EB
MCID: EPD016
MIFTS: 58

Epidermolysis Bullosa (EB)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa

MalaCards integrated aliases for Epidermolysis Bullosa:

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

Classifications:



External Ids:

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

Summaries for Epidermolysis Bullosa

NIH Rare Diseases : 54 Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister and erode very easily. In people with EB, blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of EB, which are classified based on the depth, or level, of blister formation:Epidermolysis bullosa simplex Dystrophic epidermolysis bullosa Junctional epidermolysis bullosa Kindler Syndrome EB may then be further classified based on severity and specific symptoms, such as distribution (localized or generalized) and whether parts of the body other than the skin are affected. Specific sub-types may then be determined based on identifying the exact protein that is defective in a person with EB. This may be done by tests performed on a skin biopsy, or when possible, genetic testing. Identifying the exact sub-type can be hard because there are many sub-types of EB. A person with any main type of EB may be mildly or severely affected, and the disease can range from being a minor inconvenience requiring modifying activities, to completely disabling and even fatal in some cases. EB may be caused by changes (mutations) in at least 18 genes that play various roles in the structure, integrity, and repair of the skin. Inheritance may be autosomal dominant or autosomal recessive depending on the type and subtype of EB a person has. Management involves a multidisciplinary team of health care providers and involves wound care, pain control, controlling infections, nutritional support, and prevention and treatment of complications.

MalaCards based summary : Epidermolysis Bullosa, also known as acantholysis bullosa, is related to epidermolysis bullosa simplex, dowling-meara type and epidermolysis bullosa, junctional, herlitz type. An important gene associated with Epidermolysis Bullosa is PLEC (Plectin), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drugs Tetracycline and Morphine have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and bone, and related phenotypes are Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance and craniofacial

Disease Ontology : 12 A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin.

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

Related Diseases for Epidermolysis Bullosa

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

(show top 50) (show all 358)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex, dowling-meara type 34.9 KRT14 KRT5
2 epidermolysis bullosa, junctional, herlitz type 34.8 LAMA3 LAMB3 LAMC2
3 epidermolysis bullosa dystrophica 34.6 COL7A1 DST
4 epidermolysis bullosa simplex, localized 34.6 ITGB4 KRT14 KRT5
5 epidermolysis bullosa simplex, autosomal recessive 1 34.6 KRT14 KRT5
6 epidermolysis bullosa simplex with pyloric atresia 34.5 ITGB4 PLEC
7 epidermolysis bullosa simplex with muscular dystrophy 34.5 COL17A1 DST PLEC
8 epidermolysis bullosa simplex, generalized 34.5 KLHL24 KRT14 KRT5
9 epidermolysis bullosa simplex with mottled pigmentation 34.4 EXPH5 KRT14 KRT5
10 epidermolysis bullosa with pyloric atresia 34.1 ITGA6 ITGB4 PLEC
11 epidermolysis bullosa acquisita 34.0 COL17A1 COL7A1 DST ITGB4 LAMA3
12 epidermolysis bullosa junctionalis with pyloric atresia 33.9 COL17A1 DST ITGA6 ITGB4 PLEC
13 epidermolysis bullosa simplex 33.3 COL17A1 DST ITGB4 KLHL24 KRT14 KRT5
14 junctional epidermolysis bullosa 33.3 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
15 kindler syndrome 33.1 COL7A1 DST ITGB4
16 epidermolysis bullosa, junctional, non-herlitz type 33.0 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
17 pyloric atresia 31.0 COL17A1 ITGA6 ITGB4 LAMC2 PLEC
18 aplasia cutis congenita 30.8 COL7A1 ITGA6 ITGB4
19 linear iga disease 30.4 COL17A1 DST ITGB4
20 maternal uniparental disomy of chromosome 1 30.3 LAMA3 LAMB3 LAMC2
21 lichen planopilaris 30.2 COL17A1 KRT14 KRT5
22 cicatricial pemphigoid 30.0 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
23 pemphigus 29.9 COL17A1 DSP DST
24 bullous pemphigoid 29.6 COL17A1 DSP DST ITGA6 ITGB4 LAMA3
25 epidermolysis bullosa dystrophica, autosomal recessive 13.0
26 recessive dystrophic epidermolysis bullosa 13.0
27 epidermolysis bullosa dystrophica, pretibial 12.9
28 epidermolysis bullosa dystrophica, autosomal dominant 12.9
29 epidermolysis bullosa, lethal acantholytic 12.9
30 epidermolysis bullosa pruriginosa 12.9
31 epidermolysis bullosa simplex with migratory circinate erythema 12.8
32 epidermolysis bullosa simplex, ogna type 12.8
33 dominant dystrophic epidermolysis bullosa 12.8
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 12.7
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 12.4
50 epidermolysis bullosa dystrophica neurotrophica 12.3

Graphical network of the top 20 diseases related to Epidermolysis Bullosa:



Diseases related to Epidermolysis Bullosa

Symptoms & Phenotypes for Epidermolysis Bullosa

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

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

MGI Mouse Phenotypes related to Epidermolysis Bullosa:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.02 COL7A1 DSP ITGA6 ITGB4 KRT14 KRT5
2 digestive/alimentary MP:0005381 10.02 COL7A1 DSP ITGA3 ITGA6 ITGB4 KRT14
3 growth/size/body region MP:0005378 10 COL7A1 DSP ITGA3 ITGA6 ITGB4 KRT14
4 integument MP:0010771 9.9 COL7A1 DSP ITGA3 ITGA6 ITGB4 KRT14
5 mortality/aging MP:0010768 9.7 COL7A1 DSP ITGA3 ITGA6 ITGB4 KRT14
6 respiratory system MP:0005388 9.17 ITGA3 ITGA6 ITGB4 KRT14 LAMA3 LAMB3

Drugs & Therapeutics for Epidermolysis Bullosa

Drugs for Epidermolysis Bullosa (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 118)
# 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,Not Applicable
6 Analgesics Phase 4,Not Applicable
7 Narcotics Phase 4
8 Analgesics, Opioid Phase 4
9 Central Nervous System Depressants Phase 4,Not Applicable
10
Erythromycin Approved, Investigational, Vet_approved Phase 3 114-07-8 12560 441411
11
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
12
Allantoin Approved Phase 3,Phase 2 97-59-6 204
13
Coal tar Approved Phase 3 8007-45-2
14
Hydroxyzine Approved Phase 2, Phase 3 68-88-2 3658
15
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
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 Erythromycin Estolate Phase 3
20 Erythromycin Ethylsuccinate Phase 3
21 Gastrointestinal Agents Phase 3
22 Botulinum Toxins, Type A Phase 2, Phase 3
23 Acetylcholine Release Inhibitors Phase 2, Phase 3
24 Cholinergic Agents Phase 2, Phase 3
25 Neurotransmitter Agents Phase 2, Phase 3
26 Anesthetics Phase 2, Phase 3,Phase 1,Not Applicable
27 abobotulinumtoxinA Phase 2, Phase 3
28 Anti-Infective Agents, Local Phase 2, Phase 3
29 Sunflower Phase 3
30
Fludarabine Approved Phase 2,Early Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
31
Tacrolimus Approved, Investigational Phase 2,Early Phase 1 104987-11-3 445643 439492 6473866
32
leucovorin Approved Phase 2 58-05-9 6006 143
33
Trimethoprim Approved, Vet_approved Phase 2 738-70-5 5578
34
Lenograstim Approved, Investigational Phase 2 135968-09-1
35
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
36
Methoxsalen Approved Phase 2 298-81-7 4114
37
tannic acid Approved Phase 2 1401-55-4
38
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
39
Mycophenolic acid Approved Phase 2 24280-93-1 446541
40
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
41
Cyclophosphamide Approved, Investigational Phase 2,Not Applicable 6055-19-2, 50-18-0 2907
42
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
43
Mesna Approved, Investigational Phase 2 3375-50-6 598
44
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
45
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
46
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
47
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
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 gallate Investigational Phase 2 989-51-5 65064

Interventional clinical trials:

(show top 50) (show all 80)
# 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 Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis Bullosa Unknown status NCT02323789 Phase 1, Phase 2 Mesenchymal stromal cells
16 Study of Alwextin® Cream in Treating Epidermolysis Bullosa Completed NCT00825565 Phase 2 Alwextin cream
17 Study of Effectiveness and Safety of SD-101 in Subjects With Epidermolysis Bullosa Completed NCT02014376 Phase 2 3% SD-101 dermal cream;6% SD-101 dermal cream;Vehicle (0% SD-101)
18 Oleogel-S10 in Wound Healing of Inherited Epidermolysis Bullosa (BEB-10) Completed NCT01294241 Phase 2 Oleogel-S10
19 The Efficacy of Trimethoprim in Wound Healing of Patients With Epidermolysis Bullosa Completed NCT00380640 Phase 2 Trimethoprim;Trimethoprim
20 Efficacy of Granulocyte Colony Stimulating Factor (GCSF) In Patients With Dystrophic Epidermolysis Bullosa Completed NCT01538862 Phase 2 Granulocyte Colony Stimulating Factor (GCSF)
21 Treatment of Epidermolysis Bullosa Dystrophica by Polyphenon E (Epigallocatechin 3 Gallate) Completed NCT00951964 Phase 2 Polyphenon E before Placebo;placebo before treatment
22 Phase II Pilot Study of Extracorporeal Phototherapy for Epidermolysis Bullosa Acquisita Completed NCT00004359 Phase 2 methoxsalen
23 Trial To Assess Efficacy Of A Chimeric Skin In Patients With Epidermolysys Bullosa Completed NCT00987142 Phase 2 CX501
24 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
25 Allogeneic ABCB5-positive Stem Cells for Treatment of Epidermolysis Bullosa Recruiting NCT03529877 Phase 1, Phase 2
26 A Phase 1/2 Trial of PTR-01 in Adult Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT03752905 Phase 1, Phase 2 PTR-01;Normal saline
27 Topical Bercolagene Telserpavec (KB103) Gene Therapy to Restore Functional Collagen VII for the Treatment of Dystrophic Epidermolysis Bullosa Recruiting NCT03536143 Phase 2
28 A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT02810951 Phase 1, Phase 2
29 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
30 Intravenous Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT03392909 Phase 1, Phase 2 Gentamicin
31 MT2015-20: Biochemical Correction of Severe EB by Allo HSCT and Serial Donor MSCs Recruiting NCT02582775 Phase 2 Thymoglobulin;Cyclophosphamide;Fludarabine;Tacrolimus;Mycophenolate Mofetil;Busulfan
32 Gentamicin for Junctional Epidermolysis Bullosa Recruiting NCT03526159 Phase 1, Phase 2 Gentamicin Sulfate
33 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
34 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)
35 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
36 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Recruiting NCT03016715 Phase 2 Sirolimus 2%;Vehicle
37 Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT01263379 Phase 1, Phase 2
38 A Double-blind, Intra-individual Comparison, POC Trial of AC-203 in EB Patients Active, not recruiting NCT03468322 Phase 2 AC-203;Vehicle
39 Neurokinin-1 Receptor Antagonist for the Treatment of Itch in EB Patients Active, not recruiting NCT02654483 Phase 2 VPD-737
40 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Active, not recruiting NCT02960997 Phase 2 Sirolimus, 2%;Vehicle
41 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
42 A Neurokinin-1 Receptor Antagonist for the Treatment of Pruritus in Patients With Epidermolysis Bullosa Not yet recruiting NCT03836001 Phase 2 Serlopitant Tablet;Placebo Oral Tablet
43 Rigosertib for RDEB-SCC Not yet recruiting NCT03786237 Phase 1, Phase 2 Rigosertib Oral Capsules / Rigosertib Oral Liquid Solution / Rigosertib Intravenous
44 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
45 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
46 A Pilot Study of HP802-247 in Dystrophic Epidermolysis Bullosa Withdrawn NCT01528306 Phase 2
47 Autologous Transplantation of Cultured Fibroblast on Amniotic Membrane in Patients With Epidermolysis Bullosa Completed NCT01908088 Phase 1
48 Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis Bullosa Completed NCT02493816 Phase 1 Gene-modified autologous fibroblasts
49 Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00014729 Phase 1 isotretinoin
50 Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin Completed NCT02592954 Phase 1 Jojoba oil with broccoli sprout extract;Jojoba oil (placebo)

Search NIH Clinical Center for Epidermolysis Bullosa

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


Cochrane evidence based reviews: epidermolysis bullosa

Genetic Tests for Epidermolysis Bullosa

Genetic tests related to Epidermolysis Bullosa:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa 30

Anatomical Context for Epidermolysis Bullosa

MalaCards organs/tissues related to Epidermolysis Bullosa:

42
Skin, Testes, Bone, Bone Marrow, Colon, Neutrophil, Eye

Publications for Epidermolysis Bullosa

Articles related to Epidermolysis Bullosa:

(show top 50) (show all 3136)
# Title Authors Year
1
Dominant dystrophic epidermolysis bullosa pruriginosa with a COL7A1 exon 87 c.6898C>T mutation. ( 30168161 )
2019
2
Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work. ( 30809829 )
2019
3
In utero development of epidermolysis bullosa acquisita. ( 30338555 )
2019
4
Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis. ( 30515866 )
2019
5
Therapies for epidermolysis bullosa: delivery is key. ( 30604552 )
2019
6
Iterative codesign and testing of a novel dressing glove for epidermolysis bullosa. ( 30625043 )
2019
7
Retrospective longitudinal study of osteoporosis in adults with recessive dystrophic epidermolysis bullosa. ( 30656009 )
2019
8
A retrospective cohort study evaluating the accuracy of clinical diagnosis compared to immunofluorescence and electron microscopy in children with inherited epidermolysis bullosa. ( 30657165 )
2019
9
Elevation of serum interleukin-21 in patients with epidermolysis bullosa acquisita. ( 30672610 )
2019
10
A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa. ( 30673110 )
2019
11
Thrombospondin-1 is a major activator of TGF-beta signaling in recessive dystrophic epidermolysis bullosa fibroblasts. ( 30684555 )
2019
12
Successful tracheal intubation using videolaryngoscope in Shwachman-Diamond syndrome patient combined with congenital epidermolysis bullosa. ( 30684918 )
2019
13
Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT5. ( 30690752 )
2019
14
Validity of first-time diagnoses of congenital epidermolysis bullosa in the Danish National Patient Registry and the Danish Pathology Registry. ( 30697082 )
2019
15
Potential therapeutic targeting of inflammation in epidermolysis bullosa simplex. ( 30714107 )
2019
16
Anaesthetic management of a rare case of paediatric epidermolysis bullosa. ( 30745623 )
2019
17
A Nonjunctional, Nonsyndromic Case of Junctional Epidermolysis Bullosa With Renal and Respiratory Involvement. ( 30785604 )
2019
18
miR-145-5p regulates fibrotic features of recessive dystrophic epidermolysis bullosa skin fibroblasts. ( 30816994 )
2019
19
Image Gallery: Multiple localized lipoatrophy in recessive dystrophic epidermolysis bullosa. ( 30821372 )
2019
20
Wound healing deficits in severe generalized recessive dystrophic epidermolysis bullosa along anticancer treatment with cetuximab. ( 30821421 )
2019
21
Efficient gene reframing therapy for recessive dystrophic epidermolysis bullosa using CRISPR/Cas9. ( 30831133 )
2019
22
Bone marrow transplant with post-transplant cyclophosphamide for recessive dystrophic epidermolysis bullosa expands the related donor pool and permits tolerance of non-hematopoietic cellular grafts. ( 30843184 )
2019
23
Identification of rigosertib for the treatment of recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma. ( 30846478 )
2019
24
A nutrition-based approach to epidermolysis bullosa: Causes, assessments, requirements and management. ( 30857908 )
2019
25
Epidemiology and natural history of cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients: 20 years' experience of a reference centre in Spain. ( 30864020 )
2019
26
Laryngeal lesion associated with epidermolysis bullosa secondary to congenital plectin deficiency. ( 30880037 )
2019
27
Impact of Painful Wound Care in Epidermolysis Bullosa During Childhood: An Interview Study with Adult Patients and Parents. ( 30896776 )
2019
28
Orofacial management for epidermolysis bullosa during wisdom tooth removal surgery: a technical note. ( 30910765 )
2019
29
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
30
Epidermolysis bullosa simplex generalized severe induces a Th17 response and is improved by Apremilast treatment. ( 29932457 )
2018
31
Successful Multidisciplinary Treatment of Chronic Facial Wounds in Junctional Epidermolysis Bullosa. ( 29963681 )
2018
32
Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa. ( 29504492 )
2018
33
Response to Modabber and Harissi-Dagher's Letter: "Type 1 Boston Keratoprosthesis for Limbal Stem Cell Deficiency in Epidermolysis Bullosa". ( 29648915 )
2018
34
Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico. ( 29473190 )
2018
35
An unusual cause of dysphagia in a child: Gastrointestinal manifestations of epidermolysis bullosa. ( 29923525 )
2018
36
Epidermolysis bullosa: management complexities for paediatric patients. ( 29944424 )
2018
37
To avoid a misleading genetic diagnosis of epidermolysis bullosa. ( 29330933 )
2018
38
Burnlike scars: A sign suggestive of KLHL24-related epidermolysis bullosa simplex. ( 29574966 )
2018
39
Letter to the Editor: Type 1 Boston Keratoprosthesis for Limbal Stem Cell Deficiency in Epidermolysis Bullosa. ( 29543561 )
2018
40
Collagen VII deficient mice show morphologic and histologic corneal changes that phenotypically mimic human dystrophic epidermolysis bullosa of the eye. ( 29920270 )
2018
41
Injury- and inflammation-driven skin fibrosis: The paradigm of epidermolysis bullosa. ( 29391280 )
2018
42
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
43
Orf - a potential trigger for self-limiting epidermolysis bullosa acquisita-like blistering. ( 29441548 )
2018
44
Whole-Genome Expression Profiling in Skin Reveals SYK As a Key Regulator of Inflammation in Experimental Epidermolysis Bullosa Acquisita. ( 29497423 )
2018
45
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
46
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
47
p.Glu477Lys mutation in keratin 5 is not necessarily mortal in generalized severe epidermolysis bullosa simplex. ( 29464779 )
2018
48
Case Report of a 21-Year-Old Man With Epidermolysis Bullosa Acquisita. ( 29865955 )
2018
49
Ophthalmologic Approach in Epidermolysis Bullosa: A Cross-Sectional Study With Phenotype-Genotype Correlations. ( 29384803 )
2018
50
Case report of two siblings with a novel homozygous mutation in COL7A1 leads to recessive dystrophic epidermolysis bullosa: which type? ( 29846190 )
2018

Variations for Epidermolysis Bullosa

Expression for Epidermolysis Bullosa

Search GEO for disease gene expression data for Epidermolysis Bullosa.

Pathways for Epidermolysis Bullosa

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

(show all 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 COL17A1 COL7A1 DSP ITGA3 ITGA6 ITGB4
2
Show member pathways
13.25 COL17A1 COL7A1 ITGA3 ITGA6 ITGB4 LAMA3
3
Show member pathways
12.95 COL17A1 COL7A1 ITGA3 ITGA6 ITGB4 LAMA3
4
Show member pathways
12.88 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
5
Show member pathways
12.77 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
6 12.73 ITGA3 ITGA6 LAMA3 LAMB3 LAMC2
7
Show member pathways
12.67 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
8
Show member pathways
12.38 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
9
Show member pathways
12.37 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
10
Show member pathways
12.33 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
11
Show member pathways
12.32 DSP ITGA3 ITGA6 ITGB4
12
Show member pathways
12.16 ITGA6 LAMA3 LAMB3 LAMC2
13
Show member pathways
12.07 ITGA3 ITGA6 ITGB4
14
Show member pathways
12.07 COL17A1 COL7A1 ITGA3 ITGA6 ITGB4 LAMA3
15
Show member pathways
12.01 ITGA3 ITGA6 ITGB4 LAMA3
16 11.98 ITGA3 ITGA6 ITGB4
17
Show member pathways
11.98 COL17A1 COL7A1 DST ITGA3 ITGA6 ITGB4
18 11.93 DSP ITGA6 ITGB4 PLEC
19
Show member pathways
11.91 DSP DST KRT14 KRT5 PLEC
20
Show member pathways
11.91 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
21 11.81 ITGA3 ITGA6 ITGB4
22 11.78 LAMA3 LAMB3 LAMC2
23 11.77 ITGA3 ITGA6 LAMA3 LAMB3 LAMC2
24 11.72 ITGA3 ITGA6 ITGB4
25 11.55 LAMA3 LAMB3 LAMC2
26 11.49 ITGA3 ITGA6 ITGB4
27 11.37 ITGA3 ITGA6 ITGB4
28 11.35 ITGA3 ITGA6 ITGB4
29 11.22 COL17A1 ITGA6 ITGB4
30 11.19 ITGB4 LAMA3
31 11.07 ITGA3 ITGA6
33 10.83 COL17A1 COL7A1 ITGA3 ITGA6 ITGB4 LAMA3

GO Terms for Epidermolysis Bullosa

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 for Epidermolysis Bullosa

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