MCID: ECT062
MIFTS: 67

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

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Fetal diseases, Oral diseases, Bone 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 57 75 13 73
Hypohidrotic Ectodermal Dysplasia 12 76 24 53 25 59 29 6 15
Christ-Siemens-Touraine Syndrome 12 24 53 25 73
Hed 57 53 25 59 75
Anhidrotic Ectodermal Dysplasia 24 53 25 59
Hypohidrotic X-Linked Ectodermal Dysplasia 12 29 6
Ectodermal Dysplasia, Hypohidrotic 57 53 55
Eda 57 53 75
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome 29 6
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 44 73
Ectodermal Dysplasia Anhidrotic 53 75
Ectd10b 57 75
Dysplasia, Ectodermal, Type 10b, Hypohidrotic/hair/tooth, Autosomal Recessive 40
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 73
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive 75
X-Linked Hypohidrotic Ectodermal Dysplasia 53
Hypohidrotic Ectodermal Dysplasia X-Linked 53
Anhidrotic Ectodermal Dysplasia X-Linked 53
Ectodermal Dysplasia, Hypohidrotic; Hed 57
Ectodermal Dysplasia, Anhidrotic; Eda 57
Dysplasia, Ectodermal, Hypohidrotic 40
Ectodermal Dysplasia 1, Anhydrotic 12
Ectodermal Dysplasia 1, Anhidrotic 44
Ectodermal Dysplasia 3, Anhidrotic 73
Anhidrotic Ectodermal Dysplasia 3 12
Ectodermal Dysplasia, Anhidrotic 57
Ectodermal Dysplasia 1 53
Cst Syndrome 25
Xhed 53

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 57 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 1, hypohidrotic, x-linked and hypohidrotic ectodermal dysplasia autosomal recessive, and has symptoms including dyspnea, dry skin and koilonychia. 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 Toll-like Receptor Signaling Pathway. The drugs Anesthetics and Anesthetics, Local have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related phenotypes are frontal bossing and failure to thrive

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 : 53 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).

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 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 23)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 1, hypohidrotic, x-linked 33.6 EDA EDA2R
2 hypohidrotic ectodermal dysplasia autosomal recessive 33.5 EDAR EDARADD WNT10A
3 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 31.9 EDAR EDARADD KDF1 TRAF6
4 ectodermal dysplasia 29.9 EDA EDA2R EDAR EDARADD IKBKG
5 immunodeficiency without anhidrotic ectodermal dysplasia 12.5
6 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema 12.5
7 ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant 12.5
8 ectodermal dysplasia, hypohidrotic, with immune deficiency 12.3
9 hypohidrotic ectodermal dysplasia with immunodeficiency 12.3
10 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 12.2
11 deafness with anhidrotic ectodermal dysplasia 12.2
12 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum 12.1
13 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 11.3
14 extratemporal epilepsy 10.0 EDAR WNT10A
15 sweat gland disease 10.0 EDA EDARADD
16 clouston syndrome 9.7 EDA EDAR EDARADD WNT10A
17 hypotrichosis 9.6 EDA EDAR EDARADD WNT10A
18 tooth size 9.6 MSX1 PAX9
19 hypohidrosis 9.6 EDA EDAR EDARADD MSX1
20 incontinentia pigmenti 9.4 CHUK IKBKG TRAF6
21 anodontia 9.3 EDAR EDARADD MSX1 PAX9
22 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 8.4 EDAR EDARADD IKBKG MSX1 PAX9 WNT10A
23 tooth agenesis 8.0 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:

57
Head And Neck Face:
frontal bossing

Skin Nails Hair Skin:
hypohidrosis
anhidrosis

Metabolic Features:
intolerance to heat and fever

Head And Neck Eyes:
periorbital wrinkles
periorbital hyperpigmentation

Head And Neck Teeth:
microdontia
hypodontia
anodontia
misshapen teeth

Skin Nails Hair Hair:
hypotrichosis
sparse eyelashes and eyebrows

Head And Neck Mouth:
prominent lips

Head And Neck Nose:
depressed nasal bridge ('saddle nose')


Clinical features from OMIM:

224900

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

59 32 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
2 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
3 abnormal facial shape 59 32 hallmark (90%) Very frequent (99-80%) HP:0001999
4 thick vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0012471
5 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
6 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
7 abnormality of the nail 59 32 occasional (7.5%) Occasional (29-5%) HP:0001597
8 hyperkeratosis 59 32 frequent (33%) Frequent (79-30%) HP:0000962
9 sinusitis 59 32 frequent (33%) Frequent (79-30%) HP:0000246
10 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
11 dry skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000958
12 hypohidrosis 59 32 hallmark (90%) Frequent (79-30%) HP:0000966
13 nephrotic syndrome 59 32 frequent (33%) Frequent (79-30%) HP:0000100
14 abnormal hair quantity 59 32 occasional (7.5%) Occasional (29-5%) HP:0011362
15 keratoconjunctivitis sicca 59 32 hallmark (90%) Very frequent (99-80%) HP:0001097
16 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
17 xerostomia 59 32 frequent (33%) Frequent (79-30%) HP:0000217
18 irregular hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007400
19 reduced number of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009804
20 cough 59 32 frequent (33%) Frequent (79-30%) HP:0012735
21 eczema 59 32 frequent (33%) Frequent (79-30%) HP:0000964
22 abnormality of dental morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0006482
23 aplasia/hypoplasia of the eyebrow 59 32 hallmark (90%) Frequent (79-30%) HP:0100840
24 generalized hypopigmentation of hair 59 32 frequent (33%) Frequent (79-30%) HP:0011358
25 slow-growing hair 59 32 frequent (33%) Frequent (79-30%) HP:0002217
26 trichorrhexis nodosa 59 32 frequent (33%) Frequent (79-30%) HP:0009886
27 breast aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100783
28 abnormality of the abdominal wall 59 32 frequent (33%) Frequent (79-30%) HP:0004298
29 hypertension 32 occasional (7.5%) HP:0000822
30 depressed nasal bridge 32 HP:0005280
31 abnormality of the dentition 59 Very frequent (99-80%)
32 type i diabetes mellitus 32 occasional (7.5%) HP:0100651
33 delayed eruption of teeth 32 hallmark (90%) HP:0000684
34 everted lower lip vermilion 32 hallmark (90%) HP:0000232
35 microdontia 32 hallmark (90%) HP:0000691
36 abnormality of immune system physiology 59 Very frequent (99-80%)
37 anterior hypopituitarism 32 occasional (7.5%) HP:0000830
38 depressed nasal ridge 32 hallmark (90%) HP:0000457
39 hypotrichosis 32 hallmark (90%) HP:0001006
40 hypodontia 32 HP:0000668
41 inflammatory abnormality of the eye 59 Frequent (79-30%)
42 sparse body hair 32 hallmark (90%) HP:0002231
43 short distal phalanx of finger 32 occasional (7.5%) HP:0009882
44 everted upper lip vermilion 32 hallmark (90%) HP:0010803
45 anhidrosis 32 HP:0000970
46 sparse eyelashes 32 HP:0000653
47 heat intolerance 32 HP:0002046
48 anodontia 32 HP:0000674
49 periorbital wrinkles 32 HP:0000607
50 periorbital hyperpigmentation 32 HP:0001106

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
# 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:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 MSX1 PAX9 CHUK TRAF6 EDAR WNT10A
2 digestive/alimentary MP:0005381 10.16 CHUK EDAR FURIN IKBKG KDF1 MSX1
3 craniofacial MP:0005382 10.13 CHUK EDAR EDARADD KDF1 MSX1 PAX9
4 endocrine/exocrine gland MP:0005379 10.1 CHUK EDAR EDARADD IKBKG MSX1 PAX9
5 integument MP:0010771 10.1 EDARADD FURIN IKBKG KDF1 MSX1 TAB2
6 hematopoietic system MP:0005397 10.03 CHUK EDARADD FURIN IKBKG IRAK4 PAX9
7 limbs/digits/tail MP:0005371 10.02 CHUK EDAR EDARADD FURIN KDF1 MSX1
8 mortality/aging MP:0010768 9.96 TRAF6 CHUK EDAR EDARADD FURIN IKBKG
9 hearing/vestibular/ear MP:0005377 9.93 MSX1 PAX9 TRAF6 CHUK EDARADD KDF1
10 liver/biliary system MP:0005370 9.8 CHUK FURIN IKBKG MSX1 TAB2 TRAF6
11 reproductive system MP:0005389 9.5 CHUK EDAR EDARADD IKBKG KDF1 PAX9
12 pigmentation MP:0001186 9.46 EDAR EDARADD IKBKG TRAF6
13 skeleton MP:0005390 9.17 CHUK EDAR EDARADD MSX1 PAX9 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics Not Applicable
2 Anesthetics, Local Not Applicable

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Pivotal Study (Pharmacokinetics, Efficacy, Safety) of BAX 326 (rFIX) in Hemophilia B Patients Completed NCT01174446 Phase 3
2 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 EDI200
3 A Phase 1, Open-label, Multicenter, Safety and Pharmacokinetic Study of EDI200 Completed NCT01564225 Phase 1 EDI200
4 Sonography in Hypotension and Cardiac Arrest in the Emergency Department. Unknown status NCT01419106 Not Applicable
5 Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation Completed NCT01386775
6 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - A Completed NCT01293565
7 Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype Completed NCT01398397
8 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012) Completed NCT01629927
9 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
10 X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction Survey Completed NCT01398813
11 Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia Completed NCT01109290
12 Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia Completed NCT01135888
13 Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia Completed NCT01308333
14 Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia Completed NCT02099552
15 Phenotypic Properties in Individuals Affected With XLHED Completed NCT01871714
16 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia Completed NCT01108770
17 Sweat Duct Imaging in Mother/Newborn Dyads Completed NCT01342133
18 EDICT - Exercise inDuced Changes In Colorectal Cancer Tissues Completed NCT02056691 Not Applicable
19 Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 Active, not recruiting NCT01992289 EDI200

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:

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

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:

41
Skin, Eye, Bone, Testes, Breast, Brain, Trachea

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 342)
# Title Authors Year
1
A novel splicing mutation of ectodysplasin A gene responsible for hypohidrotic ectodermal dysplasia. ( 29676859 )
2018
2
Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia: A systematic review. ( 29679503 )
2018
3
A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates. ( 29915774 )
2018
4
Two EDA Gene Mutations in Chinese Patients with Hypohidrotic Ectodermal Dysplasia. ( 29444360 )
2018
5
Hypohidrotic ectodermal dysplasia with strabismus. ( 29573265 )
2018
6
Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia. ( 29694819 )
2018
7
Two cases of hypohidrotic ectodermal dysplasia caused by novel deletion mutations in the EDA gene. ( 29905390 )
2018
8
Hypohidrotic ectodermal dysplasia: clinical and molecular review. ( 29855039 )
2018
9
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
10
Prosthetic rehabilitation in a pediatric patient with hypohidrotic ectodermal dysplasia: a case report. ( 28862593 )
2017
11
Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis. ( 28981473 )
2017
12
Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia. ( 28045201 )
2017
13
X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation. ( 28877528 )
2017
14
Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands. ( 28498389 )
2017
15
Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development. ( 28553001 )
2017
16
[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia]. ( 28097853 )
2017
17
Delayed-onset heat intolerance in a Japanese patient with X-linked hypohidrotic ectodermal dysplasia associated with a large deletion involving four genes. ( 28444782 )
2017
18
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
19
BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency. ( 27411570 )
2016
20
Anticipated stigma and blameless guilt: Mothers' evaluation of life with the sex-linked disorder, hypohidrotic ectodermal dysplasia (XHED). ( 27140840 )
2016
21
Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathology. ( 27378689 )
2016
22
The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia. ( 27168349 )
2016
23
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
24
Acquired Dermal Melanocytosis Occurring in a Patient with Hypohidrotic Ectodermal Dysplasia. ( 27904288 )
2016
25
Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients. ( 27657131 )
2016
26
Tissue expansion for correction of alopecia in a child with hypohidrotic ectodermal dysplasia. ( 27177435 )
2016
27
Image Gallery: Periorbital and temporal dermal melanocytosis of hypohidrotic ectodermal dysplasia. ( 27996143 )
2016
28
Prosthetic Management of a Child with Hypohidrotic Ectodermal Dysplasia: 6-Year Follow-Up. ( 27822392 )
2016
29
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements. ( 27305980 )
2016
30
A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype. ( 27449516 )
2016
31
Erratum: Dental management of hypohidrotic ectodermal dysplasia: A report of two cases. ( 27041918 )
2016
32
Hypohidrotic ectodermal dysplasia: A report of two cases. ( 27264909 )
2016
33
Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia. ( 26273176 )
2015
34
Identification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia. ( 26634545 )
2015
35
Novel missense mutation in the EDA1 gene identified in a family with hypohidrotic ectodermal dysplasia. ( 25626993 )
2015
36
Molecular basis of hypohidrotic ectodermal dysplasia: an update. ( 26294279 )
2015
37
HYPOHIDROTIC ECTODERMAL DYSPLASIA. ( 27004366 )
2015
38
Perinatal Autopsy Findings in a Case of De Novo Hypohidrotic Ectodermal Dysplasia. ( 26417167 )
2015
39
Lower lid ectropion in hypohidrotic ectodermal dysplasia. ( 25802783 )
2015
40
Dental management of hypohidrotic ectodermal dysplasia: A report of two cases. ( 26321846 )
2015
41
Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation. ( 25684924 )
2015
42
A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia. ( 26440664 )
2015
43
Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation. ( 26411740 )
2015
44
Dental Implant Therapy for a Child with X-linked Hypohidrotic Ectodermal Dysplasia--Three Decades of Managed Care. ( 26218015 )
2015
45
Hypohidrotic ectodermal dysplasia. ( 25821743 )
2015
46
Hypohidrotic Ectodermal Dysplasia. ( 26843773 )
2015
47
EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature. ( 26345974 )
2015
48
A novel missense mutation in collagenous domain of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia. ( 25846883 )
2015
49
False-Negative Sweat Chloride Testing in a Child With Cystic Fibrosis and Undiagnosed Hypohidrotic Ectodermal Dysplasia. ( 24419263 )
2014
50
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

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:

