MCID: EPD003
MIFTS: 51

Epidermolysis Bullosa Simplex malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex

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Aliases & Descriptions for Epidermolysis Bullosa Simplex:

Name: Epidermolysis Bullosa Simplex 11 23 47 24 25 26 49 38 13 67
Ebs 24 25
 
Epidermolysis Bullosa Intraepidermic 47

Characteristics:

GeneReviews:

23
Penetrance: penetrance is 100% for known heterozygous (autosomal dominant) and biallelic (autosomal recessive) krt5 and krt14 pathogenic variants. penetrance is also 100% for known biallelic pathogenic variants in exph5 and tgm5. disease severity may be influenced by other factors and may show intrafamilial variation [indelman et al 2005]...


Classifications:



External Ids:

Disease Ontology11 DOID:4644
ICD1029 Q81.0
SNOMED-CT61 205585003, 67144006
MeSH38 D016110
NCIt44 C84692

Summaries for Epidermolysis Bullosa Simplex

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Genetics Home Reference:25 Epidermolysis bullosa simplex is one of a group of genetic conditions called epidermolysis bullosa that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) occur in response to minor injury or friction, such as rubbing or scratching. Epidermolysis bullosa simplex is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. Blistering primarily affects the hands and feet in mild cases, and the blisters usually heal without leaving scars. Severe cases of this condition involve widespread blistering that can lead to infections, dehydration, and other medical problems. Severe cases may be life-threatening in infancy.

MalaCards based summary: Epidermolysis Bullosa Simplex, also known as ebs, is related to epidermolysis bullosa simplex-mp and epidermolysis bullosa simplex, dowling-meara type, and has symptoms including abnormal blistering of the skin, palmoplantar keratoderma and abnormality of skin pigmentation. An important gene associated with Epidermolysis Bullosa Simplex is KRT14 (Keratin 14), and among its related pathways are a6b1 and a6b4 Integrin signaling and Glucocorticoid receptor regulatory network. Affiliated tissues include skin, testes and tongue, and related mouse phenotype integument.

Wikipedia:70 Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin... more...

GeneReviews for NBK1369

Related Diseases for Epidermolysis Bullosa Simplex

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Diseases in the Epidermolysis Bullosa Simplex family:

Epidermolysis Bullosa Simplex, Recessive 1

Diseases related to Epidermolysis Bullosa Simplex via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 127)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa simplex-mp34.4KRT10, KRT14, KRT5
2epidermolysis bullosa simplex, dowling-meara type33.6KRT1, KRT10, KRT14, PLEC
3darier disease30.1ITGB4, KRT14, KRT5
4epidermolysis bullosa simplex, weber-cockayne type12.7
5epidermolysis bullosa simplex with muscular dystrophy12.7
6epidermolysis bullosa simplex, koebner type12.7
7epidermolysis bullosa simplex, ogna type12.6
8epidermolysis bullosa simplex, sutosomal recessive 212.6
9epidermolysis bullosa simplex, recessive 112.6
10epidermolysis bullosa simplex with pyloric atresia12.6
11epidermolysis bullosa simplex superficialis12.4
12epidermolysis bullosa simplex with nail dystrophy12.4
13epidermolysis bullosa simplex with anodontia/hypodontia12.3
14epidermylysis bullosa simplex-mcr12.1
15epidermolysis bullosa simplex, other generalized12.1
16ectodermal dysplasia/skin fragility syndrome11.6
17epidermolysis bullosa, nonspecific, autosomal recessive11.4
18epidermolysis bullosa11.1
19epidermolysis bullosa dystrophica, ad11.1
20epidermolysis bullosa, late-onset localized junctional, with mental retardation11.1
21epidermolysa bullosa simplex with muscular dystrophy11.1
22pachyonychia congenita 310.7KRT14, KRT5
23dowling-degos disease 110.6KRT14, KRT5
24sed congenita10.6KRT14, KRT5
25benign intermediate mesothelioma10.6KRT14, KRT5
26female breast lower-inner quadrant cancer10.6KRT14, KRT5
27breast neuroendocrine neoplasm10.6KRT14, KRT5
28oligoastrocytoma10.6KRT14, KRT5
29bladder clear cell adenocarcinoma10.6KRT14, KRT5
30muscular dystrophy10.6
31water-clear cell adenoma10.6KRT14, KRT5
32connective tissue benign neoplasm10.6KRT14, KRT5
33papillary adenoma10.5KRT14, KRT5
34pleomorphic carcinoma10.5KRT14, KRT5
35pneumonia10.5KRT10, KRT5
36malignant ependymoma10.5COL17A1, KRT14
37malignant epithelial mesothelioma10.4KRT10, KRT5
38bladder verrucous squamous cell carcinoma10.4KRT10, KRT5
39giant ganglionic hyperplasia10.4COL17A1, DST
40submandibular gland cancer10.4COL17A1, DST
41anal squamous cell carcinoma10.4KRT14, KRT17
42muscular dystrophy, limb-girdle, type 2q10.4ITGB4, PLEC
43epidermolysis bullosa, junctional, with pyloric stenosis10.4ITGB4, PLEC
44esophageal atresia/tracheoesophageal fistula10.4ITGB4, PLEC
45craniodiaphyseal dysplasia, autosomal dominant10.4KRT10, KRT17
46capillary lymphangioma10.4KRT10, KRT14
47female reproductive system disease10.4KRT10, KRT14
48ductal carcinoma in situ10.4KRT14, KRT17, KRT5
49cystic nephroma10.3KRT14, KRT17
50impetigo10.3COL17A1, DST

Graphical network of the top 20 diseases related to Epidermolysis Bullosa Simplex:



Diseases related to epidermolysis bullosa simplex

Symptoms for Epidermolysis Bullosa Simplex

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Human phenotypes related to Epidermolysis Bullosa Simplex:

 63 (show all 9)
id Description HPO Frequency HPO Source Accession
1 abnormal blistering of the skin63 hallmark (90%) HP:0008066
2 palmoplantar keratoderma63 typical (50%) HP:0000982
3 abnormality of skin pigmentation63 typical (50%) HP:0001000
4 anonychia63 typical (50%) HP:0001798
5 pyloric stenosis63 typical (50%) HP:0002021
6 skin ulcer63 typical (50%) HP:0200042
7 atypical scarring of skin63 occasional (7.5%) HP:0000987
8 abnormality of the fingernails63 occasional (7.5%) HP:0001231
9 neoplasm63 occasional (7.5%) HP:0002664

Drugs & Therapeutics for Epidermolysis Bullosa Simplex

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Drugs for Epidermolysis Bullosa Simplex (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Erythromycinapproved, vet_approvedPhase 395114-07-812560
Synonyms:
(3R,4S,5S,6R,7R,9R,11R,12R,13S,14R)-6-{[(2S,3R,4S,6R)-4-(dimethylamino)-3-hydroxy-6-methyltetrahydro-2H-pyran-2-yl]oxy}-14-ethyl-7,12,13-trihydroxy-4-{[(2R,4R,5S,6S)-5-hydroxy-4-methoxy-4,6-dimethyltetrahydro-2H-pyran-2-yl]oxy}-3,5,7,9,11,13-hexamethyloxacyclotetradecane-2,10-dione
,10-dione
114-07-8
3''-O-demethylerythromycin
374700-25-1
45673_FLUKA
45674_FLUKA
79235-06-6
82343-12-2
A/T/S
AC-12744
AC1L1FIQ
AC1L1QK7
AC1L1ZUR
AC1O8PVA
AC1Q2UA1
AC1Q6O1S
AI3-50138
AR-1A4414
AR-1H0723
Abboticin
Abomacetin
Acneryne
Acnesol
Ak-Mycin
Ak-mycin
Akne Cordes Losung
Akne-Mycin
Akne-mycin (TN)
Aknederm Ery Gel
Aknemycin
Aknin
AustriaS
BB_NC-1332
BIDD:GT0017
BPBio1_000312
BSPBio_000282
BSPBio_002480
Benzamycin
Benzamycin Pak
Bristamycin
C-Solve-2
C01912
C37H67NO13
CCRIS 9078
CHEBI:42355
CHEMBL532
CID12560
CID3255
CID6713919
CID8233
D00140
DB00199
Del-Mycin
Derimer
Deripil
DivK1c_000294
DivK1c_000397
DivK1c_000702
Dotycin
Dumotrycin
E- mycin, Erycin, Robimysin
E-Base
E-Base (base)
E-Glades
E-Mycin
E-Mycin (base)
E-Solve 2
E0751
E0774_SIAL
E5389_SIGMA
E6376_SIAL
E7904_SIGMA
EINECS 204-040-1
EM
EMU
ERY
ERYC
ERYC (base)
ERYTHROMYCIN STEARATE
ETS
Emgel
Emu-V
Emu-Ve
Emuvin
Emycin
Endoeritrin
Erecin
Erimycin-T
Erisone
Eritomicina
Eritrocina
Eritromicina
Eritromicina [INN-Spanish]
Ermycin
Eros
Ery-B
Ery-Diolan
Ery-Sol
Ery-Tab
Ery-Tab (base)
Ery-maxin
Eryacne
Eryacnen
Eryc
Eryc (TN)
Eryc 125
Eryc Sprinkles
Eryc-125
Eryc-250
Erycen
Erycette
Erycin
Erycinum
Eryderm
Erydermer
Erygel
Erygel (TN)
Eryhexal
Erymax
Erymed
Erypar
Erysafe
Erytab
Erythra-Derm
Erythro
Erythro-Statin
Erythro-Teva
Erythrocin
Erythrocin Stearate
Erythroderm
Erythrogran
Erythroguent
Erythromast 36
Erythromid
Erythromycin
Erythromycin & VRC3375
Erythromycin (JP15/USP/INN)
 
Erythromycin A
Erythromycin A, T-Stat, Pantomicina, HSDB 3074, Erytab, DRG-0279
Erythromycin B
Erythromycin C
Erythromycin Lactate
Erythromycin Ointment
Erythromycin Stearate
Erythromycin [INN:BAN:JAN]
Erythromycin base
Erythromycin estolate
Erythromycin ethylsuccinate
Erythromycin glucoheptonate
Erythromycin intravenous
Erythromycin lactobionate
Erythromycin oxime
Erythromycin sodium lauryl sulfate
Erythromycin, compd. with monododecyl sulfate, sodium salt
Erythromycine
Erythromycine [INN-French]
Erythromycinum
Erythromycinum [INN-Latin]
Erytop
Erytrociclin
Ethril 250
HMS1568O04
HMS1920M04
HMS2091D05
HMS500O16
HSDB 3074
I06-0245
IDI1_000294
IDI1_000397
IDI1_000702
Ilocaps
Ilosone
Ilosone (estolate)
Iloticina
Ilotycin
Ilotycin Gluceptate
Ilotycin T.S
Ilotycin T.S.
Inderm
Inderm Gel
IndermRetcin
KBio1_000294
KBio1_000397
KBio1_000702
KBio2_000555
KBio2_001139
KBio2_003123
KBio2_003707
KBio2_005691
KBio2_006275
KBioGR_001175
KBioSS_000555
KBioSS_001139
KST-1A8261
Kesso-Mycin
LMPK04000006
LS-187077
LS-64648
Latotryd
Lederpax
MLS001066618
Mephamycin
Mercina
MolPort-000-772-161
MolPort-002-507-378
MolPort-003-933-429
N-Methylerythromycin A
NCGC00179619-01
NCI-C55674
NINDS_000294
NINDS_000397
NINDS_000702
NSC 55929
NSC55929
Oftalmolosa Cusi Eritromicina
Oftamolets
PCE Dispertab (base)
Paediathrocin
Pantoderm
Pantodrin
Pantomicina
Pce
Pce (TN)
Pfizer-e
Pharyngocin
Prestwick0_000151
Prestwick1_000151
Prestwick2_000151
Prestwick3_000151
Prestwick_205
Primacine
Propiocine
Proterytrin
R-P Mycin
Retcin
Robimycin
Romycin
SBB057401
SMP1_000119
SMR000544946
SPBio_000778
SPBio_001226
SPBio_002221
SPECTRUM1500280
STK249736
Sans-acne
Sansac
Serp-AFD
Skid Gel E
Spectrum2_000759
Spectrum2_001263
Spectrum4_000538
Spectrum5_001596
Spectrum_000115
Spectrum_000659
Staticin
Staticin (TN)
Stiemicyn
Stiemycin
Sulfuric acid, monododecyl ester, sodium salt, compd. with erythromycin
T-Stat
T-stat (TN)
Taimoxin-F
Theramycin Z
Tiloryth
Tiprocin
Torlamicina
UNII-63937KV33D
Udima Ery Gel
Wemid
Wyamycin S
adecane-2,10-dione (non-preferred name)
bmse000664
erythro
erythromycin
nchembio.285-comp13
érythromycine
2Gastrointestinal AgentsPhase 38109
3Anti-Bacterial AgentsPhase 3, Phase 210884
4Erythromycin stearatePhase 395
5Erythromycin EthylsuccinatePhase 395
6Anti-Infective AgentsPhase 3, Phase 221402
7Erythromycin EstolatePhase 395
8
AcetylcholineapprovedPhase 277651-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
9
EverolimusapprovedPhase 21896159351-69-66442177
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
10
Sirolimusapproved, investigationalPhase 2189653123-88-95284616, 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
11
Miconazoleapproved, investigational, vet_approvedPhase 2362422916-47-84189
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
12onabotulinumtoxinAPhase 2626
13Peripheral Nervous System AgentsPhase 222776
14Neurotransmitter AgentsPhase 217734
15Pharmaceutical SolutionsPhase 27793
16Cholinergic AgentsPhase 23846
17Neuromuscular AgentsPhase 21129
18Botulinum ToxinsPhase 2669
19abobotulinumtoxinAPhase 2626
20Botulinum Toxins, Type APhase 2630
21incobotulinumtoxinAPhase 2635
22AnestheticsPhase 29001
23Antifungal AgentsPhase 23615
24Antibiotics, AntitubercularPhase 26972
25Immunosuppressive AgentsPhase 212770

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Treatment of Dowling Maera Type of Epidermolysis Bullosa Simplex by Oral ErythromycinUnknown statusNCT01340235Phase 3
2ESSENCE Study: Efficacy and Safety of SD-101 Cream in Patients With Epidermolysis BullosaRecruitingNCT02384460Phase 3
3Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia CongenitaUnknown statusNCT00936533Phase 2
4Study of Effectiveness and Safety of SD-101 in Subjects With Epidermolysis BullosaCompletedNCT02014376Phase 2
5Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) StudyRecruitingNCT02960997Phase 2
6Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) StudyRecruitingNCT03016715Phase 2
7Diacerin for the Treatment of Epidermolysis Bullosa SimplexNot yet recruitingNCT02470689Phase 2
8Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal SkinRecruitingNCT02592954Phase 1
9Study of Inflammatory Mechanisms in Epidermolysis Bullosa Simplex- Dowling MearaCompletedNCT01556308
10Open Label Extension Study to Evaluate the Safety of SD-101 Cream in Subjects With Epidermolysis BullosaActive, not recruitingNCT02090283
11Open Label Extension Study to Evaluate the Long-term Safety of Zorblisa (SD-101-6.0) in Patients With Epidermolysis BullosaActive, not recruitingNCT02670330

Search NIH Clinical Center for Epidermolysis Bullosa Simplex


Cochrane evidence based reviews: epidermolysis bullosa simplex

Genetic Tests for Epidermolysis Bullosa Simplex

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Genetic tests related to Epidermolysis Bullosa Simplex:

id Genetic test Affiliating Genes
1 Epidermolysis Bullosa Simplex26 24 KRT14, KRT5

Anatomical Context for Epidermolysis Bullosa Simplex

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MalaCards organs/tissues related to Epidermolysis Bullosa Simplex:

35
Skin, Testes, Tongue, Breast

Animal Models for Epidermolysis Bullosa Simplex or affiliated genes

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MGI Mouse Phenotypes related to Epidermolysis Bullosa Simplex:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.4ITGB4, KRT1, KRT14, KRT17, KRT5, PLEC

Publications for Epidermolysis Bullosa Simplex

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Articles related to Epidermolysis Bullosa Simplex:

(show top 50)    (show all 345)
idTitleAuthorsYear
1
In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe. (27136972)
2016
2
A novel KRT5 mutation associated with generalized severe epidermolysis bullosa simplex in a 2-year-old Chinese boy. (27882080)
2016
3
A fixed denture for a child with epidermolysis bullosa simplex. (26637257)
2015
4
Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation. (26432462)
2015
5
Oral erythromycin therapy in epidermolysis bullosa simplex generalized severe. (25601422)
2015
6
Epidermolysis bullosa simplex with mottled pigmentation: the first Slovenian case. (24964947)
2014
7
Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait. (25059916)
2014
8
Coexistence of KRT14 and KRT5 mutations in Polish patient with Epidermolysis Bullosa Simplex. (24024749)
2013
9
Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy. (24019772)
2013
10
Epidermolysis bullosa simplex with mottled pigmentation due to a rare keratin 5 mutation: cutaneous findings in infancy. (23889190)
2013
11
Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression. (22113475)
2012
12
Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex. (21716320)
2011
13
Localized epidermolysis bullosa simplex (Weber-Cockayne type). (22206097)
2011
14
A novel homozygous keratin 14 mutation in a patient with autosomal recessive epidermolysis bullosa simplex and squamous cell carcinoma of the tongue. (20096008)
2010
15
Plectin gene defects lead to various forms of epidermolysis bullosa simplex. (19945614)
2010
16
Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes. (20128788)
2010
17
Epidermolysis bullosa simplex. (19945613)
2010
18
A transient epidermolysis bullosa simplex-like phenotype associated with bexarotene treatment in a G138E KRT5 heterozygote. (20849457)
2010
19
Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure. (20030639)
2010
20
Case of mistaken identity: bullous congenital ichthyosiform erythroderma mistaken as epidermolysis bullosa simplex. (19930990)
2009
21
Treatment of epidermolysis bullosa simplex, Weber-Cockayne type, with botulinum toxin type A. (19153338)
2009
22
Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility. (19587453)
2009
23
A mutation in exon 1 of keratin 14 resulting in a Chinese family with epidermolysis bullosa simplex Dowling-Meara. (17659012)
2007
24
Plectin defects in epidermolysis bullosa simplex with muscular dystrophy. (16967486)
2007
25
Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with KAPbner-type epidermolysis bullosa simplex. (17040498)
2006
26
Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14. (16601668)
2006
27
'Neural network' algorithm to predict severity in epidermolysis bullosa simplex. (16394384)
2005
28
Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland. (15827748)
2005
29
Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen. (15377356)
2004
30
Eruptive large melanocytic nevus in a patient with hereditary epidermolysis bullosa simplex. (14657636)
2003
31
Recessive epidermolysis bullosa simplex phenotype reproduced in vitro: ablation of keratin 14 is partially compensated by keratin 17. (14578178)
2003
32
Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients. (12603865)
2003
33
A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex. (11990248)
2002
34
The clinical spectrum of epidermolysis bullosa simplex. (10735952)
2000
35
A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case. (10383750)
1999
36
Tetracycline and epidermolysis bullosa simplex: a new indication for one of the oldest and most widely used drugs in dermatology? (10456349)
1999
37
A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex. (10583131)
1999
38
Expression of plectin and HD1 epitopes in patients with epidermolysis bullosa simplex associated with muscular dystrophy. (10552210)
1999
39
Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex: increased severity of disease in a homozygote. (9284105)
1997
40
MA1nchausen's syndrome with congenital generalized epidermolysis bullosa simplex. (9059700)
1997
41
A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. (8941634)
1996
42
The genetic basis of Weber-Cockayne epidermolysis bullosa simplex. (7688477)
1993
43
Epidermolysis bullosa simplex Dowling-Meara: troublesome blistering and pruritus in an adult patient. (8435522)
1993
44
Transient intraepidermal bullous reaction after skin graft for toxic epidermal necrolysis. Ultrastructural and immunohistochemical features similar to those of inherited epidermolysis bullosa simplex. (1892406)
1991
45
Cytofluorometric study of lectin binding to the keratinocytes of epidermolysis bullosa simplex. (2127148)
1990
46
Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex. (2471468)
1989
47
Gelatinase expression in generalized epidermolysis bullosa simplex fibroblasts. (3016106)
1986
48
Genetic linkage analysis of epidermolysis bullosa simplex, KAPbner type. (6507503)
1984
49
Generalized dominant epidermolysis bullosa simplex: decreased activity of a gelatinolytic protease in cultured fibroblasts as a phenotypic marker. (6315831)
1983
50
GPT--epidermolysis bullosa simplex (EBS Ogna) linkage in man. (4760576)
1973

Variations for Epidermolysis Bullosa Simplex

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Expression for genes affiliated with Epidermolysis Bullosa Simplex

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Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex.

Pathways for genes affiliated with Epidermolysis Bullosa Simplex

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GO Terms for genes affiliated with Epidermolysis Bullosa Simplex

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Cellular components related to Epidermolysis Bullosa Simplex according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1keratin filamentGO:004509510.1KRT1, KRT14, KRT5
2hemidesmosomeGO:00300569.6COL17A1, DST, ITGB4, PLEC
3intermediate filamentGO:00058828.4BFSP2, DST, FLG, KRT10, KRT14, KRT17
4extracellular exosomeGO:00700627.7DST, ITGB4, KRT1, KRT10, KRT14, KRT17

Biological processes related to Epidermolysis Bullosa Simplex according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filament cytoskeleton organizationGO:00451049.9BFSP2, DST
2cell motilityGO:00488709.9DST, ITGB4
3establishment of skin barrierGO:00614369.8FLG, KRT1
4cytoskeleton organizationGO:00070109.4BFSP2, DST, KRT5
5hemidesmosome assemblyGO:00315819.1COL17A1, ITGB4, KRT14, KRT5, PLEC
6epidermis developmentGO:00085448.6COL17A1, KRT14, KRT17, KRT5, TGM5

Molecular functions related to Epidermolysis Bullosa Simplex according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.0BFSP2, KRT14, KRT17, KRT5

Sources for Epidermolysis Bullosa Simplex

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet