ECTD10B
MCID: ECT062
MIFTS: 70

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

Categories: Bone diseases, 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 57 75 13 73
Hypohidrotic Ectodermal Dysplasia 12 76 24 53 25 59 37 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 tooth agenesis, 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 Innate Immune System. Affiliated tissues include skin, eye and testes, and related phenotypes are frontal bossing and failure to thrive

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 : 25 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 : 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 top 50) (show all 121)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 1, hypohidrotic, x-linked 31.7 EDA EDA2R
2 tooth agenesis 31.6 EDA EDA2R EDAR EDARADD MSX1 PAX9
3 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 31.5 EDAR EDARADD KDF1 TRAF6
4 hypohidrosis 31.5 EDA EDAR EDARADD MSX1
5 hypohidrotic ectodermal dysplasia autosomal recessive 31.5 EDAR EDARADD WNT10A
6 hypotrichosis 31.4 EDA EDAR EDARADD WNT10A
7 clouston syndrome 31.3 EDA EDAR EDARADD WNT10A
8 anodontia 31.3 EDA EDARADD MSX1 PAX9
9 incontinentia pigmenti 30.1 CHUK EDAR IKBKG TRAF6
10 ectodermal dysplasia 30.0 CHUK EDA EDA2R EDAR EDARADD IKBKG
11 immunodeficiency without anhidrotic ectodermal dysplasia 12.7
12 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema 12.7
13 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 12.4
14 deafness with anhidrotic ectodermal dysplasia 12.3
15 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum 12.3
16 ectodermal dysplasia, hypohidrotic, with immune deficiency 11.8
17 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 11.7
18 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 11.7
19 craniofrontonasal syndrome 11.5
20 rapp-hodgkin syndrome 11.5
21 immunodeficiency 33 11.5
22 lelis syndrome 11.4
23 tooth agenesis, selective, x-linked, 1 11.3
24 viljoen winship syndrome 11.3
25 breasts and/or nipples, aplasia or hypoplasia of, 1 11.3
26 marshall syndrome 11.3
27 breasts and/or nipples, aplasia or hypoplasia of, 2 11.3
28 hypermobile ehlers-danlos syndrome 11.1
29 goodpasture syndrome 11.1
30 taurodontism 11.1
31 hypothyroidism, central, and testicular enlargement 11.1
32 emery-dreifuss muscular dystrophy 1, x-linked 11.1
33 acute proliferative glomerulonephritis 11.1
34 hepatic infarction 11.1
35 sweat gland disease 11.1
36 calcific tendinitis 11.1
37 seminal vesicle adenocarcinoma 11.1
38 orchitis 11.1
39 seminal vesicle tumor 11.1
40 anti-basement membrane glomerulonephritis 11.1
41 acute laryngitis 11.1
42 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 11.0
43 ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant 11.0
44 hypohidrotic ectodermal dysplasia with immunodeficiency 11.0
45 palmoplantar keratosis 10.5
46 ameloonychohypohidrotic syndrome 10.4
47 book syndrome 10.4
48 dermatopathia pigmentosa reticularis 10.4
49 dermoodontodysplasia 10.4
50 ectodermal dysplasia, trichoodontoonychial type 10.4

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, spontaneous, recurrent epistaxis, koilonychia

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 CHUK EDAR EDARADD FURIN IKBKG KDF1
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 CHUK EDAR EDARADD FURIN IKBKG KDF1
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 CHUK EDAR EDARADD FURIN IKBKG KDF1
9 hearing/vestibular/ear MP:0005377 9.93 CHUK EDARADD KDF1 MSX1 PAX9 TRAF6
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...

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 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, Testes, Bone, Breast, Liver, Spinal Cord

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 364)
# 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
Genetic diagnosis for X-linked hypohidrotic ectodermal dysplasia family with a novel Ectodysplasin A gene mutation. ( 30006944 )
2018
10
[Combined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia]. ( 30067729 )
2018
11
Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia. ( 30079503 )
2018
12
Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia. ( 30117778 )
2018
13
Two Japanese families with hypohidrotic ectodermal dysplasia: Phenotypic differences between affected individuals. ( 30125999 )
2018
14
Upper cervical spine and craniofacial morphology in hypohidrotic ectodermal dysplasia. ( 30128696 )
2018
15
Dental Management and Prosthetic Rehabilitation of Patients Suffering from Hypohidrotic Ectodermal Dysplasia: A Report of Two Case Histories. ( 30192347 )
2018
16
Clinical, radiographic, and genetic characteristics of hypohidrotic ectodermal dysplasia: A cross-sectional study. ( 30192988 )
2018
17
A frameshift variant in the EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia. ( 30276836 )
2018
18
A rare cause of fever of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation. ( 30302989 )
2018
19
Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography. ( 30394555 )
2018
20
A de Novo EDA-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia. ( 30397018 )
2018
21
Hypohidrotic Ectodermal Dysplasia: A Rare Disorder with Bilateral Infantile Glaucoma. ( 30540672 )
2018
22
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
23
Prosthetic rehabilitation in a pediatric patient with hypohidrotic ectodermal dysplasia: a case report. ( 28862593 )
2017
24
Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis. ( 28981473 )
2017
25
Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia. ( 28045201 )
2017
26
X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation. ( 28877528 )
2017
27
Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands. ( 28498389 )
2017
28
Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development. ( 28553001 )
2017
29
[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia]. ( 28097853 )
2017
30
Delayed-onset heat intolerance in a Japanese patient with X-linked hypohidrotic ectodermal dysplasia associated with a large deletion involving four genes. ( 28444782 )
2017
31
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
32
BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency. ( 27411570 )
2016
33
Anticipated stigma and blameless guilt: Mothers' evaluation of life with the sex-linked disorder, hypohidrotic ectodermal dysplasia (XHED). ( 27140840 )
2016
34
Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathology. ( 27378689 )
2016
35
The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia. ( 27168349 )
2016
36
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
37
Acquired Dermal Melanocytosis Occurring in a Patient with Hypohidrotic Ectodermal Dysplasia. ( 27904288 )
2016
38
Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients. ( 27657131 )
2016
39
Tissue expansion for correction of alopecia in a child with hypohidrotic ectodermal dysplasia. ( 27177435 )
2016
40
Image Gallery: Periorbital and temporal dermal melanocytosis of hypohidrotic ectodermal dysplasia. ( 27996143 )
2016
41
Prosthetic Management of a Child with Hypohidrotic Ectodermal Dysplasia: 6-Year Follow-Up. ( 27822392 )
2016
42
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements. ( 27305980 )
2016
43
A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype. ( 27449516 )
2016
44
Erratum: Dental management of hypohidrotic ectodermal dysplasia: A report of two cases. ( 27041918 )
2016
45
Hypohidrotic ectodermal dysplasia: A report of two cases. ( 27264909 )
2016
46
Dental Findings and Functional Prosthesis use in Child with Hypohidrotic Ectodermal Dysplasia: A Case Report. ( 30512258 )
2016
47
Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia. ( 26273176 )
2015
48
Identification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia. ( 26634545 )
2015
49
Novel missense mutation in the EDA1 gene identified in a family with hypohidrotic ectodermal dysplasia. ( 25626993 )
2015
50
Molecular basis of hypohidrotic ectodermal dysplasia: an update. ( 26294279 )
2015

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 283)
# 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 NM_001399.4(EDA): c.826C> T (p.Arg276Cys) single nucleotide variant Pathogenic rs387907197 GRCh37 Chromosome X, 69253280: 69253280
22 EDA NM_001399.4(EDA): c.826C> T (p.Arg276Cys) single nucleotide variant Pathogenic rs387907197 GRCh38 Chromosome X, 70033430: 70033430
23 EDA2R NM_021783.4(EDA2R): c.253delG (p.Asp85Thrfs) deletion Uncertain significance rs515726133 GRCh37 Chromosome X, 65824903: 65824903
24 EDA2R NM_021783.4(EDA2R): c.253delG (p.Asp85Thrfs) deletion Uncertain significance rs515726133 GRCh38 Chromosome X, 66605061: 66605061
25 EDA NM_001399.4(EDA): c.1094T> C (p.Val365Ala) single nucleotide variant Pathogenic/Likely pathogenic rs397516654 GRCh37 Chromosome X, 69255377: 69255377
26 EDA NM_001399.4(EDA): c.1094T> C (p.Val365Ala) single nucleotide variant Pathogenic/Likely pathogenic rs397516654 GRCh38 Chromosome X, 70035527: 70035527
27 EDA NM_001399.4(EDA): c.272_273insG (p.Ser91Argfs) duplication Pathogenic rs397516656 GRCh37 Chromosome X, 68836424: 68836424
28 EDA NM_001399.4(EDA): c.272_273insG (p.Ser91Argfs) duplication Pathogenic rs397516656 GRCh38 Chromosome X, 69616580: 69616580
29 EDA NM_001399.4(EDA): c.164T> A (p.Leu55Gln) single nucleotide variant Likely pathogenic rs397516657 GRCh37 Chromosome X, 68836316: 68836316
30 EDA NM_001399.4(EDA): c.164T> A (p.Leu55Gln) single nucleotide variant Likely pathogenic rs397516657 GRCh38 Chromosome X, 69616472: 69616472
31 EDA NM_001399.4(EDA): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs397516659 GRCh37 Chromosome X, 68836154: 68836154
32 EDA NM_001399.4(EDA): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs397516659 GRCh38 Chromosome X, 69616310: 69616310
33 EDA NM_001399.4(EDA): c.329C> A (p.Ser110Ter) single nucleotide variant Pathogenic rs397516660 GRCh37 Chromosome X, 68836481: 68836481
34 EDA NM_001399.4(EDA): c.329C> A (p.Ser110Ter) single nucleotide variant Pathogenic rs397516660 GRCh38 Chromosome X, 69616637: 69616637
35 EDA NM_001399.4(EDA): c.347T> A (p.Leu116Ter) single nucleotide variant Pathogenic rs397516661 GRCh37 Chromosome X, 68836499: 68836499
36 EDA NM_001399.4(EDA): c.347T> A (p.Leu116Ter) single nucleotide variant Pathogenic rs397516661 GRCh38 Chromosome X, 69616655: 69616655
37 EDA NM_001399.4(EDA): c.457C> T (p.Arg153Cys) single nucleotide variant Pathogenic rs397516662 GRCh37 Chromosome X, 69176937: 69176937
38 EDA NM_001399.4(EDA): c.457C> T (p.Arg153Cys) single nucleotide variant Pathogenic rs397516662 GRCh38 Chromosome X, 69957087: 69957087
39 EDA NM_001399.4(EDA): c.467G> T (p.Arg156Leu) single nucleotide variant Pathogenic rs132630314 GRCh37 Chromosome X, 69176947: 69176947
40 EDA NM_001399.4(EDA): c.467G> T (p.Arg156Leu) single nucleotide variant Pathogenic rs132630314 GRCh38 Chromosome X, 69957097: 69957097
41 EDA NM_001399.4(EDA): c.526+5G> T single nucleotide variant Likely pathogenic rs397516664 GRCh37 Chromosome X, 69243096: 69243096
42 EDA NM_001399.4(EDA): c.526+5G> T single nucleotide variant Likely pathogenic rs397516664 GRCh38 Chromosome X, 70023246: 70023246
43 EDA NM_001399.4(EDA): c.546_581del36 (p.Asn185_Pro196del) deletion Pathogenic rs397516665 GRCh37 Chromosome X, 69247726: 69247761
44 EDA NM_001399.4(EDA): c.546_581del36 (p.Asn185_Pro196del) deletion Pathogenic rs397516665 GRCh38 Chromosome X, 70027876: 70027911
45 EDA NM_001399.4(EDA): c.553_588del36 (p.Asn185_Pro196del) deletion Pathogenic rs397516666 GRCh37 Chromosome X, 69247733: 69247768
46 EDA NM_001399.4(EDA): c.553_588del36 (p.Asn185_Pro196del) deletion Pathogenic rs397516666 GRCh38 Chromosome X, 70027883: 70027918
47 EDA NM_001399.4(EDA): c.562_589del28 (p.Pro188Argfs) deletion Pathogenic rs397516667 GRCh37 Chromosome X, 69247742: 69247769
48 EDA NM_001399.4(EDA): c.562_589del28 (p.Pro188Argfs) deletion Pathogenic rs397516667 GRCh38 Chromosome X, 70027892: 70027919
49 EDA NM_001399.4(EDA): c.572_589del18 (p.Pro191_Pro196del) deletion Pathogenic rs397516668 GRCh37 Chromosome X, 69247752: 69247769
50 EDA NM_001399.4(EDA): c.572_589del18 (p.Pro191_Pro196del) deletion Pathogenic rs397516668 GRCh38 Chromosome X, 70027902: 70027919

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:

37
# 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 top 50) (show all 52)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 CHUK EDA EDA2R EDAR EDARADD IKBKG
2
Show member pathways
13.02 CHUK EDA EDA2R EDAR EDARADD IKBKG
3
Show member pathways
12.96 CHUK IKBKG IRAK4 TAB2 TRAF6
4
Show member pathways
12.92 CHUK IKBKG IRAK4 TAB2 TRAF6
5
Show member pathways
12.8 CHUK EDA EDA2R EDAR IKBKG TAB2
6 12.73 CHUK IKBKG TRAF6 WNT10A
7
Show member pathways
12.7 CHUK FURIN IKBKG IRAK4 TAB2 TRAF6
8 12.69 CHUK IKBKG IRAK4 TAB2 TRAF6
9
Show member pathways
12.61 CHUK IKBKG IRAK4 TRAF6
10 12.52 CHUK IKBKG IRAK4 TAB2 TRAF6
11
Show member pathways
12.38 CHUK IKBKG IRAK4 TAB2 TRAF6
12
Show member pathways
12.37 CHUK IKBKG TAB2 TRAF6
13
Show member pathways
12.37 CHUK IKBKG IRAK4 TAB2 TRAF6
14
Show member pathways
12.36 CHUK IKBKG TAB2 TRAF6
15
Show member pathways
12.36 CHUK IKBKG TAB2 TRAF6
16 12.35 CHUK IKBKG MSX1 WNT10A
17
Show member pathways
12.29 CHUK IKBKG TAB2 TRAF6
18
Show member pathways
12.26 CHUK IKBKG TAB2 TRAF6
19
Show member pathways
12.24 CHUK IKBKG IRAK4 TAB2 TRAF6
20
Show member pathways
12.23 CHUK IKBKG IRAK4 TAB2 TRAF6
21 12.21 CHUK IKBKG IRAK4 TAB2 TRAF6
22
Show member pathways
12.19 CHUK IKBKG TAB2 TRAF6
23 12.14 MSX1 PAX9 TAB2
24
Show member pathways
12.13 CHUK IKBKG IRAK4 TAB2 TRAF6
25
Show member pathways
12.11 CHUK FURIN TRAF6
26
Show member pathways
12.1 CHUK IKBKG IRAK4 TAB2 TRAF6
27
Show member pathways
12.06 CHUK IKBKG TRAF6
28 12.03 CHUK IKBKG TRAF6
29 12.01 CHUK IKBKG TAB2 TRAF6
30
Show member pathways
12.01 CHUK IKBKG IRAK4 TAB2 TRAF6
31 11.98 CHUK IKBKG TRAF6
32
Show member pathways
11.95 CHUK IKBKG TAB2 TRAF6
33
Show member pathways
11.94 CHUK IKBKG IRAK4 TAB2 TRAF6
34 11.9 CHUK IKBKG TAB2
35
Show member pathways
11.89 CHUK IKBKG TRAF6
36
Show member pathways
11.81 CHUK IKBKG TRAF6
37 11.81 CHUK IKBKG TRAF6
38
Show member pathways
11.76 CHUK EDA EDA2R EDAR IKBKG IRAK4
39
Show member pathways
11.68 CHUK IKBKG TRAF6
40
Show member pathways
11.6 CHUK FURIN IKBKG TRAF6
41 11.53 CHUK IKBKG TRAF6
42 11.33 CHUK IKBKG IRAK4 TAB2 TRAF6
43 11.2 CHUK IKBKG
44 11.17 TAB2 TRAF6
45 11.14 CHUK IKBKG TRAF6
46 11.13 CHUK IKBKG TRAF6
47 11.1 CHUK IKBKG TRAF6
48 11.06 CHUK IKBKG
49 11.02 CHUK IKBKG
50 10.93 EDA EDA2R EDAR EDARADD

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 9.92 CHUK EDA IKBKG TRAF6
2 T cell receptor signaling pathway GO:0050852 9.81 CHUK IKBKG TAB2 TRAF6
3 Fc-epsilon receptor signaling pathway GO:0038095 9.8 CHUK IKBKG TAB2 TRAF6
4 activation of MAPK activity GO:0000187 9.76 IKBKG TAB2 TRAF6
5 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.76 CHUK IKBKG TAB2 TRAF6
6 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.73 CHUK IKBKG TAB2 TRAF6
7 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.71 IRAK4 TAB2 TRAF6
8 odontogenesis GO:0042476 9.7 MSX1 PAX9 WNT10A
9 odontogenesis of dentin-containing tooth GO:0042475 9.67 EDA EDAR MSX1 TRAF6
10 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.65 IKBKG TAB2 TRAF6
11 tumor necrosis factor-mediated signaling pathway GO:0033209 9.65 CHUK EDA EDA2R EDAR EDARADD
12 face morphogenesis GO:0060325 9.63 MSX1 PAX9
13 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.62 CHUK IKBKG
14 JNK cascade GO:0007254 9.62 IKBKG IRAK4 TAB2 TRAF6
15 stress-activated MAPK cascade GO:0051403 9.61 CHUK IKBKG
16 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.6 CHUK IKBKG
17 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.59 CHUK IKBKG
18 toll-like receptor 9 signaling pathway GO:0034162 9.58 IRAK4 TRAF6
19 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.57 CHUK IKBKG
20 salivary gland cavitation GO:0060662 9.56 EDA EDAR
21 regulation of odontogenesis GO:0042481 9.55 MSX1 PAX9
22 interleukin-1-mediated signaling pathway GO:0070498 9.55 CHUK IKBKG IRAK4 TAB2 TRAF6
23 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.5 CHUK EDA EDA2R IKBKG IRAK4 TAB2
24 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.23 CHUK EDA EDA2R EDAR IKBKG IRAK4
25 cell differentiation GO:0030154 10.01 EDA EDA2R EDAR EDARADD KDF1
26 multicellular organism development GO:0007275 10.01 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
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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