75 (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 243)
# 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 EDARADD NM_080738.3(EDARADD): c.424G> A (p.Glu142Lys) single nucleotide variant Pathogenic rs74315309 GRCh38 Chromosome 1, 236482455: 236482455
3 EDAR EDAR, 18-BP DEL, IVS2 deletion Pathogenic
4 EDAR NM_022336.3(EDAR): c.266G> A (p.Arg89His) single nucleotide variant Pathogenic rs121908450 GRCh37 Chromosome 2, 109545744: 109545744
5 EDAR NM_022336.3(EDAR): c.266G> A (p.Arg89His) single nucleotide variant Pathogenic rs121908450 GRCh38 Chromosome 2, 108929288: 108929288
6 EDAR EDAR, DEL deletion Pathogenic
7 EDAR NM_022336.3(EDAR): c.259T> C (p.Cys87Arg) single nucleotide variant Pathogenic rs121908451 GRCh37 Chromosome 2, 109545751: 109545751
8 EDAR NM_022336.3(EDAR): c.259T> C (p.Cys87Arg) single nucleotide variant Pathogenic rs121908451 GRCh38 Chromosome 2, 108929295: 108929295
9 EDAR NM_022336.3(EDAR): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic rs121908452 GRCh37 Chromosome 2, 109513638: 109513638
10 EDAR NM_022336.3(EDAR): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic rs121908452 GRCh38 Chromosome 2, 108897182: 108897182
11 EDAR NM_022336.3(EDAR): c.51+1G> A single nucleotide variant Pathogenic rs797044435 GRCh37 Chromosome 2, 109547419: 109547419
12 EDAR NM_022336.3(EDAR): c.51+1G> A single nucleotide variant Pathogenic rs797044435 GRCh38 Chromosome 2, 108930963: 108930963
13 EDAR NM_022336.3(EDAR): c.1124G> A (p.Arg375His) single nucleotide variant Pathogenic rs121908454 GRCh37 Chromosome 2, 109513586: 109513586
14 EDAR NM_022336.3(EDAR): c.1124G> A (p.Arg375His) single nucleotide variant Pathogenic rs121908454 GRCh38 Chromosome 2, 108897130: 108897130
15 EDAR NM_022336.3(EDAR): c.329A> C (p.Asp110Ala) single nucleotide variant Pathogenic rs121908455 GRCh37 Chromosome 2, 109545681: 109545681
16 EDAR NM_022336.3(EDAR): c.329A> C (p.Asp110Ala) single nucleotide variant Pathogenic rs121908455 GRCh38 Chromosome 2, 108929225: 108929225
17 EDAR NM_022336.3(EDAR): c.719_722delAAGA (p.Lys240Argfs) deletion Pathogenic rs797044436 GRCh37 Chromosome 2, 109527240: 109527243
18 EDAR NM_022336.3(EDAR): c.719_722delAAGA (p.Lys240Argfs) deletion Pathogenic rs797044436 GRCh38 Chromosome 2, 108910784: 108910787
19 EDAR NM_022336.3(EDAR): c.803+1G> A single nucleotide variant Pathogenic rs797044437 GRCh38 Chromosome 2, 108910459: 108910459
20 EDAR NM_022336.3(EDAR): c.803+1G> A single nucleotide variant Pathogenic rs797044437 GRCh37 Chromosome 2, 109526915: 109526915
21 EDA EDA, 36-BP DEL, EX5 deletion Pathogenic
22 EDA NM_001399.4(EDA): c.181T> C (p.Tyr61His) single nucleotide variant Likely pathogenic rs132630308 GRCh37 Chromosome X, 68836333: 68836333
23 EDA NM_001399.4(EDA): c.181T> C (p.Tyr61His) single nucleotide variant Likely pathogenic rs132630308 GRCh38 Chromosome X, 69616489: 69616489
24 EDA NM_001399.4(EDA): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs132630310 GRCh37 Chromosome X, 68836219: 68836219
25 EDA NM_001399.4(EDA): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs132630310 GRCh38 Chromosome X, 69616375: 69616375
