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EB
MCID: EPD016
MIFTS: 53

Epidermolysis Bullosa (EB)

Categories: Rare diseases, Skin diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Epidermolysis Bullosa

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MalaCards integrated aliases for Epidermolysis Bullosa:

Name: Epidermolysis Bullosa 12 73 20 36 29 54 44 15 39 17 70 32
Acantholysis Bullosa 12
Eb 20

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:2730
KEGG 36 H01737
MeSH 44 D004820
NCIt 50 C67383
SNOMED-CT 67 205580008
ICD10 32 Q81 Q81.9
UMLS 70 C0014527
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Summaries for Epidermolysis Bullosa

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GARD : 20 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 ( mutations ) 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. Management involves a multidisciplinary team of health care providers and involves wound care, pain control, controlling infections, nutritional support, and prevention and treatment of complications.

MalaCards based summary : Epidermolysis Bullosa, also known as acantholysis bullosa, is related to epidermolysis bullosa dystrophica, autosomal recessive and epidermolysis bullosa, junctional, herlitz type. An important gene associated with Epidermolysis Bullosa is PLEC (Plectin), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drugs Morphine and Narcotics have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and bone marrow, and related phenotypes are growth/size/body region and digestive/alimentary

Disease Ontology : 12 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.

KEGG : 36 Inherited epidermolysis bullosa (EB) is a diverse group of disorders that encompass dozens of clinically and genotypically distinct diseases. It is characterized by mechanically fragile skin that readily blister. Most of the more severe subtypes are associated with clinically significant extracutaneous complications. Some subtypes may lead to death, even in early infancy. There are four major types of EB: EB simplex, junctional EB, dystrophic EB, and Kindler syndrome.

Wikipedia : 73 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 559)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa dystrophica, autosomal recessive 33.5 MMP1 COL7A1
2 epidermolysis bullosa, junctional, herlitz type 33.4 LAMC2 LAMB3 LAMA3 COL7A1 COL17A1
3 epidermolysis bullosa simplex, localized 33.3 PLEC KRT5 KRT14 ITGB4 GALK1
4 epidermolysis bullosa simplex with muscular dystrophy 33.3 PLEC LAMA3 DST COL17A1
5 epidermolysis bullosa simplex, autosomal recessive 1 33.3 KRT5 KRT14
6 epidermolysis bullosa simplex with pyloric atresia 33.3 PLEC ITGB4
7 epidermolysis bullosa simplex, dowling-meara type 33.2 PLEC PKP1 KRT5 KRT14 DSP COL7A1
8 epidermolysis bullosa simplex, generalized 33.2 PLEC LAMC2 KRT5 KRT14 KLHL24 COL17A1
9 epidermolysis bullosa pruriginosa 33.2 MMP1 FLG COL7A1
10 epidermolysis bullosa acquisita 33.1 LAMC2 LAMA3 ITGB4 DST COL7A1 COL17A1
11 recessive dystrophic epidermolysis bullosa 33.1 MMP1 LAMB3 FLG COL7A1 COL17A1
12 epidermolysis bullosa with pyloric atresia 33.1 PLEC ITGB4 ITGA6 GALK1
13 inherited epidermolysis bullosa 33.1 LAMA3 COL7A1
14 epidermolysis bullosa simplex with mottled pigmentation 33.0 PLEC PKP1 KRT5 KRT14 EXPH5 DSP
15 ectodermal dysplasia/skin fragility syndrome 33.0 PKP1 DSP
16 epidermolysis bullosa, junctional, non-herlitz type 32.6 PLEC LAMC2 LAMB3 LAMA3 KRT14 ITGB4
17 epidermolysis bullosa junctionalis with pyloric atresia 32.6 PLEC LAMC2 LAMB3 LAMA3 KRT14 ITGB4
18 pemphigoid 32.5 ITGB4 ITGA6 DST COL17A1
19 epidermolysis bullosa dystrophica 32.5 PLEC MMP1 LAMC2 LAMB3 LAMA3 KRT5
20 nail disorder, nonsyndromic congenital, 8 32.3 LAMB3 LAMA3 COL7A1
21 epidermolysis bullosa simplex 32.0 PLEC PKP1 LAMA3 KRT5 KRT14 KLHL24
22 kindler syndrome 31.9 PLEC LAMB3 ITGB4 ITGA6 DST COL7A1
23 junctional epidermolysis bullosa 31.9 PLEC LAMC2 LAMB3 LAMA3 KRT5 KRT14
24 pyloric atresia 31.6 PLEC LAMC2 ITGB4 ITGA6 GALK1 COL17A1
25 aplasia cutis congenita, nonsyndromic 31.6 PLEC ITGB4
26 keratosis 31.3 KRT5 KRT14 FLG DSP
27 pemphigus 31.3 PKP1 DST DSP COL17A1
28 pemphigus vulgaris, familial 31.3 DST DSP COL17A1
29 cicatricial pemphigoid 31.2 LAMC2 LAMA3 ITGB4 ITGA6 DST COL17A1
30 palmoplantar keratosis 31.1 PKP1 KRT5 DSP
31 linear iga disease 31.1 ITGB4 DST COL17A1
32 bullous pemphigoid 31.0 PLEC LAMC2 LAMB3 LAMA3 KRT5 KRT14
33 lichen planus 30.9 LAMC2 FLG DST COL17A1
34 pemphigoid gestationis 30.7 DST COL17A1
35 bullous skin disease 30.7 PLEC PKP1 LAMA3 DST DSP COL17A1
36 epidermolytic hyperkeratosis 30.7 PLEC KRT5 KRT14 FLG DSP COL7A1
37 familial woolly hair syndrome 30.6 PLEC PKP1 DSP
38 nail disorder, nonsyndromic congenital, 9 30.5 COL7A1 COL17A1
39 basal cell carcinoma 30.5 MMP1 LAMC2 KRT5 KRT14 DST COL17A1
40 striate palmoplantar keratoderma 30.5 KRT14 DSP
41 maternal uniparental disomy of chromosome 1 30.4 LAMC2 LAMB3 LAMA3
42 maternal uniparental disomy 30.4 LAMC2 LAMB3 LAMA3
43 uniparental disomy of chromosome 1 30.4 LAMC2 LAMB3 LAMA3
44 urethral stricture 30.4 PLEC KLHL24
45 paraneoplastic pemphigus 30.4 DST DSP COL17A1
46 arrhythmogenic right ventricular cardiomyopathy 30.2 PLEC ITGB4 ITGA6 DSP
47 ocular cicatricial pemphigoid 30.2 ITGB4 ITGA6
48 pachyonychia congenita 1 30.1 PLEC KRT5 KRT14 FLG DSP
49 skin disease 30.0 PLEC MMP1 LAMC2 LAMB3 LAMA3 KRT5
50 epidermolysis bullosa dystrophica, autosomal dominant 12.1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.13 CD151 COL7A1 DSP ITGA3 ITGA6 ITGB4
2 digestive/alimentary MP:0005381 10.07 COL7A1 DSP ITGA3 ITGA6 ITGB4 KRT14
3 craniofacial MP:0005382 10.06 COL7A1 DSP ITGA6 ITGB4 KRT14 KRT5
4 immune system MP:0005387 10.03 CD151 COL7A1 DSP ITGA3 ITGA6 ITGB4
5 integument MP:0010771 9.97 CD151 COL7A1 DSP ITGA3 ITGA6 ITGB4
6 mortality/aging MP:0010768 9.77 CD151 COL7A1 DSP ITGA3 ITGA6 ITGB4
7 respiratory system MP:0005388 9.17 ITGA3 ITGA6 ITGB4 KRT14 LAMA3 LAMB3
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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 111)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Morphine Approved, Investigational Phase 4 57-27-2 5288826
2 Narcotics Phase 4
3 Analgesics, Opioid Phase 4
4
Erythromycin Approved, Investigational, Vet_approved Phase 3 114-07-8 12560
5
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
6
Hydroxyzine Approved Phase 2, Phase 3 68-88-2 3658
7
Oxycodone Approved, Illicit, Investigational Phase 2, Phase 3 76-42-6 5284603
8
Prilocaine Approved Phase 2, Phase 3 721-50-6 4906
9
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
10
Pregabalin Approved, Investigational Phase 3 148553-50-8 5486971
11
Allantoin Approved Phase 3 97-59-6 204
12
Coal tar Approved Phase 3 8007-45-2
13 Gastrointestinal Agents Phase 3
14 Erythromycin stearate Phase 3
15 Erythromycin Estolate Phase 3
16 Erythromycin Ethylsuccinate Phase 3
17 abobotulinumtoxinA Phase 2, Phase 3
18 Neurotransmitter Agents Phase 2, Phase 3
19 Cholinergic Agents Phase 2, Phase 3
20 Botulinum Toxins, Type A Phase 2, Phase 3
21 Anti-Infective Agents, Local Phase 2, Phase 3
22 Analgesics Phase 3
23 Psychotropic Drugs Phase 3
24 Hormones Phase 3
25 calcium channel blockers Phase 3
26 Anti-Anxiety Agents Phase 3
27 Calcium, Dietary Phase 3
28 Sunflower Phase 3
29
Calcium Nutraceutical Phase 3 7440-70-2 271
30
Methoxsalen Approved Phase 2 298-81-7 4114
31
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
32
Lenograstim Approved, Investigational Phase 2 135968-09-1
33
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
34
Trimethoprim Approved, Vet_approved Phase 2 738-70-5 5578
35
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
36
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
37
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
38
Busulfan Approved, Investigational Phase 2 55-98-1 2478
39
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
40
tannic acid Approved Phase 2 1401-55-4
41
Mycophenolic acid Approved Phase 2 24280-93-1 446541
42
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
43
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
44
Mesna Approved, Investigational Phase 2 3375-50-6 598
45
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
46
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
47
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
48
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
49
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
50
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189

Interventional clinical trials:

(show top 50) (show all 99)
# 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 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
3 Randomised Double Blind Crossover Placebo Controlled Study to Evaluate the Efficacy of Tetracycline in Epidermolysis Bullosa Withdrawn NCT00336154 Phase 4 tetracyclin
4 Treatment of Dowling Maera Type of Epidermolysis Bullosa Simplex by Oral Erythromycin Unknown status NCT01340235 Phase 3 Oral erythromycin
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 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
7 VIITAL: A Phase 3 Study of EB-101 for the Treatment of Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT04227106 Phase 3
8 A Pivotal Phase 3 Study of FCX-007 (Genetically-Modified Autologous Human Dermal Fibroblasts) for Recessive Dystrophic Epidermolysis Bullosa Recruiting NCT04213261 Phase 3
9 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
10 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) Recruiting NCT04491604 Phase 3
11 A Double-blind, Randomized, Cross-over, Feasibility Trial of Pregabalin for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-associated Neuropathic Pain and Itch Recruiting NCT03928093 Phase 3 Pregabalin
12 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 Active, not recruiting NCT03068780 Phase 3 Oleogel-S10;Placebo
13 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
14 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
15 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
16 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)
17 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
18 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
19 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
20 Diacerin for the Treatment of Epidermolysis Bullosa Simplex Unknown status NCT02470689 Phase 2 Diacerin cream
21 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
22 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
23 Phase II Pilot Study of Extracorporeal Phototherapy for Epidermolysis Bullosa Acquisita Completed NCT00004359 Phase 2 methoxsalen
24 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
25 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients Completed NCT02698735 Phase 1, Phase 2 Gentamicin;Placebo
26 Treatment of Epidermolysis Bullosa Dystrophica by Polyphenon E (Epigallocatechin 3 Gallate) Completed NCT00951964 Phase 2 Polyphenon E before Placebo;placebo before treatment
27 Efficacy of Granulocyte Colony Stimulating Factor (GCSF) In Patients With Dystrophic Epidermolysis Bullosa Completed NCT01538862 Phase 2 Granulocyte Colony Stimulating Factor (GCSF)
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 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
31 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
32 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
33 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
34 A Phase 2 Trial of Neurokinin-1 Receptor Antagonist for the Treatment of Itch in Epidermolysis Bullosa Patients Completed NCT02654483 Phase 2 VPD-737
35 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
36 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%)
37 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;Trimethoprim
38 A Randomized,Single-Blind, Placebo-controlled, Self-matched Pairing, Independent Evaluated Study to Evaluate the Efficacy and Safety of RGN-137 Topical Gel in Subjects With Junctional and Dystrophic Epidermolysis Bullosa (CELEB) Recruiting NCT03578029 Phase 2 RGN-137;Placebo
39 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
40 A Pilot Study of the Restoration of Functional Laminin 332 in JEB Patients With Nonsense Mutations After Topical and Intravenous Gentamicin Treatment Recruiting NCT03526159 Phase 1, Phase 2 Gentamicin Sulfate
41 Restoration of Full-Length Type VII Collagen in RDEB Patients With Nonsense Mutations After Intravenous Gentamicin Treatment Recruiting NCT03392909 Phase 1, Phase 2 Gentamicin
42 A First in Human, Double-blind, Randomized, Intra-subject Placebo-controlled, Multiple Dose Study of QR-313 Evaluating Safety, Proof of Mechanism, Preliminary Efficacy and Systemic Exposure in Subjects With DDEB or RDEB Due to Mutation(s) in Exon 73 of the COL7A1 Gene Recruiting NCT03605069 Phase 1, Phase 2 QR-313;Placebo
43 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
44 MT2009-09: Biochemical Correction of Severe Epidermolysis Bullosa by Allogeneic Stem Cell Transplantation and "Off-the-shelf" Mesenchymal Stem Cells Recruiting NCT01033552 Phase 2 Cyclophosphamide;Fludarabine;Anti-thymocyte globulin;Cyclosporine A;Mycophenolate mofetil
45 A Neurokinin-1 Receptor Antagonist for the Treatment of Pruritus in Patients With Epidermolysis Bullosa Recruiting NCT03836001 Phase 2 Serlopitant Tablet;Placebo Oral Tablet
46 MT2015-20: Biochemical Correction of Severe Epidermolysis Bullosa by Allogeneic Cell Transplantation and Serial Donor Mesenchymal Cell Infusions Recruiting NCT02582775 Phase 2 Thymoglobulin;Cyclophosphamide;Fludarabine;Tacrolimus;Mycophenolate Mofetil;Busulfan
47 TOPICAL GENTAMICIN TREATMENT OF PATIENTS WITH EPIDERMOLYSIS BULLOSA DUE TO NONSENSE MUTATIONS Recruiting NCT04644627 Phase 1, Phase 2 Gentamicin Sulfate
48 A Phase II Study of Beremagene Geperpavec (KB103), a Non-Integrating, Replication-Incompetent Herpes Simplex Virus 1 (HSV-1) Vector Expressing the Human Collagen VII (COL7) Protein, for the Treatment of Dystrophic Epidermolysis Bullosa (DEB) Active, not recruiting NCT03536143 Phase 2
49 An Interventional, Multicenter, Single Arm, Phase I/IIa Clinical Trial to Investigate the Efficacy and Safety of Allo-APZ2-EB on Epidermolysis Bullosa (EB) Active, not recruiting NCT03529877 Phase 1, Phase 2
50 A Phase 1/2A Single Center Trial of Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Using the Drug LZRSE-Col7A1 Engineered Autologous Epidermal Sheets (LEAES) Active, not recruiting NCT01263379 Phase 1, Phase 2

Search NIH Clinical Center for Epidermolysis Bullosa

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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 29
Sources

Anatomical Context for Epidermolysis Bullosa

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MalaCards organs/tissues related to Epidermolysis Bullosa:

40
Skin, Breast, Bone Marrow, Kidney, Bone, Heart, Neutrophil
Sources

Publications for Epidermolysis Bullosa

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Articles related to Epidermolysis Bullosa:

(show top 50) (show all 5415)
# Title Authors PMID Year
1
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex. 61 54
20052759 2010
2
Lethal acantholytic epidermolysis bullosa. 61 54
19945626 2010
3
Epidermolysis bullosa nevus arising in a patient with Dowling-Meara type epidermolysis bullosa simplex with a novel K5 mutation. 61 54
19691749 2009
4
Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells. 54 61
18955559 2009
5
[What's new in pediatric dermatology?]. 54 61
19264210 2008
6
Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14. 54 61
18713255 2008
7
Human bullous pemphigoid antigen 2 transgenic skin elicits specific IgG in wild-type mice. 54 61
17657247 2007
8
Possible involvement of exon 31 alternative splicing in phenotype and severity of epidermolysis bullosa caused by mutations in PLEC1. 61 54
17273164 2007
9
Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. 61 54
17476356 2007
10
Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa. 61 54
16252234 2005
11
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. 61 54
16175511 2005
12
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. 54 61
15654962 2005
13
Single amino acid substitutions in procollagen VII affect early stages of assembly of anchoring fibrils. 61 54
15509587 2005
14
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta4 gene (ITGB4). 54 61
15009117 2004
15
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. 54 61
15206692 2004
16
Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin. 61 54
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. 61 54
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. 54 61
11522777 2001
19
Reduced expression of the epithelial adhesion ligand laminin 5 in the skin causes intradermal tissue separation. 54 61
11279058 2001
20
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. 54 61
11328943 2001
21
Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa. 61 54
10873890 2000
22
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy. 54 61
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. 61 54
10523500 1999
24
Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation? 61 54
10232406 1999
25
Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa. 54 61
10232407 1999
26
Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests. 61 54
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. 61 54
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. 61 54
9804354 1998
29
Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. 54 61
9892956 1998
30
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. 54 61
9792864 1998
31
Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa. 61 54
9740253 1998
32
Essential role of alpha 6 integrins in cortical and retinal lamination. 54 61
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. 54 61
9546354 1998
34
Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4). 54 61
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. 61 54
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. 61 54
8712842 1996
37
Absence of integrin alpha 6 leads to epidermolysis bullosa and neonatal death in mice. 54 61
8673141 1996
38
DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence. 54 61
7706758 1995
39
[The human genome--chromosome 3]. 61 54
7712532 1995
40
Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa. 61 54
7774918 1995
41
Altered expression of a new antigen of the dermal-epidermal junction (NU-T2 DEJ Ag) in junctional epidermolysis bullosa. 61 54
8554379 1995
42
Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3). 61 54
7550237 1995
43
Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes. 61 54
7963683 1994
44
Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms. 54 61
8051117 1994
45
Antigenic expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa. 61 54
8063286 1994
46
Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. 61 54
8012393 1994
47
Epidermolysis bullosa: hereditary skin fragility diseases as paradigms in cell biology. 54 61
7537032 1994
48
cDNA cloning and chromosomal mapping of the mouse type VII collagen gene (Col7a1): evidence for rapid evolutionary divergence of the gene. 54 61
8325648 1993
49
Epidermolysis bullosa simplex Dowling-Meara: troublesome blistering and pruritus in an adult patient. 54 61
8435522 1993
50
Bullous pemphigoid antigen: cDNA cloning, cellular expression, and evidence for polymorphism of the human gene. 61 54
2045679 1991
Sources

Variations for Epidermolysis Bullosa

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Expression for Epidermolysis Bullosa

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

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

(show all 31)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.75 LAMC2 LAMB3 LAMA3 ITGB4 ITGA6 ITGA3
2
Integrin Pathway 63
Show member pathways
 13.31 MMP1 LAMC2 LAMB3 LAMA3 ITGB4 ITGA6
3
Phospholipase-C Pathway 63
Show member pathways
 12.95 LAMC2 LAMB3 LAMA3 ITGB4 ITGA6 ITGA3
4
PI3K-Akt signaling pathway 36
Show member pathways
 12.92 LAMC2 LAMB3 LAMA3 ITGB4 ITGA6 ITGA3
5
Focal Adhesion 36 1
Show member pathways
 12.83 LAMC2 LAMB3 LAMA3 ITGB4 ITGA6 ITGA3
6
Pathways in cancer 36
12.77 MMP1 LAMC2 LAMB3 LAMA3 ITGA6 ITGA3
7
Beta-Adrenergic Signaling 63
Show member pathways
 12.71 LAMC2 LAMB3 LAMA3 ITGB4 ITGA6 ITGA3
8
Cell junction organization 65
Show member pathways
 12.43 PLEC LAMC2 LAMB3 LAMA3 ITGB4 ITGA6
9
Keratinization 65
Show member pathways
 12.41 PKP1 KRT5 KRT14 FLG DSP
10
MET promotes cell motility 65
Show member pathways
 12.41 LAMC2 LAMB3 LAMA3 ITGB4 ITGA6 ITGA3
11
Collagen chain trimerization 65
Show member pathways
 12.39 PLEC LAMC2 LAMB3 LAMA3 ITGB4 ITGA6
12
Toxoplasmosis 36
Show member pathways
 12.19 LAMC2 LAMB3 LAMA3 ITGA6
13
Arrhythmogenic right ventricular cardiomyopathy 36 1
12.09 ITGB4 ITGA6 ITGA3 DSP
14
Degradation of the extracellular matrix 65
Show member pathways
 12.05 PLEC MMP1 LAMC2 LAMB3 LAMA3 ITGB4
15
Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview 64
Show member pathways
 12.04 LAMA3 ITGB4 ITGA6 ITGA3
16
ECM-receptor interaction 36
Show member pathways
 11.99 LAMC2 LAMB3 LAMA3 ITGB4 ITGA6 ITGA3
17
Adhesion 4
11.92 PLEC ITGB4 ITGA6 DSP CD151
18
Apoptotic cleavage of cellular proteins 65
Show member pathways
 11.89 PLEC PKP1 DSP
19
Amoebiasis 36
11.83 LAMC2 LAMB3 LAMA3
20
Small cell lung cancer 36
11.77 LAMC2 LAMB3 LAMA3 ITGA6 ITGA3
21
Cytoskeleton remodeling Neurofilaments 23
Show member pathways
 11.77 PLEC PKP1 KRT5 KRT14 DST DSP
22
Phagocytosis of Microbes 63
11.74 ITGB4 ITGA6 ITGA3
23
Glucocorticoid receptor regulatory network 1
11.72 MMP1 KRT5 KRT14
24
Primary Focal Segmental Glomerulosclerosis FSGS 1
11.67 ITGB4 ITGA3 CD151
25
Cell adhesion_ECM remodeling 23
11.58 MMP1 LAMC2 LAMB3 LAMA3
26
Cell adhesion_Endothelial cell contacts by non-junctional mechanisms 23
11.38 ITGB4 ITGA6 ITGA3
27
Validated transcriptional targets of AP1 family members Fra1 and Fra2 1
11.28 MMP1 LAMA3 ITGB4
28
a6b1 and a6b4 Integrin signaling 1
11.22 ITGB4 ITGA6 COL17A1
29
Basigin interactions 65
11.12 MMP1 ITGA6 ITGA3
31
G-protein signaling_Rap2B regulation pathway 23
10.87 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:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.08 PLEC LAMA3 KRT5 KRT14 ITGB4 ITGA3
2 cell junction GO:0030054 9.86 PLEC PKP1 KLHL24 ITGB4 ITGA3 DST
3 focal adhesion GO:0005925 9.85 PLEC ITGB4 ITGA6 ITGA3 DST CD151
4 collagen-containing extracellular matrix GO:0062023 9.8 LAMC2 LAMB3 LAMA3 FLG COL7A1 COL17A1
5 intermediate filament GO:0005882 9.7 PLEC PKP1 KRT5 KRT14 FLG DST
6 cornified envelope GO:0001533 9.63 PKP1 FLG DSP
7 integrin complex GO:0008305 9.61 ITGB4 ITGA6 ITGA3
8 desmosome GO:0030057 9.58 PKP1 KLHL24 DSP
9 hemidesmosome GO:0030056 9.26 PLEC ITGB4 DST COL17A1
10 basement membrane GO:0005604 9.23 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 adhesion GO:0007155 9.96 PKP1 LAMC2 LAMB3 LAMA3 ITGB4 ITGA6
2 cell migration GO:0016477 9.85 LAMB3 LAMA3 ITGB4 CD151
3 keratinization GO:0031424 9.83 PKP1 KRT5 KRT14 DSP
4 extracellular matrix organization GO:0030198 9.81 MMP1 LAMC2 LAMB3 LAMA3 ITGB4 ITGA6
5 cell-cell adhesion GO:0098609 9.78 PKP1 LAMA3 ITGA6 DSP
6 cornification GO:0070268 9.77 PKP1 KRT5 KRT14 FLG DSP
7 wound healing GO:0042060 9.75 PLEC DST DSP
8 cell-matrix adhesion GO:0007160 9.74 ITGB4 ITGA3 COL17A1
9 integrin-mediated signaling pathway GO:0007229 9.72 LAMA3 ITGB4 ITGA6 ITGA3 DST
10 tissue development GO:0009888 9.63 LAMC2 LAMB3 LAMA3
11 endodermal cell differentiation GO:0035987 9.61 LAMB3 LAMA3 COL7A1
12 intermediate filament organization GO:0045109 9.58 KLHL24 DSP
13 intermediate filament cytoskeleton organization GO:0045104 9.58 PLEC DST DSP
14 mesodermal cell differentiation GO:0048333 9.56 ITGB4 ITGA3
15 epidermis development GO:0008544 9.56 LAMC2 LAMB3 LAMA3 KRT5 KRT14 DSP
16 skin morphogenesis GO:0043589 9.54 ITGB4 ITGA6
17 nail development GO:0035878 9.51 ITGB4 ITGA6
18 intermediate filament bundle assembly GO:0045110 9.49 PKP1 KRT14
19 hemidesmosome assembly GO:0031581 9.36 PLEC LAMC2 LAMB3 LAMA3 KRT5 KRT14

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 9.56 LAMC2 LAMB3 LAMA3 COL17A1
2 structural constituent of cytoskeleton GO:0005200 9.46 PLEC KRT5 KRT14 DSP
3 structural constituent of epidermis GO:0030280 9.4 PKP1 FLG
4 insulin-like growth factor I binding GO:0031994 9.37 ITGB4 ITGA6
5 integrin binding GO:0005178 9.35 LAMA3 ITGB4 ITGA3 DST CD151
6 neuregulin binding GO:0038132 9.32 ITGB4 ITGA6
7 structural molecule activity GO:0005198 9.17 PLEC LAMB3 LAMA3 KRT14 FLG DST
Sources

Sources for Epidermolysis Bullosa

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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