DEB
MCID: EPD009
MIFTS: 58

Epidermolysis Bullosa Dystrophica (DEB)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Dystrophica

MalaCards integrated aliases for Epidermolysis Bullosa Dystrophica:

Name: Epidermolysis Bullosa Dystrophica 38 12 24 53 25 44 15 73
Dystrophic Epidermolysis Bullosa 12 76 24 53 25 29 6
Deb 24 53
Epidermolysis Bullosa, Dermolytic 53
Epidermolysis Bullosa, Dystrophic 25
Dermolytic Epidermolysis Bullosa 53
Epidermolysis Bullosa Dystrophic 55

Characteristics:

GeneReviews:

24
Penetrance Until recently, pathogenic variants in col7a1 were considered to be 100% penetrant when family members were evaluated for mild features of the disease. however, in several families, an individual with ddeb and a known col7a1 pathogenic variant had relatives with the same variant who had no signs of the disease. penetrance therefore appears to be less than 100%, at least in ddeb [almaani et al 2011; authors, unpublished observations]...

Classifications:



Summaries for Epidermolysis Bullosa Dystrophica

NIH Rare Diseases : 53 Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms can vary widely among affected people. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases often involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. DEB is caused by changes (mutations) in the COL7A1 gene and may be inherited in an autosomal dominant or autosomal recessive manner depending on the subtype. New blisters should be lanced, drained, and protected. Some patients need nutritional support, supplements, occupational therapy and/or surgery depending on the associated features of the disease.

MalaCards based summary : Epidermolysis Bullosa Dystrophica, also known as dystrophic epidermolysis bullosa, is related to epidermolysis bullosa dystrophica, autosomal recessive and epidermolysis bullosa pruriginosa. An important gene associated with Epidermolysis Bullosa Dystrophica is COL7A1 (Collagen Type VII Alpha 1 Chain), and among its related pathways/superpathways are Integrin Pathway and Collagen chain trimerization. The drugs Lenograstim and Epigallocatechin have been mentioned in the context of this disorder. Affiliated tissues include Dermis and Dermis, and related phenotypes are finger syndactyly and failure to thrive

Genetics Home Reference : 25 Epidermolysis bullosa is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases of this condition involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems.

Wikipedia : 76 Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and... more...

GeneReviews: NBK1304

Related Diseases for Epidermolysis Bullosa Dystrophica

Diseases in the Epidermolysis Bullosa Dystrophica family:

Epidermolysis Bullosa Dystrophica, Autosomal Dominant Epidermolysis Bullosa Dystrophica, Autosomal Recessive

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

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa dystrophica, autosomal recessive 34.8 COL7A1 MMP1
2 epidermolysis bullosa pruriginosa 32.8 COL7A1 FLG MMP1
3 recessive dystrophic epidermolysis bullosa 32.8 COL7A1 FLG MMP1
4 epidermolysis bullosa acquisita 30.5 COL7A1 DST
5 kindler syndrome 30.4 COL7A1 DST
6 epidermolysis bullosa dystrophica, autosomal dominant 12.9
7 epidermolysis bullosa dystrophica, pretibial 12.8
8 epidermolysis bullosa dystrophica neurotrophica 12.4
9 transient bullous dermolysis of the newborn 12.2
10 epidermolysis bullosa with congenital localized absence of skin and deformity of nails 12.1
11 dominant dystrophic epidermolysis bullosa 11.4
12 nail disorder, nonsyndromic congenital, 8 11.4
13 epidermolysis bullosa 11.3
14 squamous cell carcinoma 10.7
15 amyloidosis 10.6
16 dermatitis 10.5
17 recessive dystrophic epidermolysis bullosa-generalized other 10.4
18 dominant dystrophic epidermolysis bullosa, nails only 10.4
19 acral dystrophic epidermolysis bullosa 10.4
20 centripetalis recessive dystrophic epidermolysis bullosa 10.4
21 iga glomerulonephritis 10.4
22 aceruloplasminemia 10.4
23 dermatitis, atopic 10.3
24 anxiety 10.3
25 chronic ulcer of skin 10.3
26 glomerulonephritis 10.3
27 epidermolysis bullosa simplex 10.3
28 amniotic band syndrome 10.3
29 aplasia cutis congenita 10.3
30 depression 10.3
31 argyria 10.3
32 osteoporosis 10.2
33 pelger-huet anomaly 10.2
34 osteogenic sarcoma 10.2
35 dilated cardiomyopathy 10.2
36 sclerocornea 10.2
37 cornea plana 10.2
38 sarcoma 10.2
39 hyperglobulinemic purpura 10.2
40 purpura 10.2
41 colonic disease 10.2
42 pityriasis rosea 10.2
43 superior limbic keratoconjunctivitis 10.2 MMP1 MMP3
44 spastic entropion 10.2 MMP1 MMP3
45 tendinopathy 10.2 MMP1 MMP3
46 adult astrocytic tumour 10.2 MMP1 MMP3
47 conjunctivochalasis 10.2 MMP1 MMP3
48 corneal edema 10.2 MMP1 MMP3
49 septic arthritis 10.2 MMP1 MMP3
50 tendinosis 10.2 MMP1 MMP3

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



Diseases related to Epidermolysis Bullosa Dystrophica

Symptoms & Phenotypes for Epidermolysis Bullosa Dystrophica

Human phenotypes related to Epidermolysis Bullosa Dystrophica:

32 (show all 43)
# Description HPO Frequency HPO Source Accession
1 finger syndactyly 32 frequent (33%) HP:0006101
2 failure to thrive 32 occasional (7.5%) HP:0001508
3 dysphagia 32 frequent (33%) HP:0002015
4 hearing impairment 32 occasional (7.5%) HP:0000365
5 chronic otitis media 32 occasional (7.5%) HP:0000389
6 carious teeth 32 frequent (33%) HP:0000670
7 renal insufficiency 32 occasional (7.5%) HP:0000083
8 anemia 32 occasional (7.5%) HP:0001903
9 abnormal blistering of the skin 32 hallmark (90%) HP:0008066
10 congestive heart failure 32 occasional (7.5%) HP:0001635
11 corneal erosion 32 occasional (7.5%) HP:0200020
12 dilated cardiomyopathy 32 occasional (7.5%) HP:0001644
13 nephrotic syndrome 32 occasional (7.5%) HP:0000100
14 hypopigmented skin patches 32 frequent (33%) HP:0001053
15 glomerulopathy 32 occasional (7.5%) HP:0100820
16 blepharitis 32 occasional (7.5%) HP:0000498
17 aplasia/hypoplasia of the skin 32 hallmark (90%) HP:0008065
18 abnormality of dental enamel 32 frequent (33%) HP:0000682
19 cheilitis 32 hallmark (90%) HP:0100825
20 eczema 32 occasional (7.5%) HP:0000964
21 stroke 32 occasional (7.5%) HP:0001297
22 nasolacrimal duct obstruction 32 occasional (7.5%) HP:0000579
23 camptodactyly of finger 32 frequent (33%) HP:0100490
24 toe syndactyly 32 frequent (33%) HP:0001770
25 flexion contracture of toe 32 frequent (33%) HP:0005830
26 furrowed tongue 32 frequent (33%) HP:0000221
27 ectropion 32 occasional (7.5%) HP:0000656
28 gangrene 32 frequent (33%) HP:0100758
29 recurrent skin infections 32 frequent (33%) HP:0001581
30 dystrophic toenail 32 hallmark (90%) HP:0001810
31 dystrophic fingernails 32 hallmark (90%) HP:0008391
32 squamous cell carcinoma 32 occasional (7.5%) HP:0002860
33 immunologic hypersensitivity 32 occasional (7.5%) HP:0100326
34 abnormality of the anus 32 occasional (7.5%) HP:0004378
35 urinary retention 32 occasional (7.5%) HP:0000016
36 interstitial pulmonary abnormality 32 occasional (7.5%) HP:0006530
37 ureteral stenosis 32 occasional (7.5%) HP:0000071
38 scarring 32 occasional (7.5%) HP:0100699
39 laryngeal stenosis 32 frequent (33%) HP:0001602
40 milia 32 frequent (33%) HP:0001056
41 phimosis 32 occasional (7.5%) HP:0001741
42 esophageal stricture 32 frequent (33%) HP:0002043
43 acute constipation 32 occasional (7.5%) HP:0012451

Drugs & Therapeutics for Epidermolysis Bullosa Dystrophica

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

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 2 135968-09-1
2
Epigallocatechin Experimental, Investigational Phase 2 970-74-1 72277
3
Epigallocatechin gallate Investigational Phase 2 989-51-5 65064
4
Imidacloprid Vet_approved Phase 1, Phase 2 105827-78-9 86418
5 Anti-Bacterial Agents Phase 1, Phase 2,Phase 2,Not Applicable
6 Gentamicins Phase 1, Phase 2,Phase 2,Not Applicable
7 Anti-Infective Agents Phase 1, Phase 2,Phase 2,Not Applicable
8 Antioxidants Phase 2
9 Neuroprotective Agents Phase 2
10 Protective Agents Phase 2
11 Immunologic Factors Phase 2,Not Applicable
12 Adjuvants, Immunologic Phase 2
13 Anesthetics Phase 1, Phase 2
14 Anti-Inflammatory Agents Phase 1, Phase 2
15 Antibiotics, Antitubercular Phase 1, Phase 2,Not Applicable
16 Anesthetics, General Phase 1, Phase 2
17 Mitogens Phase 1, Phase 2
18
Isotretinoin Approved Phase 1 4759-48-2 5538 5282379
19 Dermatologic Agents Phase 1
20
Pentetic acid Approved 67-43-6
21
Heparin Approved, Investigational 9005-49-6 772 46507594
22
Edetic Acid Approved, Vet_approved 62-33-9, 60-00-4 6049
23
Fludarabine Approved Early Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
24
Tacrolimus Approved, Investigational Early Phase 1 104987-11-3 445643 439492
25
Lorazepam Approved Early Phase 1 846-49-1 3958
26
alemtuzumab Approved, Investigational Early Phase 1 216503-57-0
27
Busulfan Approved, Investigational Early Phase 1,Not Applicable 55-98-1 2478
28
Petrolatum Approved, Investigational Not Applicable 8009-03-8
29
Cyclophosphamide Approved, Investigational Not Applicable 6055-19-2, 50-18-0 2907
30 Autoantibodies
31 Antibodies
32 calcium heparin
33 Immunoglobulins
34 Endothelial Growth Factors
35 Antineoplastic Agents, Alkylating Not Applicable
36 Antimetabolites Not Applicable
37 Immunosuppressive Agents Not Applicable
38 Antirheumatic Agents Not Applicable
39 Alkylating Agents Not Applicable
40 Antimetabolites, Antineoplastic Not Applicable

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 A Comparative Study of the Healing of Chronic Ulcers of Recessive Epidermolysis Bullosa : Dressing vs Amniotic Membrane Recruiting NCT02286427 Phase 3
2 Safety and Efficacy of Apligraf in Nonhealing Wounds of Subjects With Junctional or Dystrophic Epidermolysis Bullosa (EB) Terminated NCT00587223 Phase 3
3 Study to Evaluate the Safety of ALLO-ASC-DFU in the Subjects With Dystrophic Epidermolysis Bullosa Unknown status NCT02579369 Phase 1, Phase 2
4 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa Patients With Nonsense Mutations Unknown status NCT03012191 Phase 1, Phase 2 Gentamicin Sulfate
5 Treatment of Epidermolysis Bullosa Dystrophica by Polyphenon E (Epigallocatechin 3 Gallate) Completed NCT00951964 Phase 2 Polyphenon E before Placebo;placebo before treatment
6 Efficacy of Granulocyte Colony Stimulating Factor (GCSF) In Patients With Dystrophic Epidermolysis Bullosa Completed NCT01538862 Phase 2 Granulocyte Colony Stimulating Factor (GCSF)
7 A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT02810951 Phase 1, Phase 2
8 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
9 Topical KB103 Gene Therapy to Restore Functional Collagen VII for the Treatment of Dystrophic Epidermolysis Bullosa Recruiting NCT03536143 Phase 2
10 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
11 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)
12 Intravenous Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT03392909 Phase 1, Phase 2 Gentamicin
13 Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT01263379 Phase 1, Phase 2
14 Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT02323789 Phase 1, Phase 2 Mesenchymal stromal cells
15 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
16 Rigosertib for RDEB-SCC Not yet recruiting NCT03786237 Phase 1, Phase 2 Rigosertib Oral Capsules / Rigosertib Oral Liquid Solution / Rigosertib Intravenous
17 Allogeneic ABCB5-positive Stem Cells for Treatment of Epidermolysis Bullosa Not yet recruiting NCT03529877 Phase 1, Phase 2
18 A Pilot Study of HP802-247 in Dystrophic Epidermolysis Bullosa Withdrawn NCT01528306 Phase 2
19 Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis Bullosa Completed NCT02493816 Phase 1 Gene-modified autologous fibroblasts
20 Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00014729 Phase 1 isotretinoin
21 Autologous Transplantation of Cultured Fibroblast on Amniotic Membrane in Patients With Epidermolysis Bullosa Completed NCT01908088 Phase 1
22 Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT01874769
23 Allogeneic Stem Cell Transplantation (ALLOSCT) in Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT00881556 Early Phase 1 Reduced Intensity Transplant conditioning
24 Characteristics of Adult Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00904163
25 Treatment of Chronic and Non-Chronic Wounds in Patients With Recessive Dystrophic Epidermolysis Bullosa Using Helicoll Collagen Dressings Versus Standard of Care Completed NCT01716169 Not Applicable
26 Short Term Observational Study in DEB Patients Completed NCT02178969
27 Proof of Concept Study for a Dressing Glove Completed NCT03241628
28 Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa Recruiting NCT01019148
29 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients Enrolling by invitation NCT02698735 Not Applicable Gentamicin;Placebo
30 A Follow-up Study to Evaluate the Efficacy and Safety of ALLO-ASC-DFU in ALLO-ASC-EB-101 Clinical Trial Not yet recruiting NCT03183934
31 Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene Transfer Terminated NCT00533572
32 Allogeneic Hematopoietic Stem Cell Transplant For Epidermolysis Bullosa Terminated NCT00478244 Not Applicable busulfan;cyclophosphamide;fludarabine phosphate
33 Prospective, Longitudinal Natural History Study in Dystrophic Epidermolysis Bullosa Withdrawn NCT01768026
34 Pilot Study Evaluating the Efficiency and the Tolerance of the PDT in the Treatment of Epidermal Dysplasia for Patients Affected by Hereditary DEB Withdrawn NCT02004600 Not Applicable

Search NIH Clinical Center for Epidermolysis Bullosa Dystrophica

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Epidermolysis Bullosa Dystrophica cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Epidermolysis Bullosa Dystrophica:
VAVELTA�, a suspension of human dermal fibrolasts for skin disease
Embryonic/Adult Cultured Cells Related to Epidermolysis Bullosa Dystrophica:
Human Dermal Fibroblasts PMIDs: 20722660

Cochrane evidence based reviews: epidermolysis bullosa dystrophica

Genetic Tests for Epidermolysis Bullosa Dystrophica

Genetic tests related to Epidermolysis Bullosa Dystrophica:

# Genetic test Affiliating Genes
1 Dystrophic Epidermolysis Bullosa 29 COL7A1

Anatomical Context for Epidermolysis Bullosa Dystrophica

MalaCards organs/tissues related to Epidermolysis Bullosa Dystrophica:

41
Skin, Eye, Heart, Bone, Colon, Lymph Node, Breast
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Epidermolysis Bullosa Dystrophica:
# Tissue Anatomical CompartmentCell Relevance
1 Dermis Cranial Dermis Dermal Fibroblasts
2 Dermis Ventral Dermis Dermal Fibroblasts
3 Dermis Dorsal Dermis Dermal Fibroblasts

Publications for Epidermolysis Bullosa Dystrophica

Articles related to Epidermolysis Bullosa Dystrophica:

(show top 50) (show all 315)
# Title Authors Year
1
Dominant dystrophic epidermolysis bullosa pruriginosa with a COL7A1 exon 87 c.6898C>T mutation. ( 30168161 )
2019
2
Topical sucralfate cream treatment for aplasia cutis congenita with dystrophic epidermolysis bullosa: a case study. ( 30398936 )
2018
3
Measurement of Skin Adhesion in Recessive Dystrophic Epidermolysis Bullosa Patients. ( 30081112 )
2018
4
Use of dermatoscopy in the detection of squamous cell carcinoma in a patient with recessive dystrophic epidermolysis bullosa. ( 30116669 )
2018
5
APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa. ( 30135250 )
2018
6
Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Using CRISPR/Cas9 and Homology-Directed Repair. ( 30195791 )
2018
7
Cord Blood-Derived Stem Cells Suppress Fibrosis and May Prevent Malignant Progression in Recessive Dystrophic Epidermolysis Bullosa. ( 30247783 )
2018
8
Dystrophic epidermolysis bullosa pruriginosa presenting with flagellate scarring lesions. ( 30288768 )
2018
9
Wound Grafting for the Treatment of Recessive Dystrophic Epidermolysis Bullosa. ( 30413238 )
2018
10
Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency. ( 30463024 )
2018
11
Decorin counteracts disease progression in mice with recessive dystrophic epidermolysis bullosa. ( 30528862 )
2018
12
An algorithmic approach for the management of hand deformities in dystrophic epidermolysis bullosa. ( 28669251 )
2018
13
Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes. ( 29272047 )
2018
14
Inside out: regenerative medicine for recessive dystrophic epidermolysis bullosa. ( 29593249 )
2018
15
Mild dystrophic epidermolysis bullosa associated with homozygous gene mutation c.6216+5G>T in type VII collagen ultrastructurally suggestive of the decreased number of anchoring fibrils. ( 29696689 )
2018
16
Reduced Microbial Diversity Is a Feature of Recessive Dystrophic Epidermolysis Bullosa-Involved Skin and Wounds. ( 29753707 )
2018
17
Murine type VII collagen distorts outcome in human skin graft mouse model for dystrophic epidermolysis bullosa. ( 30019435 )
2018
18
A cost-effective treatment model in dystrophic epidermolysis bullosa with congenital absence of skin. ( 30028558 )
2018
19
Successful forearm prosthesis fitting in a patient with epidermolysis bullosa dystrophica: Case report. ( 28726572 )
2017
20
Next-generation sequencing identified a novel mutation of COL7A1 in a Chinese pedigree of dystrophic epidermolysis bullosa. ( 27293135 )
2017
21
Endoplasmic reticulum stress in the pathogenesis of pretibial dystrophic epidermolysis bullosa. ( 28122411 )
2017
22
Compound Heterozygosity of Dominant and Recessive COL7A Alleles in a Severely Affected Patient with a Family History of Dystrophic Epidermolysis Bullosa: Clinical Findings, Genetic Testing, and Treatment Implications. ( 28297147 )
2017
23
Successful Treatment of Esophageal Stenosis in a Patient with Dystrophic Epidermolysis Bullosa Using Balloon Dilation. ( 28431656 )
2017
24
Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa. ( 28549954 )
2017
25
Betulin-Based Oleogel to Improve Wound Healing in Dystrophic Epidermolysis Bullosa: A Prospective Controlled Proof-of-Concept Study. ( 28611842 )
2017
26
An RNA-targeted therapy for dystrophic epidermolysis bullosa. ( 28973459 )
2017
27
Pain in Patients with Dystrophic Epidermolysis Bullosa: Association with Anxiety and Depression. ( 29209377 )
2017
28
Pretibial dystrophic epidermolysis bullosa. ( 29267469 )
2017
29
Feasibility, efficacy, and safety of ultrasound-guided axillary plexus blockade in pediatric patients with epidermolysis bullosa dystrophica. ( 26857539 )
2016
30
Congenital dystrophic epidermolysis bullosa (DEB) in Sprague Dawley rats: a case series. ( 26914716 )
2016
31
Anesthetic consideration in dystrophic epidermolysis bullosa. ( 26955322 )
2016
32
Toxic Epidermal Necrolysis in Recessive Dystrophic Epidermolysis Bullosa following Bone Marrow Transplantation. ( 26976809 )
2016
33
Oral epigallocatechin-3-gallate for treatment of dystrophic epidermolysis bullosa: a multicentre, randomized, crossover, double-blind, placebo-controlled clinical trial. ( 27015660 )
2016
34
CRISPR/Cas9-based genetic correction for recessive dystrophic epidermolysis bullosa. ( 28250968 )
2016
35
Role of dystrophic epidermolysis bullosa in anxiety, depression and self-esteem: A controlled cross-sectional study. ( 26183725 )
2016
36
A two-step multidisciplinary approach to treat recurrent esophageal strictures in children with epidermolysis bullosa dystrophica. ( 25590175 )
2015
37
Anaesthetic management in a paediatric patient with a difficult airway due to epidermolysis bullosa dystrophica. ( 25497148 )
2015
38
A Case of Dominant Dystrophic Epidermolysis Bullosa Responding Well to an Old Medication. ( 26154424 )
2015
39
Botulinum toxin A injection for chronic anal fissures and anal sphincter spasm improves quality of life in recessive dystrophic epidermolysis bullosa. ( 28491983 )
2015
40
Skipped exon in COL7A1 determines the clinical phenotypes of dystrophic epidermolysis bullosa. ( 25196227 )
2015
41
Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa. ( 25201089 )
2015
42
Rescue of the mucocutaneous manifestations by human cord blood derived nonhematopoietic stem cells in a mouse model of recessive dystrophic epidermolysis bullosa. ( 25640200 )
2015
43
Characterization of patients with dystrophic epidermolysis bullosa for collagen VII therapy. ( 25703736 )
2015
44
Clinical features of gingival lesions in patients with dystrophic epidermolysis bullosa: a cross-sectional study. ( 25721275 )
2015
45
Systemic granulocyte colony-stimulating factor (G-CSF) enhances wound healing in dystrophic epidermolysis bullosa (DEB): Results of a pilot trial. ( 25956659 )
2015
46
Dystrophic epidermolysis bullosa: a review. ( 26064063 )
2015
47
Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family. ( 26102279 )
2015
48
Dystrophic epidermolysis bullosa associated with amniotic band syndrome. ( 24383893 )
2014
49
A recurrent 'hot spot' glycine substitution mutation, G2043R in COL7A1, induces dominant dystrophic epidermolysis bullosa associated with intracytoplasmic accumulation of pro-collagen VII. ( 24794830 )
2014
50
Suprathel(®) -assisted surgical treatment of the hand in a dystrophic epidermolysis bullosa patient. ( 24517465 )
2014

Variations for Epidermolysis Bullosa Dystrophica

ClinVar genetic disease variations for Epidermolysis Bullosa Dystrophica:

6 (show top 50) (show all 229)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL7A1 NM_000094.3(COL7A1): c.4612C> T (p.Arg1538Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs149711883 GRCh37 Chromosome 3, 48619779: 48619779
2 COL7A1 NM_000094.3(COL7A1): c.4612C> T (p.Arg1538Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs149711883 GRCh38 Chromosome 3, 48582346: 48582346
3 COL7A1 NM_000094.3(COL7A1): c.4612C> T (p.Arg1538Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs149711883 NCBI36 Chromosome 3, 48594783: 48594783
4 COL7A1 NM_000094.3(COL7A1): c.6696C> A (p.Pro2232=) single nucleotide variant Conflicting interpretations of pathogenicity rs61729223 GRCh38 Chromosome 3, 48573192: 48573192
5 COL7A1 NM_000094.3(COL7A1): c.6696C> A (p.Pro2232=) single nucleotide variant Conflicting interpretations of pathogenicity rs61729223 GRCh37 Chromosome 3, 48610625: 48610625
6 COL7A1 NM_000094.3(COL7A1): c.4483-11T> C single nucleotide variant Conflicting interpretations of pathogenicity rs74390291 GRCh38 Chromosome 3, 48583059: 48583059
7 COL7A1 NM_000094.3(COL7A1): c.4483-11T> C single nucleotide variant Conflicting interpretations of pathogenicity rs74390291 GRCh37 Chromosome 3, 48620492: 48620492
8 COL7A1 NM_000094.3(COL7A1): c.3830C> T (p.Pro1277Leu) single nucleotide variant Benign/Likely benign rs35761247 GRCh38 Chromosome 3, 48585691: 48585691
9 COL7A1 NM_000094.3(COL7A1): c.3830C> T (p.Pro1277Leu) single nucleotide variant Benign/Likely benign rs35761247 GRCh37 Chromosome 3, 48623124: 48623124
10 COL7A1 NM_000094.3(COL7A1): c.3139+12G> A single nucleotide variant Benign rs2255532 GRCh38 Chromosome 3, 48587178: 48587178
11 COL7A1 NM_000094.3(COL7A1): c.3139+12G> A single nucleotide variant Benign rs2255532 GRCh37 Chromosome 3, 48624611: 48624611
12 COL7A1 NM_000094.3(COL7A1): c.2817A> G (p.Pro939=) single nucleotide variant Benign rs1264194 GRCh38 Chromosome 3, 48587833: 48587833
13 COL7A1 NM_000094.3(COL7A1): c.2817A> G (p.Pro939=) single nucleotide variant Benign rs1264194 GRCh37 Chromosome 3, 48625266: 48625266
14 COL7A1 NM_000094.3(COL7A1): c.1784C> T (p.Pro595Leu) single nucleotide variant Benign rs2228561 GRCh38 Chromosome 3, 48590581: 48590581
15 COL7A1 NM_000094.3(COL7A1): c.1784C> T (p.Pro595Leu) single nucleotide variant Benign rs2228561 GRCh37 Chromosome 3, 48628014: 48628014
16 COL7A1 NM_000094.3(COL7A1): c.*40A> T single nucleotide variant Uncertain significance rs886058627 GRCh38 Chromosome 3, 48564366: 48564366
17 COL7A1 NM_000094.3(COL7A1): c.*40A> T single nucleotide variant Uncertain significance rs886058627 GRCh37 Chromosome 3, 48601799: 48601799
18 COL7A1 NM_000094.3(COL7A1): c.8568C> T (p.Ser2856=) single nucleotide variant Uncertain significance rs148454724 GRCh38 Chromosome 3, 48565161: 48565161
19 COL7A1 NM_000094.3(COL7A1): c.8568C> T (p.Ser2856=) single nucleotide variant Uncertain significance rs148454724 GRCh37 Chromosome 3, 48602594: 48602594
20 COL7A1 NM_000094.3(COL7A1): c.8280A> G (p.Gly2760=) single nucleotide variant Uncertain significance rs374365287 GRCh38 Chromosome 3, 48566684: 48566684
21 COL7A1 NM_000094.3(COL7A1): c.8280A> G (p.Gly2760=) single nucleotide variant Uncertain significance rs374365287 GRCh37 Chromosome 3, 48604117: 48604117
22 COL7A1 NM_000094.3(COL7A1): c.8095G> A (p.Glu2699Lys) single nucleotide variant Uncertain significance rs200938473 GRCh38 Chromosome 3, 48567142: 48567142
23 COL7A1 NM_000094.3(COL7A1): c.8095G> A (p.Glu2699Lys) single nucleotide variant Uncertain significance rs200938473 GRCh37 Chromosome 3, 48604575: 48604575
24 COL7A1 NM_000094.3(COL7A1): c.7273G> T (p.Gly2425Cys) single nucleotide variant Uncertain significance rs886058633 GRCh38 Chromosome 3, 48570710: 48570710
25 COL7A1 NM_000094.3(COL7A1): c.7273G> T (p.Gly2425Cys) single nucleotide variant Uncertain significance rs886058633 GRCh37 Chromosome 3, 48608143: 48608143
26 COL7A1 NM_000094.3(COL7A1): c.7048C> T (p.Pro2350Ser) single nucleotide variant Uncertain significance rs749870307 GRCh38 Chromosome 3, 48572021: 48572021
27 COL7A1 NM_000094.3(COL7A1): c.7048C> T (p.Pro2350Ser) single nucleotide variant Uncertain significance rs749870307 GRCh37 Chromosome 3, 48609454: 48609454
28 COL7A1 NM_000094.3(COL7A1): c.7037G> A (p.Arg2346His) single nucleotide variant Uncertain significance rs201432371 GRCh38 Chromosome 3, 48572032: 48572032
29 COL7A1 NM_000094.3(COL7A1): c.7037G> A (p.Arg2346His) single nucleotide variant Uncertain significance rs201432371 GRCh37 Chromosome 3, 48609465: 48609465
30 COL7A1 NM_000094.3(COL7A1): c.5307+7G> C single nucleotide variant Uncertain significance rs116455408 GRCh38 Chromosome 3, 48579362: 48579362
31 COL7A1 NM_000094.3(COL7A1): c.5307+7G> C single nucleotide variant Uncertain significance rs116455408 GRCh37 Chromosome 3, 48616795: 48616795
32 COL7A1 NM_000094.3(COL7A1): c.5154+5T> C single nucleotide variant Uncertain significance rs2854400 GRCh38 Chromosome 3, 48579780: 48579780
33 COL7A1 NM_000094.3(COL7A1): c.5154+5T> C single nucleotide variant Uncertain significance rs2854400 GRCh37 Chromosome 3, 48617213: 48617213
34 COL7A1 NM_000094.3(COL7A1): c.4944G> A (p.Pro1648=) single nucleotide variant Uncertain significance rs111360822 GRCh38 Chromosome 3, 48580918: 48580918
35 COL7A1 NM_000094.3(COL7A1): c.4944G> A (p.Pro1648=) single nucleotide variant Uncertain significance rs111360822 GRCh37 Chromosome 3, 48618351: 48618351
36 COL7A1 NM_000094.3(COL7A1): c.4927G> A (p.Gly1643Ser) single nucleotide variant Uncertain significance rs886058638 GRCh38 Chromosome 3, 48581130: 48581130
37 COL7A1 NM_000094.3(COL7A1): c.4927G> A (p.Gly1643Ser) single nucleotide variant Uncertain significance rs886058638 GRCh37 Chromosome 3, 48618563: 48618563
38 COL7A1 NM_000094.3(COL7A1): c.4048-15T> A single nucleotide variant Uncertain significance rs367995901 GRCh38 Chromosome 3, 48584571: 48584571
39 COL7A1 NM_000094.3(COL7A1): c.4048-15T> A single nucleotide variant Uncertain significance rs367995901 GRCh37 Chromosome 3, 48622004: 48622004
40 COL7A1 NM_000094.3(COL7A1): c.3975+11C> T single nucleotide variant Likely benign rs7637885 GRCh38 Chromosome 3, 48585025: 48585025
41 COL7A1 NM_000094.3(COL7A1): c.3975+11C> T single nucleotide variant Likely benign rs7637885 GRCh37 Chromosome 3, 48622458: 48622458
42 COL7A1 NM_000094.3(COL7A1): c.3753T> C (p.Cys1251=) single nucleotide variant Uncertain significance rs764349883 GRCh38 Chromosome 3, 48585946: 48585946
43 COL7A1 NM_000094.3(COL7A1): c.3753T> C (p.Cys1251=) single nucleotide variant Uncertain significance rs764349883 GRCh37 Chromosome 3, 48623379: 48623379
44 COL7A1 NM_000094.3(COL7A1): c.3412G> A (p.Val1138Met) single nucleotide variant Uncertain significance rs145048666 GRCh38 Chromosome 3, 48586470: 48586470
45 COL7A1 NM_000094.3(COL7A1): c.3412G> A (p.Val1138Met) single nucleotide variant Uncertain significance rs145048666 GRCh37 Chromosome 3, 48623903: 48623903
46 COL7A1 NM_000094.3(COL7A1): c.3233G> A (p.Arg1078His) single nucleotide variant Uncertain significance rs748471791 GRCh38 Chromosome 3, 48587015: 48587015
47 COL7A1 NM_000094.3(COL7A1): c.3233G> A (p.Arg1078His) single nucleotide variant Uncertain significance rs748471791 GRCh37 Chromosome 3, 48624448: 48624448
48 COL7A1 NM_000094.3(COL7A1): c.2146A> G (p.Arg716Gly) single nucleotide variant Uncertain significance rs143040168 GRCh37 Chromosome 3, 48627056: 48627056
49 COL7A1 NM_000094.3(COL7A1): c.2146A> G (p.Arg716Gly) single nucleotide variant Uncertain significance rs143040168 GRCh38 Chromosome 3, 48589623: 48589623
50 COL7A1 NM_000094.3(COL7A1): c.1628G> A (p.Ser543Asn) single nucleotide variant Uncertain significance rs76410546 GRCh37 Chromosome 3, 48628905: 48628905

Expression for Epidermolysis Bullosa Dystrophica

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

Pathways for Epidermolysis Bullosa Dystrophica

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.9 COL7A1 FBN1 MMP1 MMP10 MMP3
2
Show member pathways
12.34 BMP1 COL7A1 DST MMP3
3
Show member pathways
11.82 BMP1 COL7A1 DST FBN1 MMP1 MMP10
4
Show member pathways
11.46 COL7A1 FBN1 MMP1 MMP10 MMP3
5
Show member pathways
11.43 MMP1 MMP10 MMP3
6
Show member pathways
11.23 MMP1 MMP3
7 11.12 MMP1 MMP10 MMP3
8 11 MMP1 MMP3

GO Terms for Epidermolysis Bullosa Dystrophica

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.72 BMP1 COL7A1 FBN1 MMP10 MMP3
2 extracellular region GO:0005576 9.63 BMP1 COL7A1 FBN1 MMP1 MMP10 MMP3
3 collagen-containing extracellular matrix GO:0062023 9.43 COL7A1 FBN1 FLG
4 basement membrane GO:0005604 9.13 COL7A1 DST FBN1
5 extracellular matrix GO:0031012 9.02 COL7A1 FBN1 MMP1 MMP10 MMP3

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

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.56 BMP1 MMP1 MMP10 MMP3
2 positive regulation of protein oligomerization GO:0032461 9.16 MMP1 MMP3
3 collagen catabolic process GO:0030574 9.13 MMP1 MMP10 MMP3
4 extracellular matrix disassembly GO:0022617 8.92 BMP1 MMP1 MMP10 MMP3

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

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.67 BMP1 MMP1 MMP10 MMP3
2 calcium ion binding GO:0005509 9.62 BMP1 DST FBN1 FLG
3 peptidase activity GO:0008233 9.56 BMP1 MMP1 MMP10 MMP3
4 serine-type endopeptidase activity GO:0004252 9.46 BMP1 MMP1 MMP10 MMP3
5 metallopeptidase activity GO:0008237 9.26 BMP1 MMP1 MMP10 MMP3
6 metalloendopeptidase activity GO:0004222 8.92 BMP1 MMP1 MMP10 MMP3

Sources for Epidermolysis Bullosa Dystrophica

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
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