26 EDA NM_001399.4(EDA): c.187G> A (p.Glu63Lys) single nucleotide variant Pathogenic rs132630311 GRCh37 Chromosome X, 68836339: 68836339
27 EDA NM_001399.4(EDA): c.187G> A (p.Glu63Lys) single nucleotide variant Pathogenic rs132630311 GRCh38 Chromosome X, 69616495: 69616495
28 EDA NM_001399.4(EDA): c.463C> T (p.Arg155Cys) single nucleotide variant Pathogenic rs132630312 GRCh37 Chromosome X, 69176943: 69176943
29 EDA NM_001399.4(EDA): c.463C> T (p.Arg155Cys) single nucleotide variant Pathogenic rs132630312 GRCh38 Chromosome X, 69957093: 69957093
30 EDA NM_001399.4(EDA): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs132630313 GRCh37 Chromosome X, 69176946: 69176946
31 EDA NM_001399.4(EDA): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs132630313 GRCh38 Chromosome X, 69957096: 69957096
32 EDA NM_001399.4(EDA): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic rs132630314 GRCh37 Chromosome X, 69176947: 69176947
33 EDA NM_001399.4(EDA): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic rs132630314 GRCh38 Chromosome X, 69957097: 69957097
34 EDA NM_001399.4(EDA): c.671G> C (p.Gly224Ala) single nucleotide variant Pathogenic rs132630316 GRCh37 Chromosome X, 69247851: 69247851
35 EDA NM_001399.4(EDA): c.671G> C (p.Gly224Ala) single nucleotide variant Pathogenic rs132630316 GRCh38 Chromosome X, 70028001: 70028001
36 EDA NM_001399.4(EDA): c.1045G> A (p.Ala349Thr) single nucleotide variant Pathogenic rs132630317 GRCh37 Chromosome X, 69255328: 69255328
37 EDA NM_001399.4(EDA): c.1045G> A (p.Ala349Thr) single nucleotide variant Pathogenic rs132630317 GRCh38 Chromosome X, 70035478: 70035478
38 EDA NM_001399.4(EDA): c.183C> G (p.Tyr61Ter) single nucleotide variant Pathogenic rs132630318 GRCh37 Chromosome X, 68836335: 68836335
39 EDA NM_001399.4(EDA): c.183C> G (p.Tyr61Ter) single nucleotide variant Pathogenic rs132630318 GRCh38 Chromosome X, 69616491: 69616491
40 EDA EDA, 1-BP DEL, EX6 deletion Pathogenic
41 EDA EDA, 1-BP INS, 573T insertion Pathogenic
42 EDA EDA, 2-BP INS, 913TA insertion Pathogenic
43 EDA NM_001399.4(EDA): c.826C> T (p.Arg276Cys) single nucleotide variant Pathogenic rs387907197 GRCh37 Chromosome X, 69253280: 69253280
44 EDA NM_001399.4(EDA): c.826C> T (p.Arg276Cys) single nucleotide variant Pathogenic rs387907197 GRCh38 Chromosome X, 70033430: 70033430
45 EDA NM_001399.4(EDA): c.1094T> C (p.Val365Ala) single nucleotide variant Pathogenic/Likely pathogenic rs397516654 GRCh37 Chromosome X, 69255377: 69255377
46 EDA NM_001399.4(EDA): c.1094T> C (p.Val365Ala) single nucleotide variant Pathogenic/Likely pathogenic rs397516654 GRCh38 Chromosome X, 70035527: 70035527
47 EDA NM_001399.4(EDA): c.272_273insG (p.Ser91Argfs) duplication Pathogenic rs397516656 GRCh37 Chromosome X, 68836424: 68836424
48 EDA NM_001399.4(EDA): c.272_273insG (p.Ser91Argfs) duplication Pathogenic rs397516656 GRCh38 Chromosome X, 69616580: 69616580
49 EDA NM_001399.4(EDA): c.164T> A (p.Leu55Gln) single nucleotide variant Likely pathogenic rs397516657 GRCh37 Chromosome X, 68836316: 68836316
50 EDA NM_001399.4(EDA): c.164T> A (p.Leu55Gln) single nucleotide variant Likely pathogenic rs397516657 GRCh38 Chromosome X, 69616472: 69616472

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 49)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 CHUK EDA EDA2R EDAR EDARADD IKBKG
2
Show member pathways
12.93 CHUK IKBKG IRAK4 TAB2 TRAF6
3
Show member pathways
12.92 CHUK EDA EDA2R EDAR EDARADD IKBKG
4
Show member pathways
12.83 CHUK EDA EDA2R EDAR IKBKG TAB2
5
Show member pathways
12.7 CHUK FURIN IKBKG IRAK4 TAB2 TRAF6
6 12.68 CHUK IKBKG IRAK4 TAB2 TRAF6
7
Show member pathways
12.61 CHUK IKBKG IRAK4 TRAF6
8 12.52 CHUK IKBKG IRAK4 TAB2 TRAF6
9
Show member pathways
12.39 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
Show member pathways
12.36 CHUK IKBKG TAB2 TRAF6
13
Show member pathways
12.36 CHUK IKBKG IRAK4 TAB2 TRAF6
14 12.35 CHUK IKBKG MSX1 WNT10A
15
Show member pathways
12.3 CHUK IKBKG IRAK4 TAB2 TRAF6
16
Show member pathways
12.28 CHUK IKBKG TAB2 TRAF6
17
Show member pathways
12.26 CHUK IKBKG TAB2 TRAF6
18 12.23 CHUK IKBKG TAB2 TRAF6
19
Show member pathways
12.22 CHUK IKBKG IRAK4 TAB2 TRAF6
20
Show member pathways
12.17 CHUK IKBKG IRAK4 TAB2 TRAF6
21 12.14 MSX1 PAX9 TAB2
22
Show member pathways
12.13 CHUK IKBKG IRAK4 TAB2 TRAF6
23
Show member pathways
12.1 CHUK FURIN TRAF6
24
Show member pathways
12.05 CHUK IKBKG TRAF6
25
Show member pathways
12.05 CHUK IKBKG IRAK4 TAB2 TRAF6
26 12.02 CHUK IKBKG TRAF6
27
Show member pathways
12.02 CHUK IKBKG IRAK4 TAB2 TRAF6
28 12.01 CHUK IKBKG TAB2 TRAF6
29 11.97 CHUK IKBKG TRAF6
30
Show member pathways
11.95 CHUK IKBKG TAB2 TRAF6
31
Show member pathways
11.88 CHUK IKBKG TRAF6
32 11.88 CHUK IKBKG TAB2
33
Show member pathways
11.87 CHUK IKBKG IRAK4 TAB2 TRAF6
34
Show member pathways
11.81 CHUK IKBKG TRAF6
35 11.81 CHUK IKBKG TRAF6
36
Show member pathways
11.68 CHUK IKBKG TRAF6
37
Show member pathways
11.6 CHUK FURIN IKBKG TRAF6
38 11.52 CHUK IKBKG TRAF6
39 11.2 CHUK IKBKG
40 11.16 TAB2 TRAF6
41 11.12 CHUK IKBKG TRAF6
42 11.11 CHUK IKBKG TRAF6
43 11.09 CHUK IKBKG TRAF6
44 11.05 CHUK IKBKG
45 11.01 CHUK IKBKG
46 11 CHUK IKBKG IRAK4 TAB2 TRAF6
47 10.73 EDA EDA2R EDAR EDARADD
48 10.69 CHUK IKBKG TRAF6
49 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 CD40 receptor complex GO:0035631 9.16 CHUK TRAF6
2 IkappaB kinase complex GO:0008385 8.96 CHUK IKBKG
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 9.91 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 9.75 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 interleukin-1-mediated signaling pathway GO:0070498 9.65 CHUK IKBKG IRAK4 TAB2 TRAF6
13 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.63 IKBKG TRAF6
14 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.62 CHUK IKBKG
15 face morphogenesis GO:0060325 9.62 MSX1 PAX9
16 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.61 CHUK IKBKG
17 tissue development GO:0009888 9.6 EDA2R EDAR
18 stress-activated MAPK cascade GO:0051403 9.59 CHUK IKBKG
19 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.58 CHUK IKBKG
20 toll-like receptor 9 signaling pathway GO:0034162 9.57 IRAK4 TRAF6
21 salivary gland cavitation GO:0060662 9.56 EDA EDAR
22 regulation of odontogenesis GO:0042481 9.54 MSX1 PAX9
23 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.5 CHUK EDA EDA2R IKBKG IRAK4 TAB2
24 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.46 CHUK IKBKG TAB2 TRAF6
25 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.23 CHUK EDA EDA2R EDAR IKBKG IRAK4
26 multicellular organism development GO:0007275 10.06 EDA EDA2R EDAR EDARADD KDF1 MSX1

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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