ECTD10B
MCID: ECT062
MIFTS: 66

Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive (ECTD10B)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin 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 58 76 13 74
Hypohidrotic Ectodermal Dysplasia 12 77 25 54 26 60 38 30 6 15
Christ-Siemens-Touraine Syndrome 12 25 54 26 74
Hed 58 54 26 60 76
Anhidrotic Ectodermal Dysplasia 25 54 26 60
Hypohidrotic X-Linked Ectodermal Dysplasia 12 30 6
Ectodermal Dysplasia, Hypohidrotic 58 54 56
Eda 58 54 76
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome 30 6
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 45 74
Ectodermal Dysplasia Anhidrotic 54 76
Ectd10b 58 76
Dysplasia, Ectodermal, Type 10b, Hypohidrotic/hair/tooth, Autosomal Recessive 41
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 74
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive 76
X-Linked Hypohidrotic Ectodermal Dysplasia 54
Hypohidrotic Ectodermal Dysplasia X-Linked 54
Anhidrotic Ectodermal Dysplasia X-Linked 54
Ectodermal Dysplasia, Hypohidrotic; Hed 58
Ectodermal Dysplasia, Anhidrotic; Eda 58
Dysplasia, Ectodermal, Hypohidrotic 41
Ectodermal Dysplasia 1, Anhydrotic 12
Ectodermal Dysplasia 1, Anhidrotic 45
Ectodermal Dysplasia 3, Anhidrotic 74
Anhidrotic Ectodermal Dysplasia 3 12
Ectodermal Dysplasia, Anhidrotic 58
Ectodermal Dysplasia 1 54
Cst Syndrome 26
Xhed 54

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive

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


HPO:

33
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 : 58 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). (224900)

MalaCards based summary : Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive, also known as hypohidrotic ectodermal dysplasia, is related to ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant and ectodermal dysplasia 1, hypohidrotic, x-linked, and has symptoms including dyspnea, dry skin and spontaneous, recurrent epistaxis. 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 Cytokine-cytokine receptor interaction and Cytokine Signaling in Immune system. The drugs Immunologic Factors and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and liver, and related phenotypes are abnormal facial shape and thick vermilion border

Disease Ontology : 12 An ectodermal dysplasia 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 : 26 Hypohidrotic ectodermal dysplasia is one of more than 100 types of ectodermal dysplasia. Starting before birth, these disorders result in the abnormal development of ectodermal tissues, particularly the skin, hair, nails, teeth, and sweat glands.

NIH Rare Diseases : 54 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 : 76 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 : 77 Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. Before... 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 top 50) (show all 142)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 32.0 EDAR EDARADD KDF1
2 ectodermal dysplasia 1, hypohidrotic, x-linked 31.8 EDA EDA2R
3 hypohidrotic ectodermal dysplasia autosomal recessive 31.2 EDAR EDARADD WNT10A
4 anodontia 31.2 EDA EDARADD MSX1 PAX9
5 clouston syndrome 31.0 EDA EDAR EDARADD WNT10A
6 tooth agenesis 30.9 EDA EDA2R EDAR EDARADD MSX1 PAX9
7 incontinentia pigmenti 30.5 CHUK EDAR IKBKG
8 ectodermal dysplasia 29.1 CHUK EDA EDA2R EDAR EDARADD IKBKG
9 immunodeficiency without anhidrotic ectodermal dysplasia 12.8
10 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema 12.7
11 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 12.4
12 deafness with anhidrotic ectodermal dysplasia 12.4
13 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum 12.3
14 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 11.8
15 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 11.8
16 tooth agenesis, selective, x-linked, 1 11.7
17 ectodermal dysplasia and immunodeficiency 1 11.6
18 craniofrontonasal syndrome 11.5
19 anhidrosis 11.5
20 rapp-hodgkin syndrome 11.5
21 immunodeficiency 33 11.5
22 lelis syndrome 11.5
23 viljoen winship syndrome 11.3
24 breasts and/or nipples, aplasia or hypoplasia of, 1 11.3
25 marshall syndrome 11.3
26 breasts and/or nipples, aplasia or hypoplasia of, 2 11.3
27 hypermobile ehlers-danlos syndrome 11.2
28 goodpasture syndrome 11.1
29 taurodontism 11.1
30 hypothyroidism, central, and testicular enlargement 11.1
31 acute proliferative glomerulonephritis 11.1
32 hepatic infarction 11.1
33 sweat gland disease 11.1
34 seminal vesicle adenocarcinoma 11.1
35 orchitis 11.1
36 seminal vesicle tumor 11.1
37 hypotrichosis 11.1
38 anti-basement membrane glomerulonephritis 11.1
39 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 11.1
40 ectodermal dysplasia and immunodeficiency 2 11.0
41 hypohidrotic ectodermal dysplasia with immunodeficiency 11.0
42 vitiligo-associated multiple autoimmune disease susceptibility 1 10.5
43 palmoplantar keratosis 10.5
44 ameloonychohypohidrotic syndrome 10.5
45 book syndrome 10.5
46 dermatopathia pigmentosa reticularis 10.5
47 dermoodontodysplasia 10.5
48 ectodermal dysplasia, trichoodontoonychial type 10.5
49 naegeli-franceschetti-jadassohn syndrome 10.5
50 witkop syndrome 10.5

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...

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

60 33 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal facial shape 60 33 hallmark (90%) Very frequent (99-80%) HP:0001999
2 thick vermilion border 60 33 hallmark (90%) Very frequent (99-80%) HP:0012471
3 thin skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000963
4 dry skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000958
5 hypohidrosis 60 33 hallmark (90%) Frequent (79-30%) HP:0000966
6 keratoconjunctivitis sicca 60 33 hallmark (90%) Very frequent (99-80%) HP:0001097
7 hypoplasia of the maxilla 60 33 hallmark (90%) Very frequent (99-80%) HP:0000327
8 irregular hyperpigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007400
9 reduced number of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0009804
10 abnormality of dental morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0006482
11 aplasia/hypoplasia of the eyebrow 60 33 hallmark (90%) Frequent (79-30%) HP:0100840
12 delayed eruption of teeth 33 hallmark (90%) HP:0000684
13 everted lower lip vermilion 33 hallmark (90%) HP:0000232
14 microdontia 33 hallmark (90%) HP:0000691
15 depressed nasal ridge 33 hallmark (90%) HP:0000457
16 hypotrichosis 33 hallmark (90%) HP:0001006
17 sparse body hair 33 hallmark (90%) HP:0002231
18 everted upper lip vermilion 33 hallmark (90%) HP:0010803
19 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
20 anteverted nares 60 33 frequent (33%) Frequent (79-30%) HP:0000463
21 hyperkeratosis 60 33 frequent (33%) Frequent (79-30%) HP:0000962
22 sinusitis 60 33 frequent (33%) Frequent (79-30%) HP:0000246
23 nephrotic syndrome 60 33 frequent (33%) Frequent (79-30%) HP:0000100
24 xerostomia 60 33 frequent (33%) Frequent (79-30%) HP:0000217
25 cough 60 33 frequent (33%) Frequent (79-30%) HP:0012735
26 eczema 60 33 frequent (33%) Frequent (79-30%) HP:0000964
27 generalized hypopigmentation of hair 60 33 frequent (33%) Frequent (79-30%) HP:0011358
28 slow-growing hair 60 33 frequent (33%) Frequent (79-30%) HP:0002217
29 trichorrhexis nodosa 60 33 frequent (33%) Frequent (79-30%) HP:0009886
30 abnormality of the abdominal wall 60 33 frequent (33%) Frequent (79-30%) HP:0004298
31 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
32 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
33 abnormality of the nail 60 33 occasional (7.5%) Occasional (29-5%) HP:0001597
34 abnormal hair quantity 60 33 occasional (7.5%) Occasional (29-5%) HP:0011362
35 breast aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100783
36 hypertension 33 occasional (7.5%) HP:0000822
37 type i diabetes mellitus 33 occasional (7.5%) HP:0100651
38 anterior hypopituitarism 33 occasional (7.5%) HP:0000830
39 short distal phalanx of finger 33 occasional (7.5%) HP:0009882
40 depressed nasal bridge 33 HP:0005280
41 abnormality of the dentition 60 Very frequent (99-80%)
42 abnormality of immune system physiology 60 Very frequent (99-80%)
43 hypodontia 33 HP:0000668
44 inflammatory abnormality of the eye 60 Frequent (79-30%)
45 anhidrosis 33 HP:0000970
46 sparse eyelashes 33 HP:0000653
47 heat intolerance 33 HP:0002046
48 anodontia 33 HP:0000674
49 periorbital wrinkles 33 HP:0000607
50 periorbital hyperpigmentation 33 HP:0001106

Symptoms via clinical synopsis from OMIM:

