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MCID: EPD016
MIFTS: 57

Epidermolysis Bullosa

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 77 54 38 30 56 45 15 41 17 74
Acantholysis Bullosa 12
Eb 54

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34


External Ids:

Disease Ontology 12 DOID:2730
KEGG 38 H01737
MeSH 45 D004820
NCIt 51 C67383
SNOMED-CT 69 61003004
ICD10 34 Q81 Q81.9
UMLS 74 C0014527
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Summaries for Epidermolysis Bullosa

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NIH Rare Diseases : 54 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 simplex, dowling-meara type 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 Tetracycline and Morphine have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and bone, and related phenotypes are Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance and craniofacial

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.

Wikipedia : 77 Epidermolysis bullosa (EB) is a group of genetic conditions that result in easy blistering of the skin... more...

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Related Diseases for Epidermolysis Bullosa

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

(show top 50) (show all 377)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex, dowling-meara type 34.9 KRT14 KRT5
2 epidermolysis bullosa, junctional, herlitz type 34.8 LAMA3 LAMB3 LAMC2
3 epidermolysis bullosa simplex, autosomal recessive 1 34.7 KRT14 KRT5
4 epidermolysis bullosa dystrophica 34.7 COL7A1 DST
5 epidermolysis bullosa simplex with pyloric atresia 34.7 ITGB4 PLEC
6 epidermolysis bullosa simplex, localized 34.7 ITGB4 KRT14 KRT5
7 epidermolysis bullosa simplex, generalized 34.5 KLHL24 KRT14 KRT5
8 epidermolysis bullosa simplex with muscular dystrophy 34.5 COL17A1 DST PLEC
9 epidermolysis bullosa simplex with mottled pigmentation 34.4 EXPH5 KRT14 KRT5
10 epidermolysis bullosa with pyloric atresia 34.2 ITGA6 ITGB4 PLEC
11 epidermolysis bullosa acquisita 34.1 COL17A1 COL7A1 DST ITGB4 LAMA3
12 epidermolysis bullosa junctionalis with pyloric atresia 33.9 COL17A1 DST ITGA6 ITGB4 PLEC
13 epidermolysis bullosa simplex 33.3 COL17A1 DST ITGB4 KLHL24 KRT14 KRT5
14 junctional epidermolysis bullosa 33.3 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
15 kindler syndrome 33.1 COL7A1 DST ITGB4
16 epidermolysis bullosa, junctional, non-herlitz type 33.1 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
17 pyloric atresia 31.0 COL17A1 ITGA6 ITGB4 LAMC2 PLEC
18 aplasia cutis congenita 30.9 COL7A1 ITGA6 ITGB4
19 linear iga disease 30.4 COL17A1 DST ITGB4
20 maternal uniparental disomy of chromosome 1 30.3 LAMA3 LAMB3 LAMC2
21 lichen planopilaris 30.2 COL17A1 KRT14 KRT5
22 cicatricial pemphigoid 30.0 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
23 pemphigus 29.9 COL17A1 DSP DST
24 bullous pemphigoid 29.6 COL17A1 DSP DST ITGA6 ITGB4 LAMA3
25 epidermolysis bullosa dystrophica, autosomal recessive 13.0
26 recessive dystrophic epidermolysis bullosa 13.0
27 epidermolysis bullosa dystrophica, pretibial 12.9
28 epidermolysis bullosa dystrophica, autosomal dominant 12.9
29 epidermolysis bullosa, lethal acantholytic 12.9
30 epidermolysis bullosa pruriginosa 12.9
31 epidermolysis bullosa simplex, ogna type 12.9
32 epidermolysis bullosa simplex with migratory circinate erythema 12.8
33 epidermolysis bullosa simplex, autosomal recessive 2 12.8
34 dominant dystrophic epidermolysis bullosa 12.8
35 recessive dystrophic epidermolysis bullosa-generalized other 12.8
36 epidermolysis bullosa, nonspecific, autosomal recessive 12.7
37 epidermolysis bullosa with congenital localized absence of skin and deformity of nails 12.7
38 epidermolysis bullosa simplex with nail dystrophy 12.7
39 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 12.7
40 nephropathy with pretibial epidermolysis bullosa and deafness 12.7
41 epidermolysis bullosa simplex, generalized, with scarring and hair loss 12.6
42 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 12.6
43 epidermolysis bullosa simplex superficialis 12.5
44 late-onset junctional epidermolysis bullosa 12.5
45 transient bullous dermolysis of the newborn 12.4
46 centripetalis recessive dystrophic epidermolysis bullosa 12.4
47 epidermolysis bullosa, late-onset localized junctional, with mental retardation 12.4
48 epidermolysis bullosa simplex with anodontia/hypodontia 12.4
49 junctional epidermolysis bullosa inversa 12.4
50 epidermolysis bullosa dystrophica neurotrophica 12.3

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.92 ITGA3 ITGA6 ITGB4 PLEC

MGI Mouse Phenotypes related to Epidermolysis Bullosa:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.02 COL7A1 DSP ITGA6 ITGB4 KRT14 KRT5
2 digestive/alimentary MP:0005381 10.02 COL7A1 DSP ITGA3 ITGA6 ITGB4 KRT14
3 growth/size/body region MP:0005378 10 COL7A1 DSP ITGA3 ITGA6 ITGB4 KRT14
4 integument MP:0010771 9.9 COL7A1 DSP ITGA3 ITGA6 ITGB4 KRT14
5 mortality/aging MP:0010768 9.7 COL7A1 DSP ITGA3 ITGA6 ITGB4 KRT14
6 respiratory system MP:0005388 9.17 ITGA3 ITGA6 ITGB4 KRT14 LAMA3 LAMB3
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 127)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tetracycline Approved, Vet_approved Phase 4 60-54-8 5353990
2
Morphine Approved, Investigational Phase 4 57-27-2 5288826
3 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
4 Anti-Bacterial Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
5 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
6 Narcotics Phase 4
7 Analgesics Phase 4,Phase 3,Not Applicable
8 Central Nervous System Depressants Phase 4,Phase 3,Not Applicable
9 Analgesics, Opioid Phase 4
10
Erythromycin Approved, Investigational, Vet_approved Phase 3 114-07-8 441411 12560
11
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
12
Allantoin Approved Phase 3,Phase 2 97-59-6 204
13
Coal tar Approved Phase 3 8007-45-2
14
Prilocaine Approved Phase 2, Phase 3 721-50-6 4906
15
Oxycodone Approved, Illicit, Investigational Phase 2, Phase 3 76-42-6 5284603
16
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
17
Hydroxyzine Approved Phase 2, Phase 3 68-88-2 3658
18
Pregabalin Approved, Illicit, Investigational Phase 3 148553-50-8 5486971
19
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
20 Erythromycin stearate Phase 3
21 Gastrointestinal Agents Phase 3
22 Erythromycin Ethylsuccinate Phase 3
23 Erythromycin Estolate Phase 3
24 Anesthetics Phase 2, Phase 3,Phase 1,Not Applicable
25 Acetylcholine Release Inhibitors Phase 2, Phase 3
26 abobotulinumtoxinA Phase 2, Phase 3
27 Botulinum Toxins, Type A Phase 2, Phase 3
28 Cholinergic Agents Phase 2, Phase 3
29 Neurotransmitter Agents Phase 2, Phase 3
30 Anti-Infective Agents, Local Phase 2, Phase 3
31 Sunflower Phase 3
32 Tranquilizing Agents Phase 3
33 Psychotropic Drugs Phase 3
34 Anticonvulsants Phase 3
35 Calcium, Dietary Phase 3
36 calcium channel blockers Phase 3
37 Hormones Phase 3
38 Anti-Anxiety Agents Phase 3
39
Fludarabine Approved Phase 2,Early Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
40
Tacrolimus Approved, Investigational Phase 2,Early Phase 1 104987-11-3 6473866 445643 439492
41
Busulfan Approved, Investigational Phase 2,Early Phase 1,Not Applicable 55-98-1 2478
42
Trimethoprim Approved, Vet_approved Phase 2 738-70-5 5578
43
leucovorin Approved Phase 2 58-05-9 143 6006
44
Lenograstim Approved, Investigational Phase 2 135968-09-1
45
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
46
Methoxsalen Approved Phase 2 298-81-7 4114
47
Mycophenolic acid Approved Phase 2 24280-93-1 446541
48
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
49
tannic acid Approved Phase 2 1401-55-4
50
Cyclophosphamide Approved, Investigational Phase 2,Not Applicable 50-18-0, 6055-19-2 2907

Interventional clinical trials:

(show top 50) (show all 82)
# Name Status NCT ID Phase Drugs
1 Randomised Double Blind Crossover Placebo Controlled Study to Evaluate the Efficacy of Tetracycline in Epidermolysis Bullosa Unknown status NCT00336154 Phase 4 tetracyclin
2 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
3 A Observational Study to Evaluate Apligraf(R) in Nonhealing Wounds of Subjects With Epidermolysis Bullosa Terminated NCT01619670 Phase 4
4 Treatment of Dowling Maera Type of Epidermolysis Bullosa Simplex by Oral Erythromycin Unknown status NCT01340235 Phase 3 Oral erythromycin
5 ESSENCE Study: Efficacy and Safety of SD-101 Cream in Participants With Epidermolysis Bullosa Completed NCT02384460 Phase 3 SD-101-6.0 cream;Placebo (SD-101-0.0) cream
6 Injections of Botulinic Toxin in Plantar Lesions of Localized Epidermolysis Bullosa Simplex Recruiting NCT03453632 Phase 2, Phase 3 Botulinic toxin;Placebo
7 Phase III Efficacy and Safety Study of Oleogel-S10 in Epidermolysis Bullosa Recruiting NCT03068780 Phase 3 Oleogel-S10;Placebo
8 A Comparative Study of the Healing of Chronic Ulcers of Recessive Epidermolysis Bullosa : Dressing vs Amniotic Membrane Recruiting NCT02286427 Phase 3
9 Pregabalin Treatment for RDEB Pain and Itch Not yet recruiting NCT03928093 Phase 3 Pregabalin
10 A Study of the Efficacy and Safety of ABH001 in the Treatment of Patients With Epidermolysis Bullosa Who Have Wounds That Are Not Healing Terminated NCT01749306 Phase 3
11 Safety and Efficacy of Apligraf in Nonhealing Wounds of Subjects With Junctional or Dystrophic Epidermolysis Bullosa (EB) Terminated NCT00587223 Phase 3
12 Study to Evaluate the Safety of ALLO-ASC-DFU in the Subjects With Dystrophic Epidermolysis Bullosa Unknown status NCT02579369 Phase 1, Phase 2
13 Diacerin for the Treatment of Epidermolysis Bullosa Simplex Unknown status NCT02470689 Phase 2 Diacerin cream
14 Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita Unknown status NCT00936533 Phase 2 Dysport® (Botulinumtoxin A (Btx A));Placebo
15 Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis Bullosa Unknown status NCT02323789 Phase 1, Phase 2 Mesenchymal stromal cells
16 Study of Alwextin® Cream in Treating Epidermolysis Bullosa Completed NCT00825565 Phase 2 Alwextin cream
17 Study of Effectiveness and Safety of SD-101 in Subjects With Epidermolysis Bullosa Completed NCT02014376 Phase 2 3% SD-101 dermal cream;6% SD-101 dermal cream;Vehicle (0% SD-101)
18 Oleogel-S10 in Wound Healing of Inherited Epidermolysis Bullosa (BEB-10) Completed NCT01294241 Phase 2 Oleogel-S10
19 The Efficacy of Trimethoprim in Wound Healing of Patients With Epidermolysis Bullosa Completed NCT00380640 Phase 2 Trimethoprim;Trimethoprim
20 Efficacy of Granulocyte Colony Stimulating Factor (GCSF) In Patients With Dystrophic Epidermolysis Bullosa Completed NCT01538862 Phase 2 Granulocyte Colony Stimulating Factor (GCSF)
21 Treatment of Epidermolysis Bullosa Dystrophica by Polyphenon E (Epigallocatechin 3 Gallate) Completed NCT00951964 Phase 2 Polyphenon E before Placebo;placebo before treatment
22 Gentamicin for RDEB Completed NCT03012191 Phase 1, Phase 2 Gentamicin Sulfate
23 A Double-blind, Intra-individual Comparison, POC Trial of AC-203 in EB Patients Completed NCT03468322 Phase 2 AC-203;Vehicle
24 Phase II Pilot Study of Extracorporeal Phototherapy for Epidermolysis Bullosa Acquisita Completed NCT00004359 Phase 2 methoxsalen
25 Trial To Assess Efficacy Of A Chimeric Skin In Patients With Epidermolysys Bullosa Completed NCT00987142 Phase 2 CX501
26 Evaluation of the Safety and Efficacy Study of RGN-137 Topical Gel for Junctional and Dystrophic Epidermolysis Bullosa Recruiting NCT03578029 Phase 2 RGN-137;Placebo
27 Allogeneic ABCB5-positive Stem Cells for Treatment of Epidermolysis Bullosa Recruiting NCT03529877 Phase 1, Phase 2
28 A Neurokinin-1 Receptor Antagonist for the Treatment of Pruritus in Patients With Epidermolysis Bullosa Recruiting NCT03836001 Phase 2 Serlopitant Tablet;Placebo Oral Tablet
29 A Phase 1/2 Trial of PTR-01 in Adult Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT03752905 Phase 1, Phase 2 PTR-01;Normal saline
30 Topical Bercolagene Telserpavec (KB103) Gene Therapy to Restore Functional Collagen VII for the Treatment of Dystrophic Epidermolysis Bullosa Recruiting NCT03536143 Phase 2
31 A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT02810951 Phase 1, Phase 2
32 Biochemical Correction of Severe EB by Allo HSCT and "Off-the-shelf" MSCs Recruiting NCT01033552 Phase 2 Cyclophosphamide;Fludarabine;Anti-thymocyte globulin;Cyclosporine A;Mycophenolate mofetil
33 Intravenous Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT03392909 Phase 1, Phase 2 Gentamicin
34 MT2015-20: Biochemical Correction of Severe EB by Allo HSCT and Serial Donor MSCs Recruiting NCT02582775 Phase 2 Thymoglobulin;Cyclophosphamide;Fludarabine;Tacrolimus;Mycophenolate Mofetil;Busulfan
35 Gentamicin for Junctional Epidermolysis Bullosa Recruiting NCT03526159 Phase 1, Phase 2 Gentamicin Sulfate
36 Clinical Trial to Assess Safety and Efficacy of Autologous Cultured Epidermal Grafts Containing Epidermal Stem Cells Genetically Modified in Patients With JEB (HOLOGENE17) Recruiting NCT03490331 Phase 1, Phase 2
37 Clinical Trial to Assess Safety and Efficacy of Autologous Cultured Epidermal Grafts Containing Epidermal Stem Cells Genetically Modified in Patients With RDEB. Recruiting NCT02984085 Phase 1, Phase 2 Genetically corrected cultured epidermal autograft (ATMP)
38 Topical QR-313 in Recessive Dystrophic Epidermolysis Bullosa (RDEB) Due to Mutation(s) in Exon 73 of the COL7A1gene Recruiting NCT03605069 Phase 1, Phase 2 QR-313;Placebo
39 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Recruiting NCT03016715 Phase 2 Sirolimus 2%;Vehicle
40 Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT01263379 Phase 1, Phase 2
41 Neurokinin-1 Receptor Antagonist for the Treatment of Itch in EB Patients Active, not recruiting NCT02654483 Phase 2 VPD-737
42 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Active, not recruiting NCT02960997 Phase 2 Sirolimus, 2%;Vehicle
43 Long Term Open-label Study Evaluating Safety of Diacerein 1% Ointment Topical Formulation in Subjects With Epidermolysis Bullosa Simplex Enrolling by invitation NCT03389308 Phase 2 Diacerein 1% Ointment
44 Rigosertib for RDEB-SCC Not yet recruiting NCT03786237 Phase 1, Phase 2 Rigosertib Oral Capsules / Rigosertib Oral Liquid Solution / Rigosertib Intravenous
45 Safety and Efficacy of Diacerein 1% Ointment Topical Formulation Compared to Placebo for Subjects With Epidermolysis Bullosa Simplex (EBS) Terminated NCT03154333 Phase 2 Diacerein 1% Ointment Topical Formulation;Vehicle
46 A Phase 2 Study on Effect of Thymosin Beta 4 on Wound Healing in Patients With Epidermolysis Bullosa Terminated NCT00311766 Phase 2 Thymosin Beta 4;Placebo
47 A Pilot Study of HP802-247 in Dystrophic Epidermolysis Bullosa Withdrawn NCT01528306 Phase 2
48 Autologous Transplantation of Cultured Fibroblast on Amniotic Membrane in Patients With Epidermolysis Bullosa Completed NCT01908088 Phase 1
49 Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis Bullosa Completed NCT02493816 Phase 1 Gene-modified autologous fibroblasts
50 Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00014729 Phase 1 isotretinoin

Search NIH Clinical Center for Epidermolysis Bullosa

Inferred drug relations via UMLS 74 / NDF-RT 52 :


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 30
Sources

Anatomical Context for Epidermolysis Bullosa

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MalaCards organs/tissues related to Epidermolysis Bullosa:

42
Skin, Testes, Bone, Breast, Lung, Colon, Bone Marrow
Sources

Publications for Epidermolysis Bullosa

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Articles related to Epidermolysis Bullosa:

(show top 50) (show all 3158)
# Title Authors Year
1
Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy. ( 30120936 )
2019
2
Dilated Cardiomyopathy in a Child with Recessive Dystrophic Epidermolysis Bullosa. ( 29699768 )
2019
3
Dominant dystrophic epidermolysis bullosa pruriginosa with a COL7A1 exon 87 c.6898C>T mutation. ( 30168161 )
2019
4
Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work. ( 30809829 )
2019
5
Correction: Pathology in Practice: presumptive epidermolysis bullosa acquisita in a dog. ( 30938612 )
2019
6
Possible involvement of IgE antibody in epidermolysis bullosa acquisita: detection and correlation. ( 30973335 )
2019
7
Extended Wear Bandage Contact Lenses Decrease Pain and Preserve Vision in Patients with Epidermolysis Bullosa: Case Series and Review of Literature. ( 30986129 )
2019
8
An overview of the genetic basis of Epidermolysis Bullosa in Brazil: discovery of novel and recurrent disease-causing variants. ( 31001817 )
2019
9
Silver Impregnated Foam Dressings Over Circumferentially Involved Curved Surfaces in Epidermolysis Bullosa Hand Surgery. ( 31002847 )
2019
10
Patent landscape of molecular and cellular targeted therapies for recessive dystrophic epidermolysis bullosa. ( 31017019 )
2019
11
Type VII collagen IgE autoantibodies in epidermolysis bullosa acquisita: more common than suspected. ( 31025734 )
2019
12
Bothersome blisters: localized epidermolysis bullosa simplex. ( 31039243 )
2019
13
Cultured epidermal autografts from clinically revertant skin as a potential wound treatment for recessive dystrophic epidermolysis bullosa. ( 31054844 )
2019
14
Gene Therapy for Epidermolysis Bullosa. ( 31068252 )
2019
15
Treatment of keratinocytes with 4-phenylbutyrate in epidermolysis bullosa: Lessons for therapies in keratin disorders. ( 31078522 )
2019
16
Digital scanning for implant-supported fixed complete-arch dental prostheses for patients with epidermolysis bullosa: A case series evaluation. ( 31079885 )
2019
17
Ocular involvement in epidermolysis bullosa acquisita with long-term follow-up. ( 31088794 )
2019
18
Successful correction of pseudosyndactyly in recessive dystrophic epidermolysis bullosa using full thickness skin graft in resource-poor settings. ( 31089008 )
2019
19
Clinical Practice Guidelines for Epidermolysis Bullosa Laboratory Diagnosis. ( 31090061 )
2019
20
Laminin 332-Dependent YAP Dysregulation Depletes Epidermal Stem Cells in Junctional Epidermolysis Bullosa. ( 31091444 )
2019
21
Topical Diacerein Cream for Epidermolysis Bullosa Simplex: A Review ( 31095348 )
2019
22
Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment. ( 29932457 )
2019
23
Junctional epidermolysis bullosa without pyloric atresia due to a homozygous missense mutation in ITGB4. ( 30079450 )
2019
24
An ex vivo RNA trans-splicing strategy to correct human generalized severe epidermolysis bullosa simplex. ( 30099737 )
2019
25
Direct Immunofluorescence of Mechanobullous Epidermolysis Bullosa Acquisita, Porphyria Cutanea Tarda and Pseudoporphyria. ( 30176039 )
2019
26
Epidermolysis Bullosa Patients' Perception of Surgical Wound and Scar Healing. ( 30204740 )
2019
27
Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases. ( 30226531 )
2019
28
Dystrophic epidermolysis bullosa pruriginosa presenting with flagellate scarring lesions. ( 30288768 )
2019
29
Detection of anti-type VII collagen IgE antibodies in epidermolysis bullosa acquisita. ( 30311191 )
2019
30
In utero development of epidermolysis bullosa acquisita. ( 30338555 )
2019
31
Combined tetrahydrocannabinol and cannabidiol to treat pain in epidermolysis bullosa: a report of three cases. ( 30347109 )
2019
32
Inherited epidermolysis bullosa: description of clinical and subclinical morphological features with optical coherence tomography. ( 30357934 )
2019
33
Post-orf epidermolysis bullosa acquisita. ( 30357964 )
2019
34
Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic versus Non-Syndromic Skin Fragility Disorders. ( 30393082 )
2019
35
Epidermolysis bullosa-specific module of the Infants and Toddlers Dermatology Quality of Life (InToDermQoL) questionnaire. ( 30422350 )
2019
36
Definitive radiotherapy for Merkel cell carcinoma in the setting of epidermolysis bullosa simplex. ( 30450568 )
2019
37
Correlation between disease severity and quality of life in patients with epidermolysis bullosa. ( 30472803 )
2019
38
Allogeneic Haematopoietic Cell Transplantation for Epidermolysis Bullosa: the Dutch Experience. ( 30484854 )
2019
39
Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis. ( 30515866 )
2019
40
Therapies for epidermolysis bullosa: delivery is key. ( 30604552 )
2019
41
Iterative codesign and testing of a novel dressing glove for epidermolysis bullosa. ( 30625043 )
2019
42
Retrospective longitudinal study of osteoporosis in adults with recessive dystrophic epidermolysis bullosa. ( 30656009 )
2019
43
A retrospective cohort study evaluating the accuracy of clinical diagnosis compared with immunofluorescence and electron microscopy in children with inherited epidermolysis bullosa. ( 30657165 )
2019
44
Elevation of serum interleukin-21 in patients with epidermolysis bullosa acquisita. ( 30672610 )
2019
45
A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa. ( 30673110 )
2019
46
Thrombospondin-1 Is a Major Activator of TGF-β Signaling in Recessive Dystrophic Epidermolysis Bullosa Fibroblasts. ( 30684555 )
2019
47
Successful tracheal intubation using videolaryngoscope in Shwachman-Diamond syndrome patient combined with congenital epidermolysis bullosa. ( 30684918 )
2019
48
Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT5. ( 30690752 )
2019
49
Validity of first-time diagnoses of congenital epidermolysis bullosa in the Danish National Patient Registry and the Danish Pathology Registry. ( 30697082 )
2019
50
Potential therapeutic targeting of inflammation in epidermolysis bullosa simplex. ( 30714107 )
2019
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 32)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 65
Show member pathways
 13.71 COL17A1 COL7A1 DSP ITGA3 ITGA6 ITGB4
2
Integrin Pathway 65
Show member pathways
 13.25 COL17A1 COL7A1 ITGA3 ITGA6 ITGB4 LAMA3
3
Phospholipase-C Pathway 65
Show member pathways
 12.95 COL17A1 COL7A1 ITGA3 ITGA6 ITGB4 LAMA3
4
PI3K-Akt signaling pathway 38
Show member pathways
 12.87 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
5
Focal Adhesion 1 38
Show member pathways
 12.77 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
6
Pathways in cancer 38
12.72 ITGA3 ITGA6 LAMA3 LAMB3 LAMC2
7
Beta-Adrenergic Signaling 65
Show member pathways
 12.67 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
8
Cell junction organization 67
Show member pathways
 12.38 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
9
MET promotes cell motility 67
Show member pathways
 12.37 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
10
Collagen chain trimerization 67
Show member pathways
 12.33 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
11
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 38
Show member pathways
 12.31 DSP ITGA3 ITGA6 ITGB4
12
Toxoplasmosis 38
Show member pathways
 12.15 ITGA6 LAMA3 LAMB3 LAMC2
13
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 23
Show member pathways
 12.07 COL17A1 COL7A1 ITGA3 ITGA6 ITGB4 LAMA3
14
Dilated cardiomyopathy (DCM) 38
Show member pathways
 12.06 ITGA3 ITGA6 ITGB4
15
AKT Signaling Pathway 68
11.98 ITGA3 ITGA6 ITGB4
16
Degradation of the extracellular matrix 67
Show member pathways
 11.98 COL17A1 COL7A1 DST ITGA3 ITGA6 ITGB4
17
Adhesion 4
11.93 DSP ITGA6 ITGB4 PLEC
18
ECM-receptor interaction 38
Show member pathways
 11.92 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
19
Cytoskeleton remodeling Neurofilaments 23
Show member pathways
 11.91 DSP DST KRT14 KRT5 PLEC
20
Reelin Pathway (Cajal-Retzius cells) 65
11.81 ITGA3 ITGA6 ITGB4
21
Amoebiasis 38
11.78 LAMA3 LAMB3 LAMC2
22
Small cell lung cancer 38
11.77 ITGA3 ITGA6 LAMA3 LAMB3 LAMC2
23
Phagocytosis of Microbes 65
11.72 ITGA3 ITGA6 ITGB4
24
Cell adhesion_ECM remodeling 23
11.55 LAMA3 LAMB3 LAMC2
25
G-protein signaling_Regulation of RAC1 activity 23
11.49 ITGA3 ITGA6 ITGB4
26
Cytoskeleton remodeling_RalA regulation pathway 23
11.37 ITGA3 ITGA6 ITGB4
27
Cell adhesion_Endothelial cell contacts by non-junctional mechanisms 23
11.35 ITGA3 ITGA6 ITGB4
28
a6b1 and a6b4 Integrin signaling 1
11.22 COL17A1 ITGA6 ITGB4
29
Validated transcriptional targets of AP1 family members Fra1 and Fra2 1
11.19 ITGB4 LAMA3
30
Basigin interactions 67
11.07 ITGA3 ITGA6
32
G-protein signaling_Rap2B regulation pathway 23
10.83 COL17A1 COL7A1 ITGA3 ITGA6 ITGB4 LAMA3
Sources

GO Terms for Epidermolysis Bullosa

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.8 DST ITGA3 ITGA6 ITGB4 PLEC
2 cell junction GO:0030054 9.8 COL17A1 DSP DST ITGA3 ITGB4 KLHL24
3 collagen-containing extracellular matrix GO:0062023 9.73 COL17A1 COL7A1 LAMA3 LAMC2
4 intermediate filament GO:0005882 9.55 DSP DST KRT14 KRT5 PLEC
5 basal plasma membrane GO:0009925 9.51 DST ITGA6
6 integrin complex GO:0008305 9.5 ITGA3 ITGA6 ITGB4
7 basement membrane GO:0005604 9.5 COL17A1 COL7A1 DST ITGA6 LAMA3 LAMB3
8 desmosome GO:0030057 9.48 DSP KLHL24
9 basal part of cell GO:0045178 9.46 ITGA6 KRT14
10 laminin-5 complex GO:0005610 9.37 LAMA3 LAMB3
11 hemidesmosome GO:0030056 9.02 COL17A1 DST ITGA6 ITGB4 PLEC
12 extracellular exosome GO:0070062 10.04 DSP ITGA3 ITGB4 KRT14 KRT5 LAMA3

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 9.86 COL7A1 DST ITGA3 ITGA6 ITGB4 LAMA3
2 extracellular matrix organization GO:0030198 9.76 COL17A1 COL7A1 ITGA3 ITGA6 ITGB4 LAMA3
3 cornification GO:0070268 9.71 DSP KRT14 KRT5
4 cell-matrix adhesion GO:0007160 9.71 COL17A1 ITGA3 ITGA6 ITGB4
5 wound healing GO:0042060 9.69 DSP DST PLEC
6 integrin-mediated signaling pathway GO:0007229 9.67 DST ITGA3 ITGA6 ITGB4
7 endodermal cell differentiation GO:0035987 9.63 COL7A1 LAMA3 LAMB3
8 skin development GO:0043588 9.62 DSP ITGA3 ITGA6 ITGB4
9 intermediate filament cytoskeleton organization GO:0045104 9.61 DSP DST PLEC
10 digestive tract development GO:0048565 9.58 ITGA6 ITGB4
11 brown fat cell differentiation GO:0050873 9.58 ITGA6 LAMB3
12 cell motility GO:0048870 9.57 DST ITGB4
13 renal system development GO:0072001 9.56 ITGA6 ITGB4
14 epidermis development GO:0008544 9.56 COL17A1 COL7A1 DSP KRT14 KRT5 LAMA3
15 intermediate filament organization GO:0045109 9.55 DSP KLHL24
16 mesodermal cell differentiation GO:0048333 9.52 ITGA3 ITGB4
17 amelogenesis GO:0097186 9.49 ITGA6 ITGB4
18 nail development GO:0035878 9.48 ITGA6 ITGB4
19 hemidesmosome assembly GO:0031581 9.32 COL17A1 DST ITGA6 ITGB4 KRT14 KRT5

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.54 DST ITGA3 ITGB4
2 extracellular matrix structural constituent GO:0005201 9.5 COL17A1 LAMA3 LAMC2
3 laminin binding GO:0043236 9.4 ITGA3 ITGA6
4 insulin-like growth factor I binding GO:0031994 9.26 ITGA6 ITGB4
5 structural constituent of cytoskeleton GO:0005200 9.26 DSP KRT14 KRT5 PLEC
6 neuregulin binding GO:0038132 9.16 ITGA6 ITGB4
7 structural molecule activity GO:0005198 9.02 DSP DST LAMA3 LAMB3 PLEC
Sources

Sources for Epidermolysis Bullosa

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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