Ectodermal Dysplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ECT006 MIFTS: 61	Ectodermal Dysplasia Categories: Endocrine diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Ectodermal Dysplasia

MalaCards integrated aliases for Ectodermal Dysplasia:

Name: Ectodermal Dysplasia ³⁸ ¹² ⁷⁶ ⁵³ ⁵⁵ ⁶ ¹⁵ ⁷³

Congenital Ectodermal Dysplasia ¹²

Congenital Ectodermal Defect ¹²

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Endocrine diseases Oral diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Ectodermal dysplasia (anhidrotic)

External Ids:

Disease Ontology ¹² DOID:2121

ICD10 ³³ Q82.4

SNOMED-CT via HPO ⁶⁹ 253983005 66948001 300268000 more

UMLS ⁷³ C0013575

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Summaries for Ectodermal Dysplasia

NIH Rare Diseases : ⁵³ Ectodermal dysplasias (ED) are a group of more than 180 disorders that affect the outer layer of tissue of the embryo (ectoderm) that helps make up the skin, sweat glands, hair, teeth, and nails. Symptoms of ED can range from mild to severe and may include teeth abnormalities; brittle, sparse or absent hair; abnormal fingernails; inability to perspire (hypohidrosis); various skin problems; and other symptoms. Different types of EDs are caused by mutations in different genes, and can be inherited in a variety of ways. No cure currently exist for the different types of ED, but many treatments are available to address the individual symptoms.

MalaCards based summary : Ectodermal Dysplasia, also known as congenital ectodermal dysplasia, is related to ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant and ectodermal dysplasia 1, hypohidrotic, x-linked. An important gene associated with Ectodermal Dysplasia is EDA (Ectodysplasin A), and among its related pathways/superpathways are Development Angiotensin activation of ERK and TRAF Pathway. The drugs Acetylcholine and Peripheral Nervous System Agents have been mentioned in the context of this disorder. Affiliated tissues include Epidermis and Epidermis, and related phenotypes are low-set ears and finger syndactyly

Disease Ontology : ¹² A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.

Wikipedia : ⁷⁶ Ectodermal dysplasia (ED) is not a single disorder but a group of syndromes all deriving from... more...

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Related Diseases for Ectodermal Dysplasia

Diseases related to Ectodermal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 307)

#	Related Disease	Score	Top Affiliating Genes
1	ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant	34.3	EDAR EDARADD KDF1
2	ectodermal dysplasia 1, hypohidrotic, x-linked	34.3	EDA EDA2R
3	cleft lip/palate-ectodermal dysplasia syndrome	34.2	NECTIN1 NECTIN4 TP63
4	ectodermal dysplasia 4, hair/nail type	34.1	HOXC13 KRT74 KRT85
5	hypohidrotic ectodermal dysplasia autosomal recessive	34.0	EDAR EDARADD
6	hypohidrotic ectodermal dysplasia with immunodeficiency	33.7	IKBKG NFKBIA
7	ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	33.6	CHUK EDA EDA2R EDAR EDARADD IKBKG
8	clouston syndrome	33.5	EDA EDAR EDARADD GJB2 GJB6 TP63
9	anodontia	32.7	EDA EDARADD
10	hypohidrosis	30.5	EDA EDAR EDARADD TP63
11	incontinentia pigmenti	30.4	CHUK EDAR IKBKG
12	hypotrichosis	30.3	CDH3 EDA EDAR EDARADD HOXC13 KRT74
13	tooth agenesis	30.1	CDH3 EDA EDA2R EDAR EDARADD
14	kid syndrome	30.0	GJB2 GJB6
15	lacrimal duct obstruction	30.0	HOXC13 KRT85 TP63
16	ectodermal dysplasia, hypohidrotic, with immune deficiency	12.6
17	ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1	12.6
18	ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive	12.6
19	ectodermal dysplasia/skin fragility syndrome	12.6
20	ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	12.6
21	ectodermal dysplasia-syndactyly syndrome 1	12.5
22	arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay	12.5
23	ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	12.5
24	ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia	12.5
25	ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant	12.5
26	cerebellar ataxia and ectodermal dysplasia	12.5
27	ectodermal dysplasia 7, hair/nail type	12.5
28	ectodermal dysplasia 9, hair/nail type	12.5
29	ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema	12.4
30	ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant	12.4
31	ectodermal dysplasia, trichoodontoonychial type	12.4
32	ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	12.4
33	ectodermal dysplasia/short stature syndrome	12.4
34	immunodeficiency without anhidrotic ectodermal dysplasia	12.4
35	tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities	12.4
36	ectodermal dysplasia 13, hair/tooth type	12.4
37	ectodermal dysplasia, hidrotic, christianson-fourie type	12.3
38	ectodermal dysplasia 5, hair/nail type	12.3
39	ectodermal dysplasia 6, hair/nail type	12.3
40	congenital heart defects and ectodermal dysplasia	12.3
41	ectodermal dysplasia 8, hair/tooth/nail type	12.3
42	ectrodactyly and ectodermal dysplasia without cleft lip/palate	12.3
43	arthrogryposis and ectodermal dysplasia	12.3
44	ectodermal dysplasia-syndactyly syndrome 2	12.3
45	hidrotic ectodermal dysplasia 2	12.2
46	congenital ectodermal dysplasia with hearing loss	12.2
47	rapp-hodgkin syndrome	12.2
48	witkop syndrome	12.2
49	ectodermal dysplasia and neurosensory deafness	12.1
50	ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet	12.1

Graphical network of the top 20 diseases related to Ectodermal Dysplasia:

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Symptoms & Phenotypes for Ectodermal Dysplasia

Human phenotypes related to Ectodermal Dysplasia:

³² (show all 36)

#	Description	HPO Frequency	HPO Source Accession
1	low-set ears ³²	occasional (7.5%)	HP:0000369
2	finger syndactyly ³²	occasional (7.5%)	HP:0006101
3	seizures ³²	occasional (7.5%)	HP:0001250
4	failure to thrive ³²	occasional (7.5%)	HP:0001508
5	dysphagia ³²	occasional (7.5%)	HP:0002015
6	chronic otitis media ³²	occasional (7.5%)	HP:0000389
7	cataract ³²	occasional (7.5%)	HP:0000518
8	photophobia ³²	occasional (7.5%)	HP:0000613
9	acanthosis nigricans ³²	occasional (7.5%)	HP:0000956
10	sinusitis ³²	occasional (7.5%)	HP:0000246
11	everted lower lip vermilion ³²	occasional (7.5%)	HP:0000232
12	dry skin ³²	hallmark (90%)	HP:0000958
13	malignant hyperthermia ³²	occasional (7.5%)	HP:0002047
14	keratoconjunctivitis sicca ³²	occasional (7.5%)	HP:0001097
15	visual loss ³²	occasional (7.5%)	HP:0000572
16	xerostomia ³²	occasional (7.5%)	HP:0000217
17	conductive hearing impairment ³²	occasional (7.5%)	HP:0000405
18	hand polydactyly ³²	occasional (7.5%)	HP:0001161
19	fine hair ³²	frequent (33%)	HP:0002213
20	neoplasm of the skin ³²	occasional (7.5%)	HP:0008069
21	recurrent pharyngitis ³²	occasional (7.5%)	HP:0100776
22	eczema ³²	occasional (7.5%)	HP:0000964
23	abnormality of dental morphology ³²	hallmark (90%)	HP:0006482
24	abnormality of skin pigmentation ³²	occasional (7.5%)	HP:0001000
25	wide nose ³²	occasional (7.5%)	HP:0000445
26	oral cleft ³²	frequent (33%)	HP:0000202
27	hypoplastic nipples ³²	frequent (33%)	HP:0002557
28	ectrodactyly ³²	occasional (7.5%)	HP:0100257
29	recurrent skin infections ³²	occasional (7.5%)	HP:0001581
30	slow-growing hair ³²	hallmark (90%)	HP:0002217
31	abnormality of nail color ³²	hallmark (90%)	HP:0100643
32	pili torti ³²	occasional (7.5%)	HP:0003777
33	rhinitis ³²	occasional (7.5%)	HP:0012384
34	absent eyebrow ³²	frequent (33%)	HP:0002223
35	alopecia of scalp ³²	hallmark (90%)	HP:0002293
36	diffuse palmoplantar hyperkeratosis ³²	occasional (7.5%)	HP:0007447

GenomeRNAi Phenotypes related to Ectodermal Dysplasia according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00106-A-0	10.07	HOXC13
2	Decreased viability	GR00221-A-1	10.07	CHUK
3	Decreased viability	GR00221-A-4	10.07	CHUK
4	Decreased viability	GR00342-S-1	10.07	CHUK
5	Decreased viability	GR00381-A-1	10.07	GRHL2 KDF1
6	Decreased viability	GR00402-S-2	10.07	CDH3 CHUK EDA EDA2R EDAR EDARADD
7	no effect	GR00402-S-1	9.62	CDH3 CHUK EDA EDA2R EDAR EDARADD

MGI Mouse Phenotypes related to Ectodermal Dysplasia:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.18	CHUK EDAR EDARADD GJB2 GRHL2 HOXC13
2	integument	MP:0010771	10.18	CDH3 CHUK EDAR EDARADD GJB2 GJB6
3	craniofacial	MP:0005382	10.09	CHUK EDAR EDARADD GJB2 GRHL2 HOXC13
4	mortality/aging	MP:0010768	10.03	CHUK EDAR EDARADD GJB2 GRHL2 HOXC13
5	limbs/digits/tail	MP:0005371	9.97	CHUK EDAR EDARADD GJB2 GRHL2 HOXC13
6	reproductive system	MP:0005389	9.81	CHUK EDAR EDARADD GJB2 GRHL2 IKBKG
7	skeleton	MP:0005390	9.61	CHUK EDAR EDARADD GJB2 GRHL2 HOXC13
8	vision/eye	MP:0005391	9.23	CHUK EDAR EDARADD GJB2 GRHL2 HOXC13

Sources

Drugs & Therapeutics for Ectodermal Dysplasia

Drugs for Ectodermal Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Acetylcholine

Approved

Phase 2

51-84-3

187

Synonyms:

2-(Acetyloxy)-N,N,N-trimethylethanaminium

Acetilcolina cusi

Acetyl choline ion

Acetylcholine bromide

Acetylcholine cation

acetylcholine chloride

Acetylcholine chloride

Acetylcholine Chloride

Acetylcholine fluoride

Acetylcholine hydroxide

Acetylcholine iodide

Acetylcholine L tartrate

Acetylcholine L-tartrate

Acetylcholine perchlorate

Acetylcholine picrate

Acetylcholine picrate (1:1)

Acetylcholine sulfate (1:1)

Acetylcholinium: acetyl-choline

ACh

Alcon brand OF acetylcholine chloride

Azetylcholin

Bournonville brand OF acetylcholine chloride

Bromide, acetylcholine

Bromoacetylcholine

Chloroacetylcholine

Choline acetate

Choline acetate (ester)

Choline acetic acid

Ciba vision brand OF acetylcholine chloride

Cusi, acetilcolina

Fluoride, acetylcholine

Hydroxide, acetylcholine

Iodide, acetylcholine

Iolab brand OF acetylcholine chloride

L-Tartrate, acetylcholine

Miochol

O-Acetylcholine

Perchlorate, acetylcholine

Peripheral Nervous System Agents

Phase 2

abobotulinumtoxinA

Phase 2

Botulinum Toxins

Phase 2

Neuromuscular Agents

Phase 2

Acetylcholine Release Inhibitors

Phase 2

Cholinergic Agents

Phase 2

onabotulinumtoxinA

Phase 2

Neurotransmitter Agents

Phase 2

Anesthetics

Phase 2

Botulinum Toxins, Type A

Phase 2

Pharmaceutical Solutions

Phase 2,Phase 1

Everolimus

Approved

Phase 1

159351-69-6

6442177

Synonyms:

(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone

(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone

(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont

(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy

(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone

(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone

001, RAD

07741_FLUKA

159351-69-6

40-O-(2-hydroxyethyl)-rapamycin

40-O-(2-Hydroxyethyl)-rapamycin

42-O-(2-Hydroxyethyl)rapamycin

Afinitor

Certican

CERTICAN(R)

CHEMBL1201755

D02714

DB01590

everolimus

Everolimus

Everolimus (JAN/USAN/INN)

Everolimus [USAN]

LS-143292

MolPort-003-847-342

MolPort-003-925-588

NCGC00167512-01

NVP-RAD-001

RAD 001

RAD, SDZ

RAD001

RAD-001

RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus

RAD-001C

S1120_Selleck

SDZ RAD

SDZ-RAD

UNII-9HW64Q8G6G

Zortress

Sirolimus

Approved, Investigational

Phase 1

53123-88-9

46835353 6436030 5284616

Synonyms:

(-)-rapamycin

(-)-Rapamycin

1fkb

1pbk

23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine

23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine

23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29

3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone

53123-88-9

A422989, NSC226080

AC1L1JH9

AC1L7MJ9

AC1L9ZMV

AC-722

Ambotz53123-88-9

Antibiotic AY 22989

AY 22989

AY22989

AY-22989

BIDD:PXR0165

Bio1_000293

Bio1_000782

Bio1_001271

Bio2_000375

Bio2_000855

BiomolKI2_000084

C07909

C51H79NO13

CBiol_002007

CCRIS 9024

CHEBI:100923

CHEBI:9168

CHEMBL413

CID10213190

CID10795871

CID11949238

CID11959112

CID313006

CID478951

CID5040

CID5284616

CID5358081

CID5374464

CID5460439

CID5497196

CID5924240

CID6436030

CID6610270

CID6610346

CID6711160

CID6713081

CID9833581

CID9854379

CID9854380

CID9962926

CID9962928

D00753

DB00877

DE-109

DivK1c_006936

FT-0082351

heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy

HMS2089A21

HSDB 7284

KBio1_001880

KBio2_000410

KBio2_002978

KBio2_005546

KBio3_000779

KBio3_000780

KBioGR_000410

KBioSS_000410

LCP-Siro

LMPK06000003

LS-143290

MLS000028373

MolMap_000043

MolPort-003-959-433

MS-R001

NCGC00021305-05

nchembio.100-comp4

nchembio.2007.42-comp2

nchembio.79-comp1

nchembio762-comp1

nchembio883-comp3

NCI60_001851

NCIMech_000355

NSC 226080

NSC226080

Perceiva

QTL1_000069

R0395_SIAL

R0395_SIGMA

RAP

RAPA

Rapammune

Rapamune

Rapamune (TN)

rapamycin

Rapamycin

Rapamycin (TN)

Rapamycin C-7, analog 4

Rapamycin from Streptomyces hygroscopicus

Rapamycin Immunosuppressant Drug

RPM

S1039_Selleck

SIIA 9268A

SILA 9268A

SILA9268A

sirolimus

Sirolimus

sirolimús

Sirolimus (RAPAMUNE)

Sirolimus (USAN/INN)

Sirolimus [USAN:BAN:INN]

Sirolimus, Rapamune,Rapamycin

sirolimusum

SMP1_000255

SMR000058564

SpecPlus_000840

UNII-W36ZG6FT64

UNM-0000358684

Wy 090217

WY-090217

Miconazole

Approved, Investigational, Vet_approved

Phase 1

22916-47-8

4189

Synonyms:

(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole

1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole

1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole

1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole

1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole

1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole

1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole

1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole

1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole

1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole

22832-87-7 (NITRATE)

22916-47-8

75319-47-0

AB00053500

AC1L1HM1

Aflorix(nitrate)

AKOS001574474

Albistat(nitrate)

Andergin(nitrate)

BPBio1_000279

BRD-A82396632-001-03-0

BRD-A82396632-008-02-7

Brentan

BRN 0965511

BSPBio_000253

BSPBio_002033

CCRIS 7924

CHEBI:6923

CHEMBL91

CID4189

Conofite(nitrate)

CPD-4501

D00416

Dactarin

Daktarin iv

Daktarin IV

DB01110

DivK1c_000156

EINECS 245-324-5

Epi-Monistat(nitrate)

Esteve brand OF miconazole

Femizol-M

Florid(nitrate)

Gyno-Daktar(nitrate)

HMS1568M15

HMS2090B21

I14-14342

IDI1_000156

imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)

Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)

Janssen cilag brand OF miconazole

Janssen-cilag brand OF miconazole

Johnston and johnston brand OF miconazole nitrate

KBio1_000156

KBio2_001445

KBio2_004013

KBio2_006581

KBio3_001533

KBioGR_000581

KBioSS_001445

Lotrimin AF(nitrate)

LS-78378

MCZ

Micantin (nitrate)

Miconasil nitrate

Miconasil Nitrate

Miconazol

Miconazol [INN-Spanish]

miconazole

Miconazole

Miconazole (JP15/USP/INN)

Miconazole [USAN:BAN:INN:JAN]

Miconazole 3

Miconazole 3 Combination Pack

Miconazole 7 Combination Pack

Miconazole esteve brand

Miconazole janssen-cilag brand

Miconazole nitrate

Miconazole nitrate salt

Miconazole-7

Miconazolo

Miconazolo [DCIT]

Miconazolum

Miconazolum [INN-Latin]

Micozole

Minostate

MJR 1762

MLS002222203

MolPort-002-557-553

Monazole 7

Monista (nitrate)

Monistat

Monistat (TN)

Monistat 1 Combination Pack

Monistat 3 Dual-Pak

Monistat 3 Vaginal Ovules

Monistat 5 Tampon

Monistat 7 Dual-Pak

Monistat 7 Vaginal Suppositories

Monistat Dual- PAK

Monistat IV

Monistat iv (tn)

Monistat iv (TN)

Monistat-Derm

NCI60_001353

NCI60_001380

NINDS_000156

Nitrate, miconasil

Nitrate, miconazole

Novo-Miconazole Vaginal Ovules

NSC 170986

NSC169434

NSC170986

Oprea1_091955

Prestwick_335

Prestwick0_000067

Prestwick1_000067

Prestwick2_000067

Prestwick3_000067

R 18134

R-14,889

SMR001307249

SPBio_000976

SPBio_002174

Spectrum_000965

Spectrum2_001048

Spectrum3_000507

Spectrum4_000061

Spectrum5_001297

STK834405

STOCK1S-93556

UNII-7NNO0D7S5M

Vusion

Zimycan

Antifungal Agents

Phase 1

Immunologic Factors

Phase 1

Antibiotics, Antitubercular

Phase 1

Immunosuppressive Agents

Phase 1

Anti-Infective Agents

Phase 1

Anti-Bacterial Agents

Phase 1

Simvastatin

Approved

Not Applicable

79902-63-9

54454

Synonyms:

(+)-Simvastatin

(1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate

[(1S,3R,7S,8S,8aR)-8-[2-[(2R,4R)-4-hydroxy-6-oxooxan-2-yl]ethyl]-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl] 2,2-dimethylbutanoate

2,2-Dimethylbutanoic acid (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester

2,2-Dimethylbutyrate, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8ar)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one

2,2-dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one

2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8ar)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one

2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one

79902-63-9

AC-1530

AC1L1H1F

AKOS005111006

ARONIS24119

BCBcMAP01_000007

BIDD:GT0769

Bio-0672

BPBio1_001001

BRD-K22134346-001-05-8

BRN 4768037

BSPBio_000909

BSPBio_002337

Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,*aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester

Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester

Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester

butanoic acid, 2,2-dimethyl-,1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)-ethyl]-1-naphthalenyl ester, [1S-[1 alpha,3 alpha,7 beta,8 beta(2S*,4S*),-8a beta

C25H38O5

CCRIS 7558

CHEBI:9150

CHEMBL1064

Cholestat

CID54454

Coledis

Colemin

Corolin

CPD000718785

D00434

D019821

Denan

DivK1c_006991

DRG-0320

Eucor

HMS1570N11

HMS1922H13

HMS2089D12

HMS2093E06

HSDB 7208

InChI=1/C25H38O5/c1-6-25(4,5)24(28)30-21-12-15(2)11-17-8-7-16(3)20(23(17)21)10-9-19-13-18(26)14-22(27)29-19/h7-8,11,15-16,18-21,23,26H,6,9-10,12-14H2,1-5H3/t15-,16-,18+,19+,20-,21-,23-/m0/s1

KBio1_001935

KBio2_002197

KBio2_004765

KBio2_007333

KBio3_001557

KBioGR_001244

KBioSS_002197

Kolestevan

KS-1113

L 644128-000U

Labistatin

Lipex

Lipinorm

Liponorm

Lipovas

Lodales

LS-46264

Medipo

MK 0733

MK 733

MK-0733

MK733

MK-733

MLS001304029

MLS001333077

MLS001333078

MLS002154038

Modutrol

MolPort-002-507-345

MolPort-002-885-862

NCGC00017324-01

NCGC00017324-02

NCGC00017324-03

nchembio790-comp16

Nivelipol

Nor-vastina

Pantok

Pepstatin

Prestwick_171

Prestwick0_000865

Prestwick1_000865

Prestwick2_000865

Prestwick3_000865

Rechol

Rendapid

S1792_Selleck

S6196_SIGMA

SAM002589969

Simcor

Simovil

Simvast CR

simvastatin

Simvastatin & Primycin

Simvastatin (JAN/USP/INN)

Simvastatin [Usan:Ban:Inn]

Simvastatin [USAN:INN:BAN]

Simvastatin lactone

Simvastatin, Compactin

Simvastatina

Simvastatina [Spanish]

Simvastatine

Simvastatine [French]

Simvastatinum

Simvastatinum [Latin]

Simvotin

Sinvacor

Sinvascor

Sivastin

SMR000718785

SPBio_001881

SPBio_002830

SpecPlus_000895

Spectrum_001717

SPECTRUM1504236

Spectrum2_001671

Spectrum3_000669

Spectrum4_000632

Spectrum5_001428

Statin

STK801938

Synvinolin

TNP00259

UNII-AGG2FN16EV

Valemia

Vasotenal

Velostatin

Vytorin

ZINC03780893

Zocor

Zocor (TN)

Zocor, Simlup, Simcard, Simvacor, Simvoget, Zorced, Simvastatin

Zocord

Anticholesteremic Agents

Not Applicable

Lipid Regulating Agents

Not Applicable

Hydroxymethylglutaryl-CoA Reductase Inhibitors

Not Applicable

Antimetabolites

Not Applicable

Hypolipidemic Agents

Not Applicable

Immunoglobulins

Antibodies

Interventional clinical trials:

(show all 31)

#	Name	Status	NCT ID	Phase	Drugs
1	Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita	Unknown status	NCT00936533	Phase 2	Dysport® (Botulinumtoxin A (Btx A));Placebo
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	Topical Sirolimus for the Treatment of Pachyonychia Congenita (PC)	Completed	NCT02152007	Phase 1	1% sirolimus cream (TD201 1%)
5	Study of TD101, a Small Interfering RNA (siRNA) Designed for Treatment of Pachyonychia Congenita	Completed	NCT00716014	Phase 1	TD101;Normal saline (placebo)
6	Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin	Completed	NCT02592954	Phase 1	Jojoba oil with broccoli sprout extract;Jojoba oil (placebo)
7	Simvastatin Treatment of Pachyonychia Congenita	Unknown status	NCT01382511	Not Applicable	Simvastatine
8	Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype	Completed	NCT01398397
9	Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation	Completed	NCT01386775
10	Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - A	Completed	NCT01293565
11	Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012)	Completed	NCT01629927
12	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
13	Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia	Completed	NCT01308333
14	X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction Survey	Completed	NCT01398813
15	Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia	Completed	NCT01109290
16	Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia	Completed	NCT01135888
17	Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia	Completed	NCT01108770
18	Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia	Completed	NCT02099552
19	Phenotypic Properties in Individuals Affected With XLHED	Completed	NCT01871714
20	Clinical Study of Oral Endosseous Titanium Implants in Edentulous Subjects	Completed	NCT00001211
21	Sweat Duct Imaging in Mother/Newborn Dyads	Completed	NCT01342133
22	Growth Arrest in Focal Dermal Hypoplasia	Completed	NCT02463656
23	Natural History of Asphyxiating Thoracic Dystrophy (DTJ)	Completed	NCT00948376
24	Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63	Recruiting	NCT02896387
25	Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)	Recruiting	NCT01630421
26	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford	Recruiting	NCT01793168
27	International Pachyonychia Congenita Research Registry	Recruiting	NCT02321423
28	Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002	Active, not recruiting	NCT01992289		EDI200
29	Study of Selected X-linked Disorders: Goltz Syndrome	Active, not recruiting	NCT00691223
30	Comparison Between Acrylic and Soft Liner Telescopic Overdentures Regarding Patient Satisfaction	Not yet recruiting	NCT03127033	Not Applicable
31	Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States	Terminated	NCT00266513

Search NIH Clinical Center for Ectodermal Dysplasia

Sources

Genetic Tests for Ectodermal Dysplasia

Sources

Anatomical Context for Ectodermal Dysplasia

MalaCards organs/tissues related to Ectodermal Dysplasia:

⁴¹

Skin, Bone, Testes, Eye, T Cells, Breast, Brain

Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Ectodermal Dysplasia:

#	Tissue Anatomical CompartmentCell	Relevance
1	Epidermis Embryonic Epidermis Basal Keratinocytes	Affected by disease
2	Epidermis Stratified Epidermis Corneocytes	Affected by disease
3	Epidermis Stratified Epidermis Granular Keratinocytes	Affected by disease
4	Epidermis Stratified Epidermis Spinous Keratinocytes	Affected by disease

Sources

Publications for Ectodermal Dysplasia

Articles related to Ectodermal Dysplasia:

(show top 50) (show all 1179)

#	Title	Authors	Year
1	Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia. ( 29526031 )	Intarak N....Shotelersuk V.	2018
2	Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome. ( 29616174 )	Rachmiel A....Shilo D.	2018
3	A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome. ( 29430627 )	Ahmad F....Ahmad W.	2018
4	A novel splicing mutation of ectodysplasin A gene responsible for hypohidrotic ectodermal dysplasia. ( 29676859 )	Liu G....Zhu J.	2018
5	Biallelic mutations of <i>EGFR</i> in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction. ( 29899996 )	Hayashi S....Kurosawa K.	2018
6	Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia: A systematic review. ( 29679503 )	Schnabl D....Kapferer-Seebacher I.	2018
7	Dental implants in patients with ectodermal dysplasia: A systematic review. ( 29884311 )	Chrcanovic B.R.	2018
8	IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation. ( 29948576 )	Moriya K....Kanegane H.	2018
9	A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates. ( 29915774 )	Meshram G.G....Hura K.S.	2018
10	Two EDA Gene Mutations in Chinese Patients with Hypohidrotic Ectodermal Dysplasia. ( 29444360 )	FENG X....Qi M.	2018
11	Hypohidrotic ectodermal dysplasia with strabismus. ( 29573265 )	Okubo A....Kanekura T.	2018
12	Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia. ( 29694819 )	Schneider H....Schneider P.	2018
13	Two cases of hypohidrotic ectodermal dysplasia caused by novel deletion mutations in the EDA gene. ( 29905390 )	Nakajima M....Abe R.	2018
14	A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1. ( 29265343 )	Florian R....Volc-Platzer B.	2018
15	Disturbances of dental development distinguish patients with oligodontia-ectodermal dysplasia from isolated oligodontia. ( 29271123 )		2018
16	Giant Temporal Lobe Abscess in a Patient With Ectodermal Dysplasia. ( 29794688 )		2018
17	Phenotypic Features and Salivary Parameters in Patients with Ectodermal Dysplasia: Report of Three Cases. ( 29854479 )		2018
18	Hypohidrotic ectodermal dysplasia: clinical and molecular review. ( 29855039 )		2018
19	A heterozygous mutation in the SAM domain of p63 underlies a mild form of ectodermal dysplasia. ( 29526522 )		2018
20	Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia. ( 30289605 )	Valentin MN...Kirkorian AY	2018
21	Evolution of Acquired Middle Ear Cholesteatoma in Patients With Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate (EEC) Syndrome. ( 30113563 )	Lourencone LFM...de Brito R	2018
22	Early implant placement for a patient with ectodermal dysplasia: Thirteen years of clinical care. ( 29195821 )	Knobloch LA...L'Homme-Langlois E	2018
23	19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype. ( 29988626 )	Abe KT...Speck-Martins CE	2018
24	Oral Mucosa-Derived Induced Pluripotent Stem Cells from Patients with Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome. ( 29989433 )	Trevisan M...Pal? G	2018
25	Genetic diagnosis for X-linked hypohidrotic ectodermal dysplasia family with a novel Ectodysplasin A gene mutation. ( 30006944 )	Ma X...Chou HY	2018
26	First homozygous large deletion in EDARADD gene associated with a severe form of anhidrotic ectodermal dysplasia. ( 30022538 )	Cluzeau C...Turki H	2018
27	Rehabilitation of ectodermal dysplasia patients presenting with hypodontia: outcomes of implant rehabilitation part 1. ( 30054172 )	Machado M...Klineberg I	2018
28	[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
29	Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia. ( 30079503 )	Ahmad F...Ahmad W	2018
30	Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia. ( 30117778 )	Liu Y...Zhang X	2018
31	Two Japanese families with hypohidrotic ectodermal dysplasia: Phenotypic differences between affected individuals. ( 30125999 )	Okita T...Shimomura Y	2018
32	An ectodermal dysplasia patient treated with a small diameter implant supporting a single crown. ( 30127647 )	Mascolo A...Flanagan D	2018
33	Upper cervical spine and craniofacial morphology in hypohidrotic ectodermal dysplasia. ( 30128696 )	Sonnesen L...Daugaard-Jensen J	2018
34	Management of ectodermal dysplasia with tooth-supported computer-engineered complete overdentures: A clinical report. ( 30139675 )	Punj A...Kattadiyil MT	2018
35	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
36	Polymer-Infiltrated-Ceramic-Network, CAD/CAM Restorations for Oral Rehabilitation of Pediatric Patients with X-Linked Ectodermal Dysplasia. ( 30192352 )	Foucher F...Mainjot AK	2018
37	Clinical, radiographic, and genetic characteristics of hypohidrotic ectodermal dysplasia: A cross-sectional study. ( 30192988 )	Ngoc VTN...Nga VT	2018
38	Ophthalmological findings in ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome: a case report. ( 30208149 )	Matos AG...Yugar AS	2018
39	Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion. ( 30240710 )	Mottet N...Piard J	2018
40	Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency. ( 30243918 )	Yu HH...Chiang BL	2018
41	A frameshift variant in the EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia. ( 30276836 )	Hadji Rasouliha S...Leeb T	2018
42	A rare cause of fever of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation. ( 30302989 )	Oguz MM...Senel S	2018
43	The effect of ectodermal dysplasia on volume and surface area of maxillary sinus. ( 30343323 )	Yalcin ED...Aksoy O	2018
44	Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography. ( 30394555 )	Hammersen J...Faschingbauer F	2018
45	A de Novo EDA-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia. ( 30397018 )	Vasiliadis D...Distl O	2018
46	Hypohidrotic Ectodermal Dysplasia: A Rare Disorder with Bilateral Infantile Glaucoma. ( 30540672 )	Dubey S...Jain K	2018
47	Ectodermal dysplasia-skin fragility syndrome with a new mutation. ( 28540868 )	Alatas E.T....Baysal O.	2017
48	Ectodysplasin A in Biological Fluids and Diagnosis of Ectodermal Dysplasia. ( 28106506 )	Podzus J....Schneider P.	2017
49	Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia. ( 28993958 )	Frans G....Bossuyt X.	2017
50	Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia. ( 28543635 )	Mehmood S....Ahmad W.	2017

Sources

Genes for Ectodermal Dysplasia

Genes related to Ectodermal Dysplasia (2 elite genes):

(show all 24)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	EDA	Ectodysplasin A	Protein Coding	481.73	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	19504606 17371397 18510547 (more) 19828977 11751679 11035039 17924345 11388598 20486090
2	EDAR	Ectodysplasin A Receptor	Protein Coding	481.19	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	15280356 11035039 12270937 (more) 20145163 11374782 18816645 15958791 17693991 19543321 15013427 19504606 17371397
3	PKP1	Plakophilin 1	Protein Coding	88.36	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Transcripts Variants (show sections)	15086548 11180229 12839569 (more) 16632867 10635620 10951270
4	IKBKG	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Gamma	Protein Coding	77.4	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Pathways & Interactions Variants (show sections)	16794254 14764716 18350553 (more) 20133626 18347290 16333836 18794870 19764466
5	NFKBIA	NFKB Inhibitor Alpha	Protein Coding	70.42	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Pathways & Interactions Variants (show sections)	17931563 18794870 11224521 (more) 20080849
6	TP63	Tumor Protein P63	Protein Coding	68.29	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	11903230 18633439 12766194 (more) 20424325 18603493 17609671 11693108 15369222 19681128 18648642 15606495 15748593 11012604 15550149 12446784 19450441 16724007 16546853 16679535 15988026 15491445 12445213 17312919 16319531 11879774 12939657 19903181 19681108 17164413 16190990 16177572 15807690 14656652 19716498 11462173 19676060 15725251
7	GJB6	Gap Junction Protein Beta 6	Protein Coding	66.41	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
8	NECTIN1	Nectin Cell Adhesion Molecule 1	Protein Coding	63.66	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
9	EDARADD	EDAR Associated Death Domain	Protein Coding	58.22	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
10	NECTIN4	Nectin Cell Adhesion Molecule 4	Protein Coding	52.12	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
11	CDH3	Cadherin 3	Protein Coding	51.81	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
12	EDA2R	Ectodysplasin A2 Receptor	Protein Coding	44.36	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Variants (show sections)	15280356 19543321 12270937 (more) 17693991 20145163
13	KRT85	Keratin 85	Protein Coding	42.9	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
14	KRT74	Keratin 74	Protein Coding	42.55	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
15	HOXC13	Homeobox C13	Protein Coding	42.04	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
16	KDF1	Keratinocyte Differentiation Factor 1	Protein Coding	41.37	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
17	KREMEN1	Kringle Containing Transmembrane Protein 1	Protein Coding	40.51	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
18	GRHL2	Grainyhead Like Transcription Factor 2	Protein Coding	40.11	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
19	GJB2	Gap Junction Protein Beta 2	Protein Coding	39.98	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications (show sections)	17106596 11912510 20230788
20	CHUK	Conserved Helix-Loop-Helix Ubiquitous Kinase	Protein Coding	35.49	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Pathways & Interactions (show sections)	18633439
21	WNT10A	Wnt Family Member 10A	Protein Coding	24.55	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
22	DSP	Desmoplakin	Protein Coding	23.79	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
23	EVC2	EvC Ciliary Complex Subunit 2	Protein Coding	22.37	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders (show sections)	17392984
24	TUBA3C	Tubulin Alpha 3c	Protein Coding	21.94	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)

Sources

Variations for Ectodermal Dysplasia

ClinVar genetic disease variations for Ectodermal Dysplasia:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	EDA	NM_001399.4(EDA): c.826C> T (p.Arg276Cys)	single nucleotide variant	Pathogenic	rs387907197	GRCh37	Chromosome X, 69253280: 69253280
2	EDA	NM_001399.4(EDA): c.826C> T (p.Arg276Cys)	single nucleotide variant	Pathogenic	rs387907197	GRCh38	Chromosome X, 70033430: 70033430
3	EDAR	NM_022336.3(EDAR): c.529+1G> A	single nucleotide variant	Pathogenic		GRCh37	Chromosome 2, 109529133: 109529133
4	EDAR	NM_022336.3(EDAR): c.529+1G> A	single nucleotide variant	Pathogenic		GRCh38	Chromosome 2, 108912677: 108912677

Sources

Expression for Ectodermal Dysplasia

Search GEO for disease gene expression data for Ectodermal Dysplasia.

Sources

Pathways for Ectodermal Dysplasia

Pathways related to Ectodermal Dysplasia according to GeneCards Suite gene sharing:

(show all 22)

#	Super pathways	Score	Top Affiliating Genes
1	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	12.73	CHUK EDA EDA2R EDAR IKBKG NFKBIA
2	TRAF Pathway ⁶⁴ Show member pathways 14-3-3 Induced Apoptosis ⁶⁴ TNF Superfamily Pathway ⁶⁴ Toll-Like Receptors Pathway ⁶⁴	12.27	CHUK EDA EDA2R EDAR IKBKG NFKBIA
3	MAPK Pathway ⁷² Show member pathways Toll-like Receptor Pathway ⁷²	11.87	CHUK IKBKG NFKBIA
4	TNF signaling pathway ³⁷	11.82	CHUK IKBKG NFKBIA
5	G12-G13 in Cellular Signaling ⁶⁴	11.79	CDH3 CHUK IKBKG NFKBIA
6	NF-kappa B signaling pathway ³⁷	11.75	CHUK IKBKG NFKBIA
7	Cytokine production by Th17 cells in CF (Mouse model) ²² Show member pathways Cytokine production by Th17 cells in CF ²²	11.73	CHUK IKBKG NFKBIA
8	Small cell lung cancer ³⁷	11.72	CHUK IKBKG NFKBIA
9	LT-BetaR Pathway ⁶⁴ Show member pathways Apoptosis and survival Lymphotoxin-beta receptor signaling ²²	11.66	CHUK IKBKG NFKBIA
10	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	11.6	CHUK IKBKG NFKBIA
11	Adipocytokine signaling pathway ³⁷	11.54	CHUK IKBKG NFKBIA
12	Shigellosis ³⁷	11.5	CHUK IKBKG NFKBIA
13	Transcription_NF-kB signaling pathway ²²	11.39	CHUK IKBKG NFKBIA
14	Cellular Transformation by HTLV1 ⁶⁴ Show member pathways Activation of NF-KappaB by PKR ⁶⁴	11.33	CHUK IKBKG NFKBIA
15	Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins ²² Show member pathways Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization ⁶⁶	11.27	CHUK IKBKG NFKBIA
16	Nucleotide-binding Oligomerization Domain (NOD) pathway ¹	11.22	CHUK IKBKG NFKBIA
17	EBV LMP1 signaling ¹	10.92	CHUK IKBKG NFKBIA
18	Canonical NF-kappaB pathway ¹	10.86	CHUK IKBKG NFKBIA
19	NTHi-Induced Signaling ⁶⁴	10.65	CHUK IKBKG NFKBIA
20	NLR Proteins ¹	10.5	CHUK IKBKG
21	TNFs bind their physiological receptors ⁶⁶	10.4	EDA EDA2R EDAR EDARADD
22	MAPK and NFkB Signalling Pathways Inhibited by Yersinia YopJ ¹	10.21	CHUK IKBKG NFKBIA

Sources

GO Terms for Ectodermal Dysplasia

Cellular components related to Ectodermal Dysplasia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell junction	GO:0030054	9.43	GJB2 GJB6 KDF1 NECTIN1 NECTIN4 PKP1
2	apical junction complex	GO:0043296	9.26	NECTIN1 NECTIN4
3	IkappaB kinase complex	GO:0008385	9.16	CHUK IKBKG
4	cell-cell adherens junction	GO:0005913	8.92	CDH3 NECTIN1 NECTIN4 PKP1

Biological processes related to Ectodermal Dysplasia according to GeneCards Suite gene sharing:

(show all 23)

#	Name	GO ID	Score	Top Affiliating Genes
1	keratinization	GO:0031424	9.86	CDH3 KRT74 KRT85 PKP1
2	multicellular organism development	GO:0007275	9.86	EDA EDA2R EDAR EDARADD HOXC13 KDF1
3	response to lipopolysaccharide	GO:0032496	9.8	CHUK GJB2 GJB6 NFKBIA
4	cornification	GO:0070268	9.77	KRT74 KRT85 PKP1
5	I-kappaB kinase/NF-kappaB signaling	GO:0007249	9.74	CHUK IKBKG NFKBIA
6	odontogenesis of dentin-containing tooth	GO:0042475	9.71	EDA EDAR TP63
7	positive regulation of NF-kappaB transcription factor activity	GO:0051092	9.71	CHUK EDA EDA2R IKBKG
8	interleukin-1-mediated signaling pathway	GO:0070498	9.69	CHUK IKBKG NFKBIA
9	cell communication	GO:0007154	9.63	GJB2 GJB6 KREMEN1
10	establishment of skin barrier	GO:0061436	9.61	KDF1 TP63
11	adherens junction organization	GO:0034332	9.61	CDH3 NECTIN1 NECTIN4
12	MyD88-independent toll-like receptor signaling pathway	GO:0002756	9.58	CHUK IKBKG
13	positive regulation of keratinocyte proliferation	GO:0010838	9.58	CDH3 TP63
14	negative regulation of keratinocyte differentiation	GO:0045617	9.55	GRHL2 TP63
15	positive regulation of I-kappaB kinase/NF-kappaB signaling	GO:0043123	9.55	CHUK EDA EDA2R EDAR IKBKG
16	hair follicle development	GO:0001942	9.54	EDAR HOXC13 TP63
17	salivary gland cavitation	GO:0060662	9.48	EDA EDAR
18	epidermis development	GO:0008544	9.35	EDA2R EDAR GRHL2 KRT85 TP63
19	regulation of epidermal cell division	GO:0010482	9.32	KDF1 TP63
20	tumor necrosis factor-mediated signaling pathway	GO:0033209	9.1	CHUK EDA EDA2R EDAR EDARADD NFKBIA
21	cell differentiation	GO:0030154	10.07	EDA EDA2R EDAR EDARADD KDF1 TP63
22	cell adhesion	GO:0007155	10	CDH3 GRHL2 NECTIN1 NECTIN4 PKP1
23	apoptotic process	GO:0006915	10	EDAR GJB6 IKBKG KREMEN1 NFKBIA TP63

Molecular functions related to Ectodermal Dysplasia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	identical protein binding	GO:0042802	9.43	GJB2 IKBKG NECTIN1 NECTIN4 NFKBIA TP63
2	signaling receptor activity	GO:0038023	8.92	EDA2R EDAR NECTIN1 NECTIN4

Sources

Sources for Ectodermal Dysplasia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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²³ GeneHancer via GeneCards

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³³ ICD10

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³⁵ ICD9CM

³⁶ IUPHAR

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⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

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⁴⁴ MeSH

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⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

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⁵⁵ Novoseek

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⁵⁷ OMIM

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⁵⁹ Orphanet

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⁶² PubMed

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⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia