MCID: RCS002
MIFTS: 52

Recessive Dystrophic Epidermolysis Bullosa malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Recessive Dystrophic Epidermolysis Bullosa

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Aliases & Descriptions for Recessive Dystrophic Epidermolysis Bullosa:

Name: Recessive Dystrophic Epidermolysis Bullosa 11 47 24 26 34
Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type 11 47
Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis 11 47
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa 11 47
Rdeb, Hallopeau-Siemens Type 11 47
Severe Generalized Rdeb 11 47
Rdeb-Sev Gen 47 24
Recessive Dystrophic Epidermolysis Bullosa, Generalized, Severe 24
 
Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized 47
Hallopeau-Siemens Type, Rdeb 24
Hallopeau-Siemens Disease 67
Rdeb Generalisata Gravis 47
Rdeb, Severe Generalized 47
Rdeb-Hs 24
Rdeb 24

Classifications:



External Ids:

Disease Ontology11 DOID:0060642
ICD1029 Q81.2

Summaries for Recessive Dystrophic Epidermolysis Bullosa

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Disease Ontology:11 An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has material basis in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21.

MalaCards based summary: Recessive Dystrophic Epidermolysis Bullosa, also known as autosomal recessive dystrophic epidermolysis bullosa, hallopeau-siemens type, is related to epidermolysis bullosa dystrophica, ar and recessive dystrophic epidermolysis bullosa-generalized other, and has symptoms including constipation, constipation and onychomadesis. An important gene associated with Recessive Dystrophic Epidermolysis Bullosa is COL7A1 (Collagen Type VII Alpha 1 Chain), and among its related pathways are Rheumatoid arthritis and Glucocorticoid receptor regulatory network. Affiliated tissues include skin, bone and bone marrow, and related mouse phenotypes are liver/biliary system and pigmentation.

Related Diseases for Recessive Dystrophic Epidermolysis Bullosa

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Diseases in the Dominant Dystrophic Epidermolysis Bullosa family:

recessive dystrophic epidermolysis bullosa

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

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa dystrophica, ar34.0COL7A1, MMP1
2recessive dystrophic epidermolysis bullosa-generalized other12.4
3centripetalis recessive dystrophic epidermolysis bullosa12.2
4epidermolysis bullosa11.3
5pacs1-related syndrome10.7COL7A1, MIR711
6scleroderma, familial progressive10.7COL7A1, MIR711
7tietz albinism-deafness syndrome10.7COL7A1, MIR711
8classic endocrine tumor of appendix10.5FLG, MMP1
9familial nephrotic syndrome10.5COL7A1, MIR711, MMP1
10esophagitis10.5
11brachydactyly type a310.5FLG, KRT1
12epidermolysis bullosa pruriginosa10.4COL7A1, FLG, MIR711, MMP1
13congenital methemoglobinemia10.4COL7A1, TGFB1
14pseudoangiomatous stromal hyperplasia10.3IGFBP3, TP53
15salivary gland adenoid cystic carcinoma10.3CDKN2A, TP53
16keratopathy10.3MMP1, TGFB1, TP53
17biliary papillomatosis10.3CDKN2A, TP53
18boylan dew greco syndrome10.3CDKN2A, FLG
19split hand split foot malformation autosomal recessive10.3CDKN2A, TP53
20cryptosporidiosis10.3FLG, TP53
21amyloidosis10.3
22foxg1 syndrome10.3JUN, TP53
23adenoid squamous cell carcinoma10.2CDKN2A, TP53
24simple partial epilepsy10.2CDKN2A, TP53
25glomerulonephritis10.2
26cardiomyopathy10.2
27cerebellar vermis medulloblastoma10.2IGFBP3, TGFB1, TP53
28septicemic plague10.1IGFBP3, TGFB1, TP53
29stromal keratitis10.1CDKN2A, MMP1, TP53
30pancreatic somatostatinoma10.1CDKN2A, TGFB1, TP53
31hodgkin's granuloma10.1CDKN2A, MMP1, TP53
32acute poisoning by drugs with membrane-stabilizing effect10.1FLG, IVL, KRT1
33paroxysmal nocturnal hemoglobinuria10.1CDKN2A, TGFB1, TP53
34gallbladder papillomatosis10.1CDKN2A, TGFB1, TP53
35ampulla of vater squamous cell carcinoma10.1CDKN2A, TP53
36breast cancer10.0
37osteoporosis10.0
38marfan syndrome10.0
39arteriovenous fistula10.0
40dilated cardiomyopathy10.0
41hepatitis10.0
42left ventricular noncompaction10.0
43dental caries10.0
44basal cell carcinoma10.0
45iga glomerulonephritis10.0
46hidrocystoma10.0
47epidermolysis bullosa simplex10.0
48peritonitis10.0
49dwarfism10.0
50anti-p200 pemphigoid10.0

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



Diseases related to recessive dystrophic epidermolysis bullosa

Symptoms for Recessive Dystrophic Epidermolysis Bullosa

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UMLS symptoms related to Recessive Dystrophic Epidermolysis Bullosa:


constipation, onychomadesis

Drugs & Therapeutics for Recessive Dystrophic Epidermolysis Bullosa

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

(show all 30)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1MitogensPhase 1, Phase 21526
2GentamicinsPhase 1, Phase 2137
3Anti-Infective AgentsPhase 1, Phase 221402
4Anti-Bacterial AgentsPhase 1, Phase 210884
5Antibiotics, AntitubercularPhase 1, Phase 26972
6Anti-Inflammatory AgentsPhase 1, Phase 210355
7Anesthetics, GeneralPhase 1, Phase 22787
8AnestheticsPhase 1, Phase 29001
9
IsotretinoinapprovedPhase 11184759-48-25538, 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
10Dermatologic AgentsPhase 15674
11
Busulfanapproved, investigationalEarly Phase 154055-98-12478
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)
12
FludarabineapprovedEarly Phase 1111321679-14-1, 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
13
Tacrolimusapproved, investigationalEarly Phase 11074104987-11-3445643, 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
14
alemtuzumabapproved, investigationalEarly Phase 1303216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
15
LorazepamapprovedEarly Phase 1120846-49-13958
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
16
Heparinapproved, investigational8129005-49-6772, 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
17
Edetic Acidapproved, vet_approved9560-00-4, 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
18
Petrolatumapproved898009-03-8
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
19
Cyclophosphamideapproved, investigational282950-18-0, 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
20Immunoglobulins6045
21Pentetic Acid95
22Antibodies6045
23calcium heparin812
24Autoantibodies126
25Antirheumatic Agents10627
26Immunosuppressive Agents12770
27Alkylating Agents4694
28Antimetabolites11774
29Antimetabolites, Antineoplastic7171
30Antineoplastic Agents, Alkylating4474

Interventional clinical trials:

(show all 21)
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 BullosaRecruitingNCT02384460Phase 3
3Study of Effectiveness and Safety of SD-101 in Subjects With Epidermolysis BullosaCompletedNCT02014376Phase 2
4Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis BullosaRecruitingNCT02323789Phase 1, Phase 2
5Gene Transfer for Recessive Dystrophic Epidermolysis BullosaRecruitingNCT01263379Phase 1, Phase 2
6Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa Patients With Nonsense MutationsRecruitingNCT03012191Phase 1, Phase 2
7A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa (RDEB)RecruitingNCT02810951Phase 1, Phase 2
8Clinical Trial to Assess Safety and Efficacy of Autologous Cultured Epidermal Grafts Containing Epidermal Stem Cells Genetically Modified in Patients With RDEB.Active, not recruitingNCT02984085Phase 1, Phase 2
9Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis BullosaCompletedNCT00014729Phase 1
10Autologous Transplantation of Cultured Fibroblast on Amniotic Membrane in Patients With Epidermolysis BullosaCompletedNCT01908088Phase 1
11Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis BullosaRecruitingNCT02493816Phase 1
12Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB)Unknown statusNCT01874769
13Allogeneic Stem Cell Transplantation (ALLOSCT) in Recessive Dystrophic Epidermolysis Bullosa (RDEB)Unknown statusNCT00881556Early Phase 1
14Characteristics of Adult Patients With Recessive Dystrophic Epidermolysis BullosaCompletedNCT00904163
15Treatment of Chronic and Non-Chronic Wounds in Patients With Recessive Dystrophic Epidermolysis Bullosa Using Helicoll Collagen Dressings Versus Standard of CareCompletedNCT01716169
16Characteristics of Patients With Recessive Dystrophic Epidermolysis BullosaRecruitingNCT01019148
17Open Label Extension Study to Evaluate the Safety of SD-101 Cream in Subjects With Epidermolysis BullosaActive, not recruitingNCT02090283
18Open Label Extension Study to Evaluate the Long-term Safety of Zorblisa (SD-101-6.0) in Patients With Epidermolysis BullosaActive, not recruitingNCT02670330
19Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation PatientsEnrolling by invitationNCT02698735
20Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene TransferTerminatedNCT00533572
21Allogeneic Hematopoietic Stem Cell Transplant For Epidermolysis BullosaTerminatedNCT00478244

Search NIH Clinical Center for Recessive Dystrophic Epidermolysis Bullosa

Genetic Tests for Recessive Dystrophic Epidermolysis Bullosa

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Genetic tests related to Recessive Dystrophic Epidermolysis Bullosa:

id Genetic test Affiliating Genes
1 Recessive Dystrophic Epidermolysis Bullosa26 24
2 Recessive Dystrophic Epidermolysis Bullosa, Generalized, Severe24 COL7A1

Anatomical Context for Recessive Dystrophic Epidermolysis Bullosa

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MalaCards organs/tissues related to Recessive Dystrophic Epidermolysis Bullosa:

35
Skin, Bone, Bone marrow, Pons, Lymph node, Ovary

Animal Models for Recessive Dystrophic Epidermolysis Bullosa or affiliated genes

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MGI Mouse Phenotypes related to Recessive Dystrophic Epidermolysis Bullosa:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053707.9ARG1, CDKN2A, GHRH, IGFBP3, JUN, RXRA
2MP:00011867.8CDKN2A, GGT1, IGFBP3, KRT1, RXRA, TP53
3MP:00107717.7CDKN2A, COL7A1, GGT1, IGFBP3, JUN, KRT1
4MP:00053877.6ARG1, CDKN2A, GGT1, GHRH, JUN, KRT1
5MP:00053767.1ARG1, CDKN2A, GGT1, GHRH, IGFBP3, JUN

Publications for Recessive Dystrophic Epidermolysis Bullosa

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Articles related to Recessive Dystrophic Epidermolysis Bullosa:

(show top 50)    (show all 332)
idTitleAuthorsYear
1
Long-Term Follow-Up of Amniotic Membrane Graft for the Treatment of Symblepharon in a Patient With Recessive Dystrophic Epidermolysis Bullosa. (27124783)
2016
2
A Non-Viral Gene Therapy for Treatment of Recessive Dystrophic Epidermolysis Bullosa. (27117059)
2016
3
Gene-Corrected Fibroblast Therapy for Recessive Dystrophic Epidermolysis Bullosa using a Self-Inactivating COL7A1 RetroviralA Vector. (26994967)
2016
4
Safety and Wound Outcomes Following Genetically Corrected Autologous Epidermal Grafts in Patients With Recessive Dystrophic Epidermolysis Bullosa. (27802546)
2016
5
Quality of Life and Economic Burden in Recessive Dystrophic Epidermolysis Bullosa. (26848213)
2016
6
Persistent elevation of serum interleukin-6 and serum amyloid A levels in patients with recessive dystrophic epidermolysis bullosa. (27777188)
2016
7
Recessive dystrophic epidermolysis bullosa (RDEB) complicated by secondary hepatic amyloidosis. (27051772)
2015
8
Pseudosyndactyly - an inflammatory and fibrotic wound healing disorder in recessive dystrophic epidermolysis bullosa. (26612796)
2015
9
Long-term outcomes in adults with recessive dystrophic epidermolysis bullosa fed by a gastrostomy tube in situ. (26340599)
2015
10
Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa. (26148662)
2015
11
Phase I/II ex vivo gene therapy clinical trial for recessive dystrophic epidermolysis bullosa using skin equivalent grafts genetically corrected with a COL7A1-encoding SIN retroviral vector (GENEGRAFT). (24933565)
2014
12
Somatic forward (nonrevertant) mosaicism in recessive dystrophic epidermolysis bullosa. (24989707)
2014
13
The evaluation of family impact of recessive dystrophic epidermolysis bullosa using the Italian version of the Family Dermatology Life Quality Index. (22882670)
2013
14
Human Cord Blood Derived Unrestricted Somatic Stem Cells Promote Wound Healing and Have Therapeutic Potential for Patients With Recessive Dystrophic Epidermolysis Bullosa. (23394106)
2013
15
Recurring breast cancer in a patient with recessive dystrophic epidermolysis bullosa. (24416756)
2013
16
Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells. (21555586)
2011
17
A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families. (20920254)
2010
18
Fibroblast-based cell therapy strategy for recessive dystrophic epidermolysis bullosa. (20447505)
2010
19
Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations. (19665875)
2009
20
A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa. (18030675)
2008
21
Postoperative hand treatment in children with recessive dystrophic epidermolysis bullosa. (18215755)
2008
22
Verruciform xanthoma in recessive dystrophic epidermolysis bullosa Hallopeau-Siemens. (17822501)
2007
23
Globalization of DNA-based prenatal diagnosis for recessive dystrophic epidermolysis bullosa. (17868393)
2007
24
Recessive dystrophic epidermolysis bullosa associated with dilated cardiomyopathy. (17553043)
2007
25
Amnia for intractable skin ulcers with recessive dystrophic epidermolysis bullosa: report of three cases. (17408442)
2007
26
Large atypical melanocytic nevi in recessive dystrophic epidermolysis bullosa: clinicopathological, ultrastructural, and dermoscopic study. (16060872)
2005
27
Involvement of p53 and p16 tumor suppressor genes in recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma. (15373786)
2004
28
Reduced expression of insulin-like growth factor-binding protein-3 (IGFBP-3) in Squamous cell carcinoma complicating recessive dystrophic epidermolysis bullosa. (15140235)
2004
29
Apligraf in the treatment of severe mitten deformity associated with recessive dystrophic epidermolysis bullosa. (12900618)
2003
30
Compound heterozygosity for premature termination codon and glycine substitution mutations in the COL7A1 gene in Korean siblings with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa. (14643524)
2003
31
Colchicine therapy in amyloid nephropathy due to recessive dystrophic epidermolysis bullosa. (14586686)
2003
32
Splice site mutation in the type VII collagen gene (COL7A1) in a Taiwanese family with recessive dystrophic epidermolysis bullosa. (11000732)
2000
33
Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts. (10408773)
1999
34
Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa. (9804332)
1998
35
Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa. (9242516)
1997
36
Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein. (9284110)
1997
37
A new protocol for the treatment of hand deformities in recessive dystrophic epidermolysis bullosa (13 cases). (9259950)
1997
38
Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1). (8900535)
1996
39
Phenytoin therapy in recessive dystrophic epidermolysis bullosa. (20952940)
1995
40
Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa. (7883979)
1995
41
A scleroderma-like variant of recessive dystrophic epidermolysis bullosa? (8251361)
1993
42
Malignant melanoma and a squamous cell carcinoma in recessive dystrophic epidermolysis bullosa. (8363416)
1993
43
Mitten deformity in severe generalized recessive dystrophic epidermolysis bullosa: histological, immunofluorescence, and ultrastructural study. (1474191)
1992
44
Anchoring fibrils, collagen VII, and neutral metalloproteases in recessive dystrophic epidermolysis bullosa inversa. (1431215)
1992
45
Increased gene expression of matrix metalloproteinase-3 (stromelysin) in skin fibroblasts from patients with severe recessive dystrophic epidermolysis bullosa. (1704217)
1991
46
Lack of type VII collagen in unaffected skin of patients with severe recessive dystrophic epidermolysis bullosa. (3286309)
1988
47
Antenatal diagnosis of recessive dystrophic epidermolysis bullosa: collagenase expression in cultured fibroblasts as a biochemical marker. (3021861)
1986
48
Human skin collagenase: assignment of the structural gene to chromosome 11 in both normal and recessive dystrophic epidermolysis bullosa cells using human-mouse somatic cell hybrids. (6303680)
1983
49
Recessive dystrophic epidermolysis bullosa and multiple squamous cell carcinomas. (7117649)
1982
50
Phenytoin therapy of recessive dystrophic epidermolysis bullosa. Clinical trial and proposed mechanism of action on collagenase. (6251365)
1980

Variations for Recessive Dystrophic Epidermolysis Bullosa

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Clinvar genetic disease variations for Recessive Dystrophic Epidermolysis Bullosa:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL7A1NM_000094.3(COL7A1): c.5443G> A (p.Gly1815Arg)SNVPathogenicrs121912841GRCh38Chr 3, 48578497: 48578497
2COL7A1NM_000094.3(COL7A1): c.4783G> C (p.Gly1595Arg)SNVPathogenicrs121912840GRCh37Chr 3, 48618916: 48618916
3COL7A1NM_000094.3(COL7A1): c.6859G> A (p.Gly2287Arg)SNVPathogenicrs121912839GRCh37Chr 3, 48610145: 48610145

Expression for genes affiliated with Recessive Dystrophic Epidermolysis Bullosa

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Search GEO for disease gene expression data for Recessive Dystrophic Epidermolysis Bullosa.

Pathways for genes affiliated with Recessive Dystrophic Epidermolysis Bullosa

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GO Terms for genes affiliated with Recessive Dystrophic Epidermolysis Bullosa

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

idNameGO IDScoreTop Affiliating Genes
1collagen type VII trimerGO:000559010.4COL7A1, MIR711
2extracellular regionGO:00055767.6COL7A1, GHRH, HMGB1, IGFBP3, MIR711, MMP1
3extracellular spaceGO:00056157.1ARG1, COL7A1, GGT1, GHRH, HMGB1, IGFBP3

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1SMAD protein import into nucleusGO:000718410.7JUN, TGFB1
2positive regulation of protein oligomerizationGO:003246110.4MMP1, TP53
3positive regulation of histone deacetylationGO:003106510.4TGFB1, TP53
4positive regulation of insulin-like growth factor receptor signaling pathwayGO:004356810.4GHRH, IGFBP3
5replicative senescenceGO:009039910.2CDKN2A, TP53
6chromatin assemblyGO:003149710.2HMGB1, TP53
7negative regulation of blood vessel endothelial cell migrationGO:004353710.1HMGB1, TGFB1
8response to selenium ionGO:001026910.1ARG1, RXRA
9collagen catabolic processGO:003057410.0COL7A1, MIR711, MMP1
10axon regenerationGO:00311039.7JUN, RXRA
11regulation of apoptotic processGO:00429819.5DAPK3, IGFBP3, TGFB1, TP53
12Ras protein signal transductionGO:00072659.4CDKN2A, JUN, TP53
13agingGO:00075688.7ARG1, JUN, RXRA, TGFB1
14negative regulation of cell proliferationGO:00082858.1CDKN2A, IGFBP3, JUN, RXRA, TGFB1, TP53
15positive regulation of apoptotic processGO:00430657.7DAPK3, HMGB1, IGFBP3, JUN, RXRA, TGFB1

Sources for Recessive Dystrophic Epidermolysis Bullosa

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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