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

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: 4/27/2011

MalaCards based summary: Ectodermal Dysplasia is related to ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant and hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia, 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, bone and t cells, and related mouse phenotypes are pigmentation and craniofacial.

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 272)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant31.2EDAR, EDARADD
2hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia31.1EDAR, EDARADD
3ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant31.0EDAR, EDARADD
4ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive31.0EDAR, EDARADD
5ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive30.9EDA, EDAR, EDARADD, IKBKG, NFKBIA
6syndactyly30.9EDA, EDAR, EDARADD
7anhidrosis30.2EDA, EDAR, EDARADD, TP63
8eec syndrome10.8
9ectodermal dysplasia, hypohidrotic, with immune deficiency10.8
10anodontia10.8
11ectodermal dysplasia 1, hypohidrotic, x-linked10.8
12cleft lip10.8
13ectodermal dysplasia 2, clouston type10.8
14ectodermal dysplasia/skin fragility syndrome10.8
15rapp-hodgkin syndrome10.7
16ectodermal dysplasia, ectrodactyly, and macular dystrophy10.7
17arthrogryposis and ectodermal dysplasia10.6
18cleft lip/palate-ectodermal dysplasia syndrome10.6
19ectodermal dysplasia 4, hair/nail type10.6
20ectodermal dysplasia 3, witkop type10.6
21ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 310.6
22ectodermal dysplasia 7, hair/nail type10.6
23skin conditions10.6
24skin disease10.6
25x-linked disease10.6
26hidrotic ectodermal dysplasia 210.6
27arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay10.6
28ectodermal dysplasia 9, hair/nail type10.6
29ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency10.6
30hypohidrotic ectodermal dysplasia autosomal recessive10.6
31focal facial dermal dysplasia 3, setleis type10.5
32ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency10.5
33immunodeficiency, isolated10.5
34ectodermal dysplasia-syndactyly syndrome 110.5
35hypotrichosis10.5
36cerebellar ataxia ectodermal dysplasia10.5
37congenital ectodermal dysplasia with hearing loss10.5
38ectodermal dysplasia - syndactyly syndrome10.5
39ectodermal dysplasia 5, hair/nail type10.5
40corneal intraepithelial dyskeratosis and ectodermal dysplasia10.5
41ectodermal dysplasia 6, hair/nail type10.5
42hay-wells syndrome10.5
43aredyld10.5
44ectrodactyly and ectodermal dysplasia without cleft lip/palate10.5
45ellis-van creveld syndrome10.4
46ectodermal dysplasia-syndactyly syndrome 210.4
47ectodermal dysplasia/short stature syndrome10.4
48ectodermal dysplasia 8, hair/tooth/nail type10.4
49incontinentia pigmenti10.4
50alopecia10.4

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 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Verteporfinapproved, investigationalPhase 382129497-78-55362420
Synonyms:
Verteporfin
Verteporfina
 
Verteporfinum
Vertéporfine
Visudyne
2
Tazaroteneapproved, investigationalPhase 238118292-40-35381
Synonyms:
118292-40-3
3-Pyridinecarboxylic acid, 6-((3,4-dihydro-4,4-dimethyl-2H-1-benzothiopyran-6-yl)ethynyl)-, ethyl ester
3-Pyridinecarboxylic acid, 6-((3,4-dihydro-4,4-dimethyl-2H-1-benzothiopyran-6-yl)ethynyl)-,ethyl ester
AC-755
AC1L1K88
AGN 190168
AGN-190168
Avage
Avage (TN)
BIDD:GT0293
C086827
C12531
C21H21NO2S
CHEBI:32184
CHEMBL1657
CID5381
D01132
DB00799
Ethyl 6-((4,4-dimethylthiochroman-6-yl)ethynyl)nicotinate
Fabior
I14-1992
 
LS-130838
MolPort-005-932-693
NCGC00167525-01
S1569_Selleck
S1684_Selleck
Suretin
Tazarotene
Tazarotene (JAN/USAN/INN)
Tazarotene [USAN:INN]
Tazaroteno
Tazarotenum
Tazorac
Tazorac, Avage, Zora, Tazarotene
Tazoral
UNII-81BDR9Y8PS
ZINC01542199
Zorac
ethyl 6-(2-(4,4-dimethylthiochroman-6-yl)ethynyl)nicotinate
ethyl 6-[(4,4-dimethyl-3,4-dihydro-2H-thiochromen-6-yl)ethynyl]nicotinate
ethyl 6-[2-(4,4-dimethyl-2,3-dihydrothiochromen-6-yl)ethynyl]pyridine-3-carboxylate
tazarotene
tazaroteno
tazarotenum
3
Aminolevulinic acidapprovedPhase 2128106-60-5137
Synonyms:
106-60-5
35BEC718-C970-426A-9859-BF58284C60B4
5-ALA
5-Amino-4-oxo-Pentanoate
5-Amino-4-oxo-Pentanoic acid
5-Amino-4-oxopentanoate
5-Amino-4-oxopentanoic acid
5-Amino-4-oxovalerate
5-Amino-4-oxovaleric acid
5-Amino-Levulinate
5-Amino-Levulinic acid
5-Aminolaevulinate
5-Aminolaevulinic acid
5-Aminolevulinate
5-Aminolevulinate hydrochloride
5-Aminolevulinic acid
5-amino-levulinate
5451-09-2
AC-054
AC1L18K9
AKOS003587520
ALA
ALA-PDT
Aladerm
Amino-levulinic acid
Aminolevulinate
Aminolevulinic
Aminolevulinic acid
BIDD:GT0260
BSPBio_003407
C00430
CCRIS 8958
CHEBI:17549
CHEMBL601
CID137
CPD000857229
 
D07567
DALA
DB00855
DivK1c_006954
EINECS 203-414-1
I14-10101
KBio1_001898
KBio2_002062
KBio2_004630
KBio2_007198
KBio3_002627
KBioGR_001176
KBioSS_002062
Kerastick
LMFA01100055
LS-101793
Levulan Kerastick
Levulinic acid, 5-amino- (8CI)
MLS001333097
MLS001333098
MolPort-001-788-423
NCGC00178086-01
Pentanoic acid, 5-amino-4-oxo- (9CI)
SAM002589919
SMR000857229
SPBio_001843
ST50819610
SpecPlus_000858
Spectrum2_001662
Spectrum3_001654
Spectrum4_000618
Spectrum5_001505
Spectrum_001582
UNII-88755TAZ87
delta-ALA
delta-Aminolevulinate
delta-Aminolevulinic acid
delta-aminolevulinic acid
4
Celecoxibapproved, investigationalPhase 2395169590-42-52662
Synonyms:
169590-42-5
184007-95-2
1oq5
4-(5-(4-Methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)benzenesulfonamide
4-[5-(4-METHYLPHENYL)-3-(TRIFLUOROMETHYL)-1H-PYRAZOL-1-YL]BENZENESULFONAMIDE
4-[5-(4-methylphenyl)-3-(trifluoromethyl)-1Hpyrazol-1-yl] benzenesulfonamide
4-[5-(4-methylphenyl)-3-(trifluoromethyl)pyrazol-1-yl]benzenesulfonamide
AC-4228
AC1L1E6K
AI-525
BIDD:GT0408
BRD-K02637541-001-02-4
BSPBio_003596
Benzenesulfonamide,4-(5-(4-methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)
C07589
C105934
C17H14F3N3O2S
CCRIS 8679
CEL
CEP-33222
CHEBI:41423
CHEMBL118
CID2662
CPD000550473
Celebra
Celebrex
Celebrex (TN)
Celebrex, Celebra, Celecoxib
Celecox
Celecoxi
Celecoxib
Celecoxib (JAN/USAN/INN)
Celecoxib (SC-58635)
Celecoxib [Old RN]
Celecoxib [USAN]
Celecoxibum
Celocoxib
Célécoxib
D00567
DB00482
DivK1c_000893
Eurocox
FT-0080064
HMS1922G14
HMS2089L18
HMS2093I07
HMS502M15
HSDB 7038
I01-1033
IDI1_000893
KBio1_000893
KBio2_000912
 
KBio2_002351
KBio2_003480
KBio2_004919
KBio2_006048
KBio2_007487
KBio3_002830
KBio3_003037
KBioGR_000723
KBioGR_002351
KBioSS_000912
KBioSS_002354
LS-31667
MLS001165684
MLS001195656
MLS001304708
Medicoxib
MolPort-002-885-815
NCGC00091455-01
NCGC00091455-02
NCGC00091455-03
NCGC00091455-04
NCI60_041049
NINDS_000893
NSC719627
Onsenal
P-(5-P-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
Pfizer brand of celecoxib
S1261_Selleck
SAM002589995
SC 58635
SC-58553, SC-58635
SC-58635
SC58635
SMR000550473
SPBio_001512
SPECTRUM1503678
Solexa
Spectrum2_001576
Spectrum3_001996
Spectrum4_000182
Spectrum5_001324
Spectrum_000432
TL8001323
TPI-336
UNM-0000305813
Xilebao
YM 177
YM-177
YM177
ZINC02570895
cMAP_000027
celecoxib
p-(5-p-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
5
Sirolimusapproved, investigationalPhase 1, Phase 2174253123-88-95284616, 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
6
EverolimusapprovedPhase 1, Phase 21742159351-69-66442177
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
7
Miconazoleapproved, investigationalPhase 1, Phase 2291222916-47-84189
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
8
Itraconazoleapproved, investigationalPhase 212384625-61-655283
Synonyms:
(+-)-1-sec-Butyl-4-(p-(4-(p-(((2R*,4S*)-2-(2,4-dichlorophenyl)-2-(1H-1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl)methoxy)phenyl)-1-piperazinyl)phenyl)-delta(sup 2)-1,2,4-triazolin-5-one
(+/-)-1-[( R *)- sec -butyl]-4-[ p -[4-[ p -[[(2 R *,4 S *)-2-(2,4-dichlorophenyl)-2-(1 H -1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]-1-piperazinyl]phenyl]-(DELTA) 2 1,2,4-triazolin-5-one mixture with (+/-)-1-[( R *)- sec -butyl]-4-[ p -[4- [ p -[[(2 S *,4 R *)-2-(2,4-dichlorophenyl)-2-(1 H -1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]-1-piperazinyl] phenyl]-(DELTA) 2 -1,2,4-triazolin-5-one
(1)-cis-4-(4-(4-(4-((2-(2,4-Dichlorophenyl)-2-(1H-1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl)methoxy)phenyl)piperazin-1-yl)phenyl)-2,4-dihydro-2-sec-butyl-3H-1,2,4-triazol-3-one
2-(butan-2-yl)-4-{4-[4-(4-{[(2R,4S)-2-(2,4-dichlorophenyl)-2-(1H-1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazin-1-yl]phenyl}-2,4-dihydro-3H-1,2,4-triazol-3-one
2-butan-2-yl-4-[4-[4-[4-[[(2R,4S)-2-(2,4-dichlorophenyl)-2-(1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]piperazin-1-yl]phenyl]-1,2,4-triazol-3-one
2-butan-2-yl-4-[4-[4-[4-[[(2S,4R)-2-(2,4-dichlorophenyl)-2-(1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]piperazin-1-yl]phenyl]-1,2,4-triazol-3-one
2-butan-2-yl-4-[4-[4-[4-[[2-(2,4-dichlorophenyl)-2-(1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]piperazin-1-yl]phenyl]-1,2,4-triazol-3-one
3H-1,2,4-Triazol-3-one, 4-[4-[4-[4-[[2-(2,4-dichlorophenyl)-2-(1H-1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]-1-pipera-zinyl]phenyl]-2,4-dihydro-2-(1-methylpropyl)
4-(4-{4-[4-({[(2R,4S)-2-(2,4-dichlorophenyl)-2-(1H-1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methyl}oxy)phenyl]piperazin-1-yl}phenyl)-2-(1-methylpropyl)-2,4-dihydro-3H-1,2,4-triazol-3-one
84604-65-9
84625-61-6
AC-542
AC1L1GQ5
AC1L1IRU
AC1OCEL7
AC1Q6EZ3
AKOS000280875
Ambap84625-61-6
BIDD:GT0796
BRN 6042047
C35H38Cl2N8O4
CHEBI:6076
CHEMBL22587
CHEMBL882
CID3793
CID55283
CID6917738
CID9961741
CPD000058959
Canadiol
D00350
DB01167
EINECS 283-347-2
FT-0082511
HMS2051K14
HMS2090M20
Hyphanox
I01-1043
I0732
ITC
ITCZ
ITZ
Intraconazole
 
Itraconazol
Itraconazol [Spanish]
Itraconazole
Itraconazole & Bovine Lactoferrin
Itraconazole & Nyotran
Itraconazole & Nyotran(Liposomal Nystatin)
Itraconazole (JAN/USAN)
Itraconazole [USAN:BAN:INN:JAN]
Itraconazole oral solution
Itraconazolum
Itraconazolum [Latin]
Itrizole
Itrizole (TN)
Itrizole (tn)
LS-1843
MLS000028582
MLS000759472
MLS000863291
MLS001148245
MolPort-000-883-864
MolPort-003-848-295
NCGC00089812-03
Onmel
Oriconazole
Oriconazole, R51211, Sporanox
Orungal
Prokanazol
R 51211
R-51211
S2476_Selleck
SAM001246679
SMR000058959
Sempera
Spherazole
Sporal
Sporanos
Sporanox
Sporanox (TN)
Sporanox (tn)
Sporonox
TL8005525
Triasporn
UNII-304NUG5GF4
cis-Itraconazole
itraconazole
9Cyclooxygenase 2 InhibitorsPhase 2517
10Botulinum Toxins, Type APhase 2561
11HydroxyitraconazolePhase 2123
12Botulinum ToxinsPhase 2590
13
Isotretinoinapproved1104759-48-25538, 5282379
Synonyms:
(13-cis)-Retinoate
(13-cis)-Retinoic acid
(13cis)-retinoic acid
(2Z,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraenoic acid
(2Z,4E6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid
(7E,9E,11E,13Z)-retinoic acid
(7e,9e,11e,13Z)-Retinoic acid
13 Cis-Retinoic Acid
13 cis retinoic acid
13-RA
13-cis RA
13-cis retinoic acid
13-cis-Retinoate
13-cis-Retinoic acid
13-cis-Vitamin A acid
13-cis-Vitamin a acid
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)2-cis-4-trans-6-trans-8-trans-nonatetraenoic acid
4-09-00-02388 (Beilstein Handbook Reference)
4759-48-2
97950-17-9
AC-15388
AC1NQZZ4
Absorica
Accutane
Accutane (TN)
Ambap302-79-4
Amnesteem
BML2-E07
BPBio1_000080
BRD-K76723084-001-05-9
BRN 1885770
BSPBio_000072
BSPBio_001331
BSPBio_003345
CCRIS 4286
CHEBI:6067
CHEMBL547
CID5282379
CIP-Isotretinoin
CPD000471891
Claravis
Clarus
D00348
D015474
EINECS 225-296-0
EU-0101081
Epuris
HMS1361C13
HMS1568D14
HMS1791C13
HMS1921D08
HMS1989C13
HMS2092N07
HSDB 3929
IDI1_033801
Isotane
Isotretinoin
Isotretinoin (USP)
 
Isotretinoin Retinoic acid
Isotretinoin Zinc Salt, 13 cis Isomer
Isotretinoin Zinc Salt, 13-cis-Isomer
Isotretinoin [USAN:BAN:INN]
Isotretinoin [USAN:INN:BAN]
Isotretinoina
Isotretinoine
Isotretinoine [INN-French]
Isotretinoino
Isotretinoino [INN-Spanish]
Isotretinoinum
Isotretinoinum [INN-Latin]
Isotrex
LMPR01090021
LS-143465
Lopac0_001081
MLS001074662
MolPort-003-666-394
Myorisan
NCGC00094358-01
NCGC00094358-02
NCGC00094358-03
NCGC00094358-04
NCGC00094358-05
NCGC00094358-06
NCGC00094358-07
NCGC00094358-08
NCGC00094358-09
NCGC00094358-13
Neovitamin A acid
Neovitamin a acid
Prestwick2_000256
Prestwick3_000256
Prestwick_642
R 3255
R3255_SIGMA
Retinoate
Retinoic acid
Ro 4 3780
Ro 4-3780
Ro 43780
Ro-4-3780
Ro-43780
Roaccutan
Roaccutane
Roacutan
SAM002548955
SMR000471891
SPECTRUM1502013
Sotret
Sotret (TN)
Spectrum5_001795
Spectrum5_001937
Teriosal
UNII-EH28UP18IF
Zenatane
cis-RA
cis-Retinoate
cis-Retinoic acid
isotretinoino
14
Simvastatinapproved48279902-63-954454
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

Interventional clinical trials:

(show all 45)
idNameStatusNCT IDPhase
1Two Studies to Determine if Verteporfin PDT is Effective & Safe in Treating Multiple Basal Cell Carcinoma of the Skin.TerminatedNCT00049959Phase 3
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
3Topical Sirolimus for the Treatment of Pachyonychia Congenita (PC)CompletedNCT02152007Phase 1, Phase 2
4Trial Comparing the Effects of Intermittent Vismodegib vs. PDT in Patients With Multiple Basal Cell CarcinomasCompletedNCT01556009Phase 2
5Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS)CompletedNCT01350115Phase 2
6A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome PatientsCompletedNCT00961896Phase 2
7To Determine The Efficacy and Safety of GDC-0449 in Patients With Basal Cell Nevus Syndrome (BCNS)CompletedNCT00957229Phase 2
8Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the Chest and BackCompletedNCT00783965Phase 2
9Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the FaceCompletedNCT00489086Phase 2
10Celecoxib in Preventing Basal Cell Carcinoma in Patients With Basal Cell Nevus SyndromeCompletedNCT00023621Phase 2
11Open-label Trial of SUBA™-Itraconazole (SUBA-Cap) in Subjects With Basal Cell Carcinoma Nevus Syndrome (BCCNS)RecruitingNCT02354261Phase 2
12Photodynamic Therapy Using Blue Light or Red Light in Treating Basal Cell Carcinoma in Patients With Basal Cell Nevus SyndromeRecruitingNCT02258243Phase 2
13Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia CongenitaRecruitingNCT00936533Phase 2
14A Phase 1, Open-label, Multicenter, Safety and Pharmacokinetic Study of EDI200CompletedNCT01564225Phase 1
15Study of TD101, a Small Interfering RNA (siRNA) Designed for Treatment of Pachyonychia CongenitaCompletedNCT00716014Phase 1
16Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal SkinRecruitingNCT02592954Phase 1
17Topical Sirolimus in Patients With Basal Cell Nevus Syndrome and in Healthy ParticipantsActive, not recruitingNCT00433485Phase 1
18Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical PhenotypeCompletedNCT01398397
19Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012)CompletedNCT01629927
20Phenotypic 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
21Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial VariationCompletedNCT01386775
22Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - ACompletedNCT01293565
23Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal DysplasiaCompletedNCT01135888
24X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction SurveyCompletedNCT01398813
25Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal DysplasiaCompletedNCT01308333
26Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal DysplasiaCompletedNCT01108770
27Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal DysplasiaCompletedNCT01109290
28Phenotypic Properties in Individuals Affected With XLHEDCompletedNCT01871714
29Clinical Study of Oral Endosseous Titanium Implants in Edentulous SubjectsCompletedNCT00001211
30Sweat Duct Imaging in Mother/Newborn DyadsCompletedNCT01342133
31Natural History of Asphyxiating Thoracic Dystrophy (DTJ)CompletedNCT00948376
32Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk PatientsCompletedNCT00555633
33Isotretinoin in Preventing Skin CancerCompletedNCT00025012
34Role of Pseudogene in Incontinentia Pigmenti, and Its Potential TreatmentCompletedNCT00976586
35Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002RecruitingNCT01992289
36Study of Selected X-linked Disorders: Goltz SyndromeRecruitingNCT00691223
37Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)RecruitingNCT01630421
38International Pachyonychia Congenita Research RegistryRecruitingNCT02321423
39Erismodegib and Buparlisib in Treating Patients With Advanced or Metastatic Basal Cell CarcinomaRecruitingNCT02303041
40Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal DysplasiaActive, not recruitingNCT02099552
41Study of BMS-833923 in Two Specific Patients With Basal Cell Nevus SyndromeActive, not recruitingNCT02100371
42Growth Arrest in Focal Dermal HypoplasiaEnrolling by invitationNCT02463656
43Blue vs Red Light During Levulan Based Photodynamic Therapy in Patients With Basal Cell Nevus SyndromeNot yet recruitingNCT02157623
44Simvastatin Treatment of Pachyonychia CongenitaNot yet recruitingNCT01382511
45Studies of Disorders in Antibody Production and Related Primary Immunodeficiency StatesTerminatedNCT00266513

Search NIH Clinical Center for Ectodermal Dysplasia

Genetic Tests for Ectodermal Dysplasia

About this section

Anatomical Context for Ectodermal Dysplasia

About this section

MalaCards organs/tissues related to Ectodermal Dysplasia:

33
Skin, Bone, T cells, Eye, Salivary gland, Brain, Testes

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

About this section

MGI Mouse Phenotypes related to Ectodermal Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1EDA, EDAR, EDARADD, IKBKG
2MP:00053828.0EDA, EDAR, EDARADD, PVRL1, TP63
3MP:00107717.2EDA, EDAR, EDARADD, IKBKG, NFKBIA, PVRL1

Publications for Ectodermal Dysplasia

About this section

Articles related to Ectodermal Dysplasia:

(show top 50)    (show all 834)
idTitleAuthorsYear
1
Conventional Complete Denture in Patients with Ectodermal Dysplasia. (26425372)
2015
2
Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia. (26273176)
2015
3
One Mutation of the ED1 Gene in a Chinese Han Family with X-Linked Hypohidrotic Ectodermal Dysplasia. (24648697)
2014
4
Ectodermal dysplasia associated with sickle cell disease. (25343049)
2014
5
Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia. (23613309)
2013
6
Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene. (22309335)
2012
7
Hypohidrotic ectodermal dysplasia. (23130287)
2012
8
De novo mutation of the bovine EDA gene associated with anhidrotic ectodermal dysplasia in Japanese Black cattle. (22497423)
2012
9
Prevalence of atopic disorders and immunodeficiency in patients with ectodermal dysplasia syndromes. (22626597)
2012
10
Bone microarchitecture at oral implant sites in ectodermal dysplasia (ED): a comparison between males and females. (22106965)
2012
11
Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia. (21771270)
2011
12
Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome. (20944926)
2010
13
Quantification of taurodontism: interests in the early diagnosis of hypohidrotic ectodermal dysplasia. (20374512)
2010
14
The contribution of orthodontics to the prosthodontic treatment of ectodermal dysplasia: a long-term clinical report. (21037191)
2010
15
A novel frameshift mutation of the EDA1 gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia. (18702659)
2009
16
A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma. (19716498)
2009
17
From ectodermal dysplasia to selective tooth agenesis. (19504606)
2009
18
Successful umbilical cord blood transplantation for intractable eczematous eruption in hypohidrotic ectodermal dysplasia with immunodeficiency. (19663838)
2009
19
Mutation screening of the ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. (18231121)
2008
20
Gene symbol: ED1. Disease: Ectodermal dysplasia. (18386310)
2008
21
Three-dimensional sonographic findings associated with ectrodactyly ectodermal dysplasia clefting syndrome. (18096742)
2008
22
Dental findings in patients with ectodermal dysplasia. (16953354)
2006
23
The management of ectodermal dysplasia and severe hypodontia. International conference statements. (16922735)
2006
24
New genes candidates for ectodermal dysplasia: TAB2, TRAF6 and TAK1]. (16527194)
2006
25
Ectrodactyly, ectodermal dysplasia, macular degeneration syndrome: a further contribution. (16970031)
2006
26
Soft tissue facial angles in individuals with ectodermal dysplasia: A three-dimensional noninvasive study. (16681407)
2006
27
Hay-wells syndrome of ectodermal dysplasia. (16444073)
2006
28
Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome. (16121056)
2005
29
Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome. (16159729)
2005
30
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. (15213106)
2004
31
Osseointegrated implants in the oral rehabilitation of a patient with cleft lip and palate and ectodermal dysplasia: a case report. (15623068)
2004
32
Craniofacial anthropometric pattern profile in hypohidrotic ectodermal dysplasia--application in detection of gene carriers. (14746168)
2003
33
A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. (12788524)
2003
34
Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasia. (12225002)
2002
35
Hypohidrotic ectodermal dysplasia: dental, clinical, genetic and dermatoglyphic findings of three cases. (11688814)
2001
36
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. (11224521)
2001
37
The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia. (11295832)
2001
38
Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia. (11343303)
2001
39
Hypohidrotic ectodermal dysplasia--a case report. (10863497)
1999
40
Distal arthrogryposis, ectodermal dysplasia and dilated cardiomyopathy--a new syndrome? (9689995)
1998
41
Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. (9245989)
1997
42
Anhidrotic ectodermal dysplasia associated with specific antibody deficiency. (8775234)
1996
43
Ectodermal dysplasia with corkscrew hairs: observation of probable autosomal dominant tricho-odonto-onychodysplasia with syndactyly. (8141890)
1994
44
Improved definition of carrier status in X-linked hypohidrotic ectodermal dysplasia by use of restriction fragment length polymorphism-based linkage analysis. (2564048)
1989
45
Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation. (3398005)
1988
46
Fever and hypotrichosis in a newborn. Anhidrotic ectodermal dysplasia (AED). (3777980)
1986
47
A dental approach to carrier screening in X linked hypohidrotic ectodermal dysplasia. (7334506)
1981
48
Hypohidrotic ectodermal dysplasia: a case report. (292770)
1979
49
Hypoplastic enamel, onycholysis, and hypohidrosis inherited as an autosomal dominant trait. A review of ectodermal dysplasia syndromes. (122795)
1975
50
Anodontia in hereditary ectodermal dysplasia. (18129730)
1949

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7IKBKG, NFKBIA
29.7IKBKG, NFKBIA
39.7IKBKG, NFKBIA
4
Apoptosis (WikiPathways)
Show member pathways
9.3IKBKG, NFKBIA
5
Show member pathways
9.1EDA, EDAR, IKBKG, NFKBIA
6
TNF Signaling (sino)
Show member pathways
8.8EDA, EDAR, IKBKG, NFKBIA

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
1cell-cell adherens junctionGO:00059139.1PVRL1, PVRL4

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1salivary gland cavitationGO:006066210.6EDA, EDAR
2positive regulation of NF-kappaB import into nucleusGO:004234610.4EDA, EDAR
3pigmentationGO:004347310.3EDA, EDAR
4trachea gland developmentGO:006115310.3EDA, EDARADD
5positive regulation of NF-kappaB transcription factor activityGO:00510929.9EDA, IKBKG, NFKBIA
6heterophilic cell-cell adhesion via plasma membrane cell adhesion moleculesGO:00071579.6PVRL1, PVRL4
7adherens junction organizationGO:00343329.6PVRL1, PVRL4
8cell recognitionGO:00080379.4PVRL1, PVRL4
9tumor necrosis factor-mediated signaling pathwayGO:00332099.4EDA, EDAR, EDARADD, IKBKG
10odontogenesis of dentin-containing toothGO:00424759.1EDA, EDAR, EDARADD, TP63
11cell differentiationGO:00301549.0EDA, EDAR, EDARADD, TP63
12hair follicle developmentGO:00019428.9EDA, EDAR, EDARADD, TP63
13signal transductionGO:00071658.0EDA, EDAR, EDARADD, PKP1, PVRL1
14apoptotic processGO:00069157.9EDAR, GJB6, IKBKG, NFKBIA, PKP1, TP63

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

idNameGO IDScoreTop Affiliating Genes
1receptor activityGO:00048728.8EDAR, PVRL1, PVRL4

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