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EB
MCID: EPD016
MIFTS: 54

Epidermolysis Bullosa (EB)

Categories: Rare diseases, Skin diseases
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Aliases & Classifications for Epidermolysis Bullosa

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MalaCards integrated aliases for Epidermolysis Bullosa:

Name: Epidermolysis Bullosa 11 19 75 28 53 5 43 14 38 16 71 31 33
Acantholysis Bullosa 11
Eb 19

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 31
ICD11: 33


External Ids:

Disease Ontology 11 DOID:2730
MeSH 43 D004820
NCIt 49 C67383
SNOMED-CT 68 205580008
ICD10 31 Q81 Q81.9
UMLS 71 C0014527
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Summaries for Epidermolysis Bullosa

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GARD: 19 Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister and erode very easily. In people with EB, blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of EB, which are classified based on the depth, or level, of blister formation: Epidermolysis bullosa simplex Dystrophic Epidermolysis bullosa Junctional Epidermolysis bullosa Kindler Syndrome EB may then be further classified based on severity and specific symptoms, such as distribution (localized or generalized) and whether parts of the body other than the skin are affected. Specific sub-types may then be determined based on identifying the exact protein that is defective in a person with EB. This may be done by tests performed on a skin biopsy, or when possible, genetic testing. Identifying the exact sub-type can be hard because there are many sub-types of EB. A person with any main type of EB may be mildly or severely affected, and the disease can range from being a minor inconvenience requiring modifying activities, to completely disabling and even fatal in some cases. EB may be caused by changes in at least 18 genes that play various roles in the structure, integrity, and repair of the skin. Inheritance may be autosomal dominant or autosomal recessive depending on the type and subtype of EB a person has.

MalaCards based summary: Epidermolysis Bullosa, also known as acantholysis bullosa, is related to epidermolysis bullosa simplex 1b, generalized intermediate and epidermolysis bullosa, junctional 1b, severe. An important gene associated with Epidermolysis Bullosa is KRT5 (Keratin 5), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drugs Morphine and Cholecalciferol have been mentioned in the context of this disorder. Affiliated tissues include skin, bone marrow and bone, and related phenotypes are growth/size/body region and immune system

Disease Ontology: 11 A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin.

Wikipedia: 75 Epidermolysis bullosa (EB) is a group of rare medical conditions that result in easy blistering of the... more...
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Related Diseases for Epidermolysis Bullosa

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Diseases in the Epidermolysis Bullosa family:

Inherited Epidermolysis Bullosa

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

(show top 50) (show all 724)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex 1b, generalized intermediate 33.4 KRT5 KRT14
2 epidermolysis bullosa, junctional 1b, severe 33.4 LAMC2 LAMB3 LAMA3 COL7A1 COL17A1
3 epidermolysis bullosa simplex 5c, with pyloric atresia 33.4 PLEC ITGB4
4 epidermolysis bullosa, junctional 1a, intermediate 33.4 LAMC2 LAMB3 LAMA3 ITGB4 COL17A1
5 epidermolysis bullosa, junctional 4, intermediate 33.3 LAMB3 DST COL17A1
6 epidermolysis bullosa simplex 1c, localized 33.3 KRT5 KRT14 ITGB4
7 epidermolysis bullosa simplex 5b, with muscular dystrophy 33.3 PLEC DST
8 epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive 33.3 KRT5 KRT14
9 epidermolysis bullosa acquisita 33.3 LAMC2 LAMA3 ITGB4 DST COL7A1 COL17A1
10 epidermolysis bullosa with pyloric atresia 33.2 PLEC ITGB4 ITGA6
11 epidermolysis bullosa simplex localized type 33.2 PLEC KRT5 KRT14 KRT10 ITGB4
12 autosomal dominant generalized epidermolysis bullosa simplex, severe form 33.2 KRT5 KRT14
13 epidermolysis bullosa simplex generalized type 33.0 PLEC LAMC2 KRT5 KRT14 KLHL24 COL17A1
14 epidermolysis bullosa simplex 1a, generalized severe 32.9 PLEC PKP1 KRT5 KRT14 KRT10 KLHL24
15 intermediate generalized junctional epidermolysis bullosa 32.9 LAMC2 LAMB3 LAMA3 ITGB4 COL17A1
16 epidermolysis bullosa simplex 2f, with mottled pigmentation 32.9 PLEC PKP1 KRT5 KRT14 KRT1 EXPH5
17 junctional epidermolysis bullosa non-herlitz type 32.7 PLEC LAMC2 LAMB3 LAMA3 KRT14 ITGB4
18 recessive dystrophic epidermolysis bullosa 32.7 PLEC LAMB3 LAMA3 KRT14 KRT10 KRT1
19 epidermolysis bullosa dystrophica 32.7 PLEC LAMC2 LAMB3 LAMA3 KRT5 KRT14
20 epidermolysis bullosa, junctional 5b, with pyloric atresia 32.6 PLEC LAMC2 LAMB3 LAMA3 KRT5 KRT14
21 transient bullous dermolysis of the newborn 32.5 PLEC LAMB3 LAMA3 KRT5 KRT14 KLHL24
22 nail disorder, nonsyndromic congenital, 8 32.3 LAMA3 COL7A1
23 junctional epidermolysis bullosa 32.1 PLEC LAMC2 LAMB3 LAMA3 KRT5 KRT14
24 kindler syndrome 31.9 PLEC LAMB3 LAMA3 ITGB4 ITGA6 DST
25 epidermolysis bullosa simplex 31.9 PLEC PKP1 LAMA3 KRT5 KRT14 KRT10
26 pyloric atresia 31.9 PLEC LAMC2 ITGB4 ITGA6 COL17A1
27 pemphigoid 31.6 PLEC LAMB3 LAMA3 ITGB4 ITGA6 DST
28 skin squamous cell carcinoma 31.6 KRT5 KRT14 KRT10
29 aplasia cutis congenita 31.5 PLEC ITGB4 ITGA6
30 alopecia 31.5 KRT14 FLG DSP COL17A1
31 cicatricial pemphigoid 31.4 LAMC2 LAMA3 ITGB4 ITGA6 DST COL17A1
32 bullous pemphigoid 31.3 PLEC LAMC2 LAMB3 LAMA3 KRT5 KRT14
33 pemphigus 31.3 PKP1 DST DSP COL17A1
34 pemphigus vulgaris, familial 31.2 DST DSP COL17A1
35 autosomal dominant epidermolytic ichthyosis 31.1 KRT10 KRT1
36 scabies 31.0 FLG DST COL17A1
37 ichthyosis 30.9 KRT5 KRT10 KRT1 FLG COL7A1
38 skin disease 30.9 PLEC LAMC2 LAMB3 LAMA3 KRT5 KRT14
39 palmoplantar keratosis 30.8 PKP1 KRT5 KRT10 KRT1 DSP
40 pemphigoid gestationis 30.8 DST COL17A1
41 neurotic excoriation 30.7 DST COL7A1 COL17A1
42 keratosis 30.6 KRT5 KRT14 KRT10 KRT1 FLG DST
43 lichen planus 30.6 LAMC2 KRT10 KRT1 FLG DST COL17A1
44 autosomal recessive congenital ichthyosis 30.6 KRT14 KRT10 KRT1 FLG
45 epidermolytic hyperkeratosis 30.5 PLEC KRT5 KRT14 KRT10 KRT1 FLG
46 ocular cicatricial pemphigoid 30.5 ITGB4 ITGA6
47 familial woolly hair syndrome 30.5 PLEC PKP1 DSP
48 epithelial-myoepithelial carcinoma 30.5 KRT5 KRT14
49 striate palmoplantar keratoderma 30.4 KRT1 DSP
50 keratoacanthoma 30.4 KRT14 KRT10 FLG

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



Diseases related to Epidermolysis Bullosa
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Symptoms & Phenotypes for Epidermolysis Bullosa

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MGI Mouse Phenotypes related to Epidermolysis Bullosa:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.36 CD151 COL17A1 COL7A1 DSP DST ITGA3
2 immune system MP:0005387 10.16 CD151 COL17A1 COL7A1 DSP DST EXPH5
3 digestive/alimentary MP:0005381 10.14 COL7A1 DSP DST ITGA3 ITGA6 ITGB4
4 craniofacial MP:0005382 10.11 COL7A1 DSP DST ITGA6 ITGB4 KRT10
5 renal/urinary system MP:0005367 10.1 CD151 COL17A1 DST ITGA3 ITGA6 ITGB4
6 cellular MP:0005384 10.1 CD151 COL17A1 DSP DST EXPH5 ITGA3
7 limbs/digits/tail MP:0005371 10.02 COL7A1 DST ITGA3 ITGA6 KRT10 KRT5
8 hearing/vestibular/ear MP:0005377 9.93 CD151 ITGA6 ITGB4 KRT10 KRT14 LAMC2
9 mortality/aging MP:0010768 9.89 CD151 COL17A1 COL7A1 DSP DST ITGA3
10 respiratory system MP:0005388 9.76 EXPH5 ITGA3 ITGA6 ITGB4 KRT14 LAMA3
11 integument MP:0010771 9.55 CD151 COL17A1 COL7A1 DSP DST ITGA3
Sources

Drugs & Therapeutics for Epidermolysis Bullosa

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

(show top 50) (show all 134)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Morphine Approved, Investigational Phase 4 57-27-2 5288826
2
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 4 67-97-0, 1406-16-2 5280795 10883523
3 Analgesics Phase 4
4 Analgesics, Opioid Phase 4
5 Narcotics Phase 4
6 Vitamins Phase 4
7 Trace Elements Phase 4
8 Calciferol Phase 4
9 Micronutrients Phase 4
10
Erythromycin Approved, Investigational, Vet_approved Phase 3 114-07-8 12560
11
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
12
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
13
Prilocaine Approved Phase 2, Phase 3 721-50-6 4906
14
Hydroxyzine Approved Phase 2, Phase 3 68-88-2 3658
15
Oxycodone Approved, Illicit, Investigational Phase 2, Phase 3 76-42-6 5284603
16
Pregabalin Approved, Investigational Phase 3 148553-50-8 5486971
17
Allantoin Approved Phase 3 97-59-6 204
18
Coal tar Approved Phase 3 8007-45-2
19 Gastrointestinal Agents Phase 3
20 Erythromycin stearate Phase 3
21 Erythromycin Ethylsuccinate Phase 3
22 Erythromycin Estolate Phase 3
23 Sunflower Phase 3
24 Anesthetics Phase 2, Phase 3
25
abobotulinumtoxinA Phase 2, Phase 3
26 Botulinum Toxins, Type A Phase 2, Phase 3
27 Cholinergic Agents Phase 2, Phase 3
28 Anti-Infective Agents, Local Phase 2, Phase 3
29 Hormones Phase 3
30 Anti-Anxiety Agents Phase 3
31 Psychotropic Drugs Phase 3
32 Calcium, Dietary Phase 3
33 calcium channel blockers Phase 3
34
Calcium Nutraceutical Phase 3 7440-70-2 271
35
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
36
Methoxsalen Approved Phase 2 298-81-7 4114
37
Lenograstim Approved, Investigational Phase 2 135968-09-1
38
Levoleucovorin Approved, Experimental, Investigational Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
39
Trimethoprim Approved, Vet_approved Phase 2 738-70-5 5578
40
Busulfan Approved, Investigational Phase 2 55-98-1 2478
41
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643
42
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
43
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
44
Prednisolone Approved, Vet_approved Phase 2 50-24-8 4894 5755
45
Coenzyme M Approved, Investigational Phase 2 3375-50-6 598 23662354
46
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5 1875
47
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 4159 6741
48
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
49
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
50
Fludarabine Approved Phase 1, Phase 2 75607-67-9, 21679-14-1 30751 657237

Interventional clinical trials:

(show top 50) (show all 115)
# Name Status NCT ID Phase Drugs
1 Randomised Double Blind Placebo Controlled Cross Over Design of the Efficacy of Topical Morphine for Inflammatory Pain in Children With Epidermolysis Bullosa Completed NCT00231517 Phase 4 topical opiod;morphine sulphate in intrasite gel
2 Vitamin D Status and Bone Metabolism Status in Children With Congenital Epidermolysis Bullosa Recruiting NCT05141838 Phase 4 Vitamin D
3 A Prospective Single Center Within Subject Controlled Observational Study to Evaluate Apligraf(R) in Nonhealing Wounds of Subjects With Epidermolysis Bullosa Terminated NCT01619670 Phase 4
4 Randomised Double Blind Crossover Placebo Controlled Study to Evaluate the Efficacy of Tetracycline in Epidermolysis Bullosa Withdrawn NCT00336154 Phase 4 tetracyclin
5 A Comparative Study of the Healing of Chronic Skin Ulcers of Recessive Dystrophic Epidermolysis Bullosa : Standard Dressing Versus Amniotic Membrane. Unknown status NCT02286427 Phase 3
6 Treatment of Dowling Maera Type of Epidermolysis Bullosa Simplex by Oral Erythromycin Unknown status NCT01340235 Phase 3 Oral erythromycin
7 A Phase III Double Blinded, Placebo-Controlled, Efficacy and Safety Study of Beremagene Geperpavec (B-VEC, Previously "KB103") for the Treatment of Dystrophic Epidermolysis Bullosa (DEB) Completed NCT04491604 Phase 3
8 VIITAL: A Phase 3 Study of EB-101 for the Treatment of Recessive Dystrophic Epidermolysis Bullosa (RDEB) Completed NCT04227106 Phase 3
9 Double Blind, Randomised, Vehicle Controlled, Phase III, Efficacy and Safety Study With 24-month Open-label Follow up of Oleogel-S10 in Patients With Inherited Epidermolysis Bullosa Completed NCT03068780 Phase 3 Oleogel-S10;Control gel
10 A Phase 3, Multi-center, Randomized, Double-Blind, Placebo Controlled Study of the Efficacy and Safety of SD-101 Cream in Patients With Epidermolysis Bullosa Completed NCT02384460 Phase 3 SD-101-6.0 cream;Placebo (SD-101-0.0) cream
11 Open Label Treatment of Beremagene Geperpavec (B-VEC) Recruiting NCT04917874 Phase 3
12 Multicentre, Open-label, Uncontrolled, Pivotal Clinical Trial to Confirm the Efficacy and Safety of Autologous Fibrin-cultured Epidermal Grafts Containing Epidermal Stem Cells Genetically Modified for Restoration of Epidermis in Patients With Junctional Epidermolysis Bullosa Recruiting NCT05111600 Phase 2, Phase 3 Transplantation
13 Evaluation of the Efficacy of Injections of Botulinic Toxin in Plantar Lesions of Patients Suffering From Localized Epidermolysis Bullosa Simplex : Double Blind Randomized Controlled Study. Recruiting NCT03453632 Phase 2, Phase 3 Botulinic toxin;Placebo
14 A Pivotal Phase 3 Study of FCX-007 (Genetically-Modified Autologous Human Dermal Fibroblasts) for Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT04213261 Phase 3
15 A Double-blind, Randomized, Cross-over, Feasibility Trial of Pregabalin for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-associated Neuropathic Pain and Itch Active, not recruiting NCT03928093 Phase 3 Pregabalin
16 A Double-blind, Randomized, Placebo-controlled, Interventional, Multicenter, Phase III Clinical Trial to Investigate the Safety and Efficacy of ABCB5-positive Mesenchymal Stromal Cells (ABCB5+ MSCs) on Epidermolysis Bullosa (EB) Not yet recruiting NCT05464381 Phase 3 allo-APZ2-OTS;Placebo
17 A Prospective, Multicenter, Within Subject Controlled Study to Evaluate the Effect of Apligraf in Nonhealing Wounds of Subjects With Junctional or Dystrophic Epidermolysis Bullosa Terminated NCT00587223 Phase 3
18 An Open Label Multi-Center Extension Study to Evaluate the Long-term Safety of Zorblisaâ„¢ (SD-101-6.0) in Patients With Epidermolysis Bullosa Terminated NCT02670330 Phase 3 SD-101-6.0 cream
19 A Multicenter, Prospective, Randomized, Open-label, Intra-subject Controlled Study of the Efficacy and Safety of ABH001 for the Treatment of Stalled Chronic Cutaneous Wounds Associated With Generalized Epidermolysis Bullosa Terminated NCT01749306 Phase 3
20 The Efficacy and Safety of 3% Cannabidiol (CBD) Cream in Patients With Epidermolysis Bullosa: A Phase II/III Trial Withdrawn NCT04613102 Phase 2, Phase 3 AVCN583601 (3% Cannabidiol cream)
21 A Prospective, Double-Blind, Cross-Over, Pilot Study to Assess Safety and Efficacy of Topical Sirolimus 2% in the Treatment of Plantar Blistering in Patients With Epidermolysis Bullous Simplex (EBS) Unknown status NCT03016715 Phase 2 Sirolimus 2%;Vehicle
22 Safety Study and Preliminary Efficacy of Infusion Haploidentical Mesenchymal Stem Cells Derived From Bone Marrow for Treating Recessive Dystrophic Epidermolysis Bullosa Unknown status NCT04153630 Phase 1, Phase 2
23 A Phase 1/2 Clinical Study to Evaluate the Safety of ALLO-ASC-DFU in the Subjects With Dystrophic Epidermolysis Bullosa Unknown status NCT02579369 Phase 1, Phase 2
24 Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita - a Double-blind Placebo-controlled Phase II Proof of Concept Study Unknown status NCT00936533 Phase 2 Dysport® (Botulinumtoxin A (Btx A));Placebo
25 A Phase I/II Study Evaluating Allogeneic Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis Bullosa Unknown status NCT02323789 Phase 1, Phase 2 Mesenchymal stromal cells
26 Diacerin for the Treatment of Epidermolysis Bullosa Simplex Unknown status NCT02470689 Phase 2 Diacerin cream
27 A Prospective, Double-Blind, Cross-Over, Pilot Study to Assess Safety and Efficacy of Topical Sirolimus 2% in the Treatment of Plantar Blistering in Patients With Epidermolysis Bullous Simplex (EBS) Completed NCT02960997 Phase 2 Sirolimus, 2%;Vehicle
28 An International, Multicenter, Open-label, Long Term Extension Study Evaluating the Safety of Diacerein 1% Ointment Topical Formulation in Subjects With Epidermolysis Bullosa Simplex (EBS) Completed NCT03389308 Phase 2 diacerein 1% ointment
29 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa Patients With Nonsense Mutations Completed NCT03012191 Phase 1, Phase 2 Gentamicin Sulfate
30 A Phase 2 Open-Label Study of PTR-01 in Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Completed NCT04599881 Phase 2 PTR-01
31 A Phase 1/2 Randomized, Saline-Controlled, Single-Blind, Multiple Ascending Dose, Dose-Escalation, Multi-Center Trial of PTR-01 in Adult Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Completed NCT03752905 Phase 1, Phase 2 PTR-01;Normal saline
32 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients Completed NCT02698735 Phase 1, Phase 2 Gentamicin;Placebo
33 A Phase 2b Open-Label Study of PTR-01 in Recessive Dystrophic Epidermolysis Bullosa (RDEB) Patients Previously Treated With PTR-01 in Study PTR-01-002 Completed NCT05143190 Phase 2 PTR-01
34 An Interventional, Multicenter, Single Arm, Phase I/IIa Clinical Trial to Investigate the Efficacy and Safety of Allo-APZ2-EB on Epidermolysis Bullosa (EB) Completed NCT03529877 Phase 1, Phase 2
35 Phase II Pilot Study of Extracorporeal Phototherapy for Epidermolysis Bullosa Acquisita Completed NCT00004359 Phase 2 methoxsalen
36 Treatment of Epidermolysis Bullosa Dystrophica by Polyphenon E (Epigallocatechin 3 Gallate) Completed NCT00951964 Phase 2 Polyphenon E before Placebo;placebo before treatment
37 Single Center, Single Group Assignment, Open Label Trial to Assess Safety and Effectiveness of Intravenous Allogeneic Umbilical Cord Blood-derived Mesenchymal Stem Cell in Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT04520022 Phase 1, Phase 2 Human Umbilical Cord Blood-derived Mesenchymal Stem Cells
38 Efficacy of Granulocyte Colony Stimulating Factor (GCSF) In Patients With Dystrophic Epidermolysis Bullosa Completed NCT01538862 Phase 2 Granulocyte Colony Stimulating Factor (GCSF)
39 The Efficacy of Trimethoprim in Wound Healing of Patients With Epidermolysis Bullosa: A Randomized, Double Blinded, Placebo Controlled, Cross-over Pilot Study Completed NCT00380640 Phase 2 Trimethoprim
40 A Phase 2b, Multi-Center, Randomized, Double-Blind, Vehicle-Controlled Study of the Effectiveness and Safety of SD-101 Cream in Subjects With Epidermolysis Bullosa Completed NCT02014376 Phase 2 SD-101 dermal cream (3%);SD-101 Dermal Cream (6%);Vehicle (SD-101 0%)
41 TOPICAL GENTAMICIN TREATMENT OF PATIENTS WITH EPIDERMOLYSIS BULLOSA DUE TO NONSENSE MUTATIONS Completed NCT04644627 Phase 1, Phase 2 Gentamicin Sulfate
42 Open-label, Pilot Study to Investigate the Safety and Tolerability of Alwextin 3.0% Cream in the Treatment of Epidermolysis Bullosa Completed NCT00825565 Phase 2 Alwextin cream
43 A Phase 2 Trial of Neurokinin-1 Receptor Antagonist for the Treatment of Itch in Epidermolysis Bullosa Patients Completed NCT02654483 Phase 2 VPD-737
44 A Comparative Open-Label Multicentre Clinical Trial To Assess The Efficacy And Safety Of A New Therapy With Cultured Chimeric Skin For The Treatment Of Skin Lesions In Patients With Epidermolysis Bullosa Completed NCT00987142 Phase 2 CX501
45 Open, Prospective, Controlled Case Series Documentation to Compare Intra-individually the Efficacy and Tolerance of Sericare® Versus Non-adhesive Wound Dressing Alone in Accelerating the Epithelialization of Skin Lesions of Patients With Epidermolysis Bullosa Hereditaria Completed NCT01294241 Phase 2 Oleogel-S10
46 A Double-blind, Intra-individual Comparison, Proof-of-concept Trial of Topical AC-203 in Patients With Inherited Epidermolysis Bullosa Completed NCT03468322 Phase 2 AC-203;Vehicle
47 A Randomised, Double-Blind, Vehicle-Controlled Phase 2 Study of Topically Applied INM-755 (Cannabinol) Cream in Patients With Epidermolysis Bullosa Recruiting NCT04908215 Phase 2 INM-755 (cannabinol) cream;Vehicle Cream
48 Optimization of Intravenous Gentamicin Treatment to Restore Functional Laminin 332 in JEB Patients With Nonsense Mutations Recruiting NCT04140786 Phase 1, Phase 2 Gentamicin Sulfate, Injectable
49 A Phase II, Open Study to Assess Efficacy and Safety of Rigosertib in Patients With Recessive Dystrophic Epidermolysis Bullosa Associated Locally Advanced/Metastatic Squamous Cell Carcinoma Recruiting NCT03786237 Phase 1, Phase 2 Rigosertib Oral Capsules / Rigosertib Intravenous
50 Restoration of Full-Length Type VII Collagen in RDEB Patients With Nonsense Mutations After Intravenous Gentamicin Treatment Recruiting NCT03392909 Phase 1, Phase 2 Gentamicin

Search NIH Clinical Center for Epidermolysis Bullosa

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Phenytoin
Phenytoin sodium
PHENYTOIN SODIUM,EXTENDED
PHENYTOIN SODIUM,PROMPT

Cochrane evidence based reviews: epidermolysis bullosa

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Genetic Tests for Epidermolysis Bullosa

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Genetic tests related to Epidermolysis Bullosa:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa 28
Sources

Anatomical Context for Epidermolysis Bullosa

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Organs/tissues related to Epidermolysis Bullosa:

MalaCards : Skin, Bone Marrow, Bone, Neutrophil, Endothelial, Kidney, T Cells
Sources

Publications for Epidermolysis Bullosa

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Articles related to Epidermolysis Bullosa:

(show top 50) (show all 5855)
# Title Authors PMID Year
1
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex. 53 62
20052759 2010
2
Lethal acantholytic epidermolysis bullosa. 53 62
19945626 2010
3
Epidermolysis bullosa nevus arising in a patient with Dowling-Meara type epidermolysis bullosa simplex with a novel K5 mutation. 53 62
19691749 2009
4
Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells. 53 62
18955559 2009
5
[What's new in pediatric dermatology?]. 53 62
19264210 2008
6
Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14. 53 62
18713255 2008
7
Human bullous pemphigoid antigen 2 transgenic skin elicits specific IgG in wild-type mice. 53 62
17657247 2007
8
Possible involvement of exon 31 alternative splicing in phenotype and severity of epidermolysis bullosa caused by mutations in PLEC1. 53 62
17273164 2007
9
Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. 53 62
17476356 2007
10
Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa. 53 62
16252234 2005
11
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. 53 62
16175511 2005
12
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. 53 62
15654962 2005
13
Single amino acid substitutions in procollagen VII affect early stages of assembly of anchoring fibrils. 53 62
15509587 2005
14
Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation. 53 62
15206692 2004
15
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta4 gene (ITGB4). 53 62
15009117 2004
16
Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin. 53 62
14675180 2003
17
Two different mutations in the cytoplasmic domain of the integrin beta 4 subunit in nonlethal forms of epidermolysis bullosa prevent interaction of beta 4 with plectin. 53 62
11886501 2001
18
Gene correction of integrin beta4-dependent pyloric atresia-junctional epidermolysis bullosa keratinocytes establishes a role for beta4 tyrosines 1422 and 1440 in hemidesmosome assembly. 53 62
11522777 2001
19
Reduced expression of the epithelial adhesion ligand laminin 5 in the skin causes intradermal tissue separation. 53 62
11279058 2001
20
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. 53 62
11328943 2001
21
Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa. 53 62
10873890 2000
22
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy. 53 62
10652002 2000
23
Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa. 53 62
10523500 1999
24
Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa. 53 62
10232407 1999
25
Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation? 53 62
10232406 1999
26
Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests. 53 62
9886273 1999
27
Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. 53 62
9856843 1998
28
The 97 kDa linear IgA bullous dermatosis antigen is not expressed in a patient with generalized atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1. 53 62
9804354 1998
29
Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. 53 62
9892956 1998
30
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. 53 62
9792864 1998
31
Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa. 53 62
9740253 1998
32
Essential role of alpha 6 integrins in cortical and retinal lamination. 53 62
9742403 1998
33
Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. 53 62
9546354 1998
34
Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4). 53 62
9422533 1998
35
Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa. 53 62
9254855 1997
36
Absence of detectable alpha 6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome. Application for prenatal diagnosis in a family at risk for recurrence. 53 62
8712842 1996
37
Absence of integrin alpha 6 leads to epidermolysis bullosa and neonatal death in mice. 53 62
8673141 1996
38
DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence. 53 62
7706758 1995
39
[The human genome--chromosome 3]. 53 62
7712532 1995
40
Altered expression of a new antigen of the dermal-epidermal junction (NU-T2 DEJ Ag) in junctional epidermolysis bullosa. 53 62
8554379 1995
41
Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3). 53 62
7550237 1995
42
Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa. 53 62
7774918 1995
43
Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes. 53 62
7963683 1994
44
Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms. 53 62
8051117 1994
45
Antigenic expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa. 53 62
8063286 1994
46
Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. 53 62
8012393 1994
47
Epidermolysis bullosa: hereditary skin fragility diseases as paradigms in cell biology. 53 62
7537032 1994
48
cDNA cloning and chromosomal mapping of the mouse type VII collagen gene (Col7a1): evidence for rapid evolutionary divergence of the gene. 53 62
8325648 1993
49
Epidermolysis bullosa simplex Dowling-Meara: troublesome blistering and pruritus in an adult patient. 53 62
8435522 1993
50
Bullous pemphigoid antigen: cDNA cloning, cellular expression, and evidence for polymorphism of the human gene. 53 62
2045679 1991
Sources

Variations for Epidermolysis Bullosa

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ClinVar genetic disease variations for Epidermolysis Bullosa:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT5 NM_000424.4(KRT5):c.596A>T (p.Lys199Met) SNV Pathogenic
 66281 rs58766676 GRCh37: 12:52912904-52912904
GRCh38: 12:52519120-52519120
Sources

Expression for Epidermolysis Bullosa

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

Pathways for Epidermolysis Bullosa

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Pathways related to Epidermolysis Bullosa according to GeneCards Suite gene sharing:

(show all 29)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.74 COL17A1 COL7A1 DSP ITGA3 ITGA6 ITGB4
2
Integrin Pathway 64
Show member pathways
 13.31 LAMC2 LAMB3 LAMA3 ITGB4 ITGA6 ITGA3
3
Phospholipase-C Pathway 64
Show member pathways
 13.02 LAMC2 LAMB3 LAMA3 ITGB4 ITGA6 ITGA3
4
PI3K-Akt signaling pathway 74
Show member pathways
 12.86 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
5
Beta-Adrenergic Signaling 64
Show member pathways
 12.79 LAMC2 LAMB3 LAMA3 ITGB4 ITGA6 ITGA3
6
Collagen chain trimerization 66
Show member pathways
 12.66 PLEC LAMC2 LAMB3 LAMA3 ITGB4 ITGA6
7
Malignant pleural mesothelioma 74
12.63 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
8
Keratinization 66
Show member pathways
 12.51 PKP1 KRT5 KRT14 KRT10 KRT1 FLG
9
Cytoskeletal Signaling 3
12.42 PLEC KRT5 KRT10 CD151
10
COPI-independent Golgi-to-ER retrograde traffic 66
Show member pathways
 12.4 PLEC PKP1 KRT5 KRT14 KRT1 DST
11
MET promotes cell motility 66
Show member pathways
 12.38 COL7A1 ITGA3 ITGA6 LAMA3 LAMB3 LAMC2
12
Extracellular matrix organization 66
Show member pathways
 12.34 CD151 COL17A1 COL7A1 DST ITGA3 ITGA6
13
Focal adhesion 74
12.23 LAMC2 LAMB3 LAMA3 ITGB4 ITGA6 ITGA3
14
ECM proteoglycans 66
Show member pathways
 12.12 LAMA3 ITGA6 ITGA3 COL7A1
15
Non-integrin membrane-ECM interactions 66
Show member pathways
 12.09 COL7A1 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3
16
Blood-Brain Barrier and Immune Cell Transmigration: Overview 65
Show member pathways
 12.01 LAMA3 ITGB4 ITGA6 ITGA3
17
Adhesion 3
12 PLEC ITGB4 ITGA6 DSP CD151
18
Cell junction organization 66
Show member pathways
 11.98 PLEC LAMC2 LAMB3 LAMA3 KRT5 KRT14
19
Integrin family cell surface interactions 61
Show member pathways
 11.94 ITGB4 ITGA6 ITGA3
20
Apoptotic cleavage of cellular proteins 66
Show member pathways
 11.91 PLEC PKP1 DSP
21
Small cell lung cancer 74
11.86 LAMC2 LAMB3 LAMA3 ITGA6 ITGA3
22
Primary focal segmental glomerulosclerosis (FSGS) 74
11.66 ITGB4 ITGA3 CD151
23
Cell adhesion_ECM remodeling 22
11.57 LAMC2 LAMB3 LAMA3
24
Validated transcriptional targets of TAp63 isoforms 61
11.51 ITGB4 ITGA3 DST
25
Nephrotic syndrome 74
11.46 ITGB4 ITGA3 CD151
26
Validated transcriptional targets of deltaNp63 isoforms 61
11.43 KRT5 KRT14 ITGA3
27
a6b1 and a6b4 Integrin signaling 61
11.2 LAMC2 LAMB3 LAMA3 ITGB4 ITGA6 COL17A1
29
G-protein signaling_Rap2B regulation pathway 22
10.91 LAMC2 LAMB3 LAMA3 ITGB4 ITGA6 ITGA3
Sources

GO Terms for Epidermolysis Bullosa

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 10.29 PLEC ITGB4 ITGA6 ITGA3 DST CD151
2 collagen-containing extracellular matrix GO:0062023 10.21 COL17A1 COL7A1 FLG KRT1 LAMA3 LAMB3
3 adherens junction GO:0005912 10.13 PKP1 LAMA3 KLHL24 DSP
4 keratin filament GO:0045095 10.1 KRT5 KRT14 KRT10 KRT1
5 cornified envelope GO:0001533 10.03 PKP1 KRT14 KRT10 KRT1 FLG DSP
6 intermediate filament GO:0005882 10.03 DSP DST KRT1 KRT10 KRT14 KRT5
7 anchoring junction GO:0070161 9.92 PLEC PKP1 KLHL24 ITGB4 ITGA3 DST
8 integrin complex GO:0008305 9.91 ITGB4 ITGA6 ITGA3
9 desmosome GO:0030057 9.88 PKP1 KLHL24 DSP
10 cellular anatomical entity GO:0110165 9.85 PLEC LAMB3 LAMA3 DST DSP
11 laminin-5 complex GO:0005610 9.78 LAMA3 LAMB3
12 hemidesmosome GO:0030056 9.65 PLEC LAMA3 ITGB4 DST COL17A1
13 basement membrane GO:0005604 9.5 LAMC2 LAMB3 LAMA3 ITGB4 DST COL7A1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell-cell adhesion GO:0098609 10.16 PKP1 LAMA3 ITGA6 ITGA3 DSP
2 cell adhesion GO:0007155 10.16 CD151 COL7A1 DST ITGA3 ITGA6 ITGB4
3 cell-matrix adhesion GO:0007160 10.11 COL17A1 ITGA3 ITGA6 ITGB4
4 integrin-mediated signaling pathway GO:0007229 10.1 DST ITGA3 ITGA6 ITGB4 LAMA3
5 cell adhesion mediated by integrin GO:0033627 10.02 ITGB4 ITGA6 ITGA3
6 tissue development GO:0009888 10.01 LAMC2 LAMB3 LAMA3
7 endodermal cell differentiation GO:0035987 9.97 LAMB3 LAMA3 COL7A1
8 peptide cross-linking GO:0018149 9.97 KRT10 KRT1 FLG DSP
9 keratinocyte differentiation GO:0030216 9.97 PLEC KRT14 KRT10 FLG DSP
10 skin development GO:0043588 9.96 PLEC ITGA3 DSP
11 establishment of skin barrier GO:0061436 9.95 PLEC KRT1 FLG
12 intermediate filament organization GO:0045109 9.93 DSP KLHL24 KRT1 KRT14 KRT5 PLEC
13 cell motility GO:0048870 9.92 PLEC ITGB4 DST
14 intermediate filament cytoskeleton organization GO:0045104 9.91 PLEC DST DSP
15 keratinocyte development GO:0003334 9.88 PLEC EXPH5
16 nail development GO:0035878 9.88 ITGB4 ITGA6
17 intermediate filament bundle assembly GO:0045110 9.87 PKP1 KRT14
18 hemidesmosome assembly GO:0031581 9.65 PLEC LAMA3 ITGB4 DST COL17A1
19 epidermis development GO:0008544 9.58 LAMC2 LAMB3 LAMA3 KRT5 KRT14 KRT10

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.97 LAMC2 LAMB3 LAMA3 COL17A1
2 integrin binding GO:0005178 9.93 CD151 DST ITGA3 ITGA6 ITGB4 LAMA3
3 structural constituent of cytoskeleton GO:0005200 9.86 PLEC KRT5 KRT14 DSP
4 structural constituent of skin epidermis GO:0030280 9.65 PKP1 KRT5 KRT10 KRT1 FLG
5 neuregulin binding GO:0038132 9.62 ITGB4 ITGA6
6 structural molecule activity GO:0005198 9.44 PLEC LAMB3 LAMA3 KRT14 KRT10 FLG
Sources

Sources for Epidermolysis Bullosa

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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