Aliases & Classifications for Ectodermal Dysplasia

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Aliases & Descriptions for Ectodermal Dysplasia:

Name: Ectodermal Dysplasia 35 48 50 68

Classifications:



External Ids:

ICD1030 Q82.4

Summaries for Ectodermal Dysplasia

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NIH Rare Diseases:48 Ectodermal dysplasias (ED) are a group of about 150 heritable disorders that affect the ectoderm, a layer of tissue that contributes to the formation of many parts of the body, including the skin, sweat glands, hair, teeth, and nails. Symptoms can range from mild to severe and may include dental abnormalities; brittle, sparse or absent hair; abnormal fingernails; inability to perspire (hypohidrosis); various skin problems; and other symptoms. Different types of ectodermal dysplasias are caused by mutations in different genes, and can be inherited in a variety of ways. There are no cures for ED, but many treatments are available to address the individual symptoms. Last updated: 5/23/2016

MalaCards based summary: Ectodermal Dysplasia is related to ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant and ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant, and has symptoms including dry skin, slow-growing hair and abnormality of dental morphology. An important gene associated with Ectodermal Dysplasia is EDA (Ectodysplasin A), and among its related pathways are Cellular Transformation by HTLV1 and Transcription_NF-kB signaling pathway. Affiliated tissues include skin, bone and testes, and related mouse phenotypes are endocrine/exocrine gland and integument.

Wikipedia:71 Ectodermal dysplasia is not a single disorder, but a group of syndromes all deriving from abnormalities... more...

Related Diseases for Ectodermal Dysplasia

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

(show top 50)    (show all 220)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant33.6EDAR, EDARADD
2ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant33.5EDAR, EDARADD
3ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive33.4EDAR, EDARADD
4ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive33.2EDA, EDAR, EDARADD, IKBKG
5ectodermal dysplasia 1, hypohidrotic, x-linked12.4
6cleft lip/palate-ectodermal dysplasia syndrome12.4
7ectodermal dysplasia 2, clouston type12.3
8ectodermal dysplasia/skin fragility syndrome12.3
9ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 312.3
10ectodermal dysplasia, ectrodactyly, and macular dystrophy12.3
11ectodermal dysplasia 3, witkop type12.3
12ectodermal dysplasia, hypohidrotic, with immune deficiency12.3
13ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia12.2
14ectodermal dysplasia 4, hair/nail type12.2
15ectodermal dysplasia 7, hair/nail type12.2
16ectodermal dysplasia 9, hair/nail type12.2
17ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency12.2
18ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency12.2
19ectodermal dysplasia-syndactyly syndrome 112.1
20ectodermal dysplasia/short stature syndrome12.1
21corneal intraepithelial dyskeratosis and ectodermal dysplasia12.1
22ectodermal dysplasia 5, hair/nail type12.1
23ectodermal dysplasia 6, hair/nail type12.1
24ectodermal dysplasia 8, hair/tooth/nail type12.1
25hypohidrotic ectodermal dysplasia autosomal recessive12.0
26hidrotic ectodermal dysplasia 212.0
27eec syndrome12.0
28ectodermal dysplasia, trichoodontoonychial type12.0
29ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 112.0
30hypohidrotic ectodermal dysplasia with immunodeficiency12.0
31rapp-hodgkin syndrome12.0
32cerebellar ataxia and ectodermal dysplasia11.9
33arthrogryposis and ectodermal dysplasia11.9
34arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay11.9
35ectodermal dysplasia-syndactyly syndrome 211.9
36ectodermal dysplasia and neurosensory deafness11.8
37ectodermal dysplasia, hidrotic, christianson-fourie type11.8
38ectodermal dysplasia with natal teeth, turnpenny type11.8
39congenital ectodermal dysplasia with hearing loss11.8
40ectodermal dysplasia mental retardation syndactyly11.8
41hypohidrotic ectodermal dysplasia, autosomal11.8
42ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum11.8
43ectodermal dysplasia alopecia preaxial polydactyly11.8
44tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities11.7
45ectodermal dysplasia arthrogryposis diabetes mellitus11.7
46ectodermal dysplasia bartalos type11.7
47ectodermal dysplasia berlin type11.7
48ectodermal dysplasia blindness11.7
49ectodermal dysplasia intellectual disability cns malformation11.7
50ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features11.7

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



Diseases related to ectodermal dysplasia

Symptoms & Phenotypes for Ectodermal Dysplasia

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Human phenotypes related to Ectodermal Dysplasia:

 64 (show all 36)
id Description HPO Frequency HPO Source Accession
1 dry skin64 hallmark (90%) HP:0000958
2 slow-growing hair64 hallmark (90%) HP:0002217
3 abnormality of dental morphology64 hallmark (90%) HP:0006482
4 abnormality of the toenails64 hallmark (90%) HP:0008388
5 abnormal hair quantity64 hallmark (90%) HP:0011362
6 abnormality of nail color64 hallmark (90%) HP:0100643
7 oral cleft64 typical (50%) HP:0000202
8 frontal bossing64 typical (50%) HP:0002007
9 fine hair64 typical (50%) HP:0002213
10 aplasia/hypoplasia of the nipples64 typical (50%) HP:0006709
11 xerostomia64 occasional (7.5%) HP:0000217
12 everted lower lip vermilion64 occasional (7.5%) HP:0000232
13 sinusitis64 occasional (7.5%) HP:0000246
14 low-set, posteriorly rotated ears64 occasional (7.5%) HP:0000368
15 otitis media64 occasional (7.5%) HP:0000388
16 conductive hearing impairment64 occasional (7.5%) HP:0000405
17 visual impairment64 occasional (7.5%) HP:0000505
18 cataract64 occasional (7.5%) HP:0000518
19 photophobia64 occasional (7.5%) HP:0000613
20 acanthosis nigricans64 occasional (7.5%) HP:0000956
21 eczema64 occasional (7.5%) HP:0000964
22 palmoplantar keratoderma64 occasional (7.5%) HP:0000982
23 abnormality of skin pigmentation64 occasional (7.5%) HP:0001000
24 keratoconjunctivitis sicca64 occasional (7.5%) HP:0001097
25 hand polydactyly64 occasional (7.5%) HP:0001161
26 split hand64 occasional (7.5%) HP:0001171
27 seizures64 occasional (7.5%) HP:0001250
28 abnormality of the foot64 occasional (7.5%) HP:0001760
29 malignant hyperthermia64 occasional (7.5%) HP:0002047
30 pili torti64 occasional (7.5%) HP:0003777
31 finger syndactyly64 occasional (7.5%) HP:0006101
32 neoplasm of the skin64 occasional (7.5%) HP:0008069
33 feeding difficulties in infancy64 occasional (7.5%) HP:0008872
34 recurrent pharyngitis64 occasional (7.5%) HP:0100776
35 aplasia/hypoplasia of the eyebrow64 occasional (7.5%) HP:0100840
36 skin ulcer64 occasional (7.5%) HP:0200042

MGI Mouse Phenotypes related to Ectodermal Dysplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.7CDH3, EDAR, EDARADD, GJB6, IKBKG, NFKBIA
2MP:00107716.5CDH3, EDAR, EDARADD, GJB6, IKBKG, NECTIN1

Drugs & Therapeutics for Ectodermal Dysplasia

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

(show all 28)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcholineapprovedPhase 277651-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
2onabotulinumtoxinAPhase 2626
3Peripheral Nervous System AgentsPhase 222776
4abobotulinumtoxinAPhase 2626
5Neurotransmitter AgentsPhase 217734
6Pharmaceutical SolutionsPhase 2, Phase 17793
7Neuromuscular AgentsPhase 21129
8AnestheticsPhase 29001
9Botulinum Toxins, Type APhase 2630
10Botulinum ToxinsPhase 2669
11incobotulinumtoxinAPhase 2635
12Cholinergic AgentsPhase 23846
13
Miconazoleapproved, investigational, vet_approvedPhase 1362422916-47-84189
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-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]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-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)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-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
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)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
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
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
14
Sirolimusapproved, investigationalPhase 1189653123-88-95284616, 6436030, 46835353
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
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic 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
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
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
15
EverolimusapprovedPhase 11896159351-69-66442177
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-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
(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
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
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-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
Zortress
everolimus
16Immunosuppressive AgentsPhase 112770
17Antibiotics, AntitubercularPhase 16972
18Anti-Infective AgentsPhase 121402
19Anti-Bacterial AgentsPhase 110884
20Antifungal AgentsPhase 13615
21
Simvastatinapproved51079902-63-954454
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
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-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
BPBio1_001001
BRD-K22134346-001-05-8
BRN 4768037
BSPBio_000909
BSPBio_002337
Bio-0672
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
C25H38O5
CCRIS 7558
CHEBI:9150
CHEMBL1064
CID54454
CPD000718785
Cholestat
Coledis
Colemin
Corolin
D00434
D019821
DRG-0320
Denan
DivK1c_006991
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
KS-1113
Kolestevan
L 644128-000U
LS-46264
Labistatin
Lipex
Lipinorm
Liponorm
Lipovas
Lodales
MK 0733
MK 733
MK-0733
MK-733
MK733
MLS001304029
MLS001333077
MLS001333078
 
MLS002154038
Medipo
Modutrol
MolPort-002-507-345
MolPort-002-885-862
NCGC00017324-01
NCGC00017324-02
NCGC00017324-03
Nivelipol
Nor-Vastina
Pantok
Pepstatin
Prestwick0_000865
Prestwick1_000865
Prestwick2_000865
Prestwick3_000865
Prestwick_171
Rechol
Rendapid
S1792_Selleck
S6196_SIGMA
SAM002589969
SMR000718785
SPBio_001881
SPBio_002830
SPECTRUM1504236
STK801938
Simcor
Simovil
Simvast CR
Simvastatin
Simvastatin & Primycin
Simvastatin (JAN/USP/INN)
Simvastatin [USAN:INN:BAN]
Simvastatin [Usan:Ban:Inn]
Simvastatin lactone
Simvastatin, Compactin
Simvastatina
Simvastatina [Spanish]
Simvastatine
Simvastatine [French]
Simvastatinum
Simvastatinum [Latin]
Simvotin
Sinvacor
Sinvascor
Sivastin
SpecPlus_000895
Spectrum2_001671
Spectrum3_000669
Spectrum4_000632
Spectrum5_001428
Spectrum_001717
Statin
Synvinolin
TNP00259
UNII-AGG2FN16EV
Valemia
Vasotenal
Velostatin
Vytorin
ZINC03780893
Zocor
Zocor (TN)
Zocor, Simlup, Simcard, Simvacor, Simvoget, Zorced, Simvastatin
Zocord
[(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
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
nchembio790-comp16
simvastatin
22Hypolipidemic Agents2721
23Lipid Regulating Agents2702
24Hydroxymethylglutaryl-CoA Reductase Inhibitors1956
25Antimetabolites11774
26Anticholesteremic Agents1983
27Immunoglobulins6045
28Antibodies6045

Interventional clinical trials:

(show all 31)
idNameStatusNCT IDPhase
1Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia CongenitaUnknown statusNCT00936533Phase 2
2Phase 2 Study to Evaluate Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200 in Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)CompletedNCT01775462Phase 2
3A Phase 1, Open-label, Multicenter, Safety and Pharmacokinetic Study of EDI200CompletedNCT01564225Phase 1
4Topical Sirolimus for the Treatment of Pachyonychia Congenita (PC)CompletedNCT02152007Phase 1
5Study of TD101, a Small Interfering RNA (siRNA) Designed for Treatment of Pachyonychia CongenitaCompletedNCT00716014Phase 1
6Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal SkinRecruitingNCT02592954Phase 1
7Simvastatin Treatment of Pachyonychia CongenitaUnknown statusNCT01382511
8Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical PhenotypeCompletedNCT01398397
9Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial VariationCompletedNCT01386775
10Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - ACompletedNCT01293565
11Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal DysplasiaCompletedNCT01308333
12Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012)CompletedNCT01629927
13Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia: Evaluation of an Early Diagnosis Technology and Tests to Assess Nutritional StatusCompletedNCT01629940
14Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal DysplasiaCompletedNCT01109290
15Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal DysplasiaCompletedNCT01135888
16X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction SurveyCompletedNCT01398813
17Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal DysplasiaCompletedNCT01108770
18Phenotypic Properties in Individuals Affected With XLHEDCompletedNCT01871714
19Clinical Study of Oral Endosseous Titanium Implants in Edentulous SubjectsCompletedNCT00001211
20Sweat Duct Imaging in Mother/Newborn DyadsCompletedNCT01342133
21Natural History of Asphyxiating Thoracic Dystrophy (DTJ)CompletedNCT00948376
22Role of Pseudogene in Incontinentia Pigmenti, and Its Potential TreatmentCompletedNCT00976586
23Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)RecruitingNCT01630421
24Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
25International Pachyonychia Congenita Research RegistryRecruitingNCT02321423
26Study of Selected X-linked Disorders: Goltz SyndromeRecruitingNCT00691223
27Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal DysplasiaActive, not recruitingNCT02099552
28Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002Active, not recruitingNCT01992289
29Growth Arrest in Focal Dermal HypoplasiaActive, not recruitingNCT02463656
30Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63Not yet recruitingNCT02896387
31Studies of Disorders in Antibody Production and Related Primary Immunodeficiency StatesTerminatedNCT00266513

Search NIH Clinical Center for Ectodermal Dysplasia

Genetic Tests for Ectodermal Dysplasia

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Anatomical Context for Ectodermal Dysplasia

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MalaCards organs/tissues related to Ectodermal Dysplasia:

36
Skin, Bone, Testes, T cells, Eye, Brain, Salivary gland

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Ectodermal Dysplasia:
id TissueAnatomical CompartmentCell Relevance
1 EpidermisEmbryonic EpidermisBasal Keratinocytes Affected by disease
2 EpidermisStratified EpidermisCorneocytes Affected by disease
3 EpidermisStratified EpidermisGranular Keratinocytes Affected by disease
4 EpidermisStratified EpidermisSpinous Keratinocytes Affected by disease

Publications for Ectodermal Dysplasia

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Articles related to Ectodermal Dysplasia:

(show top 50)    (show all 887)
idTitleAuthorsYear
1
Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia. (28045201)
2017
2
The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia. (27168349)
2016
3
Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome. (27151912)
2016
4
Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients. (27657131)
2016
5
Anticipated stigma and blameless guilt: Mothers' evaluation of life with the sex-linked disorder, hypohidrotic ectodermal dysplasia (XHED). (27140840)
2016
6
Image Gallery: Periorbital and temporal dermal melanocytosis of hypohidrotic ectodermal dysplasia. (27996143)
2016
7
OCULAR FINDINGS IN A PATIENT WITH ECTODERMAL DYSPLASIA. (27930433)
2016
8
Hypohidrotic ectodermal dysplasia: A report of two cases. (27264909)
2016
9
Ectodermal dysplasia with immunodeficiency caused by a branch-point mutation in IKBKG/NEMO. (27477329)
2016
10
Ectodermal Dysplasia: Management of Knife-Edged Irregular Ridge and Its Rehabilitation with Hybrid Implant Prosthesis. (27437373)
2016
11
Genetic Disorders with Dyshidrosis: Ectodermal Dysplasia, Incontinentia Pigmenti, Fabry Disease, and Congenital Insensitivity to Pain with Anhidrosis. (27584961)
2016
12
Topical cetirizine and oral vitamin D: a valid treatment for hypotrichosis caused by ectodermal dysplasia. (27504742)
2016
13
Keratoprosthesis in Ectodermal Dysplasia. (27149534)
2016
14
Acquired Dermal Melanocytosis Occurring in a Patient with Hypohidrotic Ectodermal Dysplasia. (27904288)
2016
15
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. (27137747)
2016
16
A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype. (27449516)
2016
17
Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome. (27485918)
2016
18
Tissue expansion for correction of alopecia in a child with hypohidrotic ectodermal dysplasia. (27177435)
2016
19
BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency. (27411570)
2016
20
A novel large deletion that encompasses EDA and the downstream gene AWAT2 causes X-linked hypohidrotic/anhidrotic ectodermal dysplasia. (27443954)
2016
21
Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation. (26964878)
2016
22
A novel EDARADD 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia. (26991760)
2016
23
Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1. (27554337)
2016
24
Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathology. (27378689)
2016
25
Clinical outcomes of implant therapy in ectodermal dysplasia patients: a systematic review. (27052318)
2016
26
Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families. (27049303)
2016
27
KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia. (27838789)
2016
28
High-Potency Topical Steroids: An Effective Therapy for Chronic Scalp Inflammation in Rapp-Hodgkin Ectodermal Dysplasia. (26861896)
2016
29
A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID). (27368913)
2016
30
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements. (27305980)
2016
31
Erratum: Dental management of hypohidrotic ectodermal dysplasia: A report of two cases. (27041918)
2016
32
Prosthetic Management of a Child with Hypohidrotic Ectodermal Dysplasia: 6-Year Follow-Up. (27822392)
2016
33
Conventional Complete Denture in Patients with Ectodermal Dysplasia. (26425372)
2015
34
Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly. (26655010)
2015
35
Successful cardiac transplantation in an 11-year-old boy with ectodermal dysplasia and dilated cardiomyopathy. (25695779)
2015
36
Molecular basis of hypohidrotic ectodermal dysplasia: an update. (26294279)
2015
37
Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient. (25913853)
2015
38
Mini-implants: alternative for oral rehabilitation of a child with ectodermal dysplasia. (25672389)
2015
39
Dental Implant Therapy for a Child with X-linked Hypohidrotic Ectodermal Dysplasia--Three Decades of Managed Care. (26218015)
2015
40
X-linked ectodermal dysplasia receptor (XEDAR) gene silencing prevents caspase-3-mediated apoptosis in SjAPgren's syndrome. (26659383)
2015
41
Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: Delineation of cerebro-dermato-osseous-dysplasia. (25708316)
2015
42
Six-Year Survival of a Mini Dental Implant-Retained Overdenture in a Child with Ectodermal Dysplasia. (26418841)
2015
43
A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome. (25983622)
2015
44
Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene. (26470833)
2015
45
Perinatal Autopsy Findings in a Case of De Novo Hypohidrotic Ectodermal Dysplasia. (26417167)
2015
46
Ectodermal Dysplasia-Skin Fragility Syndrome: A Rare Case Report. (26288439)
2015
47
Amino-terminal residues of I9Np63, mutated in ectodermal dysplasia, are required for its transcriptional activity. (26408908)
2015
48
Full Mouth Implant-supported Rehabilitation of a Patient with Ectodermal Dysplasia: Clinical Report and Literature Review. (26242009)
2015
49
Unusual manifestations of ectodermal dysplasia-syndactyly syndrome type I in two Yemeni siblings. (25612123)
2015
50
Restoration of Atrophic Edentulous Maxilla of a Patient with Ectodermal Dysplasia Using Quadruple Zygomatic Implants: A Case Report. (26225088)
2015

Variations for Ectodermal Dysplasia

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Expression for genes affiliated with Ectodermal Dysplasia

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Search GEO for disease gene expression data for Ectodermal Dysplasia.

Pathways for genes affiliated with Ectodermal Dysplasia

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GO Terms for genes affiliated with Ectodermal Dysplasia

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1pigmentationGO:004347310.5EDA, EDAR
2positive regulation of NF-kappaB import into nucleusGO:004234610.5EDA, EDAR
3salivary gland cavitationGO:006066210.5EDA, EDAR
4hair follicle developmentGO:000194210.4EDAR, TP63
5positive regulation of I-kappaB kinase/NF-kappaB signalingGO:004312310.1EDA, EDAR, IKBKG
6odontogenesis of dentin-containing toothGO:004247510.1EDA, EDAR, TP63
7positive regulation of NF-kappaB transcription factor activityGO:005109210.0EDA, IKBKG, NFKBIA
8adherens junction organizationGO:00343329.9CDH3, NECTIN1
9positive regulation of keratinocyte proliferationGO:00108389.8CDH3, TP63
10cell differentiationGO:00301549.5EDA, EDAR, EDARADD, TP63
11single organismal cell-cell adhesionGO:00163379.3CDH3, NECTIN1, PKP1
12tumor necrosis factor-mediated signaling pathwayGO:00332099.2EDA, EDAR, EDARADD
13apoptotic processGO:00069159.1EDAR, GJB6, IKBKG, NFKBIA, TP63

Sources for Ectodermal Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet