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, t cells and breast, 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 232)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant33.8EDAR, EDARADD
2ectodermal dysplasia, hypohidrotic, with immune deficiency33.8EDA, IKBKG
3ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive33.7EDAR, EDARADD
4ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant33.7EDAR, EDARADD
5hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia33.7EDAR, EDARADD
6ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive33.3EDA, EDAR, EDARADD, IKBKG
7anhidrosis29.7EDA, EDAR, EDARADD, TP63
8ectodermal dysplasia/skin fragility syndrome12.3
9ectodermal dysplasia 2, clouston type12.3
10cleft lip/palate-ectodermal dysplasia syndrome12.3
11ectodermal dysplasia, ectrodactyly, and macular dystrophy12.3
12ectodermal dysplasia 3, witkop type12.2
13ectodermal dysplasia 4, hair/nail type12.2
14ectodermal dysplasia 1, hypohidrotic, x-linked12.2
15ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency12.2
16ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency12.1
17ectodermal dysplasia 7, hair/nail type12.1
18ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 312.1
19hypohidrotic ectodermal dysplasia autosomal recessive12.1
20ectodermal dysplasia-syndactyly syndrome 112.1
21hidrotic ectodermal dysplasia 212.1
22corneal intraepithelial dyskeratosis and ectodermal dysplasia12.1
23ectodermal dysplasia 9, hair/nail type12.1
24ectodermal dysplasia/short stature syndrome12.1
25hypohidrotic ectodermal dysplasia with immunodeficiency12.1
26ectodermal dysplasia berlin type12.0
27ectodermal dysplasia trichoodontoonychial type12.0
28ectodermal dysplasia-syndactyly syndrome12.0
29ectodermal dysplasia 5, hair/nail type12.0
30ectodermal dysplasia 6, hair/nail type12.0
31ectodermal dysplasia 8, hair/tooth/nail type12.0
32ectodermal dysplasia-cutaneous syndactyly syndrome12.0
33arthrogryposis and ectodermal dysplasia12.0
34cerebellar ataxia ectodermal dysplasia12.0
35arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay12.0
36ectodermal dysplasia-syndactyly syndrome 211.9
37congenital ectodermal dysplasia with hearing loss11.9
38ectodermal dysplasia adrenal cyst11.9
39ectodermal dysplasia mental retardation syndactyly11.9
40hypohidrotic ectodermal dysplasia, autosomal11.9
41ectodermal dysplasia alopecia preaxial polydactyly11.9
42ectodermal dysplasia blindness11.9
43ectodermal dysplasia with natal teeth turnpenny type11.9
44ectodermal dysplasia, hidrotic, christianson-fourie type11.9
45ectodermal dysplasia arthrogryposis diabetes mellitus11.9
46ectodermal dysplasia bartalos type11.9
47ectodermal dysplasia intellectual disability cns malformation11.9
48ectodermal dysplasia margarita type11.9
49ectodermal dysplasia neurosensory deafness11.9
50ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features11.9

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, T cells, Breast, Liver, Endothelial, Thyroid, Lung

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 867)
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
Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly. (26655010)
2015
4
One Mutation of the ED1 Gene in a Chinese Han Family with X-Linked Hypohidrotic Ectodermal Dysplasia. (24648697)
2014
5
Ectodermal dysplasia associated with sickle cell disease. (25343049)
2014
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
Anhidrotic ectodermal dysplasia with palmoplantar keratoderma: an unusual presentation. (17550568)
2007
23
Dental findings in patients with ectodermal dysplasia. (16953354)
2006
24
The management of ectodermal dysplasia and severe hypodontia. International conference statements. (16922735)
2006
25
New genes candidates for ectodermal dysplasia: TAB2, TRAF6 and TAK1]. (16527194)
2006
26
Ectrodactyly, ectodermal dysplasia, macular degeneration syndrome: a further contribution. (16970031)
2006
27
Soft tissue facial angles in individuals with ectodermal dysplasia: A three-dimensional noninvasive study. (16681407)
2006
28
Hay-wells syndrome of ectodermal dysplasia. (16444073)
2006
29
Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome. (16121056)
2005
30
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
31
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. (15213106)
2004
32
Osseointegrated implants in the oral rehabilitation of a patient with cleft lip and palate and ectodermal dysplasia: a case report. (15623068)
2004
33
Craniofacial anthropometric pattern profile in hypohidrotic ectodermal dysplasia--application in detection of gene carriers. (14746168)
2003
34
A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. (12788524)
2003
35
Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasia. (12225002)
2002
36
Hypohidrotic ectodermal dysplasia: dental, clinical, genetic and dermatoglyphic findings of three cases. (11688814)
2001
37
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. (11224521)
2001
38
The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia. (11295832)
2001
39
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
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

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