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EB
MCID: EPD016
MIFTS: 57

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 76 53 37 29 55 44 15 40 73
Acantholysis Bullosa 12
Eb 53

Classifications:

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


External Ids:

Disease Ontology 12 DOID:2730
ICD10 33 Q81 Q81.9
MeSH 44 D004820
NCIt 50 C67383
SNOMED-CT 68 61003004
KEGG 37 H01737
UMLS 73 C0014527
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Summaries for Epidermolysis Bullosa

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NIH Rare Diseases : 53 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

Wikipedia : 76 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 324)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex, dowling-meara type 34.7 KRT14 KRT5
2 epidermolysis bullosa, junctional, herlitz type 34.6 LAMA3 LAMB3 LAMC2
3 epidermolysis bullosa simplex, localized 34.6 ITGB4 KRT14 KRT5
4 epidermolysis bullosa dystrophica 34.5 COL7A1 DST
5 epidermolysis bullosa simplex, generalized 34.5 KLHL24 KRT14 KRT5
6 epidermolysis bullosa simplex with muscular dystrophy 34.4 COL17A1 DST PLEC
7 epidermolysis bullosa simplex, autosomal recessive 1 34.4 KRT14 KRT5
8 epidermolysis bullosa simplex with mottled pigmentation 34.4 EXPH5 KRT14 KRT5
9 epidermolysis bullosa simplex with pyloric atresia 34.4 ITGB4 PLEC
10 epidermolysis bullosa with pyloric atresia 34.1 ITGA6 ITGB4 PLEC
11 epidermolysis bullosa junctionalis with pyloric atresia 34.1 COL17A1 DST ITGA6 ITGB4 PLEC
12 epidermolysis bullosa acquisita 34.1 COL17A1 COL7A1 DST ITGB4 LAMA3
13 epidermolysis bullosa simplex 33.8 COL17A1 DST ITGB4 KLHL24 KRT14 KRT5
14 junctional epidermolysis bullosa 33.6 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
15 epidermolysis bullosa, junctional, non-herlitz type 33.5 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
16 kindler syndrome 33.0 COL7A1 DST ITGB4
17 pyloric atresia 31.2 COL17A1 ITGA6 ITGB4 LAMC2 PLEC
18 aplasia cutis congenita 30.8 COL7A1 ITGA6 ITGB4
19 linear iga disease 30.6 COL17A1 DST ITGB4
20 cicatricial pemphigoid 30.2 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
21 bullous pemphigoid 30.1 COL17A1 DSP DST ITGA6 ITGB4 LAMA3
22 lichen planopilaris 30.1 COL17A1 KRT14 KRT5
23 maternal uniparental disomy of chromosome 1 30.1 LAMA3 LAMB3 LAMC2
24 pemphigus 29.9 COL17A1 DSP DST
25 epidermolysis bullosa dystrophica, autosomal recessive 12.9
26 recessive dystrophic epidermolysis bullosa 12.9
27 epidermolysis bullosa dystrophica, pretibial 12.9
28 epidermolysis bullosa, lethal acantholytic 12.9
29 epidermolysis bullosa dystrophica, autosomal dominant 12.9
30 epidermolysis bullosa pruriginosa 12.9
31 epidermolysis bullosa simplex with migratory circinate erythema 12.8
32 epidermolysis bullosa simplex, ogna type 12.8
33 dominant dystrophic epidermolysis bullosa 12.7
34 recessive dystrophic epidermolysis bullosa-generalized other 12.7
35 epidermolysis bullosa simplex, autosomal recessive 2 12.7
36 epidermolysis bullosa, nonspecific, autosomal recessive 12.7
37 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 12.6
38 nephropathy with pretibial epidermolysis bullosa and deafness 12.6
39 epidermolysis bullosa simplex, generalized, with scarring and hair loss 12.6
40 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 12.6
41 epidermolysis bullosa with congenital localized absence of skin and deformity of nails 12.6
42 epidermolysis bullosa simplex with nail dystrophy 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 12.3
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:

26
# 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:

46
# 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 113)
# 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-Bacterial Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
4 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
5 Peripheral Nervous System Agents Phase 4,Phase 2
6 Central Nervous System Depressants Phase 4
7 Analgesics Phase 4
8 Narcotics Phase 4
9 Analgesics, Opioid Phase 4
10
Erythromycin Approved, Investigational, Vet_approved Phase 3 114-07-8 12560
11
Acetylcholine Approved Phase 2, Phase 3 51-84-3 187
12
Coal tar Approved Phase 3 8007-45-2
13
Allantoin Approved Phase 3,Phase 2 97-59-6 204
14
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
15
Hydroxyzine Approved Phase 2, Phase 3 68-88-2 3658
16
Oxycodone Approved, Illicit, Investigational Phase 2, Phase 3 76-42-6 5284603
17
Prilocaine Approved Phase 2, Phase 3 721-50-6 4906
18 Erythromycin stearate Phase 3
19 Gastrointestinal Agents Phase 3
20 Erythromycin Estolate Phase 3
21 Erythromycin Ethylsuccinate Phase 3
22 Anesthetics Phase 2, Phase 3,Phase 1
23 abobotulinumtoxinA Phase 2, Phase 3
24 onabotulinumtoxinA Phase 2, Phase 3
25 Cholinergic Agents Phase 2, Phase 3
26 Neurotransmitter Agents Phase 2, Phase 3
27 Botulinum Toxins, Type A Phase 2, Phase 3
28 Acetylcholine Release Inhibitors Phase 2, Phase 3
29 Anti-Infective Agents, Local Phase 2, Phase 3
30 Sunflower Phase 3
31
Fludarabine Approved Phase 2,Early Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
32
Tacrolimus Approved, Investigational Phase 2,Early Phase 1 104987-11-3 445643 439492
33
leucovorin Approved Phase 2 58-05-9 6006 143
34
Trimethoprim Approved, Vet_approved Phase 2 738-70-5 5578
35
Lenograstim Approved, Investigational Phase 2 135968-09-1
36
Methoxsalen Approved Phase 2 298-81-7 4114
37
Mycophenolic acid Approved Phase 2 24280-93-1 446541
38
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
39
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
40
Cyclophosphamide Approved, Investigational Phase 2,Not Applicable 6055-19-2, 50-18-0 2907
41 tannic acid Approved Phase 2
42
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
43
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
44
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
45
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
46
Mesna Approved, Investigational Phase 2 3375-50-6 598
47
Everolimus Approved Phase 2 159351-69-6 6442177
48
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
49
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
50
Epigallocatechin Experimental, Investigational Phase 2 970-74-1 72277

Interventional clinical trials:

(show top 50) (show all 79)
# 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 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
10 Safety and Efficacy of Apligraf in Nonhealing Wounds of Subjects With Junctional or Dystrophic Epidermolysis Bullosa (EB) Terminated NCT00587223 Phase 3
11 Study to Evaluate the Safety of ALLO-ASC-DFU in the Subjects With Dystrophic Epidermolysis Bullosa Unknown status NCT02579369 Phase 1, Phase 2
12 Diacerin for the Treatment of Epidermolysis Bullosa Simplex Unknown status NCT02470689 Phase 2 Diacerin cream
13 Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita Unknown status NCT00936533 Phase 2 Dysport® (Botulinumtoxin A (Btx A));Placebo
14 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa Patients With Nonsense Mutations Unknown status NCT03012191 Phase 1, Phase 2 Gentamicin Sulfate
15 Study of Alwextin® Cream in Treating Epidermolysis Bullosa Completed NCT00825565 Phase 2 Alwextin cream
16 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)
17 Oleogel-S10 in Wound Healing of Inherited Epidermolysis Bullosa (BEB-10) Completed NCT01294241 Phase 2 Oleogel-S10
18 The Efficacy of Trimethoprim in Wound Healing of Patients With Epidermolysis Bullosa Completed NCT00380640 Phase 2 Trimethoprim;Trimethoprim
19 Efficacy of Granulocyte Colony Stimulating Factor (GCSF) In Patients With Dystrophic Epidermolysis Bullosa Completed NCT01538862 Phase 2 Granulocyte Colony Stimulating Factor (GCSF)
20 Treatment of Epidermolysis Bullosa Dystrophica by Polyphenon E (Epigallocatechin 3 Gallate) Completed NCT00951964 Phase 2 Polyphenon E before Placebo;placebo before treatment
21 Phase II Pilot Study of Extracorporeal Phototherapy for Epidermolysis Bullosa Acquisita Completed NCT00004359 Phase 2 methoxsalen
22 Trial To Assess Efficacy Of A Chimeric Skin In Patients With Epidermolysys Bullosa Completed NCT00987142 Phase 2 CX501
23 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
24 Topical KB103 Gene Therapy to Restore Functional Collagen VII for the Treatment of Dystrophic Epidermolysis Bullosa Recruiting NCT03536143 Phase 2
25 A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT02810951 Phase 1, Phase 2
26 Intravenous Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT03392909 Phase 1, Phase 2 Gentamicin
27 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
28 MT2015-20: Biochemical Correction of Severe EB by Allo HSCT and Serial Donor MSCs Recruiting NCT02582775 Phase 2 Thymoglobulin;Cyclophosphamide;Fludarabine;Tacrolimus;Mycophenolate Mofetil
29 Gentamicin for Junctional Epidermolysis Bullosa Recruiting NCT03526159 Phase 1, Phase 2 Gentamicin Sulfate
30 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
31 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)
32 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
33 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Recruiting NCT03016715 Phase 2 Sirolimus 2%;Vehicle
34 Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT02323789 Phase 1, Phase 2 Mesenchymal stromal cells
35 Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT01263379 Phase 1, Phase 2
36 A Double-blind, Intra-individual Comparison, POC Trial of AC-203 in EB Patients Active, not recruiting NCT03468322 Phase 2 AC-203;Vehicle
37 Neurokinin-1 Receptor Antagonist for the Treatment of Itch in EB Patients Active, not recruiting NCT02654483 Phase 2 VPD-737
38 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Active, not recruiting NCT02960997 Phase 2 Sirolimus, 2%;Vehicle
39 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
40 Allogeneic ABCB5-positive Stem Cells for Treatment of Epidermolysis Bullosa Not yet recruiting NCT03529877 Phase 1, Phase 2
41 A Phase 1/2 Trial of PTR-01 in Adult Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Not yet recruiting NCT03752905 Phase 1, Phase 2 PTR-01;Normal saline
42 Rigosertib for RDEB-SCC Not yet recruiting NCT03786237 Phase 1, Phase 2 Rigosertib Oral Capsules / Rigosertib Oral Liquid Solution / Rigosertib Intravenous
43 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
44 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
45 A Pilot Study of HP802-247 in Dystrophic Epidermolysis Bullosa Withdrawn NCT01528306 Phase 2
46 Autologous Transplantation of Cultured Fibroblast on Amniotic Membrane in Patients With Epidermolysis Bullosa Completed NCT01908088 Phase 1
47 Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis Bullosa Completed NCT02493816 Phase 1 Gene-modified autologous fibroblasts
48 Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00014729 Phase 1 isotretinoin
49 Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin Completed NCT02592954 Phase 1 Jojoba oil with broccoli sprout extract;Jojoba oil (placebo)
50 Topical BPM31510 3.0% Cream in Patients With Epidermolysis Bullosa Recruiting NCT02793960 Phase 1 topical BPM31510 3.0% Cream

Search NIH Clinical Center for Epidermolysis Bullosa

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Skin, Testes, Bone, Bone Marrow, Lung, Breast, Kidney
Sources

Publications for Epidermolysis Bullosa

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Articles related to Epidermolysis Bullosa:

(show top 50) (show all 2633)
# Title Authors Year
1
Dominant dystrophic epidermolysis bullosa pruriginosa with a COL7A1 exon 87 c.6898C>T mutation. ( 30168161 )
2019
2
Utility of whole exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive Dystrophic Epidermolysis Bullosa in India - implications on diagnosis, prognosis and prenatal testing. ( 29512197 )
2018
3
Epidermolysis bullosa simplex generalized severe induces a Th17 response and is improved by Apremilast treatment. ( 29932457 )
2018
4
Successful Multidisciplinary Treatment of Chronic Facial Wounds in Junctional Epidermolysis Bullosa. ( 29963681 )
2018
5
Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa. ( 29504492 )
2018
6
Response to Modabber and Harissi-Dagher's Letter: "Type 1 Boston Keratoprosthesis for Limbal Stem Cell Deficiency in Epidermolysis Bullosa". ( 29648915 )
2018
7
Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico. ( 29473190 )
2018
8
An unusual cause of dysphagia in a child: Gastrointestinal manifestations of epidermolysis bullosa. ( 29923525 )
2018
9
Epidermolysis bullosa: management complexities for paediatric patients. ( 29944424 )
2018
10
To avoid a misleading genetic diagnosis of epidermolysis bullosa. ( 29330933 )
2018
11
Burnlike scars: A sign suggestive of KLHL24-related epidermolysis bullosa simplex. ( 29574966 )
2018
12
Letter to the Editor: Type 1 Boston Keratoprosthesis for Limbal Stem Cell Deficiency in Epidermolysis Bullosa. ( 29543561 )
2018
13
Collagen VII deficient mice show morphologic and histologic corneal changes that phenotypically mimic human dystrophic epidermolysis bullosa of the eye. ( 29920270 )
2018
14
Injury- and inflammation-driven skin fibrosis: The paradigm of epidermolysis bullosa. ( 29391280 )
2018
15
Response to 'Serological diagnostics in the detection of IgG autoantibodies against human collagen VII in epidermolysis bullosa acquisita: a multicentre analysis': reply from authors. ( 29322498 )
2018
16
Orf - a potential trigger for self-limiting epidermolysis bullosa acquisita-like blistering. ( 29441548 )
2018
17
Whole-Genome Expression Profiling in Skin Reveals SYK As a Key Regulator of Inflammation in Experimental Epidermolysis Bullosa Acquisita. ( 29497423 )
2018
18
Integra<sup>Ar</sup>-Dermal Regeneration Template and Split-Thickness Skin Grafting: A Therapy Approach to Correct Aplasia Cutis Congenita and Epidermolysis Bullosa in Carmi Syndrome. ( 29777447 )
2018
19
A novel PLEC nonsense homozygous mutation (c.7159Ga88&amp;gt;a88T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report. ( 29352809 )
2018
20
p.Glu477Lys mutation in keratin 5 is not necessarily mortal in generalized severe epidermolysis bullosa simplex. ( 29464779 )
2018
21
Case Report of a 21-Year-Old Man With Epidermolysis Bullosa Acquisita. ( 29865955 )
2018
22
Ophthalmologic Approach in Epidermolysis Bullosa: A Cross-Sectional Study With Phenotype-Genotype Correlations. ( 29384803 )
2018
23
Case report of two siblings with a novel homozygous mutation in COL7A1 leads to recessive dystrophic epidermolysis bullosa: which type? ( 29846190 )
2018
24
Self-initiated use of topical cannabidiol oil for epidermolysis bullosa. ( 29786144 )
2018
25
Palliative Sedation with Oral Medicines in an Infant with Generalized Severe Junctional Epidermolysis Bullosa. ( 29775550 )
2018
26
A multitask clustering approach for single-cell RNA-seq analysis in Recessive Dystrophic Epidermolysis Bullosa. ( 29630593 )
2018
27
Dilated Cardiomyopathy in a Child with Recessive Dystrophic Epidermolysis Bullosa. ( 29699768 )
2018
28
Clinical algorithm to manage anemia in epidermolysis bullosa. ( 29974505 )
2018
29
Impaired lymphoid extracellular matrix impedes antibacterial immunity in epidermolysis bullosa. ( 29305555 )
2018
30
Genotype-Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre. ( 29963685 )
2018
31
Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa. ( 29364557 )
2018
32
EB2017 - Progress in Epidermolysis Bullosa Research Towards Treatment and Cure. ( 29391251 )
2018
33
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa. ( 29334134 )
2018
34
Response to 'Serological diagnostics in the detection of IgG autoantibodies against human collagen VII in epidermolysis bullosa acquisita: a multicentre analysis'. ( 28977674 )
2018
35
Epidermal aspects of type VII collagen: Implications for dystrophic epidermolysis bullosa and epidermolysis bullosa acquisita. ( 29352483 )
2018
36
Efficacy of Human Placental-Derived Stem Cells in Collagen VII Knockout (Recessive Dystrophic Epidermolysis Bullosa) Animal Model. ( 29745997 )
2018
37
Reliability and Validity of iscorEB (Instrument for Scoring Clinical Outcomes of Research for Epidermolysis Bullosa). ( 29341069 )
2018
38
Five Novel <i>COL7A1</i> Gene Mutations in Three Chinese Patients with Recessive Dystrophic Epidermolysis Bullosa. ( 29531004 )
2018
39
Diacerein Orphan Drug Development for Epidermolysis Bullosa Simplex: A Phase 2/3 Randomized, Placebo-Controlled, Double-Blind Clinical Trial. ( 29410318 )
2018
40
Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial. ( 29500833 )
2018
41
First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru. ( 29427316 )
2018
42
Dual mechanism of type VII collagen transfer by bone marrow mesenchymal stem cell extracellular vesicles to recessive dystrophic epidermolysis bullosa fibroblasts. ( 29653141 )
2018
43
Severe phenotype of junctional epidermolysis bullosa generalised intermediate type caused by homozygous COL17A1:c.505C&amp;gt;T (p.Arg169*) mutation. ( 29952287 )
2018
44
Mild phenotype of junctional epidermolysis bullosa with pyloric atresia due to a novel mutation of the ITGB4 gene. ( 29380424 )
2018
45
Discrepancies in the evaluation of incapacity for work in a patient with epidermolysis bullosa acquisita between public pension fund and occupational medicine expert raise the issue of competencies. ( 29604201 )
2018
46
Endoscopic balloon dilation of oesophageal stenosis in a patient with recessive dystrophic epidermolysis bullosa. ( 29500068 )
2018
47
The clinical phenotype and a novel COL7A1 mutation in a Chinese family with dystrophic epidermolysis bullosa pruriginosa. ( 29512192 )
2018
48
Translating the combination of gene therapy and tissue engineering for treating recessive dystrophic epidermolysis bullosa. ( 29441510 )
2018
49
Intradermal injection of bone marrow-MSC corrects Recessive Dystrophic Epidermolysis Bullosa in a xenograft model. ( 29758284 )
2018
50
Gentamicin induces <i>LAMB3</i> nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa. ( 29946029 )
2018
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 34)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.73 COL17A1 COL7A1 DSP ITGA3 ITGA6 ITGB4
2
Integrin Pathway 64
Show member pathways
 13.26 COL17A1 COL7A1 ITGA3 ITGA6 ITGB4 LAMA3
3
Phospholipase-C Pathway 64
Show member pathways
 12.97 COL17A1 COL7A1 ITGA3 ITGA6 ITGB4 LAMA3
4
PI3K-Akt signaling pathway 37
Show member pathways
 12.89 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
5
Focal Adhesion 1 37
Show member pathways
 12.78 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
6
Pathways in cancer 37
12.73 ITGA3 ITGA6 LAMA3 LAMB3 LAMC2
7
Beta-Adrenergic Signaling 64
Show member pathways
 12.69 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
8
Cell junction organization 66
Show member pathways
 12.38 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
9
Collagen chain trimerization 66
Show member pathways
 12.33 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
10
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 37
Show member pathways
 12.32 DSP ITGA3 ITGA6 ITGB4
11
MET promotes cell motility 66
Show member pathways
 12.28 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
12
Toxoplasmosis 37
Show member pathways
 12.16 ITGA6 LAMA3 LAMB3 LAMC2
13
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 22
Show member pathways
 12.07 COL17A1 COL7A1 ITGA3 ITGA6 ITGB4 LAMA3
14
Dilated cardiomyopathy (DCM) 37
Show member pathways
 12.06 ITGA3 ITGA6 ITGB4
15
Blood-Brain Barrier Pathway: Anatomy 65
Show member pathways
 12.02 ITGA3 ITGA6 ITGB4 LAMA3
16
AKT Signaling Pathway 67
11.99 ITGA3 ITGA6 ITGB4
17
Degradation of the extracellular matrix 66
Show member pathways
 11.98 COL17A1 COL7A1 DST ITGA3 ITGA6 ITGB4
18
Adhesion 4
11.94 DSP ITGA6 ITGB4 PLEC
19
Cytoskeleton remodeling Neurofilaments 22
Show member pathways
 11.93 DSP DST KRT14 KRT5 PLEC
20
ECM-receptor interaction 37
Show member pathways
 11.91 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
21
Reelin Pathway (Cajal-Retzius cells) 64
11.82 ITGA3 ITGA6 ITGB4
22
Small cell lung cancer 37
11.8 ITGA3 ITGA6 LAMA3 LAMB3 LAMC2
23
Amoebiasis 37
11.79 LAMA3 LAMB3 LAMC2
24
Phagocytosis of Microbes 64
11.73 ITGA3 ITGA6 ITGB4
25
Non-integrin membrane-ECM interactions 66
Show member pathways
 11.63 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
26
Cell adhesion_ECM remodeling 22
11.56 LAMA3 LAMB3 LAMC2
27
G-protein signaling_Regulation of RAC1 activity 22
11.5 ITGA3 ITGA6 ITGB4
28
Cytoskeleton remodeling_RalA regulation pathway 22
11.38 ITGA3 ITGA6 ITGB4
29
Cell adhesion_Endothelial cell contacts by non-junctional mechanisms 22
11.36 ITGA3 ITGA6 ITGB4
30
a6b1 and a6b4 Integrin signaling 1
11.23 COL17A1 ITGA6 ITGB4
31
Validated transcriptional targets of AP1 family members Fra1 and Fra2 1
11.19 ITGB4 LAMA3
32
Basigin interactions 66
11.08 ITGA3 ITGA6
34
G-protein signaling_Rap2B regulation pathway 22
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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