DEB
MCID: EPD009
MIFTS: 54

Epidermolysis Bullosa Dystrophica (DEB) malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Epidermolysis Bullosa Dystrophica

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Aliases & Descriptions for Epidermolysis Bullosa Dystrophica:

Name: Epidermolysis Bullosa Dystrophica 35 11 23 48 24 25 39 13 68
Dystrophic Epidermolysis Bullosa 11 23 48 24 25
Epidermolysis Bullosa, Dystrophic 25 27
Deb 23 48
 
Epidermolysis Bullosa, Dermolytic 48
Dermolytic Epidermolysis Bullosa 48
Epidermolysis Bullosa Dystrophic 50

Characteristics:

GeneReviews:

23
Penetrance: until recently, pathogenic variants in col7a1 were considered to be 100% penetrant when family members were evaluated for mild features of the disease. however, in several families, an individual with ddeb and a known col7a1 pathogenic variant had relatives with the same variant that had no signs of the disease. penetrance therefore appears to be less than 100%, at least in ddeb [almaani et al 2011; pfendner, unpublished observation]...


Classifications:



External Ids:

Disease Ontology11 DOID:4959
ICD1030 Q81.2
MeSH39 D016108
NCIt45 C84691

Summaries for Epidermolysis Bullosa Dystrophica

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NIH Rare Diseases:48 Dystrophic epidermolysis bullosa (deb) is one of the major forms of epidermolysis bullosa. the signs and symptoms can vary widely among affected people. in mild cases, blistering may primarily affect the hands, feet, knees, and elbows. severe cases often involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. deb is caused by changes (mutations) in the col7a1 gene and may be inherited in an autosomal dominant or autosomal recessive manner depending on the subtype. new blisters should be lanced, drained, and protected. some patients need nutritional support, supplements, occupational therapy and/or surgery depending on the associated features of the disease. last updated: 9/29/2015

MalaCards based summary: Epidermolysis Bullosa Dystrophica, also known as dystrophic epidermolysis bullosa, is related to ebd, bart type and epidermolysis bullosa dystrophica, ar, and has symptoms including urinary retention, ureteral stenosis and renal insufficiency. An important gene associated with Epidermolysis Bullosa Dystrophica is COL7A1 (Collagen Type VII Alpha 1 Chain), and among its related pathways are Photodynamic therapy-induced NF-kB survival signaling and Cell adhesion_Cell-matrix glycoconjugates. Affiliated tissues include skin, tongue and heart.

Genetics Home Reference:25 Epidermolysis bullosa is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases of this condition involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems.

Wikipedia:71 Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and... more...

GeneReviews for NBK1304

Related Diseases for Epidermolysis Bullosa Dystrophica

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Diseases in the Epidermolysis Bullosa Dystrophica family:

Epidermolysis Bullosa Dystrophica, Ad Epidermolysis Bullosa Dystrophica, Ar

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

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1ebd, bart type33.0COL7A1, MMP1
2epidermolysis bullosa dystrophica, ar12.7
3epidermolysis bullosa dystrophica, ad12.6
4epidermolysis bullosa, pretibial12.0
5transient bullous of the newborn11.6
6epidermolysis bullosa pruriginosa11.5
7recessive dystrophic epidermolysis bullosa11.5
8dominant dystrophic epidermolysis bullosa11.1
9recessive dystrophic epidermolysis bullosa, generalized, severe, modifier of11.1
10epidermolysis bullosa11.0
11esophagitis10.5
12squamous cell carcinoma10.5
13symmastia10.2MMP1, MMP3
14kleptomania10.2MMP1, MMP3
15cystic lymphangioma10.2MMP1, MMP3
16angiomyoma10.2MMP1, MMP3
17pasteurellosis10.2MMP1, MMP3
18idiopathic corneal edema10.2MMP1, MMP3
19zika fever10.2MMP1, MMP3
20recessive dystrophic epidermolysis bullosa-generalized other10.2
21dystrophic epidermolysis bullosa, nails only10.2
22acral dystrophic epidermolysis bullosa10.2
23centripetalis recessive dystrophic epidermolysis bullosa10.2
24cerebellar ataxia10.1
25ataxia10.1
26schwannomatosis10.1FBN1, MMP3
27kashin-beck disease10.1MMP1, MMP3
28cortical blindness mental retardation polydactyly10.1MMP1, MMP3
29algoneurodystrophy10.1FBN1, MMP1
30glaucoma 1, open angle, n10.1FBN1, MMP1
31carotenemia10.1MMP1, MMP3
32cataract 18, autosomal recessive10.1COL7A1, FLG, MMP1
33catecholaminergic polymorphic ventricular tachycardia10.1COL7A1, FLG, MMP1
34dyskinesia of esophagus10.0COL7A1, DST
35germ cell and embryonal cancer10.0MMP1, MMP3
36spinocerebellar ataxia 2310.0COL7A1, DST
37epidermolytic acanthoma10.0COL7A1, DST
38mixed ductal-endocrine carcinoma10.0FBN1, MMP1, MMP3
39bilirubin metabolic disorder10.0COL7A1, DST
40adult-onset distal myopathy due to vcp mutation10.0FBN1, FLG, MMP1
41pelger-huet anomaly10.0
42osteoporosis10.0
43dilated cardiomyopathy10.0
44sclerocornea10.0
45cornea plana10.0
46sarcoma10.0
47syndactyly10.0
48pharyngitis10.0
49hyperglobulinemic purpura10.0
50purpura10.0

