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

MCID: ECT062 MIFTS: 67	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Fetal diseases, Oral diseases, Bone diseases
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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 ⁵⁷ ⁷⁵ ¹³ ⁷³

Hypohidrotic Ectodermal Dysplasia ¹² ⁷⁶ ²⁴ ⁵³ ²⁵ ⁵⁹ ²⁹ ⁶ ¹⁵

Christ-Siemens-Touraine Syndrome ¹² ²⁴ ⁵³ ²⁵ ⁷³

Hed ⁵⁷ ⁵³ ²⁵ ⁵⁹ ⁷⁵

Anhidrotic Ectodermal Dysplasia ²⁴ ⁵³ ²⁵ ⁵⁹

Hypohidrotic X-Linked Ectodermal Dysplasia ¹² ²⁹ ⁶

Ectodermal Dysplasia, Hypohidrotic ⁵⁷ ⁵³ ⁵⁵

Eda ⁵⁷ ⁵³ ⁷⁵

Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome ²⁹ ⁶

Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive ⁴⁴ ⁷³

Ectodermal Dysplasia Anhidrotic ⁵³ ⁷⁵

Ectd10b ⁵⁷ ⁷⁵

Dysplasia, Ectodermal, Type 10b, Hypohidrotic/hair/tooth, Autosomal Recessive ⁴⁰

Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive ⁷³

Ectodermal Dysplasia Hypohidrotic Autosomal Recessive ⁷⁵

X-Linked Hypohidrotic Ectodermal Dysplasia ⁵³

Hypohidrotic Ectodermal Dysplasia X-Linked ⁵³

Anhidrotic Ectodermal Dysplasia X-Linked ⁵³

Ectodermal Dysplasia, Hypohidrotic; Hed ⁵⁷

Ectodermal Dysplasia, Anhidrotic; Eda ⁵⁷

Dysplasia, Ectodermal, Hypohidrotic ⁴⁰

Ectodermal Dysplasia 1, Anhydrotic ¹²

Ectodermal Dysplasia 1, Anhidrotic ⁴⁴

Ectodermal Dysplasia 3, Anhidrotic ⁷³

Anhidrotic Ectodermal Dysplasia 3 ¹²

Ectodermal Dysplasia, Anhidrotic ⁵⁷

Ectodermal Dysplasia 1 ⁵³

Cst Syndrome ²⁵

Xhed ⁵³

Characteristics:

Orphanet epidemiological data:

⁵⁹

hypohidrotic ectodermal dysplasia
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

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

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Ectodermal dysplasia (anhidrotic)

Orphanet: ⁵⁹

Rare eye diseases

Rare skin diseases

Developmental anomalies during embryogenesis

Rare odontological diseases

External Ids:

OMIM ⁵⁷ 224900

Disease Ontology ¹² DOID:14793

MeSH ⁴⁴ D053358 D004476 D053360

NCIt ⁵⁰ C84562

SNOMED-CT ⁶⁸ 239007005 4826006 7731005

Orphanet ⁵⁹ ORPHA238468

UMLS via Orphanet ⁷⁴ C1706004 C0406702 C0162359

ICD10 via Orphanet ³⁴ Q82.4

MedGen ⁴² C3887494 C0406702

SNOMED-CT via HPO ⁶⁹ 258211005 52254009 300268000 more

UMLS ⁷³ C0162359 C3887494 C3539920 more

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

OMIM : ⁵⁷ Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011). For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see 305100. (224900)

MalaCards based summary : Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive, also known as hypohidrotic ectodermal dysplasia, is related to ectodermal dysplasia 1, hypohidrotic, x-linked and hypohidrotic ectodermal dysplasia autosomal recessive, and has symptoms including dyspnea, dry skin and koilonychia. An important gene associated with Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive is EDAR (Ectodysplasin A Receptor), and among its related pathways/superpathways are Innate Immune System and Toll-like Receptor Signaling Pathway. The drugs Anesthetics and Anesthetics, Local have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related phenotypes are frontal bossing and failure to thrive

Disease Ontology : ¹² A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).

Genetics Home Reference : ²⁵ Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands.

NIH Rare Diseases : ⁵³ Hypohidrotic ectodermal dysplasia (HED) is a genetic skin disease. Common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. HED is caused by mutations in the EDA, EDAR, or EDARADD genes. It may be inherited in an X-linked recessive, autosomal recessive, or autosomal dominant manner depending on the genetic cause of the condition. The X-linked form is the most common form. The forms have similar signs and symptoms, however the the autosomal dominant form tends to be the mildest. Treatment of hypohidrotic ectodermal dysplasia may include special hair care formulas or wigs, measures to prevent overheating, removal of ear and nose concretions, and dental evaluations and treatment (e.g., restorations, dental implants, or dentures).

UniProtKB/Swiss-Prot : ⁷⁵ Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive: A disorder due to abnormal development of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands.

Wikipedia : ⁷⁶ Hypohidrotic ectodermal dysplasia (also known as \"anhidrotic ectodermal dysplasia\", and... more...

GeneReviews: NBK1112

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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 all 23)

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

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

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Face:
frontal bossing

Skin Nails Hair Skin:
hypohidrosis
anhidrosis

Metabolic Features:
intolerance to heat and fever

Head And Neck Eyes:
periorbital wrinkles
periorbital hyperpigmentation

Head And Neck Teeth:
microdontia
hypodontia
anodontia
misshapen teeth

Skin Nails Hair Hair:
hypotrichosis
sparse eyelashes and eyebrows

Head And Neck Mouth:
prominent lips

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

Clinical features from OMIM:

224900

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

⁵⁹ ³² (show top 50) (show all 52)

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

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

dyspnea, dry skin, koilonychia, spontaneous, recurrent epistaxis

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

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Downregulation of NF-kappaB pathway after TNFalpha stimulation	GR00199-A-2	8.8	CHUK IKBKG TRAF6

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

⁴⁶ (show all 13)

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

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

Drugs for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

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

Interventional clinical trials:

(show all 19)

#	Name	Status	NCT ID	Phase	Drugs
1	Pivotal Study (Pharmacokinetics, Efficacy, Safety) of BAX 326 (rFIX) in Hemophilia B Patients	Completed	NCT01174446	Phase 3
2	Phase 2 Study to Evaluate Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200 in Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)	Completed	NCT01775462	Phase 2	EDI200
3	A Phase 1, Open-label, Multicenter, Safety and Pharmacokinetic Study of EDI200	Completed	NCT01564225	Phase 1	EDI200
4	Sonography in Hypotension and Cardiac Arrest in the Emergency Department.	Unknown status	NCT01419106	Not Applicable
5	Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation	Completed	NCT01386775
6	Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - A	Completed	NCT01293565
7	Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype	Completed	NCT01398397
8	Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012)	Completed	NCT01629927
9	Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia: Evaluation of an Early Diagnosis Technology and Tests to Assess Nutritional Status	Completed	NCT01629940
10	X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction Survey	Completed	NCT01398813
11	Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia	Completed	NCT01109290
12	Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia	Completed	NCT01135888
13	Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia	Completed	NCT01308333
14	Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia	Completed	NCT02099552
15	Phenotypic Properties in Individuals Affected With XLHED	Completed	NCT01871714
16	Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia	Completed	NCT01108770
17	Sweat Duct Imaging in Mother/Newborn Dyads	Completed	NCT01342133
18	EDICT - Exercise inDuced Changes In Colorectal Cancer Tissues	Completed	NCT02056691	Not Applicable
19	Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002	Active, not recruiting	NCT01992289		EDI200

Search NIH Clinical Center for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive

Cochrane evidence based reviews: ectodermal dysplasia 1, anhidrotic

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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 ²⁹	EDA
2	Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome ²⁹	EDAR EDARADD
3	Hypohidrotic Ectodermal Dysplasia ²⁹

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

MalaCards organs/tissues related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

⁴¹

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

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 342)

#	Title	Authors	Year
1	A novel splicing mutation of ectodysplasin A gene responsible for hypohidrotic ectodermal dysplasia. ( 29676859 )	Liu G....Zhu J.	2018
2	Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia: A systematic review. ( 29679503 )	Schnabl D....Kapferer-Seebacher I.	2018
3	A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates. ( 29915774 )	Meshram G.G....Hura K.S.	2018
4	Two EDA Gene Mutations in Chinese Patients with Hypohidrotic Ectodermal Dysplasia. ( 29444360 )	FENG X....Qi M.	2018
5	Hypohidrotic ectodermal dysplasia with strabismus. ( 29573265 )	Okubo A....Kanekura T.	2018
6	Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia. ( 29694819 )	Schneider H....Schneider P.	2018
7	Two cases of hypohidrotic ectodermal dysplasia caused by novel deletion mutations in the EDA gene. ( 29905390 )	Nakajima M....Abe R.	2018
8	Hypohidrotic ectodermal dysplasia: clinical and molecular review. ( 29855039 )	Reyes-Reali J....Pozo-Molina G.	2018
9	First report on an X-linked hypohidrotic ectodermal dysplasia family with X chromosome inversion: Breakpoint mapping reveals the pathogenic mechanism and preimplantation genetics diagnosis achieves an unaffected birth. ( 29037841 )	Wu T....Zeng Y.	2017
10	Prosthetic rehabilitation in a pediatric patient with hypohidrotic ectodermal dysplasia: a case report. ( 28862593 )	Quintanilha L.E.L.P....Abreu F.V.	2017
11	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
12	Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia. ( 28045201 )	Monroy-Jaramillo N....MorA!n-Barroso V.F.	2017
13	X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation. ( 28877528 )	Savasta S....Marseglia G.L.	2017
14	Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands. ( 28498389 )	Xu X.G....Chen H.D.	2017
15	Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development. ( 28553001 )	Wahlbuhl-Becker M....Schneider H.	2017
16	[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia]. ( 28097853 )	Callea M....Clarich G.	2017
17	Delayed-onset heat intolerance in a Japanese patient with X-linked hypohidrotic ectodermal dysplasia associated with a large deletion involving four genes. ( 28444782 )	Niizeki H....Shimomura Y.	2017
18	A novel 1-bp deletion mutation and extremely skewed X-chromosome inactivation causing severe X-linked hypohidrotic ectodermal dysplasia in a Chinese girl. ( 28940425 )	Lei K....Chen Z.	2017
19	BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency. ( 27411570 )	Darbinyan A....Tsankova N.M.	2016
20	Anticipated stigma and blameless guilt: Mothers' evaluation of life with the sex-linked disorder, hypohidrotic ectodermal dysplasia (XHED). ( 27140840 )	Clarke A.	2016
21	Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathology. ( 27378689 )	Azar A....Cheeseman M.	2016
22	The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia. ( 27168349 )	Chaudhary A.K....Bashyam M.D.	2016
23	A novel EDARADD 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia. ( 26991760 )	Chaudhary A.K....Bashyam M.D.	2016
24	Acquired Dermal Melanocytosis Occurring in a Patient with Hypohidrotic Ectodermal Dysplasia. ( 27904288 )	Hyun D.J....Lee H.J.	2016
25	Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients. ( 27657131 )	Zeng B....Zhao W.	2016
26	Tissue expansion for correction of alopecia in a child with hypohidrotic ectodermal dysplasia. ( 27177435 )	Mitsukawa N....Satoh K.	2016
27	Image Gallery: Periorbital and temporal dermal melanocytosis of hypohidrotic ectodermal dysplasia. ( 27996143 )	Namiki T....Yokozeki H.	2016
28	Prosthetic Management of a Child with Hypohidrotic Ectodermal Dysplasia: 6-Year Follow-Up. ( 27822392 )	Pinto A.S....Vasconcelos D.F.	2016
29	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
30	A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype. ( 27449516 )	Waluk D.P....Galichet A.	2016
31	Erratum: Dental management of hypohidrotic ectodermal dysplasia: A report of two cases. ( 27041918 )		2016
32	Hypohidrotic ectodermal dysplasia: A report of two cases. ( 27264909 )	Miyake T....Okuyama R.	2016
33	Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia. ( 26273176 )	Salas-Alanis J.C....Barrera SaldaA+a H.A.	2015
34	Identification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia. ( 26634545 )	Xue J.J....Wu L.Q.	2015
35	Novel missense mutation in the EDA1 gene identified in a family with hypohidrotic ectodermal dysplasia. ( 25626993 )	Pozo-Molina G....MAcndez-Cruz A.R.	2015
36	Molecular basis of hypohidrotic ectodermal dysplasia: an update. ( 26294279 )	Trzeciak W.H....Koczorowski R.	2015
37	HYPOHIDROTIC ECTODERMAL DYSPLASIA. ( 27004366 )	Bajpai M....Pardhe N.	2015
38	Perinatal Autopsy Findings in a Case of De Novo Hypohidrotic Ectodermal Dysplasia. ( 26417167 )	Chikkannaiah P....Gosavi M.	2015
39	Lower lid ectropion in hypohidrotic ectodermal dysplasia. ( 25802783 )	Zhang X....Zhang H.	2015
40	Dental management of hypohidrotic ectodermal dysplasia: A report of two cases. ( 26321846 )	Mittal M....Sharma P.	2015
41	Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation. ( 25684924 )	Goyal M....Kapoor S.	2015
42	A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia. ( 26440664 )	Wohlfart S....Schneider H.	2015
43	Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation. ( 26411740 )	Zeng B....Zhao W.	2015
44	Dental Implant Therapy for a Child with X-linked Hypohidrotic Ectodermal Dysplasia--Three Decades of Managed Care. ( 26218015 )	Bergendal B....Koch G.	2015
45	Hypohidrotic ectodermal dysplasia. ( 25821743 )	Shanbhag V.K.	2015
46	Hypohidrotic Ectodermal Dysplasia. ( 26843773 )	Singh G.P....Saxena V.	2015
47	EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature. ( 26345974 )	Huang S.X....Ou M.L.	2015
48	A novel missense mutation in collagenous domain of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia. ( 25846883 )	Li D....Ma J.	2015
49	False-Negative Sweat Chloride Testing in a Child With Cystic Fibrosis and Undiagnosed Hypohidrotic Ectodermal Dysplasia. ( 24419263 )	Welsh S.K....Pinsker J.E.	2014
50	A retrospective 3- to 5-year study of the reconstruction of oral function using implant-supported prostheses in patients with hypohidrotic ectodermal dysplasia. ( 25295888 )	Zou D....Zhang Z.	2014

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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	1352.07	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ 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	556.04	Pathogenic ⁶ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	20301291 12673367 18666859 (more) 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	530.8	Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	20301291 20477971 17354266 (more) 20222921 19504606
4	IKBKG	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Gamma	Protein Coding	27.87	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	16379012 12651765 16228229 (more) 18313693 16532398 12351572 15577852 11047757 12192055 15358621 16547522
5	CHUK	Conserved Helix-Loop-Helix Ubiquitous Kinase	Protein Coding	22.92	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	14734108 14523047
6	FURIN	Furin, Paired Basic Amino Acid Cleaving Enzyme	Protein Coding	21.04	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	11416205
7	IRAK4	Interleukin 1 Receptor Associated Kinase 4	Protein Coding	17.59	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	14612669
8	EDA2R	Ectodysplasin A2 Receptor	Protein Coding	17.48	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	KDF1	Keratinocyte Differentiation Factor 1	Protein Coding	16.93	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	WNT10A	Wnt Family Member 10A	Protein Coding	16.18	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	PAX9	Paired Box 9	Protein Coding	16.13	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	MSX1	Msh Homeobox 1	Protein Coding	15.6	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
13	TRAF6	TNF Receptor Associated Factor 6	Protein Coding	15.46	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
14	TAB2	TGF-Beta Activated Kinase 1 (MAP3K7) Binding Protein 2	Protein Coding	15.2	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

⁷⁵ (show all 17)

#	Symbol	AA change	Variation ID	SNP ID
1	EDAR	p.Cys87Arg	VAR_013448	rs121908451
2	EDAR	p.Arg89His	VAR_013449	rs121908450
3	EDAR	p.Arg420Gln	VAR_013450	rs121908453
4	EDAR	p.Cys47Tyr	VAR_054444	rs778903951
5	EDAR	p.Asp110Ala	VAR_054445	rs121908455
6	EDAR	p.Cys148Arg	VAR_054446
7	EDAR	p.Arg375His	VAR_054447	rs121908454
8	EDAR	p.Leu377Phe	VAR_054448
9	EDAR	p.Gly382Ser	VAR_054449	rs747806672
10	EDAR	p.Thr403Met	VAR_054450
11	EDAR	p.Thr413Pro	VAR_054451
12	EDAR	p.Ile418Thr	VAR_054452
13	EDAR	p.Trp434Cys	VAR_054453	rs528478080
14	EDAR	p.Arg98Gln	VAR_064830	rs144473052
15	EDAR	p.Arg358Gln	VAR_064831	rs886039564
16	EDAR	p.Ile408Phe	VAR_064833
17	EDAR	p.Trp434Arg	VAR_064834	rs773885029

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

⁶

(show top 50) (show all 243)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	EDARADD	NM_080738.3(EDARADD): c.424G> A (p.Glu142Lys)	single nucleotide variant	Pathogenic	rs74315309	GRCh37	Chromosome 1, 236645755: 236645755
2	EDARADD	NM_080738.3(EDARADD): c.424G> A (p.Glu142Lys)	single nucleotide variant	Pathogenic	rs74315309	GRCh38	Chromosome 1, 236482455: 236482455
3	EDAR	EDAR, 18-BP DEL, IVS2	deletion	Pathogenic
4	EDAR	NM_022336.3(EDAR): c.266G> A (p.Arg89His)	single nucleotide variant	Pathogenic	rs121908450	GRCh37	Chromosome 2, 109545744: 109545744
5	EDAR	NM_022336.3(EDAR): c.266G> A (p.Arg89His)	single nucleotide variant	Pathogenic	rs121908450	GRCh38	Chromosome 2, 108929288: 108929288
6	EDAR	EDAR, DEL	deletion	Pathogenic
7	EDAR	NM_022336.3(EDAR): c.259T> C (p.Cys87Arg)	single nucleotide variant	Pathogenic	rs121908451	GRCh37	Chromosome 2, 109545751: 109545751
8	EDAR	NM_022336.3(EDAR): c.259T> C (p.Cys87Arg)	single nucleotide variant	Pathogenic	rs121908451	GRCh38	Chromosome 2, 108929295: 108929295
9	EDAR	NM_022336.3(EDAR): c.1072C> T (p.Arg358Ter)	single nucleotide variant	Pathogenic	rs121908452	GRCh37	Chromosome 2, 109513638: 109513638
10	EDAR	NM_022336.3(EDAR): c.1072C> T (p.Arg358Ter)	single nucleotide variant	Pathogenic	rs121908452	GRCh38	Chromosome 2, 108897182: 108897182
11	EDAR	NM_022336.3(EDAR): c.51+1G> A	single nucleotide variant	Pathogenic	rs797044435	GRCh37	Chromosome 2, 109547419: 109547419
12	EDAR	NM_022336.3(EDAR): c.51+1G> A	single nucleotide variant	Pathogenic	rs797044435	GRCh38	Chromosome 2, 108930963: 108930963
13	EDAR	NM_022336.3(EDAR): c.1124G> A (p.Arg375His)	single nucleotide variant	Pathogenic	rs121908454	GRCh37	Chromosome 2, 109513586: 109513586
14	EDAR	NM_022336.3(EDAR): c.1124G> A (p.Arg375His)	single nucleotide variant	Pathogenic	rs121908454	GRCh38	Chromosome 2, 108897130: 108897130
15	EDAR	NM_022336.3(EDAR): c.329A> C (p.Asp110Ala)	single nucleotide variant	Pathogenic	rs121908455	GRCh37	Chromosome 2, 109545681: 109545681
16	EDAR	NM_022336.3(EDAR): c.329A> C (p.Asp110Ala)	single nucleotide variant	Pathogenic	rs121908455	GRCh38	Chromosome 2, 108929225: 108929225
17	EDAR	NM_022336.3(EDAR): c.719_722delAAGA (p.Lys240Argfs)	deletion	Pathogenic	rs797044436	GRCh37	Chromosome 2, 109527240: 109527243
18	EDAR	NM_022336.3(EDAR): c.719_722delAAGA (p.Lys240Argfs)	deletion	Pathogenic	rs797044436	GRCh38	Chromosome 2, 108910784: 108910787
19	EDAR	NM_022336.3(EDAR): c.803+1G> A	single nucleotide variant	Pathogenic	rs797044437	GRCh38	Chromosome 2, 108910459: 108910459
20	EDAR	NM_022336.3(EDAR): c.803+1G> A	single nucleotide variant	Pathogenic	rs797044437	GRCh37	Chromosome 2, 109526915: 109526915
21	EDA	EDA, 36-BP DEL, EX5	deletion	Pathogenic
22	EDA	NM_001399.4(EDA): c.181T> C (p.Tyr61His)	single nucleotide variant	Likely pathogenic	rs132630308	GRCh37	Chromosome X, 68836333: 68836333
23	EDA	NM_001399.4(EDA): c.181T> C (p.Tyr61His)	single nucleotide variant	Likely pathogenic	rs132630308	GRCh38	Chromosome X, 69616489: 69616489
24	EDA	NM_001399.4(EDA): c.67C> T (p.Gln23Ter)	single nucleotide variant	Pathogenic	rs132630310	GRCh37	Chromosome X, 68836219: 68836219
25	EDA	NM_001399.4(EDA): c.67C> T (p.Gln23Ter)	single nucleotide variant	Pathogenic	rs132630310	GRCh38	Chromosome X, 69616375: 69616375
26	EDA	NM_001399.4(EDA): c.187G> A (p.Glu63Lys)	single nucleotide variant	Pathogenic	rs132630311	GRCh37	Chromosome X, 68836339: 68836339
27	EDA	NM_001399.4(EDA): c.187G> A (p.Glu63Lys)	single nucleotide variant	Pathogenic	rs132630311	GRCh38	Chromosome X, 69616495: 69616495
28	EDA	NM_001399.4(EDA): c.463C> T (p.Arg155Cys)	single nucleotide variant	Pathogenic	rs132630312	GRCh37	Chromosome X, 69176943: 69176943
29	EDA	NM_001399.4(EDA): c.463C> T (p.Arg155Cys)	single nucleotide variant	Pathogenic	rs132630312	GRCh38	Chromosome X, 69957093: 69957093
30	EDA	NM_001399.4(EDA): c.466C> T (p.Arg156Cys)	single nucleotide variant	Pathogenic	rs132630313	GRCh37	Chromosome X, 69176946: 69176946
31	EDA	NM_001399.4(EDA): c.466C> T (p.Arg156Cys)	single nucleotide variant	Pathogenic	rs132630313	GRCh38	Chromosome X, 69957096: 69957096
32	EDA	NM_001399.4(EDA): c.467G> A (p.Arg156His)	single nucleotide variant	Pathogenic	rs132630314	GRCh37	Chromosome X, 69176947: 69176947
33	EDA	NM_001399.4(EDA): c.467G> A (p.Arg156His)	single nucleotide variant	Pathogenic	rs132630314	GRCh38	Chromosome X, 69957097: 69957097
34	EDA	NM_001399.4(EDA): c.671G> C (p.Gly224Ala)	single nucleotide variant	Pathogenic	rs132630316	GRCh37	Chromosome X, 69247851: 69247851
35	EDA	NM_001399.4(EDA): c.671G> C (p.Gly224Ala)	single nucleotide variant	Pathogenic	rs132630316	GRCh38	Chromosome X, 70028001: 70028001
36	EDA	NM_001399.4(EDA): c.1045G> A (p.Ala349Thr)	single nucleotide variant	Pathogenic	rs132630317	GRCh37	Chromosome X, 69255328: 69255328
37	EDA	NM_001399.4(EDA): c.1045G> A (p.Ala349Thr)	single nucleotide variant	Pathogenic	rs132630317	GRCh38	Chromosome X, 70035478: 70035478
38	EDA	NM_001399.4(EDA): c.183C> G (p.Tyr61Ter)	single nucleotide variant	Pathogenic	rs132630318	GRCh37	Chromosome X, 68836335: 68836335
39	EDA	NM_001399.4(EDA): c.183C> G (p.Tyr61Ter)	single nucleotide variant	Pathogenic	rs132630318	GRCh38	Chromosome X, 69616491: 69616491
40	EDA	EDA, 1-BP DEL, EX6	deletion	Pathogenic
41	EDA	EDA, 1-BP INS, 573T	insertion	Pathogenic
42	EDA	EDA, 2-BP INS, 913TA	insertion	Pathogenic
43	EDA	NM_001399.4(EDA): c.826C> T (p.Arg276Cys)	single nucleotide variant	Pathogenic	rs387907197	GRCh37	Chromosome X, 69253280: 69253280
44	EDA	NM_001399.4(EDA): c.826C> T (p.Arg276Cys)	single nucleotide variant	Pathogenic	rs387907197	GRCh38	Chromosome X, 70033430: 70033430
45	EDA	NM_001399.4(EDA): c.1094T> C (p.Val365Ala)	single nucleotide variant	Pathogenic/Likely pathogenic	rs397516654	GRCh37	Chromosome X, 69255377: 69255377
46	EDA	NM_001399.4(EDA): c.1094T> C (p.Val365Ala)	single nucleotide variant	Pathogenic/Likely pathogenic	rs397516654	GRCh38	Chromosome X, 70035527: 70035527
47	EDA	NM_001399.4(EDA): c.272_273insG (p.Ser91Argfs)	duplication	Pathogenic	rs397516656	GRCh37	Chromosome X, 68836424: 68836424
48	EDA	NM_001399.4(EDA): c.272_273insG (p.Ser91Argfs)	duplication	Pathogenic	rs397516656	GRCh38	Chromosome X, 69616580: 69616580
49	EDA	NM_001399.4(EDA): c.164T> A (p.Leu55Gln)	single nucleotide variant	Likely pathogenic	rs397516657	GRCh37	Chromosome X, 68836316: 68836316
50	EDA	NM_001399.4(EDA): c.164T> A (p.Leu55Gln)	single nucleotide variant	Likely pathogenic	rs397516657	GRCh38	Chromosome X, 69616472: 69616472

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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.

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

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

(show all 49)

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.93	CHUK EDA EDA2R EDAR EDARADD IKBKG
2	Toll-like Receptor Signaling Pathway ³⁷ ¹ Show member pathways Chagas disease (American trypanosomiasis) ³⁷ NOD-like receptor signaling pathway ³⁷ NOD-like Receptor Signaling Pathways ⁶⁵ Regulation of toll-like receptor signaling pathway ¹	12.93	CHUK IKBKG IRAK4 TAB2 TRAF6
3	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	12.92	CHUK EDA EDA2R EDAR EDARADD IKBKG
4	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.83	CHUK EDA EDA2R EDAR IKBKG TAB2
5	Influenza A ³⁷ Show member pathways Herpes simplex infection ³⁷ Measles ³⁷	12.7	CHUK FURIN IKBKG IRAK4 TAB2 TRAF6
6	MAPK signaling pathway ¹ ³⁷	12.68	CHUK IKBKG IRAK4 TAB2 TRAF6
7	NF-KappaB Family Pathway ⁶⁴ Show member pathways NF-KappaB (p50-p65) Pathway ⁶⁴	12.61	CHUK IKBKG IRAK4 TRAF6
8	NF-kappaB Signaling ⁴	12.52	CHUK IKBKG IRAK4 TAB2 TRAF6
9	Development FGFR signaling pathway ²² Show member pathways Development FGF-family signaling ²² Development Flt3 signaling ²² FGF Pathway ⁶⁴	12.39	CHUK IKBKG IRAK4 TAB2 TRAF6
10	RANK Signaling in Osteoclasts ⁶⁴ Show member pathways Apoptosis and survival APRIL and BAFF signaling ²² APRIL Pathway ⁶⁴ BAFF in B-Cell Signaling ⁶⁴ RANK Pathway ⁶⁴ RANKL/RANK (Receptor activator of NFKB (ligand)) Signaling Pathway ¹	12.36	CHUK IKBKG TAB2 TRAF6
11	CLEC7A (Dectin-1) signaling ⁶⁶ Show member pathways Alternative NF-kappaB pathway ¹ CLEC7A/inflammasome pathway ⁶⁶ C-type lectin receptors (CLRs) ⁶⁶	12.36	CHUK IKBKG TAB2 TRAF6
12	Cytosolic sensors of pathogen-associated DNA ⁶⁶ Show member pathways DEx/H-box helicases activate type I IFN and inflammatory cytokines production ⁶⁶ IkBA variant leads to EDA-ID ⁶⁶ IKBKB deficiency causes SCID ⁶⁶ IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) ⁶⁶ IRF3 mediated activation of type 1 IFN ⁶⁶ IRF3-mediated induction of type I IFN ⁶⁶ LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production ⁶⁶ Regulation by TREX1 ⁶⁶ Regulation of innate immune responses to cytosolic DNA ⁶⁶ RIP-mediated NFkB activation via ZBP1 ⁶⁶ STAT6-mediated induction of chemokines ⁶⁶ STING mediated induction of host immune responses ⁶⁶ TAK1 activates NFkB by phosphorylation and activation of IKKs complex ⁶⁶ TRAF6 mediated NF-kB activation ⁶⁶ ZBP1(DAI) mediated induction of type I IFNs ⁶⁶	12.36	CHUK IKBKG TAB2 TRAF6
13	VEGF Pathway (Qiagen) ⁶⁴ Show member pathways CCKBR-Gastrin Stimulated Signaling ⁶⁴ Development VEGF-family signaling ²² Neurophilin interactions with VEGF and VEGFR ⁶⁶ VEGF Family Ligands and Receptor Interactions ⁶⁴	12.36	CHUK IKBKG IRAK4 TAB2 TRAF6
14	HTLV-I infection ³⁷	12.35	CHUK IKBKG MSX1 WNT10A
15	TRAF Pathway ⁶⁴ Show member pathways 14-3-3 Induced Apoptosis ⁶⁴ TNF Superfamily Pathway ⁶⁴ Toll-Like Receptors Pathway ⁶⁴	12.3	CHUK IKBKG IRAK4 TAB2 TRAF6
16	TCR signaling (REACTOME) ⁶⁶ Show member pathways TCR signaling ⁶⁶	12.28	CHUK IKBKG TAB2 TRAF6
17	IL-17 Family Signaling Pathways ⁶⁵ Show member pathways IL17 signaling pathway ¹ IL-17 signaling pathway ³⁷ Interleukin-17 signaling ⁶⁶ Mucin expression in CF via IL-6, IL-17 signaling pathways ²²	12.26	CHUK IKBKG TAB2 TRAF6
18	Epstein-Barr virus infection ³⁷	12.23	CHUK IKBKG TAB2 TRAF6
19	IL-1 signaling pathway ¹ Show member pathways IL1-mediated signaling events ¹ Interleukin-1 signaling ⁶⁶ MAP3K8 (TPL2)-dependent MAPK1/3 activation ⁶⁶ Structural Pathway of Interleukin 1 (IL-1) ¹	12.22	CHUK IKBKG IRAK4 TAB2 TRAF6
20	Diseases associated with the TLR signaling cascade ⁶⁶ Show member pathways Diseases of Immune System ⁶⁶ Interleukin-1 Induced Activation of NF-kappa-B ¹ IRAK1 recruits IKK complex ⁶⁶ IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation ⁶⁶ IRAK4 deficiency (TLR2/4) ⁶⁶ IRAK4 deficiency (TLR5) ⁶⁶ MyD88 deficiency (TLR2/4) ⁶⁶ MyD88 deficiency (TLR5) ⁶⁶ Simplified Depiction of MYD88 Distinct Input-Output Pathway ¹ TLR4 Signaling and Tolerance ¹ Toll-like Receptor Signaling ¹	12.17	CHUK IKBKG IRAK4 TAB2 TRAF6
21	Wnt / Hedgehog / Notch ⁴	12.14	MSX1 PAX9 TAB2
22	Toxoplasmosis ³⁷ Show member pathways Leishmaniasis ³⁷	12.13	CHUK IKBKG IRAK4 TAB2 TRAF6
23	Development NOTCH1-mediated pathway for NF-KB activity modulation ²² Show member pathways Development Notch Signaling Pathway ²² Transcription Sin3 and NuRD in transcription regulation ²²	12.1	CHUK FURIN TRAF6
24	NGF Pathway ⁶⁴ Show member pathways TRKA Signaling ⁶⁴	12.05	CHUK IKBKG TRAF6
25	IL-1 Family Signaling Pathways ⁶⁵ Show member pathways Immune response IL-1 signaling pathway ²² Mucin expression in CF via TLRs, EGFR signaling pathways ²²	12.05	CHUK IKBKG IRAK4 TAB2 TRAF6
26	Brain-Derived Neurotrophic Factor (BDNF) signaling pathway ¹	12.02	CHUK IKBKG TRAF6
27	Toll Comparative Pathway ⁶⁴ Show member pathways IL-1 Pathway ⁶⁴ Immune response MIF in innate immunity response ²² iNOS Signaling ⁶⁴ TLR-TRIF Pathway ⁶⁴	12.02	CHUK IKBKG IRAK4 TAB2 TRAF6
28	Osteoclast differentiation ³⁷	12.01	CHUK IKBKG TAB2 TRAF6
29	Hepatitis C ³⁷	11.97	CHUK IKBKG TRAF6
30	Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways ⁶⁶ Show member pathways Inflammasomes ⁶⁶ NOD1/2 Signaling Pathway ⁶⁶ The AIM2 inflammasome ⁶⁶ The NLRP1 inflammasome ⁶⁶ The NLRP3 inflammasome ⁶⁶	11.95	CHUK IKBKG TAB2 TRAF6
31	TCR signaling in naive CD4+ T cells ¹ Show member pathways TCR signaling in naive CD8+ T cells ¹	11.88	CHUK IKBKG TRAF6
32	TNF signaling pathway ³⁷	11.88	CHUK IKBKG TAB2
33	Bacterial infections in CF airways ²² Show member pathways IL-1 beta-dependent CFTR expression ²² Immune response Bacterial infections in normal airways ²² Immune response TLR signaling pathways ²²	11.87	CHUK IKBKG IRAK4 TAB2 TRAF6
34	Cytokine production by Th17 cells in CF (Mouse model) ²² Show member pathways Cytokine production by Th17 cells in CF ²²	11.81	CHUK IKBKG TRAF6
35	Small cell lung cancer ³⁷	11.81	CHUK IKBKG TRAF6
36	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway ²² Show member pathways Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway ²²	11.68	CHUK IKBKG TRAF6
37	p75(NTR)-mediated signaling ¹ Show member pathways Ceramide signalling ⁶⁶ NFG and proNGF binds to p75NTR ⁶⁶	11.6	CHUK FURIN IKBKG TRAF6
38	Transcription_NF-kB signaling pathway ²²	11.52	CHUK IKBKG TRAF6
39	Antifolate resistance ³⁷	11.2	CHUK IKBKG
40	p38 MAPK signaling pathway (Pathway Interaction Database) ¹	11.16	TAB2 TRAF6
41	EBV LMP1 signaling ¹	11.12	CHUK IKBKG TRAF6
42	IKK complex recruitment mediated by RIP1 ⁶⁶	11.11	CHUK IKBKG TRAF6
43	Canonical NF-kappaB pathway ¹	11.09	CHUK IKBKG TRAF6
44	Estrogen signaling pathway ¹	11.05	CHUK IKBKG
45	NTHi-Induced Signaling ⁶⁴	11.01	CHUK IKBKG
46	NF-kappa B signaling pathway ³⁷	11	CHUK IKBKG IRAK4 TAB2 TRAF6
47	TNFs bind their physiological receptors ⁶⁶	10.73	EDA EDA2R EDAR EDARADD
48	MAPK and NFkB Signalling Pathways Inhibited by Yersinia YopJ ¹	10.69	CHUK IKBKG TRAF6
49	NLR Proteins ¹	10.61	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	CD40 receptor complex	GO:0035631	9.16	CHUK TRAF6
2	IkappaB kinase complex	GO:0008385	8.96	CHUK IKBKG
3	endosome membrane	GO:0010008	8.92	FURIN IRAK4 TAB2 TRAF6

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

(show all 26)

#	Name	GO ID	Score	Top Affiliating Genes
1	immune response	GO:0006955	9.91	CHUK EDA IKBKG TRAF6
2	Fc-epsilon receptor signaling pathway	GO:0038095	9.85	CHUK IKBKG TAB2 TRAF6
3	T cell receptor signaling pathway	GO:0050852	9.83	CHUK IKBKG TAB2 TRAF6
4	stimulatory C-type lectin receptor signaling pathway	GO:0002223	9.78	CHUK IKBKG TAB2 TRAF6
5	activation of MAPK activity	GO:0000187	9.75	IKBKG TAB2 TRAF6
6	I-kappaB kinase/NF-kappaB signaling	GO:0007249	9.73	CHUK IKBKG TAB2 TRAF6
7	tumor necrosis factor-mediated signaling pathway	GO:0033209	9.72	CHUK EDA EDA2R EDAR EDARADD
8	odontogenesis of dentin-containing tooth	GO:0042475	9.71	EDA EDAR MSX1 TRAF6
9	odontogenesis	GO:0042476	9.69	MSX1 PAX9 WNT10A
10	MyD88-dependent toll-like receptor signaling pathway	GO:0002755	9.67	IRAK4 TAB2 TRAF6
11	JNK cascade	GO:0007254	9.67	IKBKG IRAK4 TAB2 TRAF6
12	interleukin-1-mediated signaling pathway	GO:0070498	9.65	CHUK IKBKG IRAK4 TAB2 TRAF6
13	regulation of I-kappaB kinase/NF-kappaB signaling	GO:0043122	9.63	IKBKG TRAF6
14	regulation of tumor necrosis factor-mediated signaling pathway	GO:0010803	9.62	CHUK IKBKG
15	face morphogenesis	GO:0060325	9.62	MSX1 PAX9
16	TRIF-dependent toll-like receptor signaling pathway	GO:0035666	9.61	CHUK IKBKG
17	tissue development	GO:0009888	9.6	EDA2R EDAR
18	stress-activated MAPK cascade	GO:0051403	9.59	CHUK IKBKG
19	MyD88-independent toll-like receptor signaling pathway	GO:0002756	9.58	CHUK IKBKG
20	toll-like receptor 9 signaling pathway	GO:0034162	9.57	IRAK4 TRAF6
21	salivary gland cavitation	GO:0060662	9.56	EDA EDAR
22	regulation of odontogenesis	GO:0042481	9.54	MSX1 PAX9
23	positive regulation of NF-kappaB transcription factor activity	GO:0051092	9.5	CHUK EDA EDA2R IKBKG IRAK4 TAB2
24	nucleotide-binding oligomerization domain containing signaling pathway	GO:0070423	9.46	CHUK IKBKG TAB2 TRAF6
25	positive regulation of I-kappaB kinase/NF-kappaB signaling	GO:0043123	9.23	CHUK EDA EDA2R EDAR IKBKG IRAK4
26	multicellular organism development	GO:0007275	10.06	EDA EDA2R EDAR EDARADD KDF1 MSX1

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

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

Sources

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

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