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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 72 49 36 28 51 41 14 69
Acantholysis Bullosa 12
Eb 49

Classifications:

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


External Ids:

Disease Ontology 12 DOID:2730
ICD10 32 Q81 Q81.9
MeSH 41 D004820
NCIt 46 C67383
SNOMED-CT 64 205580008 61003004
KEGG 36 H01737
UMLS 69 C0014527
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Summaries for Epidermolysis Bullosa

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NIH Rare Diseases : 49 Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa:Dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool. Last updated: 10/14/2014

MalaCards based summary : Epidermolysis Bullosa, also known as acantholysis bullosa, is related to epidermolysis bullosa simplex, dowling-meara type and epidermolysis bullosa simplex, localized. An important gene associated with Epidermolysis Bullosa is COL7A1 (Collagen Type VII Alpha 1 Chain), 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, bone and testes, and related phenotypes are craniofacial and digestive/alimentary

Wikipedia : 72 Epidermolysis bullosa (EB) is a group of mainly inherited connective tissue diseases that cause blisters... 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 277)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex, dowling-meara type 34.6 KRT14 KRT5
2 epidermolysis bullosa simplex, localized 34.6 ITGB4 KRT14 KRT5
3 epidermolysis bullosa simplex, autosomal recessive 1 34.5 KRT14 KRT5
4 epidermolysis bullosa simplex, generalized 34.5 KLHL24 KRT14 KRT5
5 epidermolysis bullosa, junctional, herlitz type 34.4 LAMA3 LAMB3 LAMC2
6 epidermolysis bullosa simplex with pyloric atresia 34.3 ITGB4 PLEC
7 epidermolysis bullosa simplex with muscular dystrophy 34.1 COL17A1 DST PLEC
8 epidermolysis bullosa simplex with mottled pigmentation 34.1 EXPH5 KRT14 KRT5
9 epidermolysis bullosa with pyloric atresia 34.0 ITGA6 ITGB4 PLEC
10 epidermolysis bullosa dystrophica 33.9 COL7A1 DST
11 epidermolysis bullosa simplex 33.7 COL17A1 DST KRT14 KRT5 PLEC
12 epidermolysis bullosa acquisita 33.5 COL17A1 COL7A1 DST ITGB4 LAMA3
13 epidermolysis bullosa junctionalis with pyloric atresia 33.4 COL17A1 DST ITGA6 ITGB4 PLEC
14 kindler syndrome 32.8 COL7A1 DST ITGB4
15 junctional epidermolysis bullosa 32.6 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
16 epidermolysis bullosa, junctional, non-herlitz type 32.2 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
17 aplasia cutis congenita 30.7 COL7A1 ITGA6 ITGB4
18 pyloric atresia 30.6 COL17A1 ITGA6 ITGB4 LAMC2 PLEC
19 lichen planopilaris 30.2 COL17A1 KRT14 KRT5
20 linear iga disease 30.0 COL17A1 DST ITGB4
21 maternal uniparental disomy of chromosome 1 30.0 LAMA3 LAMB3 LAMC2
22 cicatricial pemphigoid 29.9 COL17A1 DST ITGB4 LAMA3 LAMC2
23 basal cell carcinoma 29.7 COL17A1 KRT14 KRT5 LAMC2
24 pemphigus 29.4 COL17A1 DSP DST
25 bullous pemphigoid 28.6 COL17A1 DSP DST ITGA6 ITGB4 LAMA3
26 skin disease 28.4 COL17A1 COL7A1 DST ITGB4 KRT14 KRT5
27 epidermolysis bullosa dystrophica, autosomal recessive 12.8
28 recessive dystrophic epidermolysis bullosa 12.8
29 epidermolysis bullosa dystrophica, pretibial 12.7
30 epidermolysis bullosa dystrophica, autosomal dominant 12.7
31 epidermolysis bullosa, lethal acantholytic 12.7
32 epidermolysis bullosa pruriginosa 12.7
33 epidermolysis bullosa simplex, ogna type 12.6
34 epidermolysis bullosa simplex with migratory circinate erythema 12.6
35 dominant dystrophic epidermolysis bullosa 12.6
36 recessive dystrophic epidermolysis bullosa-generalized other 12.6
37 epidermolysis bullosa simplex, autosomal recessive 2 12.5
38 epidermolysis bullosa, nonspecific, autosomal recessive 12.5
39 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 12.5
40 nephropathy with pretibial epidermolysis bullosa and deafness 12.4
41 epidermolysis bullosa simplex, generalized, with scarring and hair loss 12.4
42 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 12.4
43 epidermolysis bullosa with congenital localized absence of skin and deformity of nails 12.4
44 epidermolysis bullosa simplex with nail dystrophy 12.4
45 epidermolysis bullosa simplex superficialis 12.3
46 late-onset junctional epidermolysis bullosa 12.3
47 transient bullous dermolysis of the newborn 12.3
48 centripetalis recessive dystrophic epidermolysis bullosa 12.2
49 epidermolysis bullosa, late-onset localized junctional, with mental retardation 12.2
50 epidermolysis bullosa simplex with anodontia/hypodontia 12.2

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.02 ITGA6 LAMB3 ITGB4 LAMC2 KRT14 COL7A1
2 digestive/alimentary MP:0005381 10.02 ITGA6 LAMB3 ITGB4 LAMC2 KRT14 COL7A1
3 growth/size/body region MP:0005378 10 LAMA3 ITGA6 LAMB3 ITGB4 LAMC2 KRT14
4 integument MP:0010771 9.9 ITGA6 LAMB3 ITGB4 LAMC2 KRT14 COL7A1
5 mortality/aging MP:0010768 9.7 ITGA3 LAMA3 ITGA6 LAMB3 ITGB4 LAMC2
6 respiratory system MP:0005388 9.17 ITGA3 LAMA3 ITGA6 LAMB3 ITGB4 LAMC2
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 102)
# 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
4 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
5 Peripheral Nervous System Agents Phase 4,Phase 2
6 Analgesics Phase 4
7 Analgesics, Opioid Phase 4
8 Central Nervous System Depressants Phase 4
9 Narcotics Phase 4
10
Erythromycin Approved, Investigational, Vet_approved Phase 3 114-07-8 12560
11 Erythromycin Estolate Phase 3
12 Erythromycin Ethylsuccinate Phase 3
13 Erythromycin stearate Phase 3
14 Gastrointestinal Agents Phase 3
15 Sunflower Nutraceutical Phase 3
16
Acetylcholine Approved Phase 2 51-84-3 187
17
Fludarabine Approved Phase 2,Early Phase 1 21679-14-1, 75607-67-9 30751
18
Tacrolimus Approved, Investigational Phase 2,Early Phase 1 104987-11-3 445643 439492
19
Trimethoprim Approved, Vet_approved Phase 2 738-70-5 5578
20
Lenograstim Approved, Investigational Phase 2 135968-09-1
21
Methoxsalen Approved Phase 2 298-81-7 4114
22
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
23
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
24
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
25
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
26
Mycophenolic acid Approved Phase 2 24280-93-1 446541
27
Mesna Approved, Investigational Phase 2 3375-50-6 598
28
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
29
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
30
Everolimus Approved Phase 2 159351-69-6 6442177
31
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
32
Allantoin Approved, Nutraceutical Phase 2 97-59-6 204
33
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
34
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
35 tannic acid Approved, Nutraceutical Phase 2
36
Epigallocatechin gallate Investigational Phase 2 989-51-5 65064
37 Serlopitant Investigational Phase 2 860642-69-9
38
Substance P Investigational Phase 2 33507-63-0 44359816
39
Imidacloprid Vet_approved Phase 1, Phase 2 105827-78-9 86418
40 abobotulinumtoxinA Phase 2
41 Anesthetics Phase 2,Phase 1
42 Botulinum Toxins Phase 2
43 Botulinum Toxins, Type A Phase 2
44 Cholinergic Agents Phase 2
45 Neuromuscular Agents Phase 2
46 Neurotransmitter Agents Phase 2
47 onabotulinumtoxinA Phase 2
48 Pharmaceutical Solutions Phase 2
49 Dermatologic Agents Phase 2,Phase 1
50 Antimalarials Phase 2

Interventional clinical trials:

(show top 50) (show all 65)

# 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 Patients With Epidermolysis Bullosa Completed NCT02384460 Phase 3 SD-101-6.0 cream;SD-101-0.0 cream
6 Phase III Efficacy and Safety Study of Oleogel-S10 in Epidermolysis Bullosa Recruiting NCT03068780 Phase 3 Oleogel-S10;Placebo
7 A Comparative Study of the Healing of Chronic Ulcers of Recessive Epidermolysis Bullosa : Dressing vs Amniotic Membrane Recruiting NCT02286427 Phase 3
8 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
9 Safety and Efficacy of Apligraf in Nonhealing Wounds of Subjects With Junctional or Dystrophic Epidermolysis Bullosa (EB) Terminated NCT00587223 Phase 3
10 Diacerin for the Treatment of Epidermolysis Bullosa Simplex Unknown status NCT02470689 Phase 2 Diacerin cream
11 Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita Unknown status NCT00936533 Phase 2 Dysport® (Botulinumtoxin A (Btx A));Placebo
12 Study of Alwextin® Cream in Treating Epidermolysis Bullosa Completed NCT00825565 Phase 2 Alwextin cream
13 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)
14 Oleogel-S10 in Wound Healing of Inherited Epidermolysis Bullosa (BEB-10) Completed NCT01294241 Phase 2 Oleogel-S10
15 The Efficacy of Trimethoprim in Wound Healing of Patients With Epidermolysis Bullosa Completed NCT00380640 Phase 2 Trimethoprim;Trimethoprim
16 Efficacy of Granulocyte Colony Stimulating Factor (GCSF) In Patients With Dystrophic Epidermolysis Bullosa Completed NCT01538862 Phase 2 Granulocyte Colony Stimulating Factor (GCSF)
17 Treatment of Epidermolysis Bullosa Dystrophica by Polyphenon E (Epigallocatechin 3 Gallate) Completed NCT00951964 Phase 2 Polyphenon E before Placebo;placebo before treatment
18 Phase II Pilot Study of Extracorporeal Phototherapy for Epidermolysis Bullosa Acquisita Completed NCT00004359 Phase 2 methoxsalen
19 Trial To Assess Efficacy Of A Chimeric Skin In Patients With Epidermolysys Bullosa Completed NCT00987142 Phase 2 CX501
20 Study to Evaluate the Safety of ALLO-ASC-DFU in the Subjects With Dystrophic Epidermolysis Bullosa Recruiting NCT02579369 Phase 1, Phase 2
21 Safety and Efficacy of Diacerein 1% Ointment Topical Formulation Compared to Placebo for Subjects With Epidermolysis Bullosa Simplex (EBS) Recruiting NCT03154333 Phase 2 Diacerein 1% Ointment Topical Formulation;Vehicle
22 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa Patients With Nonsense Mutations Recruiting NCT03012191 Phase 1, Phase 2 Gentamicin Sulfate
23 A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT02810951 Phase 1, Phase 2 Sterile Saline
24 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
25 MT2015-20: Biochemical Correction of Severe EB by Allo HSCT and Serial Donor MSCs Recruiting NCT02582775 Phase 2 Thymoglobulin;Cyclophosphamide;Fludarabine;Tacrolimus;Mycophenolate Mofetil
26 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)
27 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Recruiting NCT03016715 Phase 2 Sirolimus 2%;Vehicle
28 Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT02323789 Phase 1, Phase 2 Mesenchymal stromal cells
29 Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT01263379 Phase 1, Phase 2
30 Neurokinin-1 Receptor Antagonist for the Treatment of Itch in EB Patients Active, not recruiting NCT02654483 Phase 2 VPD-737
31 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Active, not recruiting NCT02960997 Phase 2 Sirolimus, 2%;Vehicle
32 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
33 Intravenous Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Not yet recruiting NCT03392909 Phase 1, Phase 2 Gentamicin
34 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
35 A Pilot Study of HP802-247 in Dystrophic Epidermolysis Bullosa Withdrawn NCT01528306 Phase 2
36 Autologous Transplantation of Cultured Fibroblast on Amniotic Membrane in Patients With Epidermolysis Bullosa Completed NCT01908088 Phase 1
37 Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00014729 Phase 1 isotretinoin
38 Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin Completed NCT02592954 Phase 1 Jojoba oil with broccoli sprout extract;Jojoba oil (placebo)
39 Topical BPM31510 3.0% Cream in Patients With Epidermolysis Bullosa Recruiting NCT02793960 Phase 1 topical BPM31510 3.0% Cream
40 Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT02493816 Phase 1 Gene-modified autologous fibroblasts
41 Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa Unknown status NCT01019148
42 Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT01874769
43 Allogeneic Stem Cell Transplantation (ALLOSCT) in Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT00881556 Early Phase 1 Reduced Intensity Transplant conditioning
44 Study of Inflammatory Mechanisms in Epidermolysis Bullosa Simplex- Dowling Meara Completed NCT01556308
45 Treatment of Chronic and Non-Chronic Wounds in Patients With Recessive Dystrophic Epidermolysis Bullosa Using Helicoll Collagen Dressings Versus Standard of Care Completed NCT01716169
46 Characteristics of Adult Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00904163
47 Survey to Identify Burdens and Unmet Needs of Patients With Epidermolysis Bullosa Completed NCT03158662
48 Proof of Concept Study for a Dressing Glove Completed NCT03241628
49 Establishment of the National Epidermolysis Bullosa Registry Completed NCT00004761
50 Short Term Observational Study in DEB Patients Completed NCT02178969

Search NIH Clinical Center for Epidermolysis Bullosa

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: epidermolysis bullosa

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Genetic Tests for Epidermolysis Bullosa

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Genetic tests related to Epidermolysis Bullosa:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa 28
Sources

Anatomical Context for Epidermolysis Bullosa

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MalaCards organs/tissues related to Epidermolysis Bullosa:

38
Skin, Bone, Testes, Bone Marrow, Neutrophil, Colon, Endothelial
Sources

Publications for Epidermolysis Bullosa

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Articles related to Epidermolysis Bullosa:

(show top 50) (show all 2179)
# Title Authors Year
1
Orf - a potential trigger for self-limiting epidermolysis bullosa acquisita-like blistering. ( 29441548 )
2018
2
Mild phenotype of junctional epidermolysis bullosa with pyloric atresia due to a novel mutation of the ITGB4 gene. ( 29380424 )
2018
3
Ophthalmologic Approach in Epidermolysis Bullosa: A Cross-Sectional Study With Phenotype-Genotype Correlations. ( 29384803 )
2018
4
Translating the combination of gene therapy and tissue engineering for treating recessive dystrophic epidermolysis bullosa. ( 29441510 )
2018
5
Epidermal aspects of type VII collagen: Implications for dystrophic epidermolysis bullosa and epidermolysis bullosa acquisita. ( 29352483 )
2018
6
Impaired lymphoid extracellular matrix impedes antibacterial immunity in epidermolysis bullosa. ( 29305555 )
2018
7
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa. ( 29334134 )
2018
8
Cultured allogeneic fibroblast injection versus fibroblasts cultured on amniotic membrane scaffold for dystrophic epidermolysis bullosa treatment. ( 29330848 )
2018
9
Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa. ( 29364557 )
2018
10
A novel PLEC nonsense homozygous mutation (c.7159Ga88>a88T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report. ( 29352809 )
2018
11
EB2017 - Progress in Epidermolysis Bullosa Research Towards Treatment and Cure. ( 29391251 )
2018
12
Reliability and Validity of iscorEB (Instrument for Scoring Clinical Outcomes of Research for Epidermolysis Bullosa). ( 29341069 )
2018
13
Response to 'Serological diagnostics in the detection of IgG autoantibodies against human collagen VII in epidermolysis bullosa acquisita: a multicentre analysis'. ( 28977674 )
2018
14
A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation. ( 29198538 )
2018
15
First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru. ( 29427316 )
2018
16
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
17
To avoid a misleading genetic diagnosis of epidermolysis bullosa. ( 29330933 )
2018
18
Injury- and inflammation-driven skin fibrosis: The paradigm of epidermolysis bullosa. ( 29391280 )
2018
19
Diacerein Orphan Drug Development for Epidermolysis Bullosa Simplex: A Phase 2/3 Randomized, Placebo-Controlled, Double-Blind Clinical Trial. ( 29410318 )
2018
20
Human Orf complicated by Epidermolysis Bullosa Acquisita. ( 28338219 )
2017
21
Health literacy in patients with epidermolysis bullosa in Iran. ( 29296606 )
2017
22
Monoallelic Large Intragenic KRT5 Deletions Account for Genetically Unsolved Cases of Epidermolysis Bullosa Simplex. ( 28576738 )
2017
23
Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex. ( 28659151 )
2017
24
Signalling and targeted therapy of inflammatory cells in epidermolysis bullosa acquisita. ( 28266741 )
2017
25
A rare occurrence of epidermolysis bullosa acquisita in a patient with retroviral disease. ( 28632473 )
2017
26
Large deletions targeting the triple-helical domain of collagen VII lead to mild acral dominant dystrophic epidermolysis bullosa. ( 29179948 )
2017
27
Threonine 150 Phosphorylation of Keratin 5 Is Linked to Epidermolysis Bullosa Simplex and Regulates Filament Assembly and Cell Viability. ( 29080682 )
2017
28
Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa. ( 28357176 )
2017
29
Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy. ( 29138120 )
2017
30
Minimally invasive endoscopic treatment for pediatric combined high grade stenosis as a laryngeal manifestation of epidermolysis bullosa. ( 28012513 )
2017
31
Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4. ( 28557647 )
2017
32
Epidermolysis Bullosa Acquisita (Brunsting-Perry Pemphigoid Variant) Localized to the Face and Diagnosed With Antigen Identification Using Skin Deficient in Type VII Collagen. ( 28452792 )
2017
33
Efficacy of intravenous immunoglobulins for the treatment of mucous membrane pemphigoid-like epidermolysis bullosa acquisita. ( 29084648 )
2017
34
A Novel COL7A1 Mutation in a Chinese Family with Epidermolysis Bullosa Pruriginosa. ( 28164502 )
2017
35
Autosomal recessive epidermolysis bullosa simplex: report of three cases from India. ( 28925504 )
2017
36
Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs. ( 28493971 )
2017
37
Loss of interaction between plectin and type XVII collagen results in epidermolysis bullosa simplex. ( 28941359 )
2017
38
Epidermolysis Bullosa Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations. ( 29182795 )
2017
39
Oral manifestations as the main feature of late-onset recessive dystrophic epidermolysis bullosa. ( 29080321 )
2017
40
Successful Placement of a BAHA Implant in a Patient With Epidermolysis Bullosa: A Case Report and Review of the Literature. ( 28895441 )
2017
41
Autosomal recessive epidermolysis bullosa simplex due to KRT14 mutation: two large Palestinian families and literature review. ( 29024068 )
2017
42
Validity and Accuracy of a Mobile Phone Application for the Assessment of Wounds in Recessive Dystrophic Epidermolysis Bullosa. ( 29146128 )
2017
43
Serological diagnostics in the detection of IgG autoantibodies against human collagen VII in epidermolysis bullosa acquisita - a multicenter analysis. ( 28703393 )
2017
44
High concordance between clinical diagnosis of epidermolysis bullosa and immunofluorescence with a small, well-matched antibody panel. ( 28707324 )
2017
45
Pro-Inflammatory Chemokines and Cytokines Dominate the Blister Fluid Molecular Signature in Patients with Epidermolysis Bullosa and Affect Leukocyte and Stem Cell Migration. ( 28736230 )
2017
46
Wound healing in epidermolysis bullosa. ( 28718937 )
2017
47
Distinguishing Epidermolysis Bullosa Acquisita From Bullous Pemphigoid Without Direct Immunofluorescence. ( 28719980 )
2017
48
The Syk Tyrosine Kinase Is Required for Skin Inflammation in an InA Vivo Mouse Model ofA Epidermolysis Bullosa Acquisita. ( 28576735 )
2017
49
Case of epidermolysis bullosa acquisita with concomitant anti-laminin-332 antibodies. ( 29205468 )
2017
50
Traceless Targeting and Isolation of Gene-Edited Immortalized Keratinocytes from Epidermolysis Bullosa Simplex Patients. ( 28765827 )
2017
Sources

Variations for Epidermolysis Bullosa

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Sources

Expression for Epidermolysis Bullosa

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

Pathways for Epidermolysis Bullosa

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

(show all 30)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 60
Show member pathways
 13.71 COL17A1 COL7A1 DSP ITGA3 ITGA6 ITGB4
2
Integrin Pathway 60
Show member pathways
 13.25 COL17A1 COL7A1 ITGA3 ITGA6 ITGB4 LAMA3
3
Phospholipase-C Pathway 60
Show member pathways
 12.99 COL17A1 COL7A1 ITGA3 ITGA6 ITGB4 LAMA3
4
PI3K-Akt signaling pathway 36
Show member pathways
 12.88 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
5
Focal Adhesion 1 36
Show member pathways
 12.79 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
6
Pathways in cancer 36
12.73 ITGA3 ITGA6 LAMA3 LAMB3 LAMC2
7
Beta-Adrenergic Signaling 60
Show member pathways
 12.7 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
8
Cell junction organization 62
Show member pathways
 12.38 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
9
Collagen chain trimerization 62
Show member pathways
 12.33 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
10
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 36
Show member pathways
 12.32 DSP ITGA3 ITGA6 ITGB4
11
MET promotes cell motility 62
Show member pathways
 12.28 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
12
Toxoplasmosis 36
Show member pathways
 12.17 ITGA6 LAMA3 LAMB3 LAMC2
13
Dilated cardiomyopathy (DCM) 36
Show member pathways
 12.06 ITGA3 ITGA6 ITGB4
14
Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview 61
Show member pathways
 12.02 ITGA3 ITGA6 ITGB4 LAMA3
15
Degradation of the extracellular matrix 62
Show member pathways
 11.98 COL17A1 COL7A1 DST ITGA3 ITGA6 ITGB4
16
ECM-receptor interaction 36
Show member pathways
 11.97 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
17
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 21
Show member pathways
 11.96 COL17A1 COL7A1 ITGA3 ITGA6 ITGB4 LAMA3
18
Adhesion 4
11.92 DSP ITGA6 ITGB4 PLEC
19
Cytoskeleton remodeling Neurofilaments 21
Show member pathways
 11.91 DSP DST KRT14 KRT5 PLEC
20
Reelin Pathway (Cajal-Retzius cells) 60
11.82 ITGA3 ITGA6 ITGB4
21
Small cell lung cancer 36
11.8 ITGA3 ITGA6 LAMA3 LAMB3 LAMC2
22
Amoebiasis 36
11.79 LAMA3 LAMB3 LAMC2
23
Phagocytosis of Microbes 60
11.73 ITGA3 ITGA6 ITGB4
24
Non-integrin membrane-ECM interactions 62
Show member pathways
 11.63 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
25
Cell adhesion_ECM remodeling 21
11.57 LAMA3 LAMB3 LAMC2
26
Cell adhesion_Endothelial cell contacts by non-junctional mechanisms 21
11.36 ITGA3 ITGA6 ITGB4
27
a6b1 and a6b4 Integrin signaling 1
11.23 COL17A1 ITGA6 ITGB4
28
Basigin interactions 62
11.07 ITGA3 ITGA6
30
G-protein signaling_Rap2B regulation pathway 21
10.87 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 13)
# Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.78 DST ITGA3 ITGA6 PLEC
2 extracellular matrix GO:0031012 9.76 COL7A1 DSP LAMA3 PLEC
3 proteinaceous extracellular matrix GO:0005578 9.72 COL17A1 COL7A1 LAMA3 LAMB3 LAMC2
4 intermediate filament GO:0005882 9.71 DSP DST KRT14 KRT5
5 cell junction GO:0030054 9.7 COL17A1 DSP DST ITGA3 ITGB4 KLHL24
6 basal plasma membrane GO:0009925 9.52 DST ITGA6
7 basement membrane GO:0005604 9.5 COL17A1 COL7A1 DST ITGA6 LAMA3 LAMB3
8 desmosome GO:0030057 9.49 DSP KLHL24
9 basal part of cell GO:0045178 9.43 ITGA6 KRT14
10 integrin complex GO:0008305 9.43 ITGA3 ITGA6 ITGB4
11 laminin-5 complex GO:0005610 9.37 LAMA3 LAMB3
12 hemidesmosome GO:0030056 9.02 COL17A1 DST ITGA6 ITGB4 PLEC
13 extracellular exosome GO:0070062 10.11 DSP DST ITGA3 ITGB4 KRT14 KRT5

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.86 COL7A1 DST ITGA3 ITGA6 ITGB4 LAMA3
2 cell-matrix adhesion GO:0007160 9.71 COL17A1 ITGA3 ITGA6 ITGB4
3 cornification GO:0070268 9.7 DSP KRT14 KRT5
4 extracellular matrix organization GO:0030198 9.7 COL7A1 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3
5 extracellular matrix disassembly GO:0022617 9.67 LAMA3 LAMB3 LAMC2
6 integrin-mediated signaling pathway GO:0007229 9.67 DST ITGA3 ITGA6 ITGB4
7 skin development GO:0043588 9.62 DSP ITGA3 ITGA6 ITGB4
8 endodermal cell differentiation GO:0035987 9.61 COL7A1 LAMA3 LAMB3
9 brown fat cell differentiation GO:0050873 9.58 ITGA6 LAMB3
10 cell motility GO:0048870 9.57 DST ITGB4
11 renal system development GO:0072001 9.56 ITGA6 ITGB4
12 epidermis development GO:0008544 9.56 COL17A1 COL7A1 DSP KRT14 KRT5 LAMA3
13 intermediate filament cytoskeleton organization GO:0045104 9.55 DSP DST
14 intermediate filament organization GO:0045109 9.54 DSP KLHL24
15 mesodermal cell differentiation GO:0048333 9.51 ITGA3 ITGB4
16 amelogenesis GO:0097186 9.48 ITGA6 ITGB4
17 nail development GO:0035878 9.46 ITGA6 ITGB4
18 hemidesmosome assembly GO:0031581 9.28 COL17A1 ITGA6 ITGB4 KRT14 KRT5 LAMA3

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.43 DST ITGA3 ITGA6
2 structural constituent of cytoskeleton GO:0005200 9.33 DSP KRT14 KRT5
3 laminin binding GO:0043236 9.32 ITGA3 ITGA6
4 insulin-like growth factor I binding GO:0031994 8.96 ITGA6 ITGB4
5 neuregulin binding GO:0038132 8.62 ITGA6 ITGB4
Sources

Sources for Epidermolysis Bullosa

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 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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