MCID: EPD009
MIFTS: 54

Epidermolysis Bullosa Dystrophica

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 39 12 25 54 26 45 15 17 74
Dystrophic Epidermolysis Bullosa 12 77 25 54 26 30 6
Deb 25 54
Epidermolysis Bullosa, Dermolytic 54
Epidermolysis Bullosa, Dystrophic 26
Dermolytic Epidermolysis Bullosa 54
Epidermolysis Bullosa Dystrophic 56

Characteristics:

GeneReviews:

25
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 penetrance therefore appears to be less than 100%, at least in ddeb [almaani et al 2011; authors, unpublished observations]...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 : 54 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 Pregabalin and Calcium have been mentioned in the context of this disorder. Affiliated tissues include Dermis and Dermis, and related phenotypes are abnormal blistering of the skin and aplasia/hypoplasia of the skin

Disease Ontology : 12 An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has material basis in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.

Genetics Home Reference : 26 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 : 77 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 34.9 COL7A1 MMP1
2 epidermolysis bullosa pruriginosa 32.8 COL7A1 FLG MMP1
3 recessive dystrophic epidermolysis bullosa 32.4 COL7A1 FLG MMP1 PLOD3
4 epidermolysis bullosa dystrophica, autosomal dominant 12.9
5 epidermolysis bullosa dystrophica, pretibial 12.8
6 epidermolysis bullosa dystrophica neurotrophica 12.4
7 transient bullous dermolysis of the newborn 12.2
8 epidermolysis bullosa with congenital localized absence of skin and deformity of nails 12.2
9 nail disorder, nonsyndromic congenital, 8 11.8
10 dominant dystrophic epidermolysis bullosa 11.5
11 epidermolysis bullosa 11.3
12 squamous cell carcinoma 10.7
13 amyloidosis 10.6
14 recessive dystrophic epidermolysis bullosa-generalized other 10.5
15 dominant dystrophic epidermolysis bullosa, nails only 10.5
16 acral dystrophic epidermolysis bullosa 10.5
17 centripetalis recessive dystrophic epidermolysis bullosa 10.5
18 dermatitis 10.5
19 aceruloplasminemia 10.4
20 iga glomerulonephritis 10.4
21 dermatitis, atopic 10.3
22 anxiety 10.3
23 chronic ulcer of skin 10.3
24 cataract 10.3
25 glomerulonephritis 10.3
26 melanoma in congenital melanocytic nevus 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 superior limbic keratoconjunctivitis 10.3 MMP1 MMP3
33 osteoporosis 10.3
34 pelger-huet anomaly 10.3
35 chromosome 2q35 duplication syndrome 10.3
36 osteogenic sarcoma 10.3
37 dilated cardiomyopathy 10.3
38 sclerocornea 10.3
39 cornea plana 10.3
40 sarcoma 10.3
41 hyperglobulinemic purpura 10.3
42 purpura 10.3
43 epidermolysis bullosa acquisita 10.3
44 colonic disease 10.3
45 pityriasis rosea 10.3
46 spastic entropion 10.3 MMP1 MMP3
47 tendinopathy 10.3 MMP1 MMP3
48 adult astrocytic tumour 10.2 MMP1 MMP3
49 conjunctivochalasis 10.2 MMP1 MMP3
50 corneal edema 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:

33 (show all 43)
# Description HPO Frequency HPO Source Accession
1 abnormal blistering of the skin 33 hallmark (90%) HP:0008066
2 aplasia/hypoplasia of the skin 33 hallmark (90%) HP:0008065
3 cheilitis 33 hallmark (90%) HP:0100825
4 dystrophic toenail 33 hallmark (90%) HP:0001810
5 dystrophic fingernails 33 hallmark (90%) HP:0008391
6 finger syndactyly 33 frequent (33%) HP:0006101
7 dysphagia 33 frequent (33%) HP:0002015
8 carious teeth 33 frequent (33%) HP:0000670
9 hypopigmented skin patches 33 frequent (33%) HP:0001053
10 abnormality of dental enamel 33 frequent (33%) HP:0000682
11 camptodactyly of finger 33 frequent (33%) HP:0100490
12 toe syndactyly 33 frequent (33%) HP:0001770
13 flexion contracture of toe 33 frequent (33%) HP:0005830
14 furrowed tongue 33 frequent (33%) HP:0000221
15 gangrene 33 frequent (33%) HP:0100758
16 recurrent skin infections 33 frequent (33%) HP:0001581
17 laryngeal stenosis 33 frequent (33%) HP:0001602
18 milia 33 frequent (33%) HP:0001056
19 esophageal stricture 33 frequent (33%) HP:0002043
20 failure to thrive 33 occasional (7.5%) HP:0001508
21 hearing impairment 33 occasional (7.5%) HP:0000365
22 chronic otitis media 33 occasional (7.5%) HP:0000389
23 renal insufficiency 33 occasional (7.5%) HP:0000083
24 anemia 33 occasional (7.5%) HP:0001903
25 congestive heart failure 33 occasional (7.5%) HP:0001635
26 corneal erosion 33 occasional (7.5%) HP:0200020
27 dilated cardiomyopathy 33 occasional (7.5%) HP:0001644
28 nephrotic syndrome 33 occasional (7.5%) HP:0000100
29 glomerulopathy 33 occasional (7.5%) HP:0100820
30 blepharitis 33 occasional (7.5%) HP:0000498
31 eczema 33 occasional (7.5%) HP:0000964
32 stroke 33 occasional (7.5%) HP:0001297
33 nasolacrimal duct obstruction 33 occasional (7.5%) HP:0000579
34 ectropion 33 occasional (7.5%) HP:0000656
35 squamous cell carcinoma 33 occasional (7.5%) HP:0002860
36 immunologic hypersensitivity 33 occasional (7.5%) HP:0100326
37 abnormality of the anus 33 occasional (7.5%) HP:0004378
38 urinary retention 33 occasional (7.5%) HP:0000016
39 interstitial pulmonary abnormality 33 occasional (7.5%) HP:0006530
40 ureteral stenosis 33 occasional (7.5%) HP:0000071
41 scarring 33 occasional (7.5%) HP:0100699
42 phimosis 33 occasional (7.5%) HP:0001741
43 acute constipation 33 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 top 50) (show all 56)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pregabalin Approved, Illicit, Investigational Phase 3 148553-50-8 5486971
2
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
3 Central Nervous System Depressants Phase 3
4 Peripheral Nervous System Agents Phase 3
5 Hormones Phase 3
6 Psychotropic Drugs Phase 3
7 calcium channel blockers Phase 3
8 Anti-Anxiety Agents Phase 3
9 Analgesics Phase 3
10 Calcium, Dietary Phase 3
11 Anticonvulsants Phase 3
12 Tranquilizing Agents Phase 3
13
Lenograstim Approved, Investigational Phase 2 135968-09-1
14
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
15
Epigallocatechin gallate Investigational Phase 2 989-51-5 65064
16
Epigallocatechin Experimental, Investigational Phase 2 970-74-1 72277
17
Imidacloprid Vet_approved Phase 1, Phase 2 105827-78-9 86418
18 Mitogens Phase 1, Phase 2
19 Neuroprotective Agents Phase 2
20 Protective Agents Phase 2
21 Antioxidants Phase 2
22 Adjuvants, Immunologic Phase 2
23 Immunologic Factors Phase 2,Not Applicable
24 Anti-Infective Agents Phase 1, Phase 2,Phase 2,Not Applicable
25 Anti-Bacterial Agents Phase 1, Phase 2,Phase 2,Not Applicable
26 Gentamicins Phase 1, Phase 2,Phase 2,Not Applicable
27 Antibiotics, Antitubercular Phase 1, Phase 2,Not Applicable
28 Anti-Inflammatory Agents Phase 1, Phase 2
29 Anesthetics Phase 1, Phase 2
30 Anesthetics, General Phase 1, Phase 2
31 Protein Kinase Inhibitors Phase 1, Phase 2
32 ON 01910 Phase 1, Phase 2
33 Pharmaceutical Solutions Phase 1, Phase 2,Phase 2
34
Isotretinoin Approved Phase 1 4759-48-2 5282379 5538
35 Dermatologic Agents Phase 1
36
Pentetic acid Approved 67-43-6
37
Heparin Approved, Investigational 9005-49-6 46507594 772
38
Edetic Acid Approved, Vet_approved 60-00-4, 62-33-9 6049
39
Fludarabine Approved Early Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
40
Tacrolimus Approved, Investigational Early Phase 1 104987-11-3 6473866 445643 439492
41
Lorazepam Approved Early Phase 1 846-49-1 3958
42
alemtuzumab Approved, Investigational Early Phase 1 216503-57-0
43
Busulfan Approved, Investigational Early Phase 1,Not Applicable 55-98-1 2478
44
Petrolatum Approved, Investigational Not Applicable 8009-03-8
45
Cyclophosphamide Approved, Investigational Not Applicable 50-18-0, 6055-19-2 2907
46 Autoantibodies
47 Antibodies
48 calcium heparin
49 Immunoglobulins
50 Endothelial Growth Factors

Interventional clinical trials:

(show all 36)
# 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 Pregabalin Treatment for RDEB Pain and Itch Not yet recruiting NCT03928093 Phase 3 Pregabalin
3 Safety and Efficacy of Apligraf in Nonhealing Wounds of Subjects With Junctional or Dystrophic Epidermolysis Bullosa (EB) Terminated NCT00587223 Phase 3
4 Study to Evaluate the Safety of ALLO-ASC-DFU in the Subjects With Dystrophic Epidermolysis Bullosa Unknown status NCT02579369 Phase 1, Phase 2
5 Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis Bullosa Unknown status NCT02323789 Phase 1, Phase 2 Mesenchymal stromal cells
6 Treatment of Epidermolysis Bullosa Dystrophica by Polyphenon E (Epigallocatechin 3 Gallate) Completed NCT00951964 Phase 2 Polyphenon E before Placebo;placebo before treatment
7 Efficacy of Granulocyte Colony Stimulating Factor (GCSF) In Patients With Dystrophic Epidermolysis Bullosa Completed NCT01538862 Phase 2 Granulocyte Colony Stimulating Factor (GCSF)
8 Gentamicin for RDEB Completed NCT03012191 Phase 1, Phase 2 Gentamicin Sulfate
9 A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT02810951 Phase 1, Phase 2
10 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
11 Topical Bercolagene Telserpavec (KB103) Gene Therapy to Restore Functional Collagen VII for the Treatment of Dystrophic Epidermolysis Bullosa Recruiting NCT03536143 Phase 2
12 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
13 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
14 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)
15 Intravenous Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT03392909 Phase 1, Phase 2 Gentamicin
16 Allogeneic ABCB5-positive Stem Cells for Treatment of Epidermolysis Bullosa Recruiting NCT03529877 Phase 1, Phase 2
17 Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT01263379 Phase 1, Phase 2
18 Rigosertib for RDEB-SCC Not yet recruiting NCT03786237 Phase 1, Phase 2 Rigosertib Oral Capsules / Rigosertib Oral Liquid Solution / Rigosertib Intravenous
19 A Pilot Study of HP802-247 in Dystrophic Epidermolysis Bullosa Withdrawn NCT01528306 Phase 2
20 Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis Bullosa Completed NCT02493816 Phase 1 Gene-modified autologous fibroblasts
21 Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00014729 Phase 1 isotretinoin
22 Autologous Transplantation of Cultured Fibroblast on Amniotic Membrane in Patients With Epidermolysis Bullosa Completed NCT01908088 Phase 1
23 Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT01874769
24 Allogeneic Stem Cell Transplantation (ALLOSCT) in Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT00881556 Early Phase 1 Reduced Intensity Transplant conditioning
25 Characteristics of Adult Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00904163
26 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
27 Short Term Observational Study in DEB Patients Completed NCT02178969
28 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients Completed NCT02698735 Not Applicable Gentamicin;Placebo
29 Uses of Irradiated Human Amniotic Membrane in the Treatment of Dystrophic Epidermolysis Bullosa Patients Completed NCT03942250 Not Applicable
30 Proof of Concept Study for a Dressing Glove Completed NCT03241628
31 Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa Recruiting NCT01019148
32 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
33 Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene Transfer Terminated NCT00533572
34 Allogeneic Hematopoietic Stem Cell Transplant For Epidermolysis Bullosa Terminated NCT00478244 Not Applicable busulfan;cyclophosphamide;fludarabine phosphate
35 Prospective, Longitudinal Natural History Study in Dystrophic Epidermolysis Bullosa Withdrawn NCT01768026
36 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 30 COL7A1

Anatomical Context for Epidermolysis Bullosa Dystrophica

MalaCards organs/tissues related to Epidermolysis Bullosa Dystrophica:

42
Skin, Bone, Bone Marrow, Eye, Heart, Tongue, Endothelial
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 880)
# Title Authors Year
1
Dilated Cardiomyopathy in a Child with Recessive Dystrophic Epidermolysis Bullosa. ( 29699768 )
2019
2
Dominant dystrophic epidermolysis bullosa pruriginosa with a COL7A1 exon 87 c.6898C>T mutation. ( 30168161 )
2019
3
Patent landscape of molecular and cellular targeted therapies for recessive dystrophic epidermolysis bullosa. ( 31017019 )
2019
4
Cultured epidermal autografts from clinically revertant skin as a potential wound treatment for recessive dystrophic epidermolysis bullosa. ( 31054844 )
2019
5
Successful correction of pseudosyndactyly in recessive dystrophic epidermolysis bullosa using full thickness skin graft in resource-poor settings. ( 31089008 )
2019
6
Dystrophic epidermolysis bullosa pruriginosa presenting with flagellate scarring lesions. ( 30288768 )
2019
7
Retrospective longitudinal study of osteoporosis in adults with recessive dystrophic epidermolysis bullosa. ( 30656009 )
2019
8
Thrombospondin-1 Is a Major Activator of TGF-β Signaling in Recessive Dystrophic Epidermolysis Bullosa Fibroblasts. ( 30684555 )
2019
9
miR-145-5p regulates fibrotic features of recessive dystrophic epidermolysis bullosa skin fibroblasts. ( 30816994 )
2019
10
Image Gallery: Multiple localized lipoatrophy in recessive dystrophic epidermolysis bullosa. ( 30821372 )
2019
11
Wound healing deficits in severe generalized recessive dystrophic epidermolysis bullosa along anticancer treatment with cetuximab. ( 30821421 )
2019
12
Efficient gene reframing therapy for recessive dystrophic epidermolysis bullosa using CRISPR/Cas9. ( 30831133 )
2019
13
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
14
Identification of rigosertib for the treatment of recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma. ( 30846478 )
2019
15
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
16
Revertant Mosaic Fibroblasts in Recessive Dystrophic Epidermolysis Bullosa. ( 30924923 )
2019
17
Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing. ( 30930113 )
2019
18
Recessive Dystrophic Epidermolysis Bullosa and Pregnancy. ( 29203033 )
2019
19
Endoscopic balloon dilation of oesophageal stenosis in a patient with recessive dystrophic epidermolysis bullosa. ( 29500068 )
2019
20
Topical sucralfate cream treatment for aplasia cutis congenita with dystrophic epidermolysis bullosa: a case study. ( 30398936 )
2018
21
Large Deletions Targeting the Triple-Helical Domain of Collagen VII Lead to Mild Acral Dominant Dystrophic Epidermolysis Bullosa. ( 29179948 )
2018
22
Dystrophic Epidermolysis Bullosa. ( 31065125 )
2018
23
Genotype-Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre. ( 29963685 )
2018
24
Murine type VII collagen distorts outcome in human skin graft mouse model for dystrophic epidermolysis bullosa. ( 30019435 )
2018
25
A cost-effective treatment model in dystrophic epidermolysis bullosa with congenital absence of skin. ( 30028558 )
2018
26
Measurement of Skin Adhesion in Recessive Dystrophic Epidermolysis Bullosa Patients. ( 30081112 )
2018
27
Use of dermatoscopy in the detection of squamous cell carcinoma in a patient with recessive dystrophic epidermolysis bullosa. ( 30116669 )
2018
28
APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa. ( 30135250 )
2018
29
Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Using CRISPR/Cas9 and Homology-Directed Repair. ( 30195791 )
2018
30
Cord Blood-Derived Stem Cells Suppress Fibrosis and May Prevent Malignant Progression in Recessive Dystrophic Epidermolysis Bullosa. ( 30247783 )
2018
31
Wound Grafting for the Treatment of Recessive Dystrophic Epidermolysis Bullosa. ( 30413238 )
2018
32
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
33
Decorin counteracts disease progression in mice with recessive dystrophic epidermolysis bullosa. ( 30528862 )
2018
34
Small Intestinal Submucosa Matrix as a Novel Therapy for Wounds in Dystrophic Epidermolysis Bullosa. ( 30608297 )
2018
35
Oral manifestations as the main feature of late-onset recessive dystrophic epidermolysis bullosa. ( 29080321 )
2018
36
Establishment of integration-free induced pluripotent stem cells from human recessive dystrophic epidermolysis bullosa keratinocytes. ( 29229433 )
2018
37
Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes. ( 29272047 )
2018
38
Genetic Profiles of Squamous Cell Carcinomas Associated with Recessive Dystrophic Epidermolysis Bullosa Unveil NOTCH and TP53 Mutations and an Increased MYC Expression. ( 29291383 )
2018
39
Cultured allogeneic fibroblast injection vs. fibroblasts cultured on amniotic membrane scaffold for dystrophic epidermolysis bullosa treatment. ( 29330848 )
2018
40
Epidermal aspects of type VII collagen: Implications for dystrophic epidermolysis bullosa and epidermolysis bullosa acquisita. ( 29352483 )
2018
41
First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru. ( 29427316 )
2018
42
Translating the combination of gene therapy and tissue engineering for treating recessive dystrophic epidermolysis bullosa. ( 29441510 )
2018
43
Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico. ( 29473190 )
2018
44
Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial. ( 29500833 )
2018
45
The clinical phenotype and a novel COL7A1 mutation in a Chinese family with dystrophic epidermolysis bullosa pruriginosa. ( 29512192 )
2018
46
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
47
Five Novel COL7A1 Gene Mutations in Three Chinese Patients with Recessive Dystrophic Epidermolysis Bullosa. ( 29531004 )
2018
48
Inside out: regenerative medicine for recessive dystrophic epidermolysis bullosa. ( 29593249 )
2018
49
A multitask clustering approach for single-cell RNA-seq analysis in Recessive Dystrophic Epidermolysis Bullosa. ( 29630593 )
2018
50
Dual mechanism of type VII collagen transfer by bone marrow mesenchymal stem cell extracellular vesicles to recessive dystrophic epidermolysis bullosa fibroblasts. ( 29653141 )
2018

Variations for Epidermolysis Bullosa Dystrophica

ClinVar genetic disease variations for Epidermolysis Bullosa Dystrophica:

6 (show top 50) (show all 231)
# 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 GRCh38 Chromosome 3, 48589623: 48589623
49 COL7A1 NM_000094.3(COL7A1): c.2146A> G (p.Arg716Gly) single nucleotide variant Uncertain significance rs143040168 GRCh37 Chromosome 3, 48627056: 48627056
50 COL7A1 NM_000094.3(COL7A1): c.1628G> A (p.Ser543Asn) single nucleotide variant Uncertain significance rs76410546 GRCh38 Chromosome 3, 48591472: 48591472

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 MMP3 PLOD3
3
Show member pathways
11.82 BMP1 COL7A1 FBN1 MMP1 MMP10 MMP3
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 region GO:0005576 9.73 BMP1 COL7A1 FBN1 MMP1 MMP10 MMP3
2 extracellular space GO:0005615 9.63 BMP1 COL7A1 FBN1 MMP10 MMP3 PLOD3
3 collagen-containing extracellular matrix GO:0062023 9.26 COL7A1 FBN1 FLG PLOD3
4 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 9.62 BMP1 MMP1 MMP10 MMP3
2 peptidase activity GO:0008233 9.56 BMP1 MMP1 MMP10 MMP3
3 metallopeptidase activity GO:0008237 9.26 BMP1 MMP1 MMP10 MMP3
4 serine-type endopeptidase activity GO:0004252 9.16 MMP1 MMP3
5 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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50 NCI
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55 NINDS
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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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