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



Diseases related to epidermolysis bullosa dystrophica

Symptoms & Phenotypes for Epidermolysis Bullosa Dystrophica

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Human phenotypes related to Epidermolysis Bullosa Dystrophica:

 64 (show all 43)
id Description HPO Frequency HPO Source Accession
1 urinary retention64 HP:0000016
2 ureteral stenosis64 HP:0000071
3 renal insufficiency64 HP:0000083
4 nephrotic syndrome64 HP:0000100
5 furrowed tongue64 HP:0000221
6 hearing impairment64 HP:0000365
7 chronic otitis media64 HP:0000389
8 blepharitis64 HP:0000498
9 nasolacrimal duct obstruction64 HP:0000579
10 ectropion64 HP:0000656
11 carious teeth64 HP:0000670
12 abnormality of dental enamel64 HP:0000682
13 eczema64 HP:0000964
14 hypopigmented skin patches64 HP:0001053
15 milia64 HP:0001056
16 stroke64 HP:0001297
17 failure to thrive64 HP:0001508
18 recurrent skin infections64 HP:0001581
19 laryngeal stenosis64 HP:0001602
20 congestive heart failure64 HP:0001635
21 dilated cardiomyopathy64 HP:0001644
22 phimosis64 HP:0001741
23 toe syndactyly64 HP:0001770
24 dystrophic toenail64 HP:0001810
25 anemia64 HP:0001903
26 dysphagia64 HP:0002015
27 esophageal stricture64 HP:0002043
28 squamous cell carcinoma64 HP:0002860
29 abnormality of the anus64 HP:0004378
30 flexion contracture of toe64 HP:0005830
31 finger syndactyly64 HP:0006101
32 interstitial pulmonary abnormality64 HP:0006530
33 aplasia/hypoplasia of the skin64 HP:0008065
34 abnormal blistering of the skin64 HP:0008066
35 dystrophic fingernails64 HP:0008391
36 acute constipation64 HP:0012451
37 immunologic hypersensitivity64 HP:0100326
38 camptodactyly of finger64 HP:0100490
39 scarring64 HP:0100699
40 gangrene64 HP:0100758
41 glomerulopathy64 HP:0100820
42 cheilitis64 HP:0100825
43 corneal erosion64 HP:0200020

Drugs & Therapeutics for Epidermolysis Bullosa Dystrophica

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

(show all 37)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LenograstimapprovedPhase 21220135968-09-1
Synonyms:
G-CSF (CHO cell derived)
Glycosylated recombinant G-CSF
Glycosylated recombinant granulocyte colony stimulating factor
 
Granulocyte colony stimulating factor 3 (CHO cell derived)
Granulocyte colony-stimulating factor lenograstim
Lenograstim (genetical recombination)
Lenograstim rDNA
2Protective AgentsPhase 27443
3Neuroprotective AgentsPhase 21716
4
Epigallocatechin gallatePhase 260989-51-565064
Synonyms:
(-)-Epigallocatechin gallat
(-)-Epigallocatechin gallate
(-)-Epigallocatechin-3-O-gallate
(-)-Epigallocatechol gallate
(-)-Epigallocatehin gallate
Catechin deriv.
 
EGCG
Epigallocatcchin Gallate
Epigallocate
Epigallocatechin 3-gallate
Epigallocatechin Gallate
Epigallocic acid
Galloyl-L-epigallocatechol
Tea catechin
5Adjuvants, ImmunologicPhase 22554
6AntioxidantsPhase 23050
7Anesthetics, GeneralPhase 1, Phase 22934
8Anti-Inflammatory AgentsPhase 1, Phase 210729
9AnestheticsPhase 1, Phase 29596
10Antibiotics, AntitubercularPhase 1, Phase 27180
11Anti-Bacterial AgentsPhase 1, Phase 211226
12GentamicinsPhase 1, Phase 2140
13Anti-Infective AgentsPhase 1, Phase 222062
14MitogensPhase 1, Phase 21617
15
Epigallocatechinexperimental, NutraceuticalPhase 261970-74-172277
Synonyms:
(-)-3,3',4',5,5',7-Flavanhexol
(-)-Epigallocatechol
(-)-cis-3,3',4',5,5',7-Hexahydroxyflavan
(-)-cis-3,3',4',5,5',7-Hexahydroxyflavane
(-)-epi-gallocatechin
(-)-epigallocatechin
(-)-epigallocatechol
(−)-epigallocatechin
2,3-cis-Epigallocatechin
 
3,3',4',5,5',7-flavanhexol
Antiscurvy factor C2
EGC
Epi-gallocatechin
Epigallocatechin
Epigallocatechol
Galloepicatechin
L-Epigallocatechin
L-Epigallocatechol
L-epigallocatechin
16
IsotretinoinapprovedPhase 11244759-48-25538, 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
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
D00348
D015474
EINECS 225-296-0
EU-0101081
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
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
cis-RA
cis-Retinoate
cis-Retinoic acid
isotretinoino
17Dermatologic AgentsPhase 15806
18
Tacrolimusapproved, investigationalEarly Phase 11102104987-11-3445643, 439492
Synonyms:
(-)-FK 506
(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-5,19-dihydroxy-3-{(1E)-1-[(1R,3R,4R)-4-hydroxy-3-methoxycyclohexyl]prop-1-en-2-yl}-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(prop-2-en-1-yl)-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-3H-15,19-epoxypyrido[2,1-c][1,4]oxazacyclotricosine-1,7,20,21(4H,23H)-tetrone
104987-11-3
109581-93-3 (Hydrate)
15,19-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclotricosine-1,7,20,21(23H)-tetrone,
3S-[3R*[E(1S*,3S*,4S*)],4S*,5R*,8S*,9E,12R*,14R*,15S*,16R*,18S*,19S*,26aR*]]-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-5, 19-dihydroxy-3-[2-(4-hydroxy-3-methoxycyclohexyl)-1-methylethenyl]-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(2-propenyl)-15,19-epoxy-3H-pyrido[2,1-c] [1,4] oxaazacyclotricosine-1,7,20,21(4H,23H)-tetrone
8-DEETHYL-8-[BUT-3-ENYL]-ASCOMYCIN
AC-1182
AC1L1K7H
AC1L97GB
AC1L9IBU
AKOS005145901
Advagraf
Ambap104987-11-3
Ambap5429
Anhydrous tacrolimus
BCBcMAP01_000194
BRD-K35452788-001-02-1
BSPBio-001279
BSPBio_001279
Bio-0921
Bio2_000470
Bio2_000950
C01375
C44H69NO10
CCRIS 7124
CHEBI:100924
CHEBI:61049
CHEMBL1200738
CID11158639
CID11556866
CID439492
CID445643
CID5372
CID5472317
CID6426916
CID6436007
CID6473866
CID6536850
CID6610362
CID6912836
CID9832283
CID9853905
CID9918805
CID9940643
CID9963169
CPD-10016
CPD000466356
D08556
DB00864
DivK1c_001040
FK 506
FK-506
FK5
FK506
FR 900506
FR-900506
 
FR900506
FT-0082660
Fk-506
Fujimycin
Graceptor
HMS1362O21
HMS1792O21
HMS1990O21
HMS2051C18
HMS2093M19
HMS503O21
IDI1_001040
IDI1_002225
K506
KBio1_001040
KBio2_000619
KBio2_003187
KBio2_005755
KBio3_001097
KBio3_001098
KBioGR_000619
KBioSS_000619
L 679934
L-679934
LCP-Tacro
LMPK04000003
LS-64247
MLS000759471
MLS001424054
Modigraf
MolPort-003-666-518
NCGC00163470-01
NCGC00163470-02
NCGC00163470-03
NCGC00163470-04
NCGC00179232-01
NChemBio.2007.16-comp1
NINDS_001040
NSC717865
Prograf
Prograf (TN)
Protopic
Protopy
S5003_Selleck
SAM001246677
SMR000466356
Tacarolimus
Tacrolimus (INN)
Tacrolimus (Prograf?)
Tacrolimus (anhydrous)
Tacrolimus anhydrous
Tacrolimus hydrate
Tacrolimus, anhydrous
Tsukubaenolide
UNII-Y5L2157C4J
nchembio.2007.23-comp2
tacrolimus
tacrolimus hydrate
19
LorazepamapprovedEarly Phase 1124846-49-13958
Synonyms:
(+-)-7-Chloro-5-(o-chlorophenyl)-1,3-dihydro-3-hydroxy-2H-1,4-benzodiazepin-2-one
(+/-)-Lorazepam
(±)-Lorazepam
5-25-02-00248 (Beilstein Handbook Reference)
7-Chloro-5-(2-chlorophenyl)-1,3-dihydro-3-hydroxy-2H-1,4-benzodiazepin-2-one
7-Chloro-5-(2-chlorophenyl)-3-hydroxy-1,3-dihydro-2H-1,4-benzodiazepin-2-one
7-Chloro-5-(2-chlorophenyl)-3-hydroxy-1H-1,4-benzodiazepin-2(3H)-one
7-Chloro-5-(o-chlorophenyl)-1,3-dihydro-3-hydroxy-2H-1,4-benzodiazepin-2-one
7-chloro-5-(2-chlorophenyl)-3-hydroxy-1,3-dihydro-1,4-benzodiazepin-2-one
846-49-1
AC1L1H3H
AHP Brand of Lorazepam
Almazine
Alzapam
Anxiedin
Anxira
Anzepam
Aplacasse
Aplacassee
Apo Lorazepam
Apo-Lorazepam
ApoLorazepam
Apotex Brand of Lorazepam
Aripax
Ativan
Ativan (TN)
Azurogen
BRN 0759084
Baxter Brand of Lorazepam
Bonatranquan
Bonton
CHEBI:116959
CHEMBL580
CID3958
CPD000058410
D00365
D008140
DB00186
DEA No. 2885
Delormetazepam
Demethyllormetazepam
Desitin Brand of Lorazepam
DivK1c_000965
Dolorgiet Brand of Lorazepam
Donix
Duralozam
Durazolam
EINECS 212-687-6
Efasedan
Emotion
Emotival
Equitam
HMS2052H07
HMS503A11
IDI1_000965
Idalprem
KBio1_000965
Kalmalin
L-Lorazepam Acetate
L1764_SIGMA
LS-34141
Larpose
Laubeel
Llorens Brand of Lorazepam
Lomesta
Lopam
Lorabenz
Lorafen
Loram
Lorans
Lorapam
Lorat
Lorax
Loraz
Lorazene
Lorazep
Lorazepam (JP15/USP/INN)
Lorazepam AHP Brand
Lorazepam Apotex Brand
Lorazepam Baxter Brand
Lorazepam Desitin Brand
Lorazepam Dolorgiet Brand
Lorazepam Fabra
Lorazepam Genericon
Lorazepam Intensol
Lorazepam Lannacher
Lorazepam Llorens Brand
Lorazepam Medical
Lorazepam Medical Brand
Lorazepam Medix Brand
Lorazepam Novartis Brand
Lorazepam Novopharm Brand
Lorazepam Nu-Pharm Brand
Lorazepam Riemser Brand
Lorazepam Wyeth Brand
Lorazepam [USAN:INN:BAN:JAN]
Lorazepam ct-Arzneimittel Brand
 
Lorazepam neuraxpharm
Lorazepam neuraxpharm Brand
Lorazepam preservative free
Lorazepam ratiopharm
Lorazepam ratiopharm Brand
Lorazepam-Efeka
Lorazepam-neuraxpharm
Lorazepam-ratiopharm
Lorazepamum
Lorazepamum [INN-Latin]
Lorazepan Chobet
Lorazepan Richet
Lorazin
Lorazon
Lorenin
Loridem
Lorivan
Lormetazepam
Lorsedal
Lorsilan
Lorzem
Lozepam
Max Pax
Medical Brand of Lorazepam
Medical, Lorazepam
Medix Brand of Lorazepam
Merck dura Brand of Lorazepam
Merlit
Methyllorazepam
MolPort-002-051-769
N-Methyllorazepam
NCGC00159439-02
NINDS_000965
NSC 289758
NSC289758
Nervistop L
Nervistopl
Norlormetazepam
Novartis Brand of Lorazepam
Novhepar
Novo Lorazem
Novo-Lorazem
Novolorazem
Novopharm Brand of Lorazepam
Nu Loraz
Nu Pharm Brand of Lorazepam
Nu-Loraz
Nu-Pharm Brand of Lorazepam
NuLoraz
O-Chlorooxazepam
O-Chloroxazepam
Orfidal
Orfidal Wyeth
Pro Dorm
Pro dorm
Psicopax
Punktyl
Quait
Renaquil
Riemser Brand of Lorazepam
Rocosgen
SAM001246833
Securit
Sedatival
Sedazin
Sedicepan
Sedizepan
Serra Pamies Brand of Lorazepam
Sidenar
Silence
Sinestron
Somagerol
Stapam
Tavor
Temesta
Tolid
Tranqipam
Trapax
UNII-O26FZP769L
Upan
Vigiten
WLN: T67 GMV JN IHJ CG IQ KR BG
WY4036
Wy 4036
Wy-4036
Wyeth Brand of Lorazepam
Wyeth, Orfidal
Wypax
ct Arzneimittel Brand of Lorazepam
ct-Arzneimittel Brand of Lorazepam
lorazep von ct
lorazepam
lorazepam (Ativan)
nchembio747-comp26
neuraxpharm Brand of Lorazepam
o-Chlorooxazepam
o-Chloroxazepam
ratiopharm Brand of Lorazepam
20
Heparinapproved, investigational8489005-49-6772, 46507594
Synonyms:
101921-26-0
102-94-3
102785-31-9
104521-37-1
11078-24-3
11129-39-8
12656-11-0
2-o-sulfohexopyranuronosyl-(1->4)-2-deoxy-3-o-sulfo-2-(sulfoamino)hexopyranosyl-(1->4)-2-o-sulfohexopyranuronosyl-(1->4)-2-acetamido-2-deoxy-6-o-sulfohexopyranose
37324-73-5
6-[6-[6-[5-acetamido-4,6-dihydroxy-2-(sulfooxymethyl)oxan-3-yl]oxy-2-carboxy-4-hydroxy-5-sulfooxyoxan-3-yl]oxy-2-(hydroxymethyl)-5-(sulfoamino)-4-sulfooxyoxan-3-yl]oxy-3,4-dihydroxy-5-sulfooxyoxane-2-carboxylic acid
9041-08-1
9045-22-1
9075-96-1
913079-23-9
91449-79-5
AC1L19ZN
AC1L1ROY
ALFA 87-120
ALFA 87-163
ALFA 87-198
ALFA 87-81
ALFA 88-247
AR-1E4539
Allocinnamic acid
Ardeparin
Ardeparin sodium
Arteven
Bemiparin
Bemiparin sodium
CID772
CID8784
CY 216
Calciparine
Certoparin
Clexane
Clivarin
Clivarine
Cy 222
D006495
D017984
DB00407
DB01225
Dalteparin
Dalteparin sodium
Depo-Heparin
EINECS 232-681-7
EMT 966
EMT 967
EMT-966
EMT-967
EMT966
EMT967
Enoxaparin
Enoxaparin sodium
Enoxaparine
Eparina
Eparina [DCIT]
FR 860
Fluxum
Fragmin A
Fragmin B
Fragmin IV
Fraxiparin
H 2149
HSDB 3094
Hed-heparin
Hep Flush Kit in plastic container
Hep-Lock
Hep-Lock U/P
Hep-lock
Heparin
Heparin CY 216
Heparin Lock Flush
Heparin Lock Flush in plastic container
Heparin Lock Flush preservative free
Heparin Lock Flush preservative free in plastic container
Heparin Sodium
Heparin natrium
Heparin sodium
Heparin sodium 1,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 1,000 units in dextrose 5% in plastic container
Heparin sodium 1,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 10,000 units in dextrose 5%
Heparin sodium 10,000 units in dextrose 5% in plastic container
Heparin sodium 10,000 units in sodium chloride 0.45%
Heparin sodium 10,000 units in sodium chloride 0.9%
Heparin sodium 12,500 units in dextrose 5%
Heparin sodium 12,500 units in dextrose 5% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.45% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.9%
Heparin sodium 2,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 2,000 units in dextrose 5% in plastic container
Heparin sodium 2,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 20,000 units and dextrose 5% in plastic container
Heparin sodium 20,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units and dextrose 5% in plastic container
 
Heparin sodium 25,000 units in dextrose 5%
Heparin sodium 25,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.45% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.9%
Heparin sodium 25,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units in dextrose 5% in plastic container
Heparin sodium 5,000 units in sodium chloride 0.45%
Heparin sodium 5,000 units in sodium chloride 0.9%
Heparin sodium 5,000 units in sodium chloride 0.9% in plastic container
Heparin sodium in plastic container
Heparin sodium preservative Free
Heparin sulfate
Heparin sulphate
Heparin, Low Molecular Weight
Heparin, Low-Molecular-Weight
Heparin, sodium salt
Heparina
Heparina [INN-Spanish]
Heparinate
Heparine
Heparine [INN-French]
Heparinic acid
Heparinsodiumsalt
Heparinum
Heparinum [INN-Latin]
Heparinum natricum
Hepathrom
Hepflush-10
Inno-Hep
Innohep
Isocinnamic acid
KB 101
Kabi 2165
LHN 1
LMWH
Lioton 1000
Lipo-hepin
Liquaemin
Liquaemin Lock Flush
Liquaemin Sodium
Liquaemin sodium preservative free
Liquemin
Logiparin
Lovenox
Lovenox HP
Low Molecular Weight Heparin
Low molecular weight heparin
Low molecular weight heparin sodium
Low-Molecular-Weight Heparin
Minolteparin sodium
MolPort-003-760-257
Multiparin
NSC174025
Nadroparin
Nadroparine
Novoheparin
OP 386
OP 622
Octaparin
PK 10,169
PK-10,169
PK-10169
PK10,169
PK10169
Pabyrin
Panheprin
Parnaparin
Parnaparin sodium
Parvoparin
Pularin
Reviparin
Reviparin sodium
Ro 11
Sandoparin
Sodium acid heparin
Sodium heparin
Sodium heparinate
Subeparin
Sublingula
Thromboliquine
Tinzaparin
Tinzaparin sodium
Triofiban
UNII-12M44VTJ7B
UNII-3S182ET3UA
UNII-E47C0NF7LV
UNII-T2410KM04A
UNII-ZZ45AB24CA
Unfractionated heparin
Vetren
Vitrum AB
WY 90493RD
alpha-Heparin
cis-.beta.-Carboxystyrene
cis-Cinnamic acid
enoxaparin
heparin
21
Edetic Acidapproved, vet_approved9960-00-4, 62-33-96049
Synonyms:
(ethylenedinitrilo)tetraacetic acid, ion(4−)
2,2',2'',2'''-(ethane-1,2-diyldinitrilo)tetraacetate
Acide ethylenediaminetetracetique
Acido edetico
Acidum edeticum
CaEDTA
Calcium Disodium Edetate (JAN)
Calcium Disodium Versenate
Calcium disodium versenate (TN)
 
EDT
EDTA
EDTA, ion(4-)
Edetate Calcium
Edetate calcium disodium (USP)
Ethylenediaminetetraacetate
Ethylenediaminetetraacetic acid
N,N'-1,2-Ethane diylbis-(N-(carboxymethyl)glycine)
acide edetique
{[-(bis-carboxymethyl-amino)-ethyl]-carboxymethyl-amino}-acetic acid
22
FludarabineapprovedEarly Phase 1115421679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ARAA
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-fluoro ARA-A
21679-14-1
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
Fludara, Fludarabine
 
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
23
alemtuzumabapproved, investigationalEarly Phase 1310216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
24
Busulfanapproved, investigationalEarly Phase 154555-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
25
Petrolatumapproved938009-03-8
Synonyms:
Multi-hydrocarbon
Paraffinum album
Paraffinum flavum
Petrolatum base
Petrolatum, white
 
Petrolatum,amber
Petrolatum,white
Petroleum jelly
Soft paraffin
White petrolatum
White, soft paraffin
Yellow soft paraffin
26
Cyclophosphamideapproved, investigational293550-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
27Autoantibodies130
28Antibodies6394
29Pentetic Acid99
30calcium heparin848
31Immunoglobulins6394
32Antirheumatic Agents10956
33Immunosuppressive Agents13086
34Antimetabolites12054
35Alkylating Agents4827
36Antimetabolites, Antineoplastic7361
37Antineoplastic Agents, Alkylating4603

Interventional clinical trials:

(show all 30)
idNameStatusNCT IDPhase
1A Comparative Study of the Healing of Chronic Ulcers of Recessive Epidermolysis Bullosa : Dressing vs Amniotic MembraneRecruitingNCT02286427Phase 3
2ESSENCE Study: Efficacy and Safety of SD-101 Cream in Patients With Epidermolysis BullosaActive, not recruitingNCT02384460Phase 3
3Safety and Efficacy of Apligraf in Nonhealing Wounds of Subjects With Junctional or Dystrophic Epidermolysis Bullosa (EB)TerminatedNCT00587223Phase 3
4Efficacy of Granulocyte Colony Stimulating Factor (GCSF) In Patients With Dystrophic Epidermolysis BullosaCompletedNCT01538862Phase 2
5Treatment of Epidermolysis Bullosa Dystrophica by Polyphenon E (Epigallocatechin 3 Gallate)CompletedNCT00951964Phase 2
6Study of Effectiveness and Safety of SD-101 in Subjects With Epidermolysis BullosaCompletedNCT02014376Phase 2
7Study to Evaluate the Safety of ALLO-ASC-DFU in the Subjects With Dystrophic Epidermolysis BullosaRecruitingNCT02579369Phase 1, Phase 2
8A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa (RDEB)RecruitingNCT02810951Phase 1, Phase 2
9Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa Patients With Nonsense MutationsRecruitingNCT03012191Phase 1, Phase 2
10Clinical Trial to Assess Safety and Efficacy of Autologous Cultured Epidermal Grafts Containing Epidermal Stem Cells Genetically Modified in Patients With RDEB.RecruitingNCT02984085Phase 1, Phase 2
11Gene Transfer for Recessive Dystrophic Epidermolysis BullosaRecruitingNCT01263379Phase 1, Phase 2
12Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis BullosaActive, not recruitingNCT02323789Phase 1, Phase 2
13A Pilot Study of HP802-247 in Dystrophic Epidermolysis BullosaWithdrawnNCT01528306Phase 2
14Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis BullosaCompletedNCT00014729Phase 1
15Autologous Transplantation of Cultured Fibroblast on Amniotic Membrane in Patients With Epidermolysis BullosaCompletedNCT01908088Phase 1
16Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis BullosaRecruitingNCT02493816Phase 1
17Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB)Unknown statusNCT01874769
18Allogeneic Stem Cell Transplantation (ALLOSCT) in Recessive Dystrophic Epidermolysis Bullosa (RDEB)Unknown statusNCT00881556Early Phase 1
19Characteristics of Adult Patients With Recessive Dystrophic Epidermolysis BullosaCompletedNCT00904163
20Treatment of Chronic and Non-Chronic Wounds in Patients With Recessive Dystrophic Epidermolysis Bullosa Using Helicoll Collagen Dressings Versus Standard of CareCompletedNCT01716169
21Short Term Observational Study in DEB PatientsCompletedNCT02178969
22Characteristics of Patients With Recessive Dystrophic Epidermolysis BullosaRecruitingNCT01019148
23Survey to Identify Burdens and Unmet Needs of Patients With Epidermolysis BullosaRecruitingNCT03158662
24Open Label Extension Study to Evaluate the Safety of SD-101 Cream in Subjects With Epidermolysis BullosaActive, not recruitingNCT02090283
25Open Label Extension Study to Evaluate the Long-term Safety of Zorblisa (SD-101-6.0) in Patients With Epidermolysis BullosaActive, not recruitingNCT02670330
26Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation PatientsEnrolling by invitationNCT02698735
27Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene TransferTerminatedNCT00533572
28Allogeneic Hematopoietic Stem Cell Transplant For Epidermolysis BullosaTerminatedNCT00478244
29Prospective, Longitudinal Natural History Study in Dystrophic Epidermolysis BullosaWithdrawnNCT01768026
30Pilot Study Evaluating the Efficiency and the Tolerance of the PDT in the Treatment of Epidermal Dysplasia for Patients Affected by Hereditary DEBWithdrawnNCT02004600

Search NIH Clinical Center for Epidermolysis Bullosa Dystrophica

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Epidermolysis Bullosa Dystrophica cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Epidermolysis Bullosa Dystrophica:
VAVELTA
Embryonic/Adult Cultured Cells Related to Epidermolysis Bullosa Dystrophica:
Human Dermal Fibroblasts, PMID: 20722660


Cochrane evidence based reviews: epidermolysis bullosa dystrophica

Genetic Tests for Epidermolysis Bullosa Dystrophica

About this section

Genetic tests related to Epidermolysis Bullosa Dystrophica:

id Genetic test Affiliating Genes
1 Dystrophic Epidermolysis Bullosa27 24 COL7A1

Anatomical Context for Epidermolysis Bullosa Dystrophica

About this section

MalaCards organs/tissues related to Epidermolysis Bullosa Dystrophica:

36
Skin, Tongue, Heart, Trachea, Colon

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

Cells/anatomical compartments in embryo or adult related to Epidermolysis Bullosa Dystrophica:
id TissueAnatomical CompartmentCell Relevance
1 DermisCranial DermisDermal Fibroblasts  
2 DermisVentral DermisDermal Fibroblasts  
3 DermisDorsal DermisDermal Fibroblasts  

Publications for Epidermolysis Bullosa Dystrophica

About this section

Articles related to Epidermolysis Bullosa Dystrophica:

(show top 50)    (show all 131)
idTitleAuthorsYear
1
Feasibility, efficacy, and safety of ultrasound-guided axillary plexus blockade in pediatric patients with epidermolysis bullosa dystrophica. (26857539)
2016
2
Anaesthetic management in a paediatric patient with a difficult airway due to epidermolysis bullosa dystrophica. (25497148)
2015
3
A two-step multidisciplinary approach to treat recurrent esophageal strictures in children with epidermolysis bullosa dystrophica. (25590175)
2015
4
Oral manifestations and challenges in dental treatment of epidermolysis bullosa dystrophica. (24011299)
2013
5
Vascular access for chronic hemodialysis in a patient with epidermolysis bullosa dystrophica Hallopeau-Siemens. (22520719)
2013
6
Oral manifestations of epidermolysis bullosa dystrophica: a rare genetic disease. (23349175)
2013
7
Chronic leg ulcers as a rare cause for the first diagnosis of epidermolysis bullosa dystrophica. (22974048)
2012
8
Severe osteoporosis treated with teriparatide in a patient affected by recessive epidermolysis bullosa dystrophica. (20458569)
2011
9
Airway management in adult patients with epidermolysis bullosa dystrophica: a case series. (21831082)
2011
10
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (20108434)
2010
11
Ocular surface reconstruction with cultivated limbal epithelium in a patient with unilateral stem cell deficiency caused by Epidermolysis bullosa dystrophica hallopeau-Siemens. (20164760)
2010
12
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (20108428)
2010
13
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (20108398)
2010
14
Anesthesia for balloon dilatation of esophageal strictures in children with epidermolysis bullosa dystrophica: from intubation to sedation. (20543680)
2010
15
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (19694004)
2009
16
Acquired syndactyly in epidermolysis bullosa dystrophica. (21691395)
2009
17
Laryngeal stenosis in epidermolysis bullosa dystrophica. (18479854)
2009
18
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (19694005)
2009
19
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (19694003)
2009
20
Clinical management for epidermolysis bullosa dystrophica. (19089295)
2008
21
Large metastasizing squamous cell carcinoma in epidermolysis bullosa dystrophica Hallopeau-Siemens. (17373986)
2007
22
Death from colonic disease in epidermolysis bullosa dystrophica. (16480504)
2006
23
Management of squamous cell carcinoma in a patient with recessive-type epidermolysis bullosa dystrophica. (15522026)
2004
24
Fluoroscopically guided endoluminal balloon dilatation of esophageal stricture due to epidermolysis bullosa dystrophica. (12140654)
2002
25
Anesthetic implications in epidermolysis bullosa dystrophica. (11759144)
2001
26
Spinal anaesthesia in a patient with epidermolysis bullosa dystrophica. (10969376)
2000
27
Epidermolysis bullosa dystrophica of Hallopeau-Siemens and squamous-cell carcinoma: a case report. (8864399)
1996
28
Neonatal retention of type VII collagen, transient bullous dermolysis of the newborn and recessive epidermolysis bullosa dystrophica inversa. (8204486)
1994
29
Image interpretation session: 1992. Esophageal strictures and squamous cell carcinoma of the maxillary sinus and palate in recessive epidermolysis bullosa dystrophica. (8426919)
1993
30
Chronic recurrent esophageal strictures treated with balloon dilation in children with autosomal recessive epidermolysis bullosa dystrophica. (8503396)
1993
31
Cornea plana and sclerocornea in association with recessive epidermolysis bullosa dystrophica. Case report. (1559352)
1992
32
Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia. (1353052)
1992
33
Squamous cell carcinoma developing in epidermolysis bullosa dystrophica. (1955228)
1991
34
Cerebellar ataxia in a family with recurrent epidermolysis bullosa dystrophica. (1952992)
1991
35
Epidermolysis bullosa dystrophica inversa in a child. (2193305)
1990
36
Absence of platelet aggregation activity in blister fluids from epidermolysis bullosa dystrophica and epidermolysis bullosa acquisita. (2288902)
1990
37
Management of oesophageal stenosis in epidermolysis bullosa dystrophica. (2751329)
1989
38
Management of esophageal spasm in epidermolysis bullosa dystrophica using verapamil. (2732859)
1989
39
Dilated cardiomyopathy complicating a case of epidermolysis bullosa dystrophica. (2704658)
1989
40
Dermatology diagnosis. Epidermolysis bullosa dystrophica. (3166664)
1988
41
Regional anesthesia in children with epidermolysis bullosa dystrophica. (3345006)
1988
42
The spectrum of renal involvement in epidermolysis bullosa dystrophica hereditaria: report of two cases. (3369444)
1988
43
Anaesthetic management in patients with epidermolysis bullosa dystrophica. (3407874)
1988
44
Osteogenic sarcoma of the tibia in a patient with epidermolysis bullosa dystrophica. (3422608)
1988
45
Successful prosthetic fitting of a patient with epidermolysis bullosa dystrophica. Case report. (3377888)
1988
46
Collagen biosynthesis in a case of epidermolysis bullosa dystrophica recessiva. (2436409)
1987
47
Epidermolysis bullosa dystrophica et albopapuloidea (Pasini) (3571561)
1987
48
Autosomal dominant epidermolysis bullosa dystrophica: are the Cockayne-Touraine, the Pasini and the Bart-types different expressions of the same mutant gene? (3621647)
1987
49
Blistering eruption in healthy newborns. Case 3. Epidermolysis bullosa dystrophica. (3947131)
1986
50
ATP-induced cell contraction with epidermolysis bullosa dystrophica recessive and normal dermal fibroblasts. (3018087)
1986

Variations for Epidermolysis Bullosa Dystrophica

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Expression for genes affiliated with Epidermolysis Bullosa Dystrophica

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

Pathways for genes affiliated with Epidermolysis Bullosa Dystrophica

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GO Terms for genes affiliated with Epidermolysis Bullosa Dystrophica

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

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:00056049.5COL7A1, DST, FBN1
2extracellular matrixGO:00310129.1COL7A1, FBN1, MMP1, MMP10, MMP3
3proteinaceous extracellular matrixGO:00055788.5COL7A1, FBN1, MMP1, MMP10, MMP3

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of protein oligomerizationGO:00324619.8MMP1, MMP3
2collagen catabolic processGO:00305749.5COL7A1, MMP1, MMP10, MMP3
3extracellular matrix disassemblyGO:00226179.1FBN1, MMP1, MMP10, MMP3

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

idNameGO IDScoreTop Affiliating Genes
1metalloendopeptidase activityGO:000422210.0MMP1, MMP10, MMP3
2metallopeptidase activityGO:000823710.0MMP1, MMP10, MMP3
3serine-type endopeptidase activityGO:00042529.3MMP1, MMP10, MMP3
4calcium ion bindingGO:00055098.2DST, FBN1, FLG, MMP1, MMP10, MMP3

Sources for Epidermolysis Bullosa Dystrophica

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet