Aliases & Classifications for Ectodermal Dysplasia

About this section

Aliases & Descriptions for Ectodermal Dysplasia:

Name: Ectodermal Dysplasia 33 46 48 66

Classifications:



External Ids:

ICD1028 Q82.4

Summaries for Ectodermal Dysplasia

About this section
NIH Rare Diseases:46 Ectodermal dysplasias (ed) are a group of about 150 heritable disorders that affect the ectoderm, a layer of tissue that contributes to the formation of many parts of the body, including the skin, sweat glands, hair, teeth, and nails. symptoms can range from mild to severe and may include dental abnormalities; brittle, sparse or absent hair; abnormal fingernails; inability to perspire (hypohidrosis); various skin problems; and other symptoms. different types of ectodermal dysplasias are caused by mutations in different genes, and can be inherited in a variety of ways. there are no cures for ed, but many treatments are available to address the individual symptoms. last updated: 5/23/2016

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

Wikipedia:69 Ectodermal dysplasia is not a single disorder, but a group of syndromes all deriving from abnormalities... more...

Related Diseases for Ectodermal Dysplasia

About this section

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

(show top 50)    (show all 227)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant33.5EDAR, EDARADD
2ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant33.4EDAR, EDARADD
3ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive33.3EDAR, EDARADD
4ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive33.1EDA, EDAR, EDARADD, IKBKG
5cleft lip/palate-ectodermal dysplasia syndrome12.4
6ectodermal dysplasia/skin fragility syndrome12.3
7ectodermal dysplasia 2, clouston type12.3
8ectodermal dysplasia 1, hypohidrotic, x-linked12.3
9ectodermal dysplasia, ectrodactyly, and macular dystrophy12.3
10ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia12.3
11ectodermal dysplasia, hypohidrotic, with immune deficiency12.3
12ectodermal dysplasia 3, witkop type12.2
13ectodermal dysplasia 4, hair/nail type12.2
14ectodermal dysplasia-syndactyly syndrome 112.1
15ectodermal dysplasia/short stature syndrome12.1
16ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency12.1
17ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency12.1
18hypohidrotic ectodermal dysplasia autosomal recessive12.1
19hidrotic ectodermal dysplasia 212.1
20ectodermal dysplasia 7, hair/nail type12.1
21ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 312.1
22corneal intraepithelial dyskeratosis and ectodermal dysplasia12.1
23ectodermal dysplasia 9, hair/nail type12.1
24ectodermal dysplasia, trichoodontoonychial type12.1
25ectodermal dysplasia 8, hair/tooth/nail type12.1
26ectodermal dysplasia 5, hair/nail type12.0
27ectodermal dysplasia 6, hair/nail type12.0
28hypohidrotic ectodermal dysplasia with immunodeficiency12.0
29cerebellar ataxia and ectodermal dysplasia12.0
30arthrogryposis and ectodermal dysplasia12.0
31arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay12.0
32ectodermal dysplasia-syndactyly syndrome 212.0
33ectodermal dysplasia and neurosensory deafness11.9
34ectodermal dysplasia, hidrotic, christianson-fourie type11.9
35ectodermal dysplasia with natal teeth, turnpenny type11.9
36ectodermal dysplasia adrenal cyst11.9
37congenital ectodermal dysplasia with hearing loss11.9
38ectodermal dysplasia mental retardation syndactyly11.9
39hypohidrotic ectodermal dysplasia, autosomal11.9
40ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum11.9
41ectodermal dysplasia alopecia preaxial polydactyly11.9
42tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities11.9
43ectodermal dysplasia arthrogryposis diabetes mellitus11.9
44ectodermal dysplasia bartalos type11.9
45ectodermal dysplasia berlin type11.9
46ectodermal dysplasia blindness11.9
47ectodermal dysplasia intellectual disability cns malformation11.9
48ectodermal dysplasia margarita type11.9
49ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features11.9
50ectrodactyly and ectodermal dysplasia without cleft lip/palate11.9

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



Diseases related to ectodermal dysplasia

Symptoms for Ectodermal Dysplasia

About this section

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

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EverolimusPhase 1, Phase 21863159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
Zortress
everolimus
2
sirolimusPhase 1, Phase 2186353123-88-95284616, 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
3
MiconazolePhase 1, Phase 2357322916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
4
AcetylcholinePhase 275251-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
5
Simvastatin50379902-63-954454
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 31)
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
22Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
23Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)RecruitingNCT01630421
24International Pachyonychia Congenita Research RegistryRecruitingNCT02321423
25Study of Selected X-linked Disorders: Goltz SyndromeRecruitingNCT00691223
26Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal DysplasiaActive, not recruitingNCT02099552
27Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002Active, not recruitingNCT01992289
28Growth Arrest in Focal Dermal HypoplasiaActive, not recruitingNCT02463656
29Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63Not yet recruitingNCT02896387
30Simvastatin Treatment of Pachyonychia CongenitaNot yet recruitingNCT01382511
31Studies 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:

34
Skin, Bone, Testes, T cells, Eye, Brain, Salivary gland

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

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

Animal Models for Ectodermal Dysplasia or affiliated genes

About this section

MGI Mouse Phenotypes related to Ectodermal Dysplasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.0CDH3, EDAR, EDARADD, GJB6, IKBKG, NFKBIA
2MP:00107716.6CDH3, EDAR, EDARADD, GJB6, IKBKG, NECTIN1

Publications for Ectodermal Dysplasia

About this section

Articles related to Ectodermal Dysplasia:

(show top 50)    (show all 881)
idTitleAuthorsYear
1
Conventional Complete Denture in Patients with Ectodermal Dysplasia. (26425372)
2015
2
Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly. (26655010)
2015
3
Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia. (23981984)
2013
4
Ectodermal dysplasia: thoughts and practical concepts concerning disease classification - the role of functional pathways in the molecular genetic diagnosis. (23635470)
2013
5
Hypodontia due to ectodermal dysplasia: reviewer commentary. (23827279)
2013
6
Functional studies for the TRAF6 mutation associated with hypohidrotic ectodermal dysplasia. (22924441)
2013
7
Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene. (22309335)
2012
8
Hypohidrotic ectodermal dysplasia. (23130287)
2012
9
Prevalence of atopic disorders and immunodeficiency in patients with ectodermal dysplasia syndromes. (22626597)
2012
10
Psychoeducational characteristics of children with hypohidrotic ectodermal dysplasia. (22536143)
2012
11
Radiographic study of patients with ectodermal dysplasia and partial. (23649067)
2012
12
Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia. (21771270)
2011
13
Overdenture restoration in a growing patient with hypohidrotic ectodermal dysplasia: a clinical report. (21465010)
2011
14
Quantification of taurodontism: interests in the early diagnosis of hypohidrotic ectodermal dysplasia. (20374512)
2010
15
The contribution of orthodontics to the prosthodontic treatment of ectodermal dysplasia: a long-term clinical report. (21037191)
2010
16
X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings. (20236127)
2010
17
Higher-than-expected prevalence of hypohidrotic ectodermal dysplasia in a rural Mexican setting: report of 20 cases. (20883269)
2010
18
A novel frameshift mutation of the EDA1 gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia. (18702659)
2009
19
A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma. (19716498)
2009
20
Successful umbilical cord blood transplantation for intractable eczematous eruption in hypohidrotic ectodermal dysplasia with immunodeficiency. (19663838)
2009
21
Oral rehabilitation of adult twins with severe lack of bone due to hypohidrotic ectodermal dysplasia--a 12-month follow-up. (19070767)
2009
22
Three-dimensional sonographic findings associated with ectrodactyly ectodermal dysplasia clefting syndrome. (18096742)
2008
23
Selective impression technique for conventional denture rehabilitation in ectodermal dysplasia patient: a case report. (19256324)
2008
24
Dental implant reconstruction in a patient with ectodermal dysplasia using multiple bone grafting techniques. (18486790)
2008
25
A novel 22-bp deletion mutation in a Chinese family with X-linked hypohidrotic ectodermal dysplasia. (18427821)
2008
26
Anhidrotic ectodermal dysplasia with palmoplantar keratoderma: an unusual presentation. (17550568)
2007
27
A novel 4-bp insertion mutation in EDA1 gene in a Pakistani family with X-linked hypohidrotic ectodermal dysplasia. (17478381)
2007
28
Should we consider hypohidrotic ectodermal dysplasia as a possible risk factor for malignant melanoma? (17942030)
2007
29
Midface growth in patients with ectrodactyly-ectodermal dysplasia-clefting syndrome. (17572556)
2007
30
Craniofacial growth and functional change in oligodontia with ectodermal dysplasia: a case report. (17302952)
2007
31
Ectrodactyly, ectodermal dysplasia, macular degeneration syndrome: a further contribution. (16970031)
2006
32
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
33
Osseointegrated implants in the oral rehabilitation of a patient with cleft lip and palate and ectodermal dysplasia: a case report. (15623068)
2004
34
A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. (12788524)
2003
35
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. (11224521)
2001
36
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
37
Bilateral idiopathic retinal telangiectasis, progressive neuroradiological abnormalities and ectodermal dysplasia. (11040916)
2000
38
Hypohidrotic ectodermal dysplasia--a case report. (10863497)
1999
39
Anhidrotic ectodermal dysplasia associated with specific antibody deficiency. (8775234)
1996
40
Ectrodactyly-ectodermal dysplasia--clefting (EEC) syndrome. (8859102)
1996
41
Pili torti and onychodysplasia. Report of a previously undescribed hidrotic ectodermal dysplasia. (1879585)
1991
42
Hypohidrotic ectodermal dysplasia. (2247393)
1990
43
Improved definition of carrier status in X-linked hypohidrotic ectodermal dysplasia by use of restriction fragment length polymorphism-based linkage analysis. (2564048)
1989
44
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
45
Fever and hypotrichosis in a newborn. Anhidrotic ectodermal dysplasia (AED). (3777980)
1986
46
Dysphagia in hypohidrotic ectodermal dysplasia. A case report. (6463801)
1984
47
Dermoodontodysplasia: an eleven-member, four generation pedigree with an apparently hitherto undescribed pure ectodermal dysplasia. (6616948)
1983
48
A dental approach to carrier screening in X linked hypohidrotic ectodermal dysplasia. (7334506)
1981
49
A genetic study of anodontia in X-linked hypohidrotic ectodermal dysplasia. (7446529)
1980
50
Anodontia in hereditary ectodermal dysplasia. (18129730)
1949

Variations for Ectodermal Dysplasia

About this section

Expression for genes affiliated with Ectodermal Dysplasia

About this section
Search GEO for disease gene expression data for Ectodermal Dysplasia.

Pathways for genes affiliated with Ectodermal Dysplasia

About this section

GO Terms for genes affiliated with Ectodermal Dysplasia

About this section

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1salivary gland cavitationGO:006066210.5EDA, EDAR
2positive regulation of NF-kappaB import into nucleusGO:004234610.4EDA, EDAR
3positive regulation of I-kappaB kinase/NF-kappaB signalingGO:004312310.0EDA, EDAR, IKBKG
4pigmentationGO:00434739.8EDA, EDAR
5tumor necrosis factor-mediated signaling pathwayGO:00332099.8EDA, EDAR, EDARADD
6positive regulation of NF-kappaB transcription factor activityGO:00510929.7EDA, IKBKG, NFKBIA
7positive regulation of keratinocyte proliferationGO:00108389.7CDH3, TP63
8hair follicle developmentGO:00019429.7EDAR, TP63
9odontogenesis of dentin-containing toothGO:00424759.6EDA, EDAR, TP63
10adherens junction organizationGO:00343329.6CDH3, NECTIN1
11cell differentiationGO:00301549.0EDA, EDAR, EDARADD, TP63
12single organismal cell-cell adhesionGO:00163378.9CDH3, NECTIN1, PKP1
13apoptotic processGO:00069158.4EDAR, GJB6, IKBKG, NFKBIA, TP63

Sources for Ectodermal Dysplasia

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet