Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Skin diseases Oral diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Ectodermal dysplasia (anhidrotic)

Orphanet: ⁶⁰

Rare eye diseases

Rare skin diseases

Developmental anomalies during embryogenesis

Rare odontological diseases

External Ids:

Disease Ontology ¹² DOID:14793

OMIM ⁵⁸ 224900

KEGG ³⁸ H00651

MeSH ⁴⁵ D004476 D053358 D053360

NCIt ⁵¹ C84562

SNOMED-CT ⁶⁹ 4826006 7731005

ICD10 via Orphanet ³⁵ Q82.4

UMLS via Orphanet ⁷⁵ C0162359 C0406702 C1706004

Orphanet ⁶⁰ ORPHA238468

MedGen ⁴³ C0406702 C3887494

SNOMED-CT via HPO ⁷⁰ 111324004 14662005 16386004 more

UMLS ⁷⁴ C0162359 C0406702 C1720965 more

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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

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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:

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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

Sources

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

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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

Sources

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

Sources

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 )	Nakajima M...Abe R	2019
2	Two Japanese families with hypohidrotic ectodermal dysplasia: Phenotypic differences between affected individuals. ( 30125999 )	Okita T...Shimomura Y	2019
3	A de Novo EDA-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia. ( 30397018 )	Vasiliadis D...Distl O	2019
4	Variants of the ectodysplasin A1 receptor gene underlying homozygous cases of autosomal recessive hypohidrotic ectodermal dysplasia. ( 30623979 )	Wohlfart S...Schneider H	2019
5	Morphology of the Meibomian gland evaluated using meibography in patients with hypohidrotic ectodermal dysplasia. ( 30795945 )	Romero-Caballero MD...G?mez-Rivera S	2019
6	Prenatal Treatment of X-Linked Hypohidrotic Ectodermal Dysplasia using Recombinant Ectodysplasin in a Canine Model. ( 31000577 )	Margolis CA...Casal ML	2019
7	Role of ectodysplasin signalling in middle ear and nasal pathology in rat and mouse models of hypohidrotic ectodermal dysplasia. ( 31028034 )	Del-Pozo J...Cheeseman M	2019
8	Two EDA gene mutations in chinese patients with hypohidrotic ectodermal dysplasia. ( 29444360 )	Feng X...Qi M	2018
9	Hypohidrotic ectodermal dysplasia with strabismus. ( 29573265 )	Okubo A...Kanekura T	2018
10	A novel splicing mutation of ectodysplasin A gene responsible for hypohidrotic ectodermal dysplasia. ( 29676859 )	Liu G...Zhu J	2018
11	Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia: A systematic review. ( 29679503 )	Schnabl D...Kapferer-Seebacher I	2018
12	Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia. ( 29694819 )	Schneider H...Schneider P	2018
13	Hypohidrotic ectodermal dysplasia: clinical and molecular review. ( 29855039 )	Reyes-Reali J...Pozo-Molina G	2018
14	A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates. ( 29915774 )	Meshram GG...Hura KS	2018
15	Genetic diagnosis for X-linked hypohidrotic ectodermal dysplasia family with a novel Ectodysplasin A gene mutation. ( 30006944 )	Ma X...Chou HY	2018
16	[Combined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia]. ( 30067729 )	Pi?a-Aguilar RE...Guti?rrez-Guti?rrez AM	2018
17	Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia. ( 30079503 )	Ahmad F...Ahmad W	2018
18	Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia. ( 30117778 )	Liu Y...Zhang X	2018
19	Upper cervical spine and craniofacial morphology in hypohidrotic ectodermal dysplasia. ( 30128696 )	Sonnesen L...Daugaard-Jensen J	2018
20	Dental Management and Prosthetic Rehabilitation of Patients Suffering from Hypohidrotic Ectodermal Dysplasia: A Report of Two Case Histories. ( 30192347 )	Schnabl D...Kapferer-Seebacher I	2018
21	Clinical, radiographic, and genetic characteristics of hypohidrotic ectodermal dysplasia: A cross-sectional study. ( 30192988 )	Ngoc VTN...Nga VT	2018
22	A frameshift variant in the EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia. ( 30276836 )	Hadji Rasouliha S...Leeb T	2018
23	A rare cause of fever of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation. ( 30302989 )	Oguz MM...Senel S	2018
24	Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography. ( 30394555 )	Hammersen J...Faschingbauer F	2018
25	Hypohidrotic Ectodermal Dysplasia: A Rare Disorder with Bilateral Infantile Glaucoma. ( 30540672 )	Dubey S...Jain K	2018
26	Oral Care Program for Successful Long-Term Full Mouth Habilitation of Patients with Hypohidrotic Ectodermal Dysplasia. ( 30627453 )	Hsieh YL...Garcia Hammaker S	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 )	Niizeki H...Shimomura Y	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 )	Lei K...Chen Z	2018
29	The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia. ( 27168349 )	Chaudhary AK...Bashyam MD	2017
30	Hypohidrotic ectodermal dysplasia: A report of two cases. ( 27264909 )	Miyake T...Okuyama R	2017
31	Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia. ( 28045201 )	Monroy-Jaramillo N...Mor?n-Barroso VF	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 )	Xu XG...Chen HD	2017
33	Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development. ( 28553001 )	Wahlbuhl-Becker M...Schneider H	2017
34	Prosthetic rehabilitation in a pediatric patient with hypohidrotic ectodermal dysplasia: a case report. ( 28862593 )	Quintanilha LELP...Abreu FV	2017
35	X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation. ( 28877528 )	Savasta S...Marseglia GL	2017
36	Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis. ( 28981473 )	Zeng B...Yu D	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 )	Wu T...Zeng Y	2017
38	[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia]. ( 28097853 )	Callea M...Clarich G	2017
39	Tissue expansion for correction of alopecia in a child with hypohidrotic ectodermal dysplasia. ( 27177435 )	Mitsukawa N...Satoh K	2016
40	Molecular basis of hypohidrotic ectodermal dysplasia: an update. ( 26294279 )	Trzeciak WH...Koczorowski R	2016
41	A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia. ( 26440664 )	Wohlfart S...Schneider H	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 )	Chaudhary AK...Bashyam MD	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 )	Clarke A	2016
45	Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements. ( 27305980 )	Wohlfart S...Schneider H	2016
46	Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathology. ( 27378689 )	Azar A...Cheeseman M	2016
47	BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency. ( 27411570 )	Darbinyan A...Tsankova NM	2016
48	A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype. ( 27449516 )	Waluk DP...Galichet A	2016
49	Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients. ( 27657131 )	Zeng B...Zhao W	2016
50	Prosthetic Management of a Child with Hypohidrotic Ectodermal Dysplasia: 6-Year Follow-Up. ( 27822392 )	Pinto AS...Vasconcelos DF	2016

Sources

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

Genes related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive (3 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	EDAR	Ectodysplasin A Receptor	Protein Coding	1351.94	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Variants (show sections)	10431241 20301291 20199431 (more) 19551394 11374782 11570810 16251197 19504606 11035039 19804850 18231121 17970812 12351572 16029325 15373768 16435307 15013427 19438931 17501952 20033817
2	EDA	Ectodysplasin A	Protein Coding	531.17	Pathogenic ⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	8696334 20301291 9507389 (more) 9683615 9856856 12949972 9736768 17066260 19264582 19921643 11378824 19533796 12673367 18666859 12021844 17686277 19127222 19171226 9736768 12947561 17568423 20486090 15663448 11295832 17536268 15294294 11416205 15461765 18821982 9856856 11378824 17970812 17478381 15500155 12351572 11780064 18702659 18231121 17924345 12930312 12920369 12682853 11279189 19623212 19551394 11343303 19533784 12932274 10469321 19504606 19438931 18076698 18545687 17066260 19278982
3	EDARADD	EDAR Associated Death Domain	Protein Coding	530.74	Pathogenic ⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	20301291 20477971 17354266 (more) 20222921 19504606
4	IKBKG	Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma	Protein Coding	27.71	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	16379012 12651765 16228229 (more) 18313693 16532398 12351572 15577852 11047757 12192055 15358621 16547522
5	CHUK	Component Of Inhibitor Of Nuclear Factor Kappa B Kinase Complex	Protein Coding	22.83	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	14734108 14523047
6	FURIN	Furin, Paired Basic Amino Acid Cleaving Enzyme	Protein Coding	20.97	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	11416205
7	IRAK4	Interleukin 1 Receptor Associated Kinase 4	Protein Coding	17.59	Novoseek inferred ⁵⁶	14612669
8	EDA2R	Ectodysplasin A2 Receptor	Protein Coding	17.44	DISEASES inferred ¹⁵
9	ICOSLG	Inducible T Cell Costimulator Ligand	Protein Coding	16.87	DISEASES inferred ¹⁵ ¹⁵
10	KDF1	Keratinocyte Differentiation Factor 1	Protein Coding	16.49	DISEASES inferred ¹⁵
11	PAX9	Paired Box 9	Protein Coding	16.1	DISEASES inferred ¹⁵
12	FOXI3	Forkhead Box I3	Protein Coding	15.97	DISEASES inferred ¹⁵
13	WNT10A	Wnt Family Member 10A	Protein Coding	15.95	DISEASES inferred ¹⁵
14	MSX1	Msh Homeobox 1	Protein Coding	15.56	DISEASES inferred ¹⁵

Sources

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

Sources

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.

Sources

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	Cytokine Signaling in Immune system ⁶⁷ Show member pathways Signaling by Interleukins ⁶⁷	12.81	CHUK EDA EDA2R EDAR EDARADD IKBKG
2	Development Angiotensin activation of ERK ²³ Show member pathways Cell adhesion Integrin inside-out signaling ²³ Development ACM2 and ACM4 activation of ERK ²³ Development Angiotensin signaling via PYK2 ²³ Development EDNRB signaling ²³ Development EPO-induced MAPK pathway ²³ Development G-Proteins mediated regulation MARK-ERK signaling ²³ Signal transduction IP3 signaling ²³	12.62	CHUK EDA EDA2R EDAR IKBKG
3	IL-1 signaling pathway ¹ Show member pathways IL1-mediated signaling events ¹ Interleukin-1 signaling ⁶⁷ MAP3K8 (TPL2)-dependent MAPK1/3 activation ⁶⁷ Structural Pathway of Interleukin 1 (IL-1) ¹	12.08	CHUK IKBKG IRAK4
4	Diseases associated with the TLR signaling cascade ⁶⁷ Show member pathways Diseases of Immune System ⁶⁷ Interleukin-1 Induced Activation of NF-kappa-B ¹ IRAK1 recruits IKK complex ⁶⁷ IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation ⁶⁷ IRAK4 deficiency (TLR2/4) ⁶⁷ IRAK4 deficiency (TLR5) ⁶⁷ MyD88 deficiency (TLR2/4) ⁶⁷ MyD88 deficiency (TLR5) ⁶⁷ Simplified Depiction of MYD88 Distinct Input-Output Pathway ¹ TLR4 Signaling and Tolerance ¹ Toll-like Receptor Signaling ¹	12.04	CHUK IKBKG IRAK4
5	Toxoplasmosis ³⁸ Show member pathways Leishmaniasis ³⁸	12.02	CHUK IKBKG IRAK4
6	IL-1 Family Signaling Pathways ⁶⁶ Show member pathways Immune response IL-1 signaling pathway ²³ Mucin expression in CF via TLRs, EGFR signaling pathways ²³	11.98	CHUK IKBKG IRAK4
7	Human T-cell leukemia virus 1 infection ³⁸	11.96	CHUK IKBKG MSX1 WNT10A
8	TRAF Pathway ⁶⁵ Show member pathways 14-3-3 Induced Apoptosis ⁶⁵ TNF Superfamily Pathway ⁶⁵ Toll-Like Receptors Pathway ⁶⁵	11.96	CHUK EDA EDA2R EDAR IKBKG IRAK4
9	Bacterial infections in CF airways ²³ Show member pathways IL-1 beta-dependent CFTR expression ²³ Immune response Bacterial infections in normal airways ²³ Immune response TLR signaling pathways ²³	11.94	CHUK IKBKG IRAK4
10	NF-kappa B signaling pathway ³⁸	11.58	CHUK IKBKG IRAK4
11	p75(NTR)-mediated signaling ¹ Show member pathways Ceramide signalling ⁶⁷ NFG and proNGF binds to p75NTR ⁶⁷	11.25	CHUK FURIN IKBKG
12	Antifolate resistance ³⁸	11.07	CHUK IKBKG
13	EBV LMP1 signaling ¹	10.92	CHUK IKBKG
14	IKK complex recruitment mediated by RIP1 ⁶⁷	10.9	CHUK IKBKG
15	Canonical NF-kappaB pathway ¹	10.87	CHUK IKBKG
16	Estrogen signaling pathway ¹	10.86	CHUK IKBKG
17	NTHi-Induced Signaling ⁶⁵	10.8	CHUK IKBKG
18	MAPK and NFkB Signalling Pathways Inhibited by Yersinia YopJ ¹	10.51	CHUK IKBKG
19	TNFs bind their physiological receptors ⁶⁷	10.4	EDA EDA2R EDAR EDARADD
20	NLR Proteins ¹	10.32	CHUK IKBKG

Sources

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

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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

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¹⁶ DrugBank

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¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

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³⁷ IUPHAR

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⁴¹ LOVD

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⁴⁵ MeSH

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⁴⁷ MGI

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⁴⁹ NCBI Bookshelf

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⁷² TGDB

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⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

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

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

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

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

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

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

Diseases in the Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive family:

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

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

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):

Interventional clinical trials:

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:

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:

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

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

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

Genes related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive (3 elite genes):

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:

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

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

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:

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

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:

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

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