Aliases & Classifications for Ectodermal Dysplasia

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Aliases & Descriptions for Ectodermal Dysplasia:

Name: Ectodermal Dysplasia 32 45 47 65

Classifications:



External Ids:

ICD1027 Q82.4
UMLS65 C0013575

Summaries for Ectodermal Dysplasia

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NIH Rare Diseases:45 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, hypohidrotic, with immune deficiency, 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 Canonical NF-kappaB pathway. Affiliated tissues include skin, breast and lung, and related mouse phenotypes are endocrine/exocrine gland and integument.

Wikipedia:68 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 642)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant34.3EDAR, EDARADD
2ectodermal dysplasia, hypohidrotic, with immune deficiency34.3EDA, IKBKG
3ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive34.2EDAR, EDARADD
4ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant34.1EDAR, EDARADD
5hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia34.1EDAR, EDARADD
6ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive34.0EDA, EDAR, EDARADD, IKBKG
7ectodermal dysplasia 2, clouston type12.7
8ectodermal dysplasia 3, witkop type12.6
9ectodermal dysplasia/skin fragility syndrome12.6
10cleft lip/palate-ectodermal dysplasia syndrome12.6
11ectodermal dysplasia 4, hair/nail type12.6
12ectodermal dysplasia 1, hypohidrotic, x-linked12.6
13ectodermal dysplasia, ectrodactyly, and macular dystrophy12.6
14ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency12.6
15ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency12.5
16ectodermal dysplasia 7, hair/nail type12.5
17ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 312.5
18hypohidrotic ectodermal dysplasia autosomal recessive12.5
19ectodermal dysplasia-syndactyly syndrome 112.5
20corneal intraepithelial dyskeratosis and ectodermal dysplasia12.5
21ectodermal dysplasia 9, hair/nail type12.5
22ectodermal dysplasia/short stature syndrome12.5
23ectodermal dysplasia berlin type12.4
24ectodermal dysplasia trichoodontoonychial type12.4
25ectodermal dysplasia 5, hair/nail type12.4
26ectodermal dysplasia 6, hair/nail type12.4
27ectodermal dysplasia 8, hair/tooth/nail type12.4
28arthrogryposis and ectodermal dysplasia12.4
29cerebellar ataxia ectodermal dysplasia12.4
30hidrotic ectodermal dysplasia 212.4
31arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay12.4
32ectodermal dysplasia-syndactyly syndrome 212.3
33congenital ectodermal dysplasia with hearing loss12.3
34ectodermal dysplasia adrenal cyst12.3
35ectodermal dysplasia mental retardation syndactyly12.3
36hypohidrotic ectodermal dysplasia, autosomal12.3
37hypohidrotic ectodermal dysplasia with immunodeficiency12.3
38ectodermal dysplasia alopecia preaxial polydactyly12.3
39ectodermal dysplasia blindness12.3
40ectodermal dysplasia with natal teeth turnpenny type12.3
41ectodermal dysplasia, hidrotic, christianson-fourie type12.3
42ectodermal dysplasia-syndactyly syndrome12.3
43ectodermal dysplasia-cutaneous syndactyly syndrome12.3
44ectodermal dysplasia arthrogryposis diabetes mellitus12.2
45ectodermal dysplasia bartalos type12.2
46ectodermal dysplasia intellectual disability cns malformation12.2
47ectodermal dysplasia margarita type12.2
48ectodermal dysplasia neurosensory deafness12.2
49ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features12.2
50ectrodactyly and ectodermal dysplasia without cleft lip/palate12.2

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



Diseases related to ectodermal dysplasia

Symptoms for Ectodermal Dysplasia

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HPO human phenotypes related to Ectodermal Dysplasia:

(show all 36)
id Description Frequency HPO Source Accession
1 dry skin hallmark (90%) HP:0000958
2 slow-growing hair hallmark (90%) HP:0002217
3 abnormality of dental morphology hallmark (90%) HP:0006482
4 abnormality of the toenails hallmark (90%) HP:0008388
5 abnormal hair quantity hallmark (90%) HP:0011362
6 abnormality of nail color hallmark (90%) HP:0100643
7 oral cleft typical (50%) HP:0000202
8 frontal bossing typical (50%) HP:0002007
9 fine hair typical (50%) HP:0002213
10 aplasia/hypoplasia of the nipples typical (50%) HP:0006709
11 xerostomia occasional (7.5%) HP:0000217
12 everted lower lip vermilion occasional (7.5%) HP:0000232
13 sinusitis occasional (7.5%) HP:0000246
14 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
15 otitis media occasional (7.5%) HP:0000388
16 conductive hearing impairment occasional (7.5%) HP:0000405
17 visual impairment occasional (7.5%) HP:0000505
18 cataract occasional (7.5%) HP:0000518
19 photophobia occasional (7.5%) HP:0000613
20 acanthosis nigricans occasional (7.5%) HP:0000956
21 eczema occasional (7.5%) HP:0000964
22 palmoplantar keratoderma occasional (7.5%) HP:0000982
23 abnormality of skin pigmentation occasional (7.5%) HP:0001000
24 keratoconjunctivitis sicca occasional (7.5%) HP:0001097
25 hand polydactyly occasional (7.5%) HP:0001161
26 split hand occasional (7.5%) HP:0001171
27 seizures occasional (7.5%) HP:0001250
28 abnormality of the foot occasional (7.5%) HP:0001760
29 malignant hyperthermia occasional (7.5%) HP:0002047
30 pili torti occasional (7.5%) HP:0003777
31 finger syndactyly occasional (7.5%) HP:0006101
32 neoplasm of the skin occasional (7.5%) HP:0008069
33 feeding difficulties in infancy occasional (7.5%) HP:0008872
34 recurrent pharyngitis occasional (7.5%) HP:0100776
35 aplasia/hypoplasia of the eyebrow occasional (7.5%) HP:0100840
36 skin ulcer occasional (7.5%) HP:0200042

Drugs & Therapeutics for Ectodermal Dysplasia

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

(show all 24)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Sirolimusapproved, investigationalPhase 1, Phase 2179753123-88-95284616, 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
2
EverolimusapprovedPhase 1, Phase 21797159351-69-66442177
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
Afinitor Disperz
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
VOTUBIA
Zortress
everolimus
3
Miconazoleapproved, investigationalPhase 1, Phase 2302622916-47-84189
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
Desenex
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
Makesense
Micantin (nitrate)
Micatin
 
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
Oravig
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
Rash Relief Antifungal
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
4
AcetylcholineexperimentalPhase 268951-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
Miochol E
O-Acetylcholine
acetylcholine chloride
5Pharmaceutical SolutionsPhase 2, Phase 17004
6Anti-Bacterial AgentsPhase 1, Phase 29140
7Anti-Infective AgentsPhase 1, Phase 217220
8Antibiotics, AntitubercularPhase 1, Phase 25971
9Immunologic FactorsPhase 1, Phase 218483
10Antifungal AgentsPhase 1, Phase 23015
11Immunosuppressive AgentsPhase 1, Phase 210422
12Neurotransmitter AgentsPhase 214795
13OnabotulinumtoxinAPhase 2588
14Peripheral Nervous System AgentsPhase 218510
15Neuromuscular AgentsPhase 2922
16AnestheticsPhase 27385
17AbobotulinumtoxinAPhase 2588
18IncobotulinumtoxinAPhase 2599
19Botulinum ToxinsPhase 2616
20Cholinergic AgentsPhase 23243
21Botulinum Toxins, Type APhase 2588
22
Simvastatinapproved49379902-63-954454
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
23Immunoglobulins4477
24Antibodies4477

Interventional clinical trials:

(show all 29)
idNameStatusNCT IDPhase
1Phase 2 Study to Evaluate Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200 in Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)CompletedNCT01775462Phase 2
2Topical Sirolimus for the Treatment of Pachyonychia Congenita (PC)CompletedNCT02152007Phase 1, Phase 2
3Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia CongenitaRecruitingNCT00936533Phase 2
4A Phase 1, Open-label, Multicenter, Safety and Pharmacokinetic Study of EDI200CompletedNCT01564225Phase 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
7Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical PhenotypeCompletedNCT01398397
8Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012)CompletedNCT01629927
9Phenotypic 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
10Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial VariationCompletedNCT01386775
11Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - ACompletedNCT01293565
12Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal DysplasiaCompletedNCT01135888
13X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction SurveyCompletedNCT01398813
14Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal DysplasiaCompletedNCT01308333
15Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal DysplasiaCompletedNCT01108770
16Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal DysplasiaCompletedNCT01109290
17Phenotypic Properties in Individuals Affected With XLHEDCompletedNCT01871714
18Clinical Study of Oral Endosseous Titanium Implants in Edentulous SubjectsCompletedNCT00001211
19Sweat Duct Imaging in Mother/Newborn DyadsCompletedNCT01342133
20Natural History of Asphyxiating Thoracic Dystrophy (DTJ)CompletedNCT00948376
21Role of Pseudogene in Incontinentia Pigmenti, and Its Potential TreatmentCompletedNCT00976586
22Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)RecruitingNCT01630421
23International Pachyonychia Congenita Research RegistryRecruitingNCT02321423
24Study of Selected X-linked Disorders: Goltz SyndromeRecruitingNCT00691223
25Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal DysplasiaActive, not recruitingNCT02099552
26Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002Active, not recruitingNCT01992289
27Growth Arrest in Focal Dermal HypoplasiaActive, not recruitingNCT02463656
28Simvastatin Treatment of Pachyonychia CongenitaNot yet recruitingNCT01382511
29Studies 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:

33
Skin, Breast, Lung, Testes, Endothelial, Prostate, Thyroid

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

Animal Models for Ectodermal Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Ectodermal Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053796.9CDH3, EDAR, EDARADD, GJB6, IKBKG, NFKBIA
2MP:00107716.5CDH3, EDAR, EDARADD, GJB6, IKBKG, NECTIN1

Publications for Ectodermal Dysplasia

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Articles related to Ectodermal Dysplasia:

(show top 50)    (show all 845)
idTitleAuthorsYear
1
Clinical, biochemical, and molecular findings in a Colombian patient with Tay-Sachs disease. (26874567)
2016
2
Wolcott-Rallison syndrome with novel EIF2AK3 gene mutation. (27145240)
2016
3
Analysis of Intraoperative and Postoperative Complications in Pseudoexfoliation Eyes Undergoing Cataract Surgery. (27190848)
2016
4
Cuticular Defects in Oryza sativa ATP-binding Cassette Transporter G31 Mutant Plants Cause Dwarfism, Elevated Defense Responses and Pathogen Resistance. (27121976)
2016
5
Multiple microvenular hemangioma: A case report. (24348863)
2014
6
Monitoring the adequacy of surgical margins after resection of bone and soft-tissue sarcoma. (23370669)
2013
7
Development of a Semi-Automatic Segmentation Method for Retinal OCT Images Tested in Patients with Diabetic Macular Edema. (24386127)
2013
8
Postoperative neurological aggravation after anesthesia with sevoflurane in a patient with xeroderma pigmentosum: a case report. (23497518)
2013
9
The point prevalence of otitis media with effusion in secondary school children in Pokhara, Nepal: a cross-sectional study. (23899700)
2013
10
Inositol polyphosphate multikinase signaling in the regulation of metabolism. (23050966)
2012
11
Leiomyoma recurrent at the cervical stump: report of two cases. (22196264)
2012
12
Joint distraction results in clinical and structural improvement of haemophilic ankle arthropathy: a series of three cases. (22530605)
2012
13
Endothelial cell substrate stiffness influences neutrophil transmigration via myosin light chain kinase-dependent cell contraction. (21652678)
2011
14
Cannabis use and age at onset of psychosis: further evidence of interaction with COMT Val158Met polymorphism. (21231925)
2011
15
Lys98 substitution in human AP endonuclease 1 affects the kinetic mechanism of enzyme action in base excision and nucleotide incision repair pathways. (21912662)
2011
16
An angiomatoid fibrous histiocytoma over the left pre auricular region in a 13-year-old boy. (20492821)
2010
17
Dihydroceramide desaturase activity is modulated by oxidative stress. (20105137)
2010
18
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. (20358602)
2010
19
Sequential and gamma-secretase-dependent processing of the betacellulin precursor generates a palmitoylated intracellular-domain fragment that inhibits cell growth. (20530572)
2010
20
The LOX-1 scavenger receptor cytoplasmic domain contains a transplantable endocytic motif. (19358829)
2009
21
Single coronary artery anomaly: a report of three cases. (19155663)
2008
22
Rickets in the Middle East: role of environment and genetic predisposition. (18285415)
2008
23
What are the implications in individuals with unilateral vestibular schwannoma and other neurogenic tumors? (18173316)
2008
24
Pulmonary epithelioid hemangioendothelioma: report of three cases. (18751952)
2008
25
Lymphangiogenesis and angiogenesis in non-phymatous rosacea. (17880579)
2007
26
Expression of CD44s and CD44v6 in transitional cell carcinomas of the urinary bladder: comparison with tumour grade, proliferative activity and p53 immunoreactivity of tumour cells. (18092951)
2007
27
Oligomerization of signaling complexes by the multipoint binding of GRB2 to both LAT and SOS1. (16906159)
2006
28
JAK1 N-terminus binds to conserved Box 1 and Box 2 motifs of cytokine receptor common beta subunit but signal activation requires JAK1 C-terminus. (16767694)
2006
29
GREB 1 is a critical regulator of hormone dependent breast cancer growth. (15986123)
2005
30
Similarities in transcription factor IIIC subunits that bind to the posterior regions of internal promoters for RNA polymerase III. (15298704)
2004
31
Reference norms of IGF binding proteins in a healthy adult population in the Czech Republic]. (12688135)
2002
32
Myxobolus lentisuturalis sp. n. (Myxozoa: Myxobolidae), a new muscle-infecting species from the Prussian carp, Carassius gibelio from China. (12641197)
2002
33
Atypical calcific tendinitis with cortical erosions. (11271549)
2000
34
Hepatopulmonary syndrome in Gaucher disease with right-to-left shunt: evaluation and measurement using Tc-99m MAA. (10069725)
1999
35
Regulation of the gene for human dipeptidyl peptidase IV by hepatocyte nuclear factor 1 alpha. (9931303)
1999
36
Integration of Langerhans cells into a pigmented reconstructed human epidermis. (9326382)
1997
37
Receptor-mediated entry of hepatitis B virus particles into liver cells. (9349295)
1997
38
Comparative studies on differential inhibition of the renin - angiotensin system in the anesthetized guinea pig. (8748944)
1995
39
Synergistic effects of gamma interferon on inflammatory mediators that induce interleukin-6 gene expression and secretion by human retinal pigment epithelial cells. (8556503)
1994
40
Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene. (8040303)
1994
41
Serum transferrin receptor for assessment of iron status in healthy prepubertal and early pubertal boys. (8134170)
1993
42
Secretion and purification of hepatitis C virus NS1 glycoprotein produced by recombinant baculovirus-infected insect cells. (7686870)
1993
43
Hereditary cerebellar hypoplasia. (2002208)
1991
44
Somatostatin analog (SMS 201-995) inhibits the basal and angiotensin II-stimulated 3H-thymidine uptake by rat adrenal glands. (2306237)
1990
45
Cell-cycle defect of DNA repair in progeria skin fibroblasts. (2615778)
1989
46
Acute fatty liver of pregnancy. Description of a case of survival. (6713658)
1984
47
Myxedema and myotonic dystrophy. (5008040)
1972
48
Tropical fish aquariums. A source of Mycobacterium marinum infections resembling sporotrichosis. (5466918)
1970
49
Cavernous sinus thrombosis following extraction of tooth: report of case. (12991127)
1952
50

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

idNameGO IDScoreTop Affiliating Genes
1apical part of cellGO:00451779.9EDA, EDAR

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of NF-kappaB import into nucleusGO:004234610.5EDA, EDAR
2pigmentationGO:004347310.3EDA, EDAR
3toll-like receptor TLR1:TLR2 signaling pathwayGO:003812310.2IKBKG, NFKBIA
4toll-like receptor TLR6:TLR2 signaling pathwayGO:003812410.1IKBKG, NFKBIA
5positive regulation of I-kappaB kinase/NF-kappaB signalingGO:004312310.0EDA, EDAR, IKBKG
6odontogenesis of dentin-containing toothGO:00424759.8EDA, EDAR, TP63
7positive regulation of NF-kappaB transcription factor activityGO:00510929.7EDA, IKBKG, NFKBIA
8toll-like receptor 9 signaling pathwayGO:00341629.6IKBKG, NFKBIA
9cell junction assemblyGO:00343299.5CDH3, NECTIN1
10adherens junction organizationGO:00343329.4CDH3, NECTIN1
11toll-like receptor 5 signaling pathwayGO:00341469.4IKBKG, NFKBIA
12cell differentiationGO:00301549.2EDA, EDAR, EDARADD, TP63
13single organismal cell-cell adhesionGO:00163379.0CDH3, NECTIN1, PKP1
14positive regulation of gene expressionGO:00106289.0CDH3, EDA, EDAR
15apoptotic processGO:00069159.0EDAR, GJB6, NFKBIA, TP63
16signal transductionGO:00071658.3EDA, EDAR, EDARADD, NECTIN1, PKP1

Sources for Ectodermal Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet