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EB
MCID: EPD016
MIFTS: 57

Epidermolysis Bullosa (EB) malady

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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Aliases & Descriptions for Epidermolysis Bullosa:

Name: Epidermolysis Bullosa 12 50 29 52 42 14 69
Acantholysis Bullosa 12
Eb 50

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 42 D004820
NCIt 47 C67383
SNOMED-CT 64 205580008 61003004
UMLS 69 C0014527
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Summaries for Epidermolysis Bullosa

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NIH Rare Diseases : 50 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, junctional, non-herlitz type and epidermolysis bullosa simplex with nail dystrophy. 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 : 71 Epidermolysis bullosa (EB) is a group of inherited connective tissue diseases that cause blisters in the... 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 255)
id Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa, junctional, non-herlitz type 34.1 LAMA3 LAMB3 LAMC2
2 epidermolysis bullosa simplex with nail dystrophy 33.8 ITGB4 PLEC
3 epidermylysis bullosa simplex-mcr 33.4 KRT14 KRT5
4 darier disease 29.9 ITGB4 KRT14 KRT5
5 epidermolysis bullosa dystrophica 12.7
6 epidermolysis bullosa simplex 12.7
7 recessive dystrophic epidermolysis bullosa 12.7
8 epidermolysis bullosa simplex, dowling-meara type 12.7
9 epidermolysis bullosa dystrophica, ar 12.6
10 epidermolysis bullosa acquisita 12.6
11 epidermolysis bullosa simplex, weber-cockayne type 12.6
12 epidermolysis bullosa, junctional, herlitz type 12.6
13 junctional epidermolysis bullosa 12.6
14 epidermolysis bullosa simplex, koebner type 12.6
15 epidermolysis bullosa simplex with muscular dystrophy 12.6
16 epidermolysis bullosa pruriginosa 12.6
17 epidermolysis bullosa, junctional, with pyloric stenosis 12.6
18 epidermolysis bullosa, pretibial 12.5
19 dominant dystrophic epidermolysis bullosa 12.5
20 epidermolysis bullosa simplex, ogna type 12.5
21 epidermolysis bullosa simplex-mp 12.5
22 epidermolysis bullosa, lethal acantholytic 12.5
23 epidermolysis bullosa dystrophica, ad 12.4
24 epidermolysis bullosa with pyloric atresia 12.4
25 epidermolysis bullosa simplex, sutosomal recessive 2 12.4
26 epidermolysis bullosa simplex, recessive 1 12.4
27 epidermolysis bullosa, nonspecific, autosomal recessive 12.4
28 epidermolysis bullosa simplex with pyloric atresia 12.4
29 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 12.3
30 nephropathy with pretibial epidermolysis bullosa and deafness 12.3
31 recessive dystrophic epidermolysis bullosa-generalized other 12.3
32 epidermolysis bullosa simplex superficialis 12.2
33 late-onset junctional epidermolysis bullosa 12.2
34 epidermolysis bullosa, late-onset localized junctional, with mental retardation 12.1
35 centripetalis recessive dystrophic epidermolysis bullosa 12.1
36 epidermolysis bullosa simplex with anodontia/hypodontia 12.1
37 junctional epidermolysis bullosa inversa 12.1
38 dystrophic epidermolysis bullosa, nails only 12.0
39 acral dystrophic epidermolysis bullosa 12.0
40 col17a1-related junctional epidermolysis bullosa 12.0
41 epidermolysis bullosa simplex, other generalized 11.9
42 itgb4-related epidermolysis bullosa with pyloric atresia 11.9
43 lama3-related junctional epidermolysis bullosa 11.9
44 lamb3-related junctional epidermolysis bullosa 11.9
45 lamc2-related junctional epidermolysis bullosa 11.9
46 recessive dystrophic epidermolysis bullosa, generalized, severe, modifier of 11.9
47 transient bullous of the newborn 11.9
48 itga6-related epidermolysis bullosa with pyloric atresia 11.9
49 plec-related epidermolysis bullosa with pyloric atresia 11.9
50 localized junctional epidermolysis bullosa, non-herlitz type 11.9

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.02 LAMA3 LAMB3 LAMC2 COL7A1 DSP ITGA6
2 digestive/alimentary MP:0005381 9.97 COL7A1 DSP ITGA6 ITGB4 KRT14 KRT5
3 growth/size/body region MP:0005378 9.96 LAMB3 LAMC2 PLEC COL7A1 DSP ITGA6
4 integument MP:0010771 9.85 COL7A1 DSP ITGA6 ITGB4 KRT14 KRT5
5 mortality/aging MP:0010768 9.65 COL7A1 DSP ITGA6 ITGB4 KRT14 KRT5
6 respiratory system MP:0005388 9.1 ITGA6 ITGB4 KRT14 LAMA3 LAMB3 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 99)
id 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 Peripheral Nervous System Agents Phase 4,Phase 2
4 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
5 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
6 Analgesics Phase 4
7 Narcotics Phase 4
8 Analgesics, Opioid Phase 4
9 Central Nervous System Depressants Phase 4
10
Erythromycin Approved, Vet_approved Phase 3 114-07-8 12560
11 Gastrointestinal Agents Phase 3
12 Erythromycin Estolate Phase 3
13 Erythromycin Ethylsuccinate Phase 3
14 Erythromycin stearate Phase 3
15 Sunflower Nutraceutical Phase 3
16
Tacrolimus Approved, Investigational Phase 2,Early Phase 1 104987-11-3 445643 439492
17
Fludarabine Approved Phase 2,Early Phase 1 21679-14-1, 75607-67-9 30751
18
Acetylcholine Approved Phase 2 51-84-3 187
19
Lenograstim Approved Phase 2 135968-09-1
20
Trimethoprim Approved, Vet_approved Phase 2 738-70-5 5578
21
Methoxsalen Approved Phase 2 298-81-7 4114
22
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
23
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
24
Mycophenolic acid Approved Phase 2 24280-93-1 446541
25
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
26
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
27
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
28
Mesna Approved Phase 2 3375-50-6 598
29
Everolimus Approved Phase 2 159351-69-6 6442177
30
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
31
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
32
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
33
leucovorin Approved, Nutraceutical Phase 2 58-05-9 54575, 6560146 143
34
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
35 tannic acid Approved, Nutraceutical Phase 2
36
Substance P Investigational Phase 2 33507-63-0 44359816
37 Cholinergic Agents Phase 2
38 Neuromuscular Agents Phase 2
39 Neurotransmitter Agents Phase 2
40 Anesthetics Phase 2,Phase 1
41 Pharmaceutical Solutions Phase 2
42 abobotulinumtoxinA Phase 2
43 incobotulinumtoxinA Phase 2
44 onabotulinumtoxinA Phase 2
45 Botulinum Toxins Phase 2
46 Botulinum Toxins, Type A Phase 2
47 Adjuvants, Immunologic Phase 2
48 Folic Acid Antagonists Phase 2
49 Neuroprotective Agents Phase 2
50 Cytochrome P-450 Enzyme Inhibitors Phase 2

Interventional clinical trials:

(show top 50) (show all 60)
id Name Status NCT ID Phase
1 Randomised Double Blind Crossover Placebo Controlled Study to Evaluate the Efficacy of Tetracycline in Epidermolysis Bullosa Unknown status NCT00336154 Phase 4
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
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
5 Phase III Efficacy and Safety Study of Oleogel-S10 in Epidermolysis Bullosa Recruiting NCT03068780 Phase 3
6 A Comparative Study of the Healing of Chronic Ulcers of Recessive Epidermolysis Bullosa : Dressing vs Amniotic Membrane Recruiting NCT02286427 Phase 3
7 ESSENCE Study: Efficacy and Safety of SD-101 Cream in Patients With Epidermolysis Bullosa Active, not recruiting NCT02384460 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 Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita Unknown status NCT00936533 Phase 2
11 Study of Alwextin® Cream in Treating Epidermolysis Bullosa Completed NCT00825565 Phase 2
12 Case Series Documentation of Patients With Epidermolysis Bullosa Completed NCT01294241 Phase 2
13 The Efficacy of Trimethoprim in Wound Healing of Patients With Epidermolysis Bullosa Completed NCT00380640 Phase 2
14 Study of Effectiveness and Safety of SD-101 in Subjects With Epidermolysis Bullosa Completed NCT02014376 Phase 2
15 Treatment of Epidermolysis Bullosa Dystrophica by Polyphenon E (Epigallocatechin 3 Gallate) Completed NCT00951964 Phase 2
16 Efficacy of Granulocyte Colony Stimulating Factor (GCSF) In Patients With Dystrophic Epidermolysis Bullosa Completed NCT01538862 Phase 2
17 Phase II Pilot Study of Extracorporeal Phototherapy for Epidermolysis Bullosa Acquisita Completed NCT00004359 Phase 2
18 Trial To Assess Efficacy Of A Chimeric Skin In Patients With Epidermolysys Bullosa Completed NCT00987142 Phase 2
19 Study to Evaluate the Safety of ALLO-ASC-DFU in the Subjects With Dystrophic Epidermolysis Bullosa Recruiting NCT02579369 Phase 1, Phase 2
20 Stem Cell Transplant for Epidermolysis Bullosa Recruiting NCT01033552 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
22 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa Patients With Nonsense Mutations Recruiting NCT03012191 Phase 1, Phase 2
23 Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa Recruiting NCT01263379 Phase 1, Phase 2
24 MT2015-20: Biochemical Correction of Severe EB by Allo HSCT and Serial Donor MSCs Recruiting NCT02582775 Phase 2
25 A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT02810951 Phase 1, Phase 2
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
27 Neurokinin-1 Receptor Antagonist for the Treatment of Itch in EB Patients Recruiting NCT02654483 Phase 2
28 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Recruiting NCT02960997 Phase 2
29 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Recruiting NCT03016715 Phase 2
30 Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT02323789 Phase 1, Phase 2
31 Diacerin for the Treatment of Epidermolysis Bullosa Simplex Not yet recruiting NCT02470689 Phase 2
32 A Phase 2 Study on Effect of Thymosin Beta 4 on Wound Healing in Patients With Epidermolysis Bullosa Terminated NCT00311766 Phase 2
33 A Pilot Study of HP802-247 in Dystrophic Epidermolysis Bullosa Withdrawn NCT01528306 Phase 2
34 Autologous Transplantation of Cultured Fibroblast on Amniotic Membrane in Patients With Epidermolysis Bullosa Completed NCT01908088 Phase 1
35 Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00014729 Phase 1
36 Topical BPM31510 3.0% Cream in Patients With Epidermolysis Bullosa Recruiting NCT02793960 Phase 1
37 Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis Bullosa Recruiting NCT02493816 Phase 1
38 Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin Recruiting NCT02592954 Phase 1
39 Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT01874769
40 Allogeneic Stem Cell Transplantation (ALLOSCT) in Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT00881556 Early Phase 1
41 Study of Inflammatory Mechanisms in Epidermolysis Bullosa Simplex- Dowling Meara Completed NCT01556308
42 Characteristics of Adult Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00904163
43 Treatment of Chronic and Non-Chronic Wounds in Patients With Recessive Dystrophic Epidermolysis Bullosa Using Helicoll Collagen Dressings Versus Standard of Care Completed NCT01716169
44 Establishment of the National Epidermolysis Bullosa Registry Completed NCT00004761
45 Study of the Nutritional, Metabolic, and Body Composition Profile in Children and Adolescents With Epidermolysis Bullosa Completed NCT00004791
46 Short Term Observational Study in DEB Patients Completed NCT02178969
47 Study of Scaling Disorders and Other Inherited Skin Diseases Completed NCT00001292
48 Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa Recruiting NCT01019148
49 Survey to Identify Burdens and Unmet Needs of Patients With Epidermolysis Bullosa Recruiting NCT03158662
50 Study of Cellutome System for Treatment of Individual Lesions in EB Pts Recruiting NCT02670837

Search NIH Clinical Center for Epidermolysis Bullosa

Inferred drug relations via UMLS 69 / NDF-RT 48 :


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:

id Genetic test Affiliating Genes
1 Epidermolysis Bullosa 29
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Anatomical Context for Epidermolysis Bullosa

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MalaCards organs/tissues related to Epidermolysis Bullosa:

39
Skin, Bone, Testes, Bone Marrow, Colon, T Cells, Lymph Node
Sources

Publications for Epidermolysis Bullosa

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Articles related to Epidermolysis Bullosa:

(show top 50) (show all 2088)
id Title Authors Year
1
A Novel COL7A1 Mutation in a Chinese Family with Epidermolysis Bullosa Pruriginosa. ( 28164502 )
2017
2
Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement. ( 27813154 )
2017
3
Minimally invasive endoscopic treatment for pediatric combined high grade stenosis as a laryngeal manifestation of epidermolysis bullosa. ( 28012513 )
2017
4
Epidermolysis bullosa House Austria and Epidermolysis bullosa clinical network : Example of a centre of expertise implemented in a European reference network to face the burden of a rare disease. ( 27909793 )
2017
5
Persistent elevation of serum interleukin-6 and serum amyloid A levels in patients with recessive dystrophic epidermolysis bullosa. ( 27777188 )
2016
6
Diagnosis, treatment and management of epidermolysis bullosa. ( 27126750 )
2016
7
Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India. ( 28087116 )
2016
8
Topical timolol for chronic wounds in patients with junctional epidermolysis bullosa. ( 27846969 )
2016
9
Childhood Epidermolysis Bullosa Acquisita: Confirmation of Diagnosis by Skin Deficient in Type VII Collagen, Enzyme-linked Immunosorbent Assay, and Immunoblotting. ( 27293257 )
2016
10
The Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI): grading disease severity and assessing responsiveness to clinical change in epidermolysis bullosa. ( 27580431 )
2016
11
An autoimmune bullous dermatosis with clinical, histopathological, and immunological features of bullous pemphigoid and epidermolysis bullosa acquisita in an adult. ( 26989994 )
2016
12
Higher Dental Caries Prevalence and Its Association with Dietary Habits and Physical Limitation in Epidermolysis Bullosa Patients: A Case Control Study. ( 27207200 )
2016
13
Emergency Difficult Airway Management in a Patient with Severe Epidermolysis Bullosa. ( 27909609 )
2016
14
Functional evaluation of targeted exon deletion reveals prospect for dystrophic epidermolysis bullosa therapy. ( 27157667 )
2016
15
Chemotaxis-driven disease-site targeting of therapeutic adult stem cells in dystrophic epidermolysis bullosa. ( 27568180 )
2016
16
Kaposi varicelliform eruption in a patient with epidermolysis bullosa simplex generalized severe. ( 27284571 )
2016
17
Epidermolysis bullosa simplex in sibling Eurasier dogs is caused by a PLEC non-sense variant. ( 27878870 )
2016
18
Correction of recessive dystrophic epidermolysis bullosa by transposon-mediated integration of COL7A1 in transplantable patient-derived primary keratinocytes. ( 28027893 )
2016
19
Leg amputation and dystrophic epidermolysis bullosa: A case report with 15 years of follow-up. ( 27534753 )
2016
20
Long-Term Follow-Up of Amniotic Membrane Graft for the Treatment of Symblepharon in a Patient With Recessive Dystrophic Epidermolysis Bullosa. ( 27124783 )
2016
21
Feasibility, efficacy, and safety of ultrasound-guided axillary plexus blockade in pediatric patients with epidermolysis bullosa dystrophica. ( 26857539 )
2016
22
Newborn Infant With Epidermolysis Bullosa and Ankyloglossia. ( 26833212 )
2016
23
Molecular therapies for inherited epidermolysis bullosa. ( 27149615 )
2016
24
Case of dominant dystrophic epidermolysis bullosa with amniotic band syndrome. ( 27130450 )
2016
25
Multiple Milia as an Isolated Skin Manifestation of Dominant Dystrophic Epidermolysis Bullosa: Evidence of Phenotypic Variability. ( 28008652 )
2016
26
Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5. ( 27730678 )
2016
27
Site-specific genome editing for correction of induced pluripotent stem cells derived from dominant dystrophic epidermolysis bullosa. ( 27143720 )
2016
28
Erratum to: Neonatal Junctional Epidermolysis Bullosa: Treatment Conundrums and Ethical Decision Making. ( 27007120 )
2016
29
Clinical features and diagnosis of epidermolysis bullosa acquisita. ( 27580464 )
2016
30
The use of Biochip immunofluorescence microscopy for the serological diagnosis of epidermolysis bullosa acquisita. ( 26895535 )
2016
31
Gene Therapy for Epidermolysis Bullosa: Sticky Business. ( 27966558 )
2016
32
Toxic Epidermal Necrolysis in Recessive Dystrophic Epidermolysis Bullosa following Bone Marrow Transplantation. ( 26976809 )
2016
33
KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family. ( 27283507 )
2016
34
The Use of a Burn Surgery Technique to Improve Wounds Healing in Epidermolysis Bullosa. ( 27893576 )
2016
35
Treatment of symptomatic epidermolysis bullosa simplex with botulinum toxin in a pediatric patient. ( 27486588 )
2016
36
Images in Anesthesiology: Child with Junctional Epidermolysis Bullosa, Hoarseness, and Nasal Obstruction Demonstrating Severe Laryngeal Stenosis. ( 27755034 )
2016
37
Discovering potential drug-targets for personalized treatment of autoimmune disorders - what we learn from epidermolysis bullosa acquisita. ( 26838687 )
2016
38
Gene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes. ( 27045209 )
2016
39
Birmingham epidermolysis severity score and vitamin D status are associated with low BMD in children with epidermolysis bullosa. ( 28012019 )
2016
40
Coexistence of acquired hemophilia A and epidermolysis bullosa acquisita: Two case reports and published work review. ( 27511892 )
2016
41
Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases. ( 27544590 )
2016
42
Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia. ( 27607025 )
2016
43
Quality of Life and Economic Burden in Recessive Dystrophic Epidermolysis Bullosa. ( 26848213 )
2016
44
Long-term outcome after superficial keratectomy in an infant with epidermolysis bullosa. ( 27108844 )
2016
45
Vulvar Exacerbation of Epidermolysis Bullosa Simplex: A Case Report. ( 27030882 )
2016
46
Canakinumab in recessive dystrophic epidermolysis bullosa: a novel unexpected weapon for non-healing wounds? ( 26885873 )
2016
47
Treatment of Oral Lesions in Dystrophic Epidermolysis Bullosa: A Case Series of Cord Blood Platelet Gel and Low-level Laser Therapy. ( 27535037 )
2016
48
Epidemiology of Inherited Epidermolysis Bullosa Based on Incidence and Prevalence Estimates From the National Epidermolysis Bullosa Registry. ( 27463098 )
2016
49
Metaplastic Conditions in The Bladder in Patient with Epidermolysis Bullosa. ( 27564298 )
2016
50
Child with Junctional Epidermolysis Bullosa, Hoarseness, and Nasal Obstruction Demonstrating Severe Laryngeal Stenosis. ( 27272670 )
2016
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 23)
id Super pathways Score Top Affiliating Genes
1
ERK Signaling 60
Show member pathways
 13.68 COL17A1 COL7A1 DSP ITGA6 ITGB4 LAMA3
2
Integrin Pathway 60
Show member pathways
 13.24 COL17A1 COL7A1 ITGA6 ITGB4 LAMA3 LAMB3
3
Phospholipase-C Pathway 60
Show member pathways
 12.89 COL17A1 COL7A1 ITGA6 ITGB4 LAMA3 LAMB3
4
Focal Adhesion 37 1
Show member pathways
 12.73 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
5
Beta-Adrenergic Signaling 60
Show member pathways
 12.64 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
6
Pathways in cancer 37
12.5 ITGA6 LAMA3 LAMB3 LAMC2
7
PI3K-Akt signaling pathway 37
12.44 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
8
Cell junction organization 62
Show member pathways
 12.38 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
9
Keratinization 62
Show member pathways
 12.33 DSP FLG KRT14 KRT5
10
Collagen chain trimerization 62
Show member pathways
 12.33 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
11
MET promotes cell motility 62
Show member pathways
 12.15 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
12
Toxoplasmosis 37
Show member pathways
 12.1 ITGA6 LAMA3 LAMB3 LAMC2
13
Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview 61
Show member pathways
 12.01 ITGA6 ITGB4 LAMA3
14
ECM-receptor interaction 37
Show member pathways
 11.94 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
15
Degradation of the extracellular matrix 62
Show member pathways
 11.93 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
16
Adhesion 4
11.82 DSP ITGA6 ITGB4 PLEC
17
Cytoskeleton remodeling Neurofilaments 21
Show member pathways
 11.75 DSP DST KRT14 KRT5 PLEC
18
Amoebiasis 37
11.74 LAMA3 LAMB3 LAMC2
19
Small cell lung cancer 37
11.66 ITGA6 LAMA3 LAMB3 LAMC2
20
Cell adhesion_ECM remodeling 21
11.5 LAMA3 LAMB3 LAMC2
21
Non-integrin membrane-ECM interactions 62
Show member pathways
 11.48 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
22
a6b1 and a6b4 Integrin signaling 1
11.16 COL17A1 ITGA6 ITGB4
Sources

GO Terms for Epidermolysis Bullosa

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

id Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.8 COL17A1 DSP DST ITGB4 PLEC
2 proteinaceous extracellular matrix GO:0005578 9.65 COL17A1 COL7A1 LAMA3 LAMB3 LAMC2
3 intermediate filament GO:0005882 9.55 DSP DST FLG KRT14 KRT5
4 basement membrane GO:0005604 9.5 COL17A1 COL7A1 DST ITGA6 LAMA3 LAMB3
5 basal plasma membrane GO:0009925 9.48 DST ITGA6
6 integrin complex GO:0008305 9.46 ITGA6 ITGB4
7 desmosome GO:0030057 9.43 DSP KLHL24
8 basal part of cell GO:0045178 9.37 ITGA6 KRT14
9 laminin-5 complex GO:0005610 9.32 LAMA3 LAMB3
10 hemidesmosome GO:0030056 9.02 COL17A1 DST ITGA6 ITGB4 PLEC

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.8 COL7A1 DST ITGA6 ITGB4 LAMA3 LAMB3
2 cell-matrix adhesion GO:0007160 9.69 COL17A1 ITGA6 ITGB4
3 integrin-mediated signaling pathway GO:0007229 9.67 DST ITGA6 ITGB4
4 extracellular matrix disassembly GO:0022617 9.65 LAMA3 LAMB3 LAMC2
5 extracellular matrix organization GO:0030198 9.63 COL7A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
6 cornification GO:0070268 9.62 DSP FLG KRT14 KRT5
7 skin development GO:0043588 9.58 DSP ITGA6 ITGB4
8 brown fat cell differentiation GO:0050873 9.57 ITGA6 LAMB3
9 cell motility GO:0048870 9.56 DST ITGB4
10 epidermis development GO:0008544 9.56 COL17A1 COL7A1 DSP KRT14 KRT5 LAMA3
11 renal system development GO:0072001 9.55 ITGA6 ITGB4
12 intermediate filament cytoskeleton organization GO:0045104 9.54 DSP DST
13 endodermal cell differentiation GO:0035987 9.54 COL7A1 LAMA3 LAMB3
14 intermediate filament organization GO:0045109 9.52 DSP KLHL24
15 amelogenesis GO:0097186 9.46 ITGA6 ITGB4
16 nail development GO:0035878 9.43 ITGA6 ITGB4
17 hemidesmosome assembly GO:0031581 9.28 COL17A1 ITGA6 ITGB4 KRT14 KRT5 LAMA3

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

id Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.43 DSP KRT14 KRT5
2 structural molecule activity GO:0005198 9.26 DSP FLG LAMA3 LAMB3
3 insulin-like growth factor I binding GO:0031994 9.16 ITGA6 ITGB4
4 neuregulin binding GO:0038132 8.62 ITGA6 ITGB4
Sources

Sources for Epidermolysis Bullosa

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 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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