RDEB
MCID: RCS002
MIFTS: 50

Recessive Dystrophic Epidermolysis Bullosa (RDEB) 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 48 24 27 13 35
Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type 11 48
Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis 11 48
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa 11 48
Rdeb, Hallopeau-Siemens Type 11 48
Severe Generalized Rdeb 11 48
Rdeb-Sev Gen 48 24
Recessive Dystrophic Epidermolysis Bullosa, Generalized, Severe 24
 
Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized 48
Hallopeau-Siemens Type, Rdeb 24
Hallopeau-Siemens Disease 68
Rdeb Generalisata Gravis 48
Rdeb, Severe Generalized 48
Rdeb-Hs 24
Rdeb 24

Classifications:



External Ids:

Disease Ontology11 DOID:0060642
ICD1030 Q81.2

Summaries for Recessive Dystrophic Epidermolysis Bullosa

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NIH Rare Diseases:48 Severe generalized recessive dystrophic epidermolysis bullosa is the most severe types of dystrophic epidermolysis bullosa. the signs and symptoms of this condition involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. as the blisters heal, they result in severe scarring. scarring in the mouth and esophagus can make it difficult to eat food, leading to poor nutrition and slow growth. additionally, individuals with this condition have a very high risk of developing a form of skin cancer called squamous cell carcinoma, which tends to be unusually aggressive and is often life-threatening. severe generalized recessive dystrophic epidermolysis bullosa is caused by mutations in the col7a1 gene and is inherited in an autosomal recessive pattern. there is no cure for this condition and treatment is aimed at preventing blisters from forming and managing symptoms. last updated: 2/5/2014

MalaCards based summary: Recessive Dystrophic Epidermolysis Bullosa, also known as autosomal recessive dystrophic epidermolysis bullosa, hallopeau-siemens type, is related to recessive dystrophic epidermolysis bullosa-generalized other and centripetalis recessive dystrophic epidermolysis bullosa, 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 Hepatitis C and Hepatocellular Carcinoma. Affiliated tissues include skin, bone and bone marrow, and related mouse phenotype Increased shRNA abundance (Z-score > 2).

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.

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 all 43)
idRelated DiseaseScoreTop Affiliating Genes
1recessive dystrophic epidermolysis bullosa-generalized other12.4
2centripetalis recessive dystrophic epidermolysis bullosa12.2
3recessive dystrophic epidermolysis bullosa, generalized, severe, modifier of12.2
4epidermolysis bullosa dystrophica, ar12.0
5epidermolysis bullosa11.3
6squamous cell carcinoma10.8
7esophagitis10.5
8amyloidosis10.3
9ebd, bart type10.2COL7A1, MMP1
10glomerulonephritis10.2
11cardiomyopathy10.2
12adult-onset distal myopathy due to vcp mutation10.1FLG, MMP1
13diffuse large b-cell lymphoma10.1MMP1, TGFB1
14noonan syndrome 410.1MMP1, TGFB1
15leber congenital amaurosis10.1MMP1, TGFB1
16hereditary night blindness10.1MMP1, TGFB1
17zika fever10.1MMP1, TGFB1
18cholera10.0MMP1, TGFB1
19cataract 18, autosomal recessive10.0COL7A1, FLG, MMP1
20fecal incontinence10.0COL7A1, FLG, MMP1
21breast cancer10.0
22osteoporosis10.0
23marfan syndrome10.0
24arteriovenous fistula10.0
25dilated cardiomyopathy10.0
26hepatitis10.0
27left ventricular noncompaction10.0
28nephrotic syndrome10.0
29ichthyosis10.0
30melanoma10.0
31dental caries10.0
32basal cell carcinoma10.0
33iga glomerulonephritis10.0
34hidrocystoma10.0
35epidermolysis bullosa simplex10.0
36peritonitis10.0
37dwarfism10.0
38anti-p200 pemphigoid10.0
39splenic marginal zone lymphoma10.0ARG1, TGFB1
40germ cell and embryonal cancer9.9MMP1, TGFB1
41immunoglobulin g deficiency9.8HMGB1, TGFB1
42rheumatoid arthritis9.6FLG, HMGB1, MMP1, TGFB1
43catecholaminergic polymorphic ventricular tachycardia8.9ARG1, COL7A1, FLG, HMGB1, MMP1, PLOD3

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



Diseases related to recessive dystrophic epidermolysis bullosa

Symptoms & Phenotypes for Recessive Dystrophic Epidermolysis Bullosa

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Human phenotypes related to Recessive Dystrophic Epidermolysis Bullosa:

 64 (show all 28)
id Description HPO Frequency HPO Source Accession
1 narrow mouth64 HP:0000160
2 blepharitis64 HP:0000498
3 progressive visual loss64 HP:0000529
4 ectropion64 HP:0000656
5 carious teeth64 HP:0000670
6 delayed puberty64 HP:0000823
7 osteopenia64 HP:0000938
8 osteoporosis64 HP:0000939
9 pruritus64 HP:0000989
10 milia64 HP:0001056
11 flexion contracture64 HP:0001371
12 dilated cardiomyopathy64 HP:0001644
13 absent toenail64 HP:0001802
14 absent fingernail64 HP:0001817
15 dysphagia64 HP:0002015
16 constipation64 HP:0002019
17 esophageal stricture64 HP:0002043
18 hypoalbuminemia64 HP:0003073
19 mitten deformity64 HP:0004057
20 dermal atrophy64 HP:0004334
21 abnormality of the anus64 HP:0004378
22 scarring alopecia of scalp64 HP:0004552
23 refractory anemia64 HP:0005505
24 squamous cell carcinoma of the skin64 HP:0006739
25 abnormal blistering of the skin64 HP:0008066
26 ankyloglossia64 HP:0010296
27 loss of eyelashes64 HP:0011457
28 corneal erosion64 HP:0200020

UMLS symptoms related to Recessive Dystrophic Epidermolysis Bullosa:


constipation, onychomadesis

GenomeRNAi Phenotypes related to Recessive Dystrophic Epidermolysis Bullosa according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1928.7ARG1, PLOD3, TGFB1

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
1Antibiotics, AntitubercularPhase 1, Phase 27180
2Anti-Inflammatory AgentsPhase 1, Phase 210729
3Anesthetics, GeneralPhase 1, Phase 22934
4AnestheticsPhase 1, Phase 29596
5Anti-Infective AgentsPhase 1, Phase 222062
6GentamicinsPhase 1, Phase 2140
7Anti-Bacterial AgentsPhase 1, Phase 211226
8MitogensPhase 1, Phase 21617
9
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
10Dermatologic AgentsPhase 15806
11
alemtuzumabapproved, investigationalEarly Phase 1310216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
12
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)
13
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
14
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
15
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
16
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
17
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
18
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
19
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
20Immunoglobulins6394
21Pentetic Acid99
22Antibodies6394
23calcium heparin848
24Autoantibodies130
25Antirheumatic Agents10956
26Immunosuppressive Agents13086
27Alkylating Agents4827
28Antimetabolites12054
29Antimetabolites, Antineoplastic7361
30Antineoplastic Agents, Alkylating4603

Interventional clinical trials:

(show all 22)
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
3Study of Effectiveness and Safety of SD-101 in Subjects With Epidermolysis BullosaCompletedNCT02014376Phase 2
4Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa Patients With Nonsense MutationsRecruitingNCT03012191Phase 1, Phase 2
5Clinical 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
6A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa (RDEB)RecruitingNCT02810951Phase 1, Phase 2
7Gene Transfer for Recessive Dystrophic Epidermolysis BullosaRecruitingNCT01263379Phase 1, Phase 2
8Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis BullosaActive, not recruitingNCT02323789Phase 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
17Survey to Identify Burdens and Unmet Needs of Patients With Epidermolysis BullosaRecruitingNCT03158662
18Open Label Extension Study to Evaluate the Safety of SD-101 Cream in Subjects With Epidermolysis BullosaActive, not recruitingNCT02090283
19Open Label Extension Study to Evaluate the Long-term Safety of Zorblisa (SD-101-6.0) in Patients With Epidermolysis BullosaActive, not recruitingNCT02670330
20Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation PatientsEnrolling by invitationNCT02698735
21Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene TransferTerminatedNCT00533572
22Allogeneic 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 Bullosa27 24
2 Recessive Dystrophic Epidermolysis Bullosa, Generalized, Severe24 COL7A1

Anatomical Context for Recessive Dystrophic Epidermolysis Bullosa

About this section

MalaCards organs/tissues related to Recessive Dystrophic Epidermolysis Bullosa:

36
Skin, Bone, Bone marrow, Pons, Ovary, Breast, Lymph node

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
Persistent elevation of serum interleukin-6 and serum amyloid A levels in patients with recessive dystrophic epidermolysis bullosa. (27777188)
2016
2
Correction of recessive dystrophic epidermolysis bullosa by transposon-mediated integration of COL7A1 in transplantable patient-derived primary keratinocytes. (28027893)
2016
3
Long-Term Follow-Up of Amniotic Membrane Graft for the Treatment of Symblepharon in a Patient With Recessive Dystrophic Epidermolysis Bullosa. (27124783)
2016
4
Toxic Epidermal Necrolysis in Recessive Dystrophic Epidermolysis Bullosa following Bone Marrow Transplantation. (26976809)
2016
5
Gene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes. (27045209)
2016
6
Quality of Life and Economic Burden in Recessive Dystrophic Epidermolysis Bullosa. (26848213)
2016
7
Canakinumab in recessive dystrophic epidermolysis bullosa: a novel unexpected weapon for non-healing wounds? (26885873)
2016
8
Maintenance Hemodialysis Using Native Arteriovenous Fistula in a Patient with Severe Generalized Recessive Dystrophic Epidermolysis Bullosa. (27722157)
2016
9
miR-29 Regulates Type VII Collagen in Recessive Dystrophic Epidermolysis Bullosa. (27328306)
2016
10
The Importance of Esophagography in Patients With Recessive Dystrophic Epidermolysis Bullosa. (27384758)
2016
11
A Non-Viral Gene Therapy for Treatment of Recessive Dystrophic Epidermolysis Bullosa. (27117059)
2016
12
Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa. (27408687)
2016
13
A type VII collagen subdomain mutant is thermolabile and shows enhanced proteolytic degradability - implications for the pathogenesis of recessive dystrophic epidermolysis bullosa? (27989960)
2016
14
Recessive dystrophic epidermolysis bullosa caused by a de novo interstitial deletion spanning COL7A1 and a hemizygous splicing mutation in trans. (26940370)
2016
15
Meganuclease-Mediated COL7A1 Gene Correction for Recessive Dystrophic Epidermolysis Bullosa. (26897595)
2016
16
Integration-free T cell-derived human induced pluripotent stem cells (iPSCs) from a patient with recessive dystrophic epidermolysis bullosa (RDEB) carrying two compound heterozygous mutations in the COL7A1 gene. (27558600)
2016
17
Gene-Corrected Fibroblast Therapy for Recessive Dystrophic Epidermolysis Bullosa using a Self-Inactivating COL7A1 RetroviralA Vector. (26994967)
2016
18
Safety and Wound Outcomes Following Genetically Corrected Autologous Epidermal Grafts in Patients With Recessive Dystrophic Epidermolysis Bullosa. (27802546)
2016
19
Type VII Collagen Replacement Therapy in Recessive Dystrophic Epidermolysis Bullosa-How Much, How Often? (27212645)
2016
20
Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa. (27754488)
2016
21
Pseudosyndactyly - an inflammatory and fibrotic wound healing disorder in recessive dystrophic epidermolysis bullosa. (26612796)
2015
22
Potential of Systemic Allogeneic Mesenchymal Stromal Cell Therapy for Children With Recessive Dystrophic Epidermolysis Bullosa. (25905587)
2015
23
Gene editing toward the use of autologous therapies in recessive dystrophic epidermolysis bullosa. (26073463)
2015
24
Verruciform xanthoma developing in eroded skin of recessive dystrophic epidermolysis bullosa. (26242428)
2015
25
Ventricular Dysfunction and Aortic Dilation in Patients with Recessive Dystrophic Epidermolysis Bullosa. (26370777)
2015
26
Intravenously Administered Recombinant Human Type VII Collagen Derived from Chinese Hamster Ovary Cells Reverses the Disease Phenotype in Recessive Dystrophic Epidermolysis Bullosa Mice. (26203639)
2015
27
Recessive dystrophic epidermolysis bullosa (RDEB) complicated by secondary hepatic amyloidosis. (27051772)
2015
28
Innovative Therapeutic Strategies for Recessive Dystrophic Epidermolysis Bullosa. (25796272)
2015
29
Peripheral neuro-immune pathology in recessive dystrophic epidermolysis bullosa. (25431850)
2015
30
One Novel Frameshift Mutation on Exon 64 of COL7A1 Gene in an Iranian Individual Suffering Recessive Dystrophic Epidermolysis Bullosa. (26586712)
2015
31
Long-term outcomes in adults with recessive dystrophic epidermolysis bullosa fed by a gastrostomy tube in situ. (26340599)
2015
32
Update on the pathogenesis of squamous cell carcinoma development in recessive dystrophic epidermolysis bullosa. (26083672)
2015
33
Recessive Dystrophic Epidermolysis Bullosa: Advances in the Laboratory Leading to New Therapies. (26066885)
2015
34
A COL7A1 variant leading to in-frame skipping of exon 15 attenuates disease severity in recessive dystrophic epidermolysis bullosa. (26076072)
2015
35
Transplanted bone marrow-derived circulating PDGFRI++ cells restore type VII collagen in recessive dystrophic epidermolysis bullosa mouse skin graft. (25601922)
2015
36
Rescue of the Mucocutaneous Manifestations by Human Cord Blood Derived Non-Hematopoietic Stem Cells in a Mouse Model of Recessive Dystrophic Epidermolysis Bullosa. (25640200)
2015
37
Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa. (26380979)
2015
38
Purified type I collagen wound matrix improves chronic wound healing in patients with recessive dystrophic epidermolysis bullosa. (25557742)
2015
39
Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa. (26148662)
2015
40
Induced pluripotent stem cells for the treatment of recessive dystrophic epidermolysis bullosa. (26807404)
2015
41
Recessive dystrophic epidermolysis bullosa: a review of disease pathogenesis and update on future therapies. (26029334)
2015
42
Electrochemotherapy, a potential new treatment for the management of squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa: report of three cases. (25758658)
2015
43
Evaluation of wound care options in patients with recessive dystrophic epidermolysis bullosa: a costly necessity. (24224977)
2014
44
Surgical management with CO2 laser for pseudosyndactyly in recessive dystrophic epidermolysis bullosa. (25041083)
2014
45
High levels of type VII collagen expression in recessive dystrophic epidermolysis bullosa cutaneous squamous cell carcinoma keratinocytes increases PI3K and MAPK signalling, cell migration and invasion. (24641191)
2014
46
Genetically corrected iPSCs as cell therapy for recessive dystrophic epidermolysis bullosa. (25429058)
2014
47
Human COL7A1-corrected induced pluripotent stem cells for the treatment of recessive dystrophic epidermolysis bullosa. (25429056)
2014
48
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
49
An investigation into the MMP1 gene promoter region polymorphism--1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients. (24899116)
2014
50
Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-I^ signalling in modifying disease severity. (24599399)
2014

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.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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Pathways related to Recessive Dystrophic Epidermolysis Bullosa according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.6MMP1, TGFB1
29.6MMP1, TGFB1
39.6MMP1, TGFB1
4
Show member pathways
8.8COL7A1, MMP1, PLOD3, TGFB1

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
1extracellular matrixGO:00310129.9COL7A1, MMP1, TGFB1
2proteinaceous extracellular matrixGO:00055789.2COL7A1, MMP1, TGFB1

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

idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:003057410.3COL7A1, MMP1
2neural tube developmentGO:002191510.0PLOD3, TGFB1
3negative regulation of blood vessel endothelial cell migrationGO:00435379.9HMGB1, TGFB1
4cellular response to dexamethasone stimulusGO:00715499.7ARG1, TGFB1
5cellular response to transforming growth factor beta stimulusGO:00715609.7ARG1, TGFB1
6response to woundingGO:00096119.1ARG1, TGFB1

Sources for Recessive Dystrophic Epidermolysis Bullosa

About this section
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