Affiliated tissues include skin and eye, and related phenotypes are Downregulation of NF-kappaB pathway after TNFalpha stimulation and growth/size/body region

UniProtKB/Swiss-Prot : 71 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.

NIH Rare Diseases : 49 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

Genetics Home Reference : 24 Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands.

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).

Wikipedia : 72 Hypohidrotic ectodermal dysplasia (also known as \"anhidrotic ectodermal dysplasia\", and... more...

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 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive

Diseases related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 33.2 EDAR EDARADD
2 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 33.0 EDA EDAR EDARADD
3 ectodermal dysplasia 1, hypohidrotic, x-linked 31.6 EDA EDA2R
4 hypohidrotic ectodermal dysplasia autosomal recessive 31.4 EDAR EDARADD WNT10A
5 clouston syndrome 31.1 EDA EDAR EDARADD WNT10A
6 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 31.0 EDAR EDARADD KDF1 TRAF6
7 ectodermal dysplasia 30.4 EDA EDAR EDARADD IKBKG
8 immunodeficiency without anhidrotic ectodermal dysplasia 12.5
9 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema 12.5
10 deafness with anhidrotic ectodermal dysplasia 12.2
11 ectodermal dysplasia, hypohidrotic, with immune deficiency 11.8
12 ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant 11.2
13 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 10.9
14 hypermobile ehlers-danlos syndrome 10.8
15 hypohidrotic ectodermal dysplasia with immunodeficiency 10.8
16 hypohidrosis 10.2 EDA EDAR EDARADD
17 sweat gland disease 10.2 EDA EDAR EDARADD
18 incontinentia pigmenti 10.1 CHUK IKBKG
19 extratemporal epilepsy 9.8 EDAR WNT10A
20 pheochromocytoma 9.8
21 aging 9.8
22 osteopetrosis 9.8
23 streptococcal group a invasive disease 9.8
24 multiple endocrine neoplasia 9.8
25 hypotrichosis 9.8 EDA EDAR EDARADD WNT10A
26 tooth size 9.7 MSX1 PAX9
27 anodontia 9.6 EDA EDARADD MSX1 PAX9
28 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 9.0 EDAR EDARADD IKBKG MSX1 PAX9 WNT10A
29 tooth agenesis 8.8 EDA EDA2R EDAR EDARADD MSX1 PAX9

Graphical network of the top 20 diseases related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:



Diseases related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive

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

Symptoms via clinical synopsis from OMIM:

53
HeadAndNeckFace:
frontal bossing

SkinNailsHairSkin:
hypohidrosis
anhidrosis

MetabolicFeatures:
intolerance to heat and fever

HeadAndNeckEyes:
periorbital wrinkles
periorbital hyperpigmentation

HeadAndNeckTeeth:
microdontia
hypodontia
anodontia
misshapen teeth

SkinNailsHairHair:
hypotrichosis
sparse eyelashes and eyebrows

HeadAndNeckMouth:
prominent lips

HeadAndNeckNose:
depressed nasal bridge ('saddle nose')


Clinical features from OMIM:

224900

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

55 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dry skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000958
2 frontal bossing 55 31 frequent (33%) Frequent (79-30%) HP:0002007
3 failure to thrive 55 31 occasional (7.5%) Occasional (29-5%) HP:0001508
4 abnormal facial shape 55 31 hallmark (90%) Very frequent (99-80%) HP:0001999
5 thick vermilion border 55 31 hallmark (90%) Very frequent (99-80%) HP:0012471
6 anteverted nares 55 31 frequent (33%) Frequent (79-30%) HP:0000463
7 cognitive impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0100543
8 abnormality of the nail 55 31 occasional (7.5%) Occasional (29-5%) HP:0001597
9 hyperkeratosis 55 31 frequent (33%) Frequent (79-30%) HP:0000962
10 sinusitis 55 31 frequent (33%) Frequent (79-30%) HP:0000246
11 thin skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000963
12 hypohidrosis 55 31 hallmark (90%) Frequent (79-30%) HP:0000966
13 nephrotic syndrome 55 31 frequent (33%) Frequent (79-30%) HP:0000100
14 abnormal hair quantity 55 31 occasional (7.5%) Occasional (29-5%) HP:0011362
15 keratoconjunctivitis sicca 55 31 hallmark (90%) Very frequent (99-80%) HP:0001097
16 hypoplasia of the maxilla 55 31 hallmark (90%) Very frequent (99-80%) HP:0000327
17 xerostomia 55 31 frequent (33%) Frequent (79-30%) HP:0000217
18 irregular hyperpigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007400
19 reduced number of teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0009804
20 cough 55 31 frequent (33%) Frequent (79-30%) HP:0012735
21 eczema 55 31 frequent (33%) Frequent (79-30%) HP:0000964
22 abnormality of dental morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0006482
23 aplasia/hypoplasia of the eyebrow 55 31 hallmark (90%) Frequent (79-30%) HP:0100840
24 generalized hypopigmentation of hair 55 31 frequent (33%) Frequent (79-30%) HP:0011358
25 slow-growing hair 55 31 frequent (33%) Frequent (79-30%) HP:0002217
26 trichorrhexis nodosa 55 31 frequent (33%) Frequent (79-30%) HP:0009886
27 breast aplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0100783
28 abnormality of the abdominal wall 55 31 frequent (33%) Frequent (79-30%) HP:0004298
29 hypertension 31 occasional (7.5%) HP:0000822
30 depressed nasal bridge 31 HP:0005280
31 abnormality of the dentition 55 Very frequent (99-80%)
32 type i diabetes mellitus 31 occasional (7.5%) HP:0100651
33 delayed eruption of teeth 31 hallmark (90%) HP:0000684
34 everted lower lip vermilion 31 hallmark (90%) HP:0000232
35 microdontia 31 hallmark (90%) HP:0000691
36 abnormality of immune system physiology 55 Very frequent (99-80%)
37 anterior hypopituitarism 31 occasional (7.5%) HP:0000830
38 depressed nasal ridge 31 hallmark (90%) HP:0000457
39 hypotrichosis 31 hallmark (90%) HP:0001006
40 hypodontia 31 HP:0000668
41 inflammatory abnormality of the eye 55 Frequent (79-30%)
42 sparse body hair 31 hallmark (90%) HP:0002231
43 short distal phalanx of finger 31 occasional (7.5%) HP:0009882
44 everted upper lip vermilion 31 hallmark (90%) HP:0010803
45 anhidrosis 31 HP:0000970
46 sparse eyelashes 31 HP:0000653
47 heat intolerance 31 HP:0002046
48 anodontia 31 HP:0000674
49 periorbital wrinkles 31 HP:0000607
50 periorbital hyperpigmentation 31 HP:0001106

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


koilonychia, dry skin, dyspnea, spontaneous, recurrent epistaxis

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

25
# 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:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.16 CHUK EDAR EDARADD FURIN IKBKG KDF1
2 digestive/alimentary MP:0005381 10.15 EDAR FURIN IKBKG KDF1 MSX1 PAX9
3 craniofacial MP:0005382 10.11 CHUK EDAR EDARADD KDF1 MSX1 PAX9
4 integument MP:0010771 10.1 CHUK EDAR EDARADD FURIN IKBKG KDF1
5 endocrine/exocrine gland MP:0005379 10.08 TRAF6 WNT10A CHUK EDAR EDARADD IKBKG
6 limbs/digits/tail MP:0005371 10.02 CHUK EDAR EDARADD FURIN KDF1 MSX1
7 mortality/aging MP:0010768 9.96 CHUK EDAR EDARADD FURIN IKBKG KDF1
8 hearing/vestibular/ear MP:0005377 9.91 CHUK EDARADD KDF1 MSX1 PAX9 TRAF6
9 liver/biliary system MP:0005370 9.8 CHUK FURIN IKBKG MSX1 TAB2 TRAF6
10 reproductive system MP:0005389 9.5 CHUK EDAR EDARADD IKBKG KDF1 PAX9
11 pigmentation MP:0001186 9.46 EDAR EDARADD IKBKG TRAF6
12 skeleton MP:0005390 9.17 CHUK EDAR EDARADD MSX1 PAX9 TRAF6

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

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Hypohidrotic X-Linked Ectodermal Dysplasia 28 EDA
2 Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome 28 EDAR EDARADD
3 Hypohidrotic Ectodermal Dysplasia 28

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:

38
Skin, Eye

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

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

(show top 50) (show all 332)
# Title Authors Year
1
Two EDA Gene Mutations in Chinese Patients with Hypohidrotic Ectodermal Dysplasia. ( 29444360 )
2018
2
Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis. ( 28981473 )
2017
3
Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia. ( 28045201 )
2017
4
X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation. ( 28877528 )
2017
5
First report on an X-linked hypohidrotic ectodermal dysplasia family with X chromosome inversion: Breakpoint mapping reveals the pathogenic mechanism and preimplantation genetics diagnosis achieves an unaffected birth. ( 29037841 )
2017
6
Prosthetic rehabilitation in a pediatric patient with hypohidrotic ectodermal dysplasia: a case report. ( 28862593 )
2017
7
Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development. ( 28553001 )
2017
8
Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands. ( 28498389 )
2017
9
Delayed-onset heat intolerance in a Japanese patient with X-linked hypohidrotic ectodermal dysplasia associated with a large deletion involving four genes. ( 28444782 )
2017
10
A novel 1-bp deletion mutation and extremely skewed X-chromosome inactivation causing severe X-linked hypohidrotic ectodermal dysplasia in a Chinese girl. ( 28940425 )
2017
11
Anticipated stigma and blameless guilt: Mothers' evaluation of life with the sex-linked disorder, hypohidrotic ectodermal dysplasia (XHED). ( 27140840 )
2016
12
Hypohidrotic ectodermal dysplasia: A report of two cases. ( 27264909 )
2016
13
Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients. ( 27657131 )
2016
14
Acquired Dermal Melanocytosis Occurring in a Patient with Hypohidrotic Ectodermal Dysplasia. ( 27904288 )
2016
15
BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency. ( 27411570 )
2016
16
A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype. ( 27449516 )
2016
17
Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathology. ( 27378689 )
2016
18
Prosthetic Management of a Child with Hypohidrotic Ectodermal Dysplasia: 6-Year Follow-Up. ( 27822392 )
2016
19
Tissue expansion for correction of alopecia in a child with hypohidrotic ectodermal dysplasia. ( 27177435 )
2016
20
Erratum: Dental management of hypohidrotic ectodermal dysplasia: A report of two cases. ( 27041918 )
2016
21
Image Gallery: Periorbital and temporal dermal melanocytosis of hypohidrotic ectodermal dysplasia. ( 27996143 )
2016
22
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements. ( 27305980 )
2016
23
The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia. ( 27168349 )
2016
24
A novel EDARADD 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia. ( 26991760 )
2016
25
Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia. ( 26273176 )
2015
26
Novel missense mutation in the EDA1 gene identified in a family with hypohidrotic ectodermal dysplasia. ( 25626993 )
2015
27
Identification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia. ( 26634545 )
2015
28
Hypohidrotic ectodermal dysplasia. ( 25821743 )
2015
29
Molecular basis of hypohidrotic ectodermal dysplasia: an update. ( 26294279 )
2015
30
Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation. ( 25684924 )
2015
31
Perinatal Autopsy Findings in a Case of De Novo Hypohidrotic Ectodermal Dysplasia. ( 26417167 )
2015
32
A novel missense mutation in collagenous domain of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia. ( 25846883 )
2015
33
HYPOHIDROTIC ECTODERMAL DYSPLASIA. ( 27004366 )
2015
34
Dental Implant Therapy for a Child with X-linked Hypohidrotic Ectodermal Dysplasia--Three Decades of Managed Care. ( 26218015 )
2015
35
Dental management of hypohidrotic ectodermal dysplasia: A report of two cases. ( 26321846 )
2015
36
Hypohidrotic Ectodermal Dysplasia. ( 26843773 )
2015
37
A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia. ( 26440664 )
2015
38
Lower lid ectropion in hypohidrotic ectodermal dysplasia. ( 25802783 )
2015
39
EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature. ( 26345974 )
2015
40
Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation. ( 26411740 )
2015
41
Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia. ( 25333067 )
2014
42
Noninvasive Prenatal Diagnosis of Hypohidrotic Ectodermal Dysplasia by Tooth Germ Sonography. ( 25140498 )
2014
43
EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072Ca88>a88T mutation. ( 24884697 )
2014
44
A new EDA gene mutation in a family of X-linked hypohidrotic ectodermal dysplasia. ( 24503206 )
2014
45
Hypohidrotic ectodermal dysplasia in association with milia. ( 25201867 )
2014
46
False-Negative Sweat Chloride Testing in a Child With Cystic Fibrosis and Undiagnosed Hypohidrotic Ectodermal Dysplasia. ( 24419263 )
2014
47
A retrospective 3- to 5-year study of the reconstruction of oral function using implant-supported prostheses in patients with hypohidrotic ectodermal dysplasia. ( 25295888 )
2014
48
A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia. ( 24764207 )
2014
49
Cognitive profile of school-age children and teenagers with hypohidrotic ectodermal dysplasia (HED). ( 25159892 )
2014
50
One Mutation of the ED1 Gene in a Chinese Han Family with X-Linked Hypohidrotic Ectodermal Dysplasia. ( 24648697 )
2014

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:

71 (show all 17)
# 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 rs886039564
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 92)
# Gene Variation Type Significance SNP ID Assembly Location
1 EDA NM_001399.4(EDA): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs132630310 GRCh37 Chromosome X, 68836219: 68836219
2 EDA NM_001399.4(EDA): c.187G> A (p.Glu63Lys) single nucleotide variant Pathogenic rs132630311 GRCh37 Chromosome X, 68836339: 68836339
3 EDA NM_001399.4(EDA): c.463C> T (p.Arg155Cys) single nucleotide variant Pathogenic rs132630312 GRCh37 Chromosome X, 69176943: 69176943
4 EDA NM_001399.4(EDA): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs132630313 GRCh37 Chromosome X, 69176946: 69176946
5 EDA NM_001399.4(EDA): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic rs132630314 GRCh37 Chromosome X, 69176947: 69176947
6 EDA NM_001399.4(EDA): c.671G> C (p.Gly224Ala) single nucleotide variant Pathogenic rs132630316 GRCh37 Chromosome X, 69247851: 69247851
7 EDA NM_001399.4(EDA): c.1045G> A (p.Ala349Thr) single nucleotide variant Pathogenic rs132630317 GRCh37 Chromosome X, 69255328: 69255328
8 EDA NM_001399.4(EDA): c.183C> G (p.Tyr61Ter) single nucleotide variant Pathogenic rs132630318 GRCh37 Chromosome X, 68836335: 68836335
9 EDA EDA, 36-BP DEL, EX5 deletion Pathogenic
10 EDA EDA, 1-BP DEL, EX6 deletion Pathogenic
11 EDA EDA, 1-BP INS, 573T insertion Pathogenic
12 EDA EDA, 2-BP INS, 913TA insertion Pathogenic
13 EDA NM_001399.4(EDA): c.826C> T (p.Arg276Cys) single nucleotide variant Pathogenic rs387907197 GRCh37 Chromosome X, 69253280: 69253280
14 EDA NM_001399.4(EDA): c.1094T> C (p.Val365Ala) single nucleotide variant Pathogenic/Likely pathogenic rs397516654 GRCh37 Chromosome X, 69255377: 69255377
15 EDA NM_001399.4(EDA): c.272_273insG (p.Ser91Argfs) duplication Pathogenic rs397516656 GRCh37 Chromosome X, 68836424: 68836424
16 EDA NM_001399.4(EDA): c.164T> A (p.Leu55Gln) single nucleotide variant Likely pathogenic rs397516657 GRCh37 Chromosome X, 68836316: 68836316
17 EDA NM_001399.4(EDA): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs397516659 GRCh37 Chromosome X, 68836154: 68836154
18 EDA NM_001399.4(EDA): c.329C> A (p.Ser110Ter) single nucleotide variant Pathogenic rs397516660 GRCh37 Chromosome X, 68836481: 68836481
19 EDA NM_001399.4(EDA): c.347T> A (p.Leu116Ter) single nucleotide variant Pathogenic rs397516661 GRCh37 Chromosome X, 68836499: 68836499
20 EDA NM_001399.4(EDA): c.457C> T (p.Arg153Cys) single nucleotide variant Pathogenic rs397516662 GRCh37 Chromosome X, 69176937: 69176937
21 EDA NM_001399.4(EDA): c.467G> T (p.Arg156Leu) single nucleotide variant Pathogenic rs132630314 GRCh37 Chromosome X, 69176947: 69176947
22 EDA NM_001399.4(EDA): c.526+5G> T single nucleotide variant Likely pathogenic rs397516664 GRCh37 Chromosome X, 69243096: 69243096
23 EDA NM_001399.4(EDA): c.546_581del36 (p.Asn185_Pro196del) deletion Pathogenic rs397516665 GRCh37 Chromosome X, 69247726: 69247761
24 EDA NM_001399.4(EDA): c.553_588del36 (p.Asn185_Pro196del) deletion Pathogenic rs397516666 GRCh37 Chromosome X, 69247733: 69247768
25 EDA NM_001399.4(EDA): c.562_589del28 (p.Pro188Argfs) deletion Pathogenic rs397516667 GRCh37 Chromosome X, 69247742: 69247769
26 EDA NM_001399.4(EDA): c.572_589del18 (p.Pro191_Pro196del) deletion Pathogenic rs397516668 GRCh37 Chromosome X, 69247752: 69247769
27 EDA NM_001399.4(EDA): c.663_697del35 (p.Pro222Thrfs) deletion Pathogenic rs397516670 GRCh37 Chromosome X, 69247843: 69247877
28 EDA NM_001399.4(EDA): c.607C> T (p.Pro203Ser) single nucleotide variant Likely pathogenic rs397516671 GRCh37 Chromosome X, 69247787: 69247787
29 EDA NM_001399.4(EDA): c.730C> T (p.Arg244Ter) single nucleotide variant Pathogenic rs397516672 GRCh37 Chromosome X, 69249377: 69249377
30 EDA NM_001399.4(EDA): c.822G> T (p.Trp274Cys) single nucleotide variant Likely pathogenic rs397516675 GRCh37 Chromosome X, 69253276: 69253276
31 EDA NM_001399.4(EDA): c.822delG (p.Trp274Cysfs) deletion Pathogenic rs397516676 GRCh37 Chromosome X, 69253276: 69253276
32 EDA NM_001399.4(EDA): c.871G> A (p.Gly291Arg) single nucleotide variant Pathogenic rs397516677 GRCh37 Chromosome X, 69253325: 69253325
33 EDA NM_001399.4(EDA): c.895G> A (p.Gly299Ser) single nucleotide variant Likely pathogenic rs397516679 GRCh37 Chromosome X, 69253349: 69253349
34 EDA NM_001399.4(EDA): c.902A> G (p.Tyr301Cys) single nucleotide variant Likely pathogenic rs397516681 GRCh37 Chromosome X, 69253356: 69253356
35 EDA NM_001399.4(EDA): c.961G> T (p.Glu321Ter) single nucleotide variant Pathogenic rs397516682 GRCh37 Chromosome X, 69255244: 69255244
36 EDARADD NM_145861.2(EDARADD): c.402_407delAACGGT (p.Thr135_Val136del) deletion Pathogenic rs397515575 GRCh37 Chromosome 1, 236645703: 236645708
37 EDAR NC_000002.12: g.(?_108896907)_(108906334_?)del deletion Pathogenic GRCh37 Chromosome 2, 109513363: 109522790
38 EDA NM_001399.4(EDA): c.(?_397)-340_(496_?)dup duplication Likely pathogenic GRCh38 Chromosome X, 69956687: 69957126
39 EDA NM_001399.4(EDA): c.(?_397)_(502_?)del (p.(?)) deletion Pathogenic GRCh38 Chromosome X, 69957027: 69957132
40 EDA NM_001399.4(EDA): c.(?_707)_(741_?)del (p.(?)) deletion Pathogenic GRCh38 Chromosome X, 70029504: 70029538
41 EDA NM_001399.4(EDA): c.396+2T> G single nucleotide variant Pathogenic rs727504814 GRCh38 Chromosome X, 69616706: 69616706
42 EDA NM_001399.4(EDA): c.502+1G> A single nucleotide variant Pathogenic rs727505013 GRCh37 Chromosome X, 69176983: 69176983
43 EDA NM_001399.4(EDA): c.766C> T (p.Gln256Ter) single nucleotide variant Pathogenic rs727504417 GRCh37 Chromosome X, 69250343: 69250343
44 EDA NM_001399.4(EDA): c.809delT (p.Val270Glyfs) deletion Pathogenic rs727503008 GRCh37 Chromosome X, 69253263: 69253263
45 EDA NM_001399.4(EDA): c.991C> T (p.Gln331Ter) single nucleotide variant Pathogenic rs727503011 GRCh37 Chromosome X, 69255274: 69255274
46 EDA NM_001399.4(EDA): c.(?_-115)_(174_?)del deletion Pathogenic GRCh38 Chromosome X, 69616194: 69616482
47 EDA NM_001399.4(EDA): c.(?_397-304)_(460_?)del deletion Pathogenic GRCh37 Chromosome X, 69176573: 69176940
48 EDA NM_001399.4(EDA): c.(?_503)-88_(1176_?)del deletion Pathogenic GRCh37 Chromosome X, 69242980: 69255459
49 EDA NM_001399.4(EDA): c.(?_925)_(1176_?)del (p.(?)) deletion Pathogenic GRCh38 Chromosome X, 70035358: 70035609
50 EDA NM_001399.4(EDA): c.135_136insGGGT (p.Phe46Glyfs) duplication Pathogenic rs727505089 GRCh37 Chromosome X, 68836284: 68836287

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 all 48)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.94 CHUK EDA EDA2R EDAR EDARADD IKBKG
2
Show member pathways
12.92 CHUK EDA EDA2R EDAR EDARADD IKBKG
3
Show member pathways
12.89 CHUK IKBKG IRAK4 TAB2 TRAF6
4
Show member pathways
12.68 CHUK FURIN IKBKG IRAK4 TAB2 TRAF6
5 12.67 CHUK IKBKG IRAK4 TAB2 TRAF6
6
Show member pathways
12.6 CHUK IKBKG IRAK4 TRAF6
7 12.5 CHUK IKBKG IRAK4 TAB2 TRAF6
8
Show member pathways
12.46 CHUK IKBKG IRAK4 TAB2 TRAF6
9
Show member pathways
12.37 CHUK IKBKG IRAK4 TAB2 TRAF6
10
Show member pathways
12.36 CHUK IKBKG TAB2 TRAF6
11
Show member pathways
12.36 CHUK IKBKG TAB2 TRAF6
12 12.35 CHUK IKBKG MSX1 WNT10A
13
Show member pathways
12.3 CHUK IKBKG TAB2 TRAF6
14
Show member pathways
12.28 CHUK IKBKG TAB2 TRAF6
15
Show member pathways
12.26 CHUK IKBKG TAB2 TRAF6
16 12.23 CHUK IKBKG TAB2 TRAF6
17
Show member pathways
12.19 CHUK IKBKG TAB2 TRAF6
18
Show member pathways
12.18 CHUK IKBKG IRAK4 TAB2 TRAF6
19 12.14 MSX1 PAX9 TAB2
20
Show member pathways
12.13 CHUK IKBKG IRAK4 TAB2 TRAF6
21
Show member pathways
12.1 CHUK FURIN TRAF6
22
Show member pathways
12.07 CHUK IKBKG IRAK4 TAB2 TRAF6
23
Show member pathways
12.05 CHUK IKBKG TRAF6
24 12.02 CHUK IKBKG TRAF6
25
Show member pathways
12.01 CHUK IKBKG IRAK4 TAB2 TRAF6
26 11.99 CHUK IKBKG TAB2 TRAF6
27 11.97 CHUK IKBKG TRAF6
28
Show member pathways
11.93 CHUK IKBKG TAB2 TRAF6
29
Show member pathways
11.88 CHUK IKBKG TRAF6
30 11.88 CHUK IKBKG TAB2
31
Show member pathways
11.87 CHUK IKBKG IRAK4 TAB2 TRAF6
32
Show member pathways
11.81 CHUK IKBKG TRAF6
33 11.8 CHUK IKBKG TRAF6
34
Show member pathways
11.76 CHUK EDA EDA2R EDAR IKBKG IRAK4
35
Show member pathways
11.71 EDA EDA2R EDAR EDARADD
36
Show member pathways
11.68 CHUK IKBKG TRAF6
37
Show member pathways
11.55 CHUK FURIN IKBKG TRAF6
38 11.51 CHUK IKBKG TRAF6
39 11.33 CHUK IKBKG IRAK4 TAB2 TRAF6
40 11.19 CHUK IKBKG
41 11.16 TAB2 TRAF6
42 11.1 CHUK IKBKG TRAF6
43 11.09 CHUK IKBKG TRAF6
44 11.06 CHUK IKBKG TRAF6
45 11.05 CHUK IKBKG
46 11 CHUK IKBKG
47 10.62 CHUK IKBKG TRAF6
48 10.61 CHUK IKBKG

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:

# 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 26)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.92 CHUK EDA IKBKG TRAF6
2 Fc-epsilon receptor signaling pathway GO:0038095 9.85 CHUK IKBKG TAB2 TRAF6
3 T cell receptor signaling pathway GO:0050852 9.83 CHUK IKBKG TAB2 TRAF6
4 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.78 CHUK IKBKG TAB2 TRAF6
5 activation of MAPK activity GO:0000187 9.74 IKBKG TAB2 TRAF6
6 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.73 CHUK IKBKG TAB2 TRAF6
7 tumor necrosis factor-mediated signaling pathway GO:0033209 9.72 CHUK EDA EDA2R EDAR EDARADD
8 odontogenesis of dentin-containing tooth GO:0042475 9.71 EDA EDAR MSX1 TRAF6
9 odontogenesis GO:0042476 9.69 MSX1 PAX9 WNT10A
10 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.67 IRAK4 TAB2 TRAF6
11 JNK cascade GO:0007254 9.67 IKBKG IRAK4 TAB2 TRAF6
12 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.63 CHUK IKBKG
13 face morphogenesis GO:0060325 9.62 MSX1 PAX9
14 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.61 CHUK IKBKG
15 stress-activated MAPK cascade GO:0051403 9.6 CHUK IKBKG
16 positive regulation of NF-kappaB import into nucleus GO:0042346 9.59 EDA EDAR
17 interleukin-1-mediated signaling pathway GO:0070498 9.58 IRAK4 TRAF6
18 toll-like receptor 9 signaling pathway GO:0034162 9.58 IRAK4 TRAF6
19 salivary gland cavitation GO:0060662 9.56 EDA EDAR
20 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.56 CHUK IKBKG TAB2 TRAF6
21 regulation of odontogenesis GO:0042481 9.54 MSX1 PAX9
22 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.5 CHUK EDA EDA2R IKBKG IRAK4 TAB2
23 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.46 CHUK IKBKG TAB2 TRAF6
24 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.23 CHUK EDA EDA2R EDAR IKBKG IRAK4
25 multicellular organism development GO:0007275 10.06 EDA EDA2R EDAR EDARADD KDF1 MSX1
26 cell differentiation GO:0030154 10 EDA EDA2R EDAR EDARADD KDF1

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

# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor receptor binding GO:0005164 8.96 EDA TRAF6
2 K63-linked polyubiquitin modification-dependent protein binding GO:0070530 8.62 IKBKG TAB2

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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