58
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

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


dyspnea, dry skin, spontaneous, recurrent epistaxis, koilonychia

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.03 CHUK EDAR EDARADD FOXI3 KDF1 MSX1
2 growth/size/body region MP:0005378 10.02 CHUK EDAR EDARADD FOXI3 FURIN IKBKG
3 digestive/alimentary MP:0005381 10.01 CHUK EDAR FURIN IKBKG KDF1 MSX1
4 endocrine/exocrine gland MP:0005379 9.91 CHUK EDAR EDARADD IKBKG MSX1 PAX9
5 integument MP:0010771 9.81 CHUK EDAR EDARADD FOXI3 FURIN IKBKG
6 hearing/vestibular/ear MP:0005377 9.73 CHUK EDARADD FOXI3 KDF1 MSX1 PAX9
7 limbs/digits/tail MP:0005371 9.56 CHUK EDAR EDARADD FURIN KDF1 MSX1
8 skeleton MP:0005390 9.17 CHUK EDAR EDARADD FOXI3 MSX1 PAX9

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):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 2,Phase 1
2 Immunoglobulins Phase 2,Phase 1
3 Immunoglobulin Fc Fragments Phase 2,Phase 1
4 Antibodies Phase 2,Phase 1
5 Anesthetics Not Applicable
6 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 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 X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction Survey Completed NCT01398813
10 Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia Completed NCT01109290
11 Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia Completed NCT01135888
12 Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia Completed NCT01308333
13 Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia Completed NCT02099552
14 Phenotypic Properties in Individuals Affected With XLHED Completed NCT01871714
15 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia Completed NCT01108770
16 Sweat Duct Imaging in Mother/Newborn Dyads Completed NCT01342133
17 EDICT - Exercise inDuced Changes In Colorectal Cancer Tissues Completed NCT02056691 Not Applicable
18 Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 Active, not recruiting NCT01992289 EDI200
19 A Natural History Study to Evaluate Sweat Volume and Other Phenotypic and Genetic Characteristics in Patients Affected by XLHED Not yet recruiting NCT03912792

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 30 EDA
2 Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome 30 EDAR EDARADD
3 Hypohidrotic Ectodermal Dysplasia 30

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:

42
Skin, Eye, Liver, Testes, Bone, Brain, Salivary Gland

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 374)
# Title Authors Year
1
Two cases of hypohidrotic ectodermal dysplasia caused by novel deletion mutations in the EDA gene. ( 29905390 )
2019
2
Two Japanese families with hypohidrotic ectodermal dysplasia: Phenotypic differences between affected individuals. ( 30125999 )
2019
3
A de Novo EDA-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia. ( 30397018 )
2019
4
Variants of the ectodysplasin A1 receptor gene underlying homozygous cases of autosomal recessive hypohidrotic ectodermal dysplasia. ( 30623979 )
2019
5
Morphology of the Meibomian gland evaluated using meibography in patients with hypohidrotic ectodermal dysplasia. ( 30795945 )
2019
6
Prenatal Treatment of X-Linked Hypohidrotic Ectodermal Dysplasia using Recombinant Ectodysplasin in a Canine Model. ( 31000577 )
2019
7
Role of ectodysplasin signalling in middle ear and nasal pathology in rat and mouse models of hypohidrotic ectodermal dysplasia. ( 31028034 )
2019
8
Two EDA gene mutations in chinese patients with hypohidrotic ectodermal dysplasia. ( 29444360 )
2018
9
Hypohidrotic ectodermal dysplasia with strabismus. ( 29573265 )
2018
10
A novel splicing mutation of ectodysplasin A gene responsible for hypohidrotic ectodermal dysplasia. ( 29676859 )
2018
11
Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia: A systematic review. ( 29679503 )
2018
12
Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia. ( 29694819 )
2018
13
Hypohidrotic ectodermal dysplasia: clinical and molecular review. ( 29855039 )
2018
14
A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates. ( 29915774 )
2018
15
Genetic diagnosis for X-linked hypohidrotic ectodermal dysplasia family with a novel Ectodysplasin A gene mutation. ( 30006944 )
2018
16
[Combined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia]. ( 30067729 )
2018
17
Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia. ( 30079503 )
2018
18
Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia. ( 30117778 )
2018
19
Upper cervical spine and craniofacial morphology in hypohidrotic ectodermal dysplasia. ( 30128696 )
2018
20
Dental Management and Prosthetic Rehabilitation of Patients Suffering from Hypohidrotic Ectodermal Dysplasia: A Report of Two Case Histories. ( 30192347 )
2018
21
Clinical, radiographic, and genetic characteristics of hypohidrotic ectodermal dysplasia: A cross-sectional study. ( 30192988 )
2018
22
A frameshift variant in the EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia. ( 30276836 )
2018
23
A rare cause of fever of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation. ( 30302989 )
2018
24
Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography. ( 30394555 )
2018
25
Hypohidrotic Ectodermal Dysplasia: A Rare Disorder with Bilateral Infantile Glaucoma. ( 30540672 )
2018
26
Oral Care Program for Successful Long-Term Full Mouth Habilitation of Patients with Hypohidrotic Ectodermal Dysplasia. ( 30627453 )
2018
27
Delayed-onset heat intolerance in a Japanese patient with X-linked hypohidrotic ectodermal dysplasia associated with a large deletion involving four genes. ( 28444782 )
2018
28
A novel 1-bp deletion mutation and extremely skewed X-chromosome inactivation causing severe X-linked hypohidrotic ectodermal dysplasia in a Chinese girl. ( 28940425 )
2018
29
The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia. ( 27168349 )
2017
30
Hypohidrotic ectodermal dysplasia: A report of two cases. ( 27264909 )
2017
31
Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia. ( 28045201 )
2017
32
Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands. ( 28498389 )
2017
33
Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development. ( 28553001 )
2017
34
Prosthetic rehabilitation in a pediatric patient with hypohidrotic ectodermal dysplasia: a case report. ( 28862593 )
2017
35
X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation. ( 28877528 )
2017
36
Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis. ( 28981473 )
2017
37
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
38
[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia]. ( 28097853 )
2017
39
Tissue expansion for correction of alopecia in a child with hypohidrotic ectodermal dysplasia. ( 27177435 )
2016
40
Molecular basis of hypohidrotic ectodermal dysplasia: an update. ( 26294279 )
2016
41
A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia. ( 26440664 )
2016
42
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
43
Erratum: Dental management of hypohidrotic ectodermal dysplasia: A report of two cases. ( 27041918 )
2016
44
Anticipated stigma and blameless guilt: Mothers' evaluation of life with the sex-linked disorder, hypohidrotic ectodermal dysplasia (XHED). ( 27140840 )
2016
45
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements. ( 27305980 )
2016
46
Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathology. ( 27378689 )
2016
47
BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency. ( 27411570 )
2016
48
A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype. ( 27449516 )
2016
49
Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients. ( 27657131 )
2016
50
Prosthetic Management of a Child with Hypohidrotic Ectodermal Dysplasia: 6-Year Follow-Up. ( 27822392 )
2016

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:

76 (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 286)
# 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 WNT10A NM_025216.2(WNT10A): c.682T> A (p.Phe228Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs121908120 GRCh37 Chromosome 2, 219755011: 219755011
4 WNT10A NM_025216.2(WNT10A): c.682T> A (p.Phe228Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs121908120 GRCh38 Chromosome 2, 218890289: 218890289
5 EDAR NM_022336.4(EDAR): c.52-25_52-8del deletion Pathogenic GRCh37 Chromosome 2, 109546706: 109546723
6 EDAR NM_022336.4(EDAR): c.52-25_52-8del deletion Pathogenic GRCh38 Chromosome 2, 108930250: 108930267
7 EDAR NM_022336.3(EDAR): c.266G> A (p.Arg89His) single nucleotide variant Pathogenic rs121908450 GRCh37 Chromosome 2, 109545744: 109545744
8 EDAR NM_022336.3(EDAR): c.266G> A (p.Arg89His) single nucleotide variant Pathogenic rs121908450 GRCh38 Chromosome 2, 108929288: 108929288
9 EDAR EDAR, DEL deletion Pathogenic
10 EDAR NM_022336.3(EDAR): c.259T> C (p.Cys87Arg) single nucleotide variant Pathogenic rs121908451 GRCh37 Chromosome 2, 109545751: 109545751
11 EDAR NM_022336.3(EDAR): c.259T> C (p.Cys87Arg) single nucleotide variant Pathogenic rs121908451 GRCh38 Chromosome 2, 108929295: 108929295
12 EDAR NM_022336.3(EDAR): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic rs121908452 GRCh37 Chromosome 2, 109513638: 109513638
13 EDAR NM_022336.3(EDAR): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic rs121908452 GRCh38 Chromosome 2, 108897182: 108897182
14 EDAR NM_022336.3(EDAR): c.51+1G> A single nucleotide variant Pathogenic rs797044435 GRCh37 Chromosome 2, 109547419: 109547419
15 EDAR NM_022336.3(EDAR): c.51+1G> A single nucleotide variant Pathogenic rs797044435 GRCh38 Chromosome 2, 108930963: 108930963
16 EDAR NM_022336.3(EDAR): c.1124G> A (p.Arg375His) single nucleotide variant Pathogenic rs121908454 GRCh37 Chromosome 2, 109513586: 109513586
17 EDAR NM_022336.3(EDAR): c.1124G> A (p.Arg375His) single nucleotide variant Pathogenic rs121908454 GRCh38 Chromosome 2, 108897130: 108897130
18 EDAR NM_022336.3(EDAR): c.329A> C (p.Asp110Ala) single nucleotide variant Pathogenic rs121908455 GRCh37 Chromosome 2, 109545681: 109545681
19 EDAR NM_022336.3(EDAR): c.329A> C (p.Asp110Ala) single nucleotide variant Pathogenic rs121908455 GRCh38 Chromosome 2, 108929225: 108929225
20 EDAR NM_022336.3(EDAR): c.719_722delAAGA (p.Lys240Argfs) deletion Pathogenic rs797044436 GRCh37 Chromosome 2, 109527240: 109527243
21 EDAR NM_022336.3(EDAR): c.719_722delAAGA (p.Lys240Argfs) deletion Pathogenic rs797044436 GRCh38 Chromosome 2, 108910784: 108910787
22 EDAR NM_022336.3(EDAR): c.803+1G> A single nucleotide variant Pathogenic rs797044437 GRCh38 Chromosome 2, 108910459: 108910459
23 EDAR NM_022336.3(EDAR): c.803+1G> A single nucleotide variant Pathogenic rs797044437 GRCh37 Chromosome 2, 109526915: 109526915
24 EDA NM_001399.4(EDA): c.181T> C (p.Tyr61His) single nucleotide variant Likely pathogenic rs132630308 GRCh37 Chromosome X, 68836333: 68836333
25 EDA NM_001399.4(EDA): c.181T> C (p.Tyr61His) single nucleotide variant Likely pathogenic rs132630308 GRCh38 Chromosome X, 69616489: 69616489
26 EDA NM_001399.4(EDA): c.206G> T (p.Arg69Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs132630309 GRCh37 Chromosome X, 68836358: 68836358
27 EDA NM_001399.4(EDA): c.206G> T (p.Arg69Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs132630309 GRCh38 Chromosome X, 69616514: 69616514
28 EDA NM_001399.4(EDA): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs132630310 GRCh37 Chromosome X, 68836219: 68836219
29 EDA NM_001399.4(EDA): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs132630310 GRCh38 Chromosome X, 69616375: 69616375
30 EDA NM_001399.4(EDA): c.187G> A (p.Glu63Lys) single nucleotide variant Pathogenic rs132630311 GRCh37 Chromosome X, 68836339: 68836339
31 EDA NM_001399.4(EDA): c.187G> A (p.Glu63Lys) single nucleotide variant Pathogenic rs132630311 GRCh38 Chromosome X, 69616495: 69616495
32 EDA NM_001399.4(EDA): c.463C> T (p.Arg155Cys) single nucleotide variant Pathogenic rs132630312 GRCh37 Chromosome X, 69176943: 69176943
33 EDA EDA, 1-BP DEL, EX6 deletion Pathogenic
34 EDA NM_001399.4(EDA): c.463C> T (p.Arg155Cys) single nucleotide variant Pathogenic rs132630312 GRCh38 Chromosome X, 69957093: 69957093
35 EDA NM_001399.4(EDA): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs132630313 GRCh37 Chromosome X, 69176946: 69176946
36 EDA NM_001399.4(EDA): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs132630313 GRCh38 Chromosome X, 69957096: 69957096
37 EDA NM_001399.4(EDA): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic rs132630314 GRCh37 Chromosome X, 69176947: 69176947
38 EDA NM_001399.4(EDA): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic rs132630314 GRCh38 Chromosome X, 69957097: 69957097
39 EDA NM_001399.4(EDA): c.626C> T (p.Pro209Leu) single nucleotide variant Uncertain significance rs132630315 GRCh37 Chromosome X, 69247806: 69247806
40 EDA NM_001399.4(EDA): c.626C> T (p.Pro209Leu) single nucleotide variant Uncertain significance rs132630315 GRCh38 Chromosome X, 70027956: 70027956
41 EDA NM_001399.4(EDA): c.671G> C (p.Gly224Ala) single nucleotide variant Pathogenic rs132630316 GRCh37 Chromosome X, 69247851: 69247851
42 EDA NM_001399.4(EDA): c.671G> C (p.Gly224Ala) single nucleotide variant Pathogenic rs132630316 GRCh38 Chromosome X, 70028001: 70028001
43 EDA NM_001399.4(EDA): c.1045G> A (p.Ala349Thr) single nucleotide variant Pathogenic rs132630317 GRCh37 Chromosome X, 69255328: 69255328
44 EDA NM_001399.4(EDA): c.1045G> A (p.Ala349Thr) single nucleotide variant Pathogenic rs132630317 GRCh38 Chromosome X, 70035478: 70035478
45 EDA NM_001399.4(EDA): c.183C> G (p.Tyr61Ter) single nucleotide variant Pathogenic rs132630318 GRCh37 Chromosome X, 68836335: 68836335
46 EDA NM_001399.4(EDA): c.183C> G (p.Tyr61Ter) single nucleotide variant Pathogenic rs132630318 GRCh38 Chromosome X, 69616491: 69616491
47 EDA EDA, 36-BP DEL, EX5 deletion Pathogenic
48 EDA NM_001399.5(EDA): c.573_574insT (p.Gly192Trpfs) insertion Pathogenic GRCh38 Chromosome X, 70027903: 70027904
49 EDA NM_001399.5(EDA): c.573_574insT (p.Gly192Trpfs) insertion Pathogenic GRCh37 Chromosome X, 69247753: 69247754
50 EDA NM_001399.5(EDA): c.912_913dup (p.Ser305Ilefs) duplication Pathogenic GRCh38 Chromosome X, 70033516: 70033517

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 KEGG:

38
# Name Kegg Source Accession
1 Cytokine-cytokine receptor interaction hsa04060

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

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.81 CHUK EDA EDA2R EDAR EDARADD IKBKG
2
Show member pathways
12.62 CHUK EDA EDA2R EDAR IKBKG
3
Show member pathways
12.08 CHUK IKBKG IRAK4
4
Show member pathways
12.04 CHUK IKBKG IRAK4
5
Show member pathways
12.02 CHUK IKBKG IRAK4
6
Show member pathways
11.98 CHUK IKBKG IRAK4
7 11.96 CHUK IKBKG MSX1 WNT10A
8
Show member pathways
11.96 CHUK EDA EDA2R EDAR IKBKG IRAK4
9
Show member pathways
11.94 CHUK IKBKG IRAK4
10 11.58 CHUK IKBKG IRAK4
11
Show member pathways
11.25 CHUK FURIN IKBKG
12 11.07 CHUK IKBKG
13 10.92 CHUK IKBKG
14 10.9 CHUK IKBKG
15 10.87 CHUK IKBKG
16 10.86 CHUK IKBKG
17 10.8 CHUK IKBKG
18 10.51 CHUK IKBKG
19 10.4 EDA EDA2R EDAR EDARADD
20 10.32 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 8.62 CHUK IKBKG

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.95 EDA EDA2R EDAR EDARADD FOXI3 KDF1
2 multicellular organism development GO:0007275 9.86 EDA EDA2R EDAR EDARADD KDF1 MSX1
3 T cell receptor signaling pathway GO:0050852 9.69 CHUK ICOSLG IKBKG
4 odontogenesis of dentin-containing tooth GO:0042475 9.63 EDA EDAR MSX1
5 interleukin-1-mediated signaling pathway GO:0070498 9.58 CHUK IKBKG IRAK4
6 face morphogenesis GO:0060325 9.57 MSX1 PAX9
7 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.56 CHUK IKBKG
8 stress-activated MAPK cascade GO:0051403 9.55 CHUK IKBKG
9 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.55 CHUK EDA EDA2R IKBKG IRAK4
10 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.54 CHUK IKBKG
11 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.52 CHUK IKBKG
12 odontogenesis GO:0042476 9.5 MSX1 PAX9 WNT10A
13 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.49 CHUK IKBKG
14 salivary gland cavitation GO:0060662 9.43 EDA EDAR
15 regulation of odontogenesis GO:0042481 9.37 MSX1 PAX9
16 tumor necrosis factor-mediated signaling pathway GO:0033209 9.35 CHUK EDA EDA2R EDAR EDARADD
17 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.1 CHUK EDA EDA2R EDAR IKBKG IRAK4

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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