DEB
MCID: EPD009
MIFTS: 66

Epidermolysis Bullosa Dystrophica (DEB)

Categories: Cancer diseases, 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 12 25 20 43 58 44 15 37 17 70 32
Dystrophic Epidermolysis Bullosa 12 73 25 20 43 58 29 6
Deb 25 20 43 58
Dermolytic Epidermolysis Bullosa 20 58
Epidermolysis Bullosa, Dermolytic 20
Epidermolysis Bullosa, Dystrophic 43
Epidermolysis Bullosa Dystrophic 54

Characteristics:

Orphanet epidemiological data:

58
dystrophic epidermolysis bullosa
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (Australia); Age of onset: Infancy,Neonatal;

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 penetrance therefore appears to be less than 100%, at least in ddeb [almaani et al 2011; authors, unpublished observations].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:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Epidermolysis Bullosa Dystrophica

MedlinePlus Genetics : 43 Dystrophic epidermolysis bullosa is one of the major forms of a group of conditions called epidermolysis bullosa. Epidermolysis bullosa 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. The signs and symptoms of dystrophic epidermolysis bullosa 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, scarring, and other serious medical problems.Researchers classify dystrophic epidermolysis bullosa into major types based on the inheritance pattern and features of the condition. Although the types differ in severity, their features overlap significantly and they are caused by mutations in the same gene.Recessive dystrophic epidermolysis bullosa severe generalized (RDEB-sev gen) is the classic form of the condition and is the most severe. Affected infants are typically born with widespread blistering and areas of missing skin, often caused by trauma that occurs during birth. Most often, blisters are present over the whole body and affect mucous membranes such as the moist lining of the mouth and digestive tract. As the blisters heal, they result in severe scarring. Scarring in the mouth and esophagus can make it difficult to chew and swallow food, leading to chronic malnutrition and slow growth. Additional complications of ongoing scarring can include fusion of the skin between the fingers and toes, loss of fingernails and toenails, joint deformities (contractures) that restrict movement, and eye inflammation leading to vision loss. Additionally, people with RDEB-sev gen have a very high risk of developing a form of skin cancer called squamous cell carcinoma in young adulthood. In these individuals, the cancer tends to be unusually aggressive and is often life-threatening.Other types of recessive dystrophic epidermolysis bullosa fall along a spectrum referred to as RDEB-generalized and localized (RDEB-gen and -loc). These forms of the condition are somewhat less severe than RDEB-sev gen and are distinguished by the affected regions of the body. Blistering is often limited to the hands, feet, knees, and elbows in mild cases, but may be widespread in more severe cases. Rare forms affect specific regions of the body, such as the shins or the abdomen. Affected people often have malformed fingernails and toenails. The RDEB-gen and -loc types involve scarring in the areas where blisters occur, but these forms of the condition do not cause the severe scarring characteristic of RDEB-sev gen.Another major type of this condition is known as dominant dystrophic epidermolysis bullosa (DDEB). The signs and symptoms of this condition tend to be milder than those of the recessive forms, with blistering often limited to the hands, feet, knees, and elbows. The blisters heal with scarring, but it is less severe than in recessive forms of this condition. Most affected people have malformed fingernails and toenails, and the nails may be lost over time. In the mildest cases, abnormal nails are the only sign of the condition.

MalaCards based summary : Epidermolysis Bullosa Dystrophica, also known as dystrophic epidermolysis bullosa, is related to epidermolysis bullosa dystrophica, autosomal recessive and transient bullous dermolysis of the newborn. 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 Cell junction organization. The drugs Pregabalin and Psychotropic Drugs have been mentioned in the context of this disorder. Affiliated tissues include Dermis, and related phenotypes are aplasia/hypoplasia of the skin and cheilitis

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.

GARD : 20 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.

Wikipedia : 73 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 277)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa dystrophica, autosomal recessive 33.7 MMP1 COL7A1
2 transient bullous dermolysis of the newborn 33.2 DR1 COL7A1
3 epidermolysis bullosa pruriginosa 32.6 MMP1 FLG COL7A1
4 nail disorder, nonsyndromic congenital, 8 32.4 LAMB3 LAMA3 COL7A1
5 inherited epidermolysis bullosa 31.4 LAMA3 COL7A1
6 recessive dystrophic epidermolysis bullosa 31.4 PLOD3 MMP1 MIR711 LAMB3 IVL FLG
7 epidermolysis bullosa 30.9 PLEC MMP1 LAMB3 LAMA3 KRT5 KRT14
8 keratosis 30.9 KRT5 KRT14 IVL FLG
9 pemphigoid 30.8 DST COL17A1
10 pyloric atresia 30.8 PLEC COL17A1
11 nail disorder, nonsyndromic congenital, 9 30.7 COL7A1 COL17A1
12 ichthyosis 30.7 KRT5 IVL FLG COL7A1
13 skin atrophy 30.7 MMP1 FLG FERMT1
14 epidermolysis bullosa acquisita 30.7 LAMA3 DST COL7A1 COL17A1
15 epidermolysis bullosa simplex, localized 30.6 PLEC KRT5 KRT14
16 kindler syndrome 30.6 PLEC LAMB3 FERMT1 DST COL7A1 COL17A1
17 skin carcinoma 30.6 MMP10 MMP1 KRT5 KRT14 IVL FLG
18 epidermolysis bullosa simplex, dowling-meara type 30.5 PLEC KRT5 KRT14 COL7A1
19 lichen planus 30.5 IVL FLG DST COL17A1
20 epidermolysis bullosa simplex with mottled pigmentation 30.5 PLEC KRT5 KRT14 FERMT1
21 epidermolysis bullosa simplex, generalized 30.4 PLEC KRT5 KRT14 COL17A1
22 papilloma 30.4 KRT5 KRT14 IVL FLG
23 epidermolysis bullosa simplex with muscular dystrophy 30.3 PLEC LAMA3 DST COL17A1
24 bullous skin disease 30.3 PLEC LAMA3 DST COL17A1
25 bullous pemphigoid 30.1 PLEC LAMB3 LAMA3 KRT5 KRT14 IVL
26 basal cell carcinoma 30.1 MMP3 MMP1 KRT5 KRT14 IVL DST
27 marfan syndrome 30.0 MMP3 MMP1 FBN1
28 epidermolytic hyperkeratosis 30.0 PLEC KRT5 KRT14 IVL FLG COL7A1
29 junctional epidermolysis bullosa 29.9 PLEC LAMB3 LAMA3 KRT5 KRT14 FERMT1
30 skin disease 29.8 PLEC MMP1 LAMB3 LAMA3 KRT5 KRT14
31 epidermolysis bullosa simplex 29.6 PLEC LAMA3 KRT5 KRT14 IVL FLG
32 epidermolysis bullosa dystrophica, autosomal dominant 12.1
33 recessive dystrophic epidermolysis bullosa-generalized other 11.9
34 epidermolysis bullosa with congenital localized absence of skin and deformity of nails 11.8
35 epidermolysis bullosa dystrophica, pretibial 11.7
36 localized dystrophic epidermolysis bullosa 11.3
37 epidermolysis bullosa dystrophica neurotrophica 11.3
38 nonsyndromic congenital nail disorder 11.3
39 erythrokeratoderma ''en cocardes'' 10.9
40 chronic ulcer of skin 10.7
41 rare genetic skin disease 10.6
42 atrial standstill 1 10.5
43 dysphagia 10.5
44 verruciform xanthoma of skin 10.5
45 prurigo nodularis 10.5
46 superior limbic keratoconjunctivitis 10.5 MMP3 MMP1
47 coronary artery aneurysm 10.5 MMP3 MMP1
48 spastic entropion 10.5 MMP3 MMP1
49 helix syndrome 10.4
50 iga glomerulonephritis 10.4

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:

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

MGI Mouse Phenotypes related to Epidermolysis Bullosa Dystrophica:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.7 COL7A1 FBN1 KRT14 KRT5 LAMA3 LAMB3
2 digestive/alimentary MP:0005381 9.5 COL7A1 FERMT1 KRT14 KRT5 LAMA3 LAMB3
3 integument MP:0010771 9.28 COL7A1 FBN1 FERMT1 KRT14 KRT5 LAMA3

Drugs & Therapeutics for Epidermolysis Bullosa Dystrophica

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

(show top 50) (show all 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pregabalin Approved, Investigational Phase 3 148553-50-8 5486971
2 Psychotropic Drugs Phase 3
3 Anticonvulsants Phase 3
4 Hormones Phase 3
5 calcium channel blockers Phase 3
6 Anti-Anxiety Agents Phase 3
7 Calcium, Dietary Phase 3
8 Analgesics Phase 3
9
Calcium Nutraceutical Phase 3 7440-70-2 271
10
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
11
Lenograstim Approved, Investigational Phase 2 135968-09-1
12
Molgramostim Investigational Phase 2 99283-10-0
13
Epigallocatechin gallate Investigational Phase 2 989-51-5 65064
14
Epigallocatechin Experimental, Investigational Phase 2 970-74-1 72277
15
Imidacloprid Vet_approved Phase 1, Phase 2 105827-78-9 86418
16 Mitogens Phase 1, Phase 2
17 Immunologic Factors Phase 2
18 Adjuvants, Immunologic Phase 2
19 Anti-Infective Agents Phase 1, Phase 2
20 Gentamicins Phase 1, Phase 2
21 Anti-Inflammatory Agents Phase 1, Phase 2
22 Anti-Bacterial Agents Phase 1, Phase 2
23 Antibiotics, Antitubercular Phase 1, Phase 2
24 Anesthetics Phase 1, Phase 2
25 Anesthetics, General Phase 1, Phase 2
26
Isotretinoin Approved Phase 1 4759-48-2 5538 5282379
27 Dermatologic Agents Phase 1
28 Diacetylrhein Phase 1
29
Edetic Acid Approved, Vet_approved 60-00-4, 62-33-9 6049
30
Pentetic acid Approved 67-43-6
31
Heparin Approved, Investigational 9005-49-6 772 9812414
32
Lorazepam Approved Early Phase 1 846-49-1 3958
33
Tacrolimus Approved, Investigational Early Phase 1 104987-11-3 445643 439492 6473866
34
alemtuzumab Approved, Investigational Early Phase 1 216503-57-0
35
Petrolatum Approved, Investigational 8009-03-8
36
Vidarabine Approved, Investigational 24356-66-9 32326 21704
37
Fludarabine Approved 21679-14-1, 75607-67-9 30751
38
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
39
Busulfan Approved, Investigational 55-98-1 2478
40 Endothelial Growth Factors
41 Immunoglobulins
42 Antibodies
43 Autoantibodies
44 calcium heparin
45 ON 01910 Early Phase 1
46 Protein Kinase Inhibitors Early Phase 1
47 Antirheumatic Agents
48 Alkylating Agents
49 Immunosuppressive Agents
50 Antiviral Agents

Interventional clinical trials:

(show top 50) (show all 51)
# Name Status NCT ID Phase Drugs
1 A Comparative Study of the Healing of Chronic Skin Ulcers of Recessive Dystrophic Epidermolysis Bullosa : Standard Dressing Versus Amniotic Membrane. Unknown status NCT02286427 Phase 3
2 A Pivotal Phase 3 Study of FCX-007 (Genetically-Modified Autologous Human Dermal Fibroblasts) for Recessive Dystrophic Epidermolysis Bullosa Recruiting NCT04213261 Phase 3
3 A Phase III Double Blinded, Placebo-Controlled, Efficacy and Safety Study of Beremagene Geperpavec (B-VEC, Previously "KB103") for the Treatment of Dystrophic Epidermolysis Bullosa (DEB) Recruiting NCT04491604 Phase 3
4 VIITAL: A Phase 3 Study of EB-101 for the Treatment of Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT04227106 Phase 3
5 A Double-blind, Randomized, Cross-over, Feasibility Trial of Pregabalin for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-associated Neuropathic Pain and Itch Recruiting NCT03928093 Phase 3 Pregabalin
6 A Prospective, Multicenter, Within Subject Controlled Study to Evaluate the Effect of Apligraf in Nonhealing Wounds of Subjects With Junctional or Dystrophic Epidermolysis Bullosa Terminated NCT00587223 Phase 3
7 A Phase 1/2 Clinical Study to Evaluate the Safety of ALLO-ASC-DFU in the Subjects With Dystrophic Epidermolysis Bullosa Unknown status NCT02579369 Phase 1, Phase 2
8 Safety Study and Preliminary Efficacy of Infusion Haploidentical Mesenchymal Stem Cells Derived From Bone Marrow for Treating Recessive Dystrophic Epidermolysis Bullosa Unknown status NCT04153630 Phase 1, Phase 2
9 A Phase I/II Study Evaluating Allogeneic Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis Bullosa Unknown status NCT02323789 Phase 1, Phase 2 Mesenchymal stromal cells
10 A Phase 1/2 Randomized, Saline-Controlled, Single-Blind, Multiple Ascending Dose, Dose-Escalation, Multi-Center Trial of PTR-01 in Adult Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Completed NCT03752905 Phase 1, Phase 2 PTR-01;Normal saline
11 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients Completed NCT02698735 Phase 1, Phase 2 Gentamicin;Placebo
12 Efficacy of Granulocyte Colony Stimulating Factor (GCSF) In Patients With Dystrophic Epidermolysis Bullosa Completed NCT01538862 Phase 2 Granulocyte Colony Stimulating Factor (GCSF)
13 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa Patients With Nonsense Mutations Completed NCT03012191 Phase 1, Phase 2 Gentamicin Sulfate
14 Single Center, Single Group Assignment, Open Label Trial to Assess Safety and Effectiveness of Intravenous Allogeneic Umbilical Cord Blood-derived Mesenchymal Stem Cell in Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT04520022 Phase 1, Phase 2 Human Umbilical Cord Blood-derived Mesenchymal Stem Cells
15 Treatment of Epidermolysis Bullosa Dystrophica by Polyphenon E (Epigallocatechin 3 Gallate) Completed NCT00951964 Phase 2 Polyphenon E before Placebo;placebo before treatment
16 A Phase II, Open Study to Assess Efficacy and Safety of Rigosertib in Patients With Recessive Dystrophic Epidermolysis Bullosa Associated Locally Advanced/Metastatic Squamous Cell Carcinoma Recruiting NCT03786237 Phase 1, Phase 2 Rigosertib Oral Capsules / Rigosertib Intravenous
17 Restoration of Full-Length Type VII Collagen in RDEB Patients With Nonsense Mutations After Intravenous Gentamicin Treatment Recruiting NCT03392909 Phase 1, Phase 2 Gentamicin
18 A Randomized,Single-Blind, Placebo-controlled, Self-matched Pairing, Independent Evaluated Study to Evaluate the Efficacy and Safety of RGN-137 Topical Gel in Subjects With Junctional and Dystrophic Epidermolysis Bullosa (CELEB) Recruiting NCT03578029 Phase 2 RGN-137;Placebo
19 A First in Human, Double-blind, Randomized, Intra-subject Placebo-controlled, Multiple Dose Study of QR-313 Evaluating Safety, Proof of Mechanism, Preliminary Efficacy and Systemic Exposure in Subjects With DDEB or RDEB Due to Mutation(s) in Exon 73 of the COL7A1 Gene Recruiting NCT03605069 Phase 1, Phase 2 QR-313;Placebo
20 A Phase 1/2A Single Center Trial of Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Using the Drug LZRSE-Col7A1 Engineered Autologous Epidermal Sheets (LEAES) Active, not recruiting NCT01263379 Phase 1, Phase 2
21 A Phase I/II Study of FCX-007 (Genetically-Modified Autologous Human Dermal Fibroblasts) for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Active, not recruiting NCT02810951 Phase 1, Phase 2
22 A Phase II Study of Beremagene Geperpavec (KB103), a Non-Integrating, Replication-Incompetent Herpes Simplex Virus 1 (HSV-1) Vector Expressing the Human Collagen VII (COL7) Protein, for the Treatment of Dystrophic Epidermolysis Bullosa (DEB) Active, not recruiting NCT03536143 Phase 2
23 An Interventional, Multicenter, Single Arm, Phase I/IIa Clinical Trial to Investigate the Efficacy and Safety of Allo-APZ2-EB on Epidermolysis Bullosa (EB) Active, not recruiting NCT03529877 Phase 1, Phase 2
24 Prospective, Open-label, Uncontrolled Clinical Trial to Assess the Safety and Efficacy of Autologous Cultured Epidermal Grafts Containing Epidermal Stem Cells Genetically Modified With a Gamma-retroviral (rv) Vector Carrying COL7A1 cDNA for Restoration of Epidermis in Patients With Recessive Dystrophic Epidermolysis Bullosa. Active, not recruiting NCT02984085 Phase 1, Phase 2 Genetically corrected cultured epidermal autograft (ATMP)
25 A Phase 2 Open-Label Study of PTR-01 in Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Active, not recruiting NCT04599881 Phase 2 PTR-01
26 Phase I/II ex Vivo Gene Therapy Clinical Trial for RDEB Using Autologous Skin Equivalent Grafts Genetically Corrected With a COL7A1-encoding SIN Retroviral Vector Enrolling by invitation NCT04186650 Phase 1, Phase 2
27 A Safety Study of the Administration of Mesenchymal Stem Cell Extracellular Vesicles in the Treatment of Dystrophic Epidermolysis Bullosa Wounds Not yet recruiting NCT04173650 Phase 1, Phase 2 AGLE 102
28 An Exploratory, Cross-Over Study of the Safety of HP802-247 Applied to Open Wounds of Subjects With Dystrophic Epidermolysis Bullosa Withdrawn NCT01528306 Phase 2
29 Phase I Study of Lentiviral-mediated COL7A1 Gene-modified Autologous Fibroblasts in Adults With Recessive Dystrophic Epidermolysis Bullosa. Completed NCT02493816 Phase 1 Gene-modified autologous fibroblasts
30 Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00014729 Phase 1 isotretinoin
31 A Multi-Center Study to Evaluate the Pharmacokinetics of Diacerein and Rhein and the Safety of Diacerein After Maximum Use, Topical Administration of CCP-020 (Diacerein 1% Ointment) to Patients With Epidermolysis Bullosa (EB) Completed NCT03472287 Phase 1 Diacerein 1% Ointment
32 A Follow-up Study to Evaluate the Efficacy and Safety for the Patients With ALLO-ASC-DFU Treatment in Phase 1/2 Clinical Trial of ALLO-ASC-EB-101 Unknown status NCT03183934
33 Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT01874769
34 A Pilot Study of Reduced Intensity Conditioning (RIC) and Allogeneic Stem Cell Transplantation (ALLOSCT) In Children With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT00881556 Early Phase 1 Reduced Intensity Transplant conditioning
35 Treatment of Chronic and Non-Chronic Wounds in Patients With Recessive Dystrophic Epidermolysis Bullosa Using Helicoll Collagen Dressings Versus Standard of Care Completed NCT01716169
36 Characteristics of Adult Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00904163
37 A Prospective Short-term Study to Evaluate Methodologies for the Assessment of Disease Extent, Impact, and Wound Evolution in Patients With Dystrophic Epidermolysis Bullosa (DEB) Completed NCT02178969
38 Uses of Irradiated Human Amniotic Membrane in the Treatment of Dystrophic Epidermolysis Bullosa Patients Completed NCT03942250
39 Generation and Evaluation of Hand Therapy Devices for Epidermolysis Bullosa (GLOVE Project): Proof of Concept Study for a Dressing Glove Completed NCT03241628
40 Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa Recruiting NCT01019148
41 A Prospective Study to Evaluate the Natural History of Wounds in Patients With Dystrophic Epidermolysis Bullosa (DEB) Recruiting NCT04214002
42 Gynecological Follow-up of Patients With Dystrophic Epidermolysis Bullosa (EBD) Recruiting NCT04757727
43 A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Epidermolysis Bullosa Recruiting NCT04213703
44 SASS 3: Self-Assembled Skin Substitute (SASS) for the Treatment of Epidermolysis Bullosa Active, not recruiting NCT04171661 Early Phase 1
45 Computational Drug Repurposing for All Epidermolysis Bullosa Simplex (EBS) Cases Active, not recruiting NCT03269474
46 Molecular Signatures of Cutaneous Squamous Cell Carcinoma During Recessive Dystrophic Epidermolysis Bullosa Not yet recruiting NCT04285294
47 A Pilot, Open Study to Assess Efficacy and Safety of Rigosertib in Patients With Recessive Dystrophic Epidermolysis Bullosa Associated Locally Advanced/Metastatic Squamous Cell Carcinoma Not yet recruiting NCT04177498 Early Phase 1 Rigosertib Sodium
48 Allogeneic Hematopoietic Cell Transplantation to Correct the Biochemical Defect and Create Tolerance to Donor Tissue in Subjects With Epidermolysis Bullosa Terminated NCT00478244 busulfan;cyclophosphamide;fludarabine phosphate
49 Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene Transfer Terminated NCT00533572
50 A Prospective, Longitudinal Assessment of Disease Severity in Subjects With Dystrophic Epidermolysis Bullosa (DEB) Withdrawn NCT01768026

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:

40
Eye, Skin, Bone Marrow, Bone, 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 1515)
# Title Authors PMID Year
1
Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa. 54 25 61 6
16484981 2006
2
Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. 54 61 25 6
10504458 1999
3
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa. 6 25 61
21448560 2011
4
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. 61 25 6
16971478 2007
5
Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense. 6 25 61
15816848 2005
6
Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa. 61 6 25
16189623 2005
7
Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa. 25 6 61
12485454 2002
8
Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa. 25 6
25913354 2015
9
Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort. 61 54 6
19681861 2009
10
Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations. 61 54 6
18565177 2008
11
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. 54 61 6
18558993 2008
12
Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants. 61 54 6
17425959 2007
13
High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa. 6 54 61
15888141 2005
14
Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein. 6 54 61
12787275 2003
15
A novel insertion mutation in COL7A1 identified in Hallopeau-Siemens recessive dystrophic epidermolysis bullosa. 6 54 61
12735646 2003
16
A -96C-->T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa. 54 6 61
10980546 2000
17
The molecular basis of dystrophic epidermolysis bullosa in Mexico. 6 54 61
10944088 2000
18
Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype. 61 54 6
10469344 1999
19
Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa. 6 54 61
9804332 1998
20
Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa. 6 61 54
9740253 1998
21
Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic. 61 54 6
9347800 1997
22
Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation. 61 54 6
9326325 1997
23
Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa. 61 6 54
9242516 1997
24
Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa. 61 6 54
9042157 1997
25
Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa. 54 61 6
8755915 1996
26
Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype. 6 54 61
8644730 1996
27
A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa. 54 61 6
8618004 1996
28
Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1). 6 61 54
8900535 1996
29
A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa. 54 61 6
7861014 1995
30
A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa. 61 54 6
7833933 1994
31
First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru. 6 61
29427316 2018
32
Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico. 61 6
29473190 2018
33
Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages. 61 6
27899325 2017
34
Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB. 61 6
26763448 2016
35
Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family. 61 6
26102279 2015
36
Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa. 61 6
25155989 2014
37
Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa. 6 61
24577406 2014
38
Genotype-oropharyngeal phenotype correlation in Mexican patients with dystrophic epidermolysis bullosa. 6 61
24210835 2014
39
Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study. 61 6
24252097 2014
40
Impact of next generation sequencing on diagnostics in a genetic skin disease clinic. 6 61
24279917 2013
41
Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial. 6 61
24032424 2013
42
Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa. 6 61
22209565 2012
43
Novel and recurrent COL7A1 mutation in a Polish population. 61 6
22266148 2012
44
HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa. 6 61
21471992 2011
45
Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. 6 61
20598510 2010
46
The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation. 6 61
20184583 2010
47
Revertant mosaicism in recessive dystrophic epidermolysis bullosa. 6 61
20357813 2010
48
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. 61 6
20108398 2010
49
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. 61 6
20108428 2010
50
Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations. 61 6
19665875 2009

Variations for Epidermolysis Bullosa Dystrophica

ClinVar genetic disease variations for Epidermolysis Bullosa Dystrophica:

6 (show top 50) (show all 412)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL7A1 NM_000094.3(COL7A1):c.5797C>T (p.Arg1933Ter) SNV Pathogenic 345830 rs757415879 GRCh37: 3:48613705-48613705
GRCh38: 3:48576272-48576272
2 COL7A1 NM_000094.4(COL7A1):c.6022C>T SNV Pathogenic 522791 rs1055680335 GRCh37: 3:48612930-48612930
GRCh38: 3:48575497-48575497
3 COL7A1 NM_000094.3(COL7A1):c.4233del (p.Gly1412fs) Deletion Pathogenic 587424 rs1560241522 GRCh37: 3:48621378-48621378
GRCh38: 3:48583945-48583945
4 COL7A1 NM_000094.3(COL7A1):c.5261dup (p.Gly1755fs) Duplication Pathogenic 372338 rs1057517723 GRCh37: 3:48616922-48616923
GRCh38: 3:48579489-48579490
5 COL7A1 NC_000003.12:g.48595347G>A SNV Pathogenic 1012377 GRCh37: 3:48632780-48632780
GRCh38: 3:48595347-48595347
6 COL7A1 NM_000094.4(COL7A1):c.84A>G SNV Pathogenic 590762 rs1559444716 GRCh37: 3:48632509-48632509
GRCh38: 3:48595076-48595076
7 COL7A1 NM_000094.4(COL7A1):c.58_70del (p.Arg20fs) Deletion Pathogenic 1047934 GRCh37: 3:48632523-48632535
GRCh38: 3:48595090-48595102
8 COL7A1 NM_000094.4(COL7A1):c.5440C>T (p.Arg1814Cys) SNV Pathogenic 1047935 GRCh37: 3:48615933-48615933
GRCh38: 3:48578500-48578500
9 COL7A1 NM_000094.4(COL7A1):c.5449C>T (p.Gln1817Ter) SNV Pathogenic 1047936 GRCh37: 3:48615924-48615924
GRCh38: 3:48578491-48578491
10 COL7A1 NM_000094.4(COL7A1):c.5499C>T SNV Pathogenic 372340 rs758886532 GRCh37: 3:48615787-48615787
GRCh38: 3:48578354-48578354
11 COL7A1 NM_000094.4(COL7A1):c.5532+1G>T SNV Pathogenic 1047937 GRCh37: 3:48615753-48615753
GRCh38: 3:48578320-48578320
12 COL7A1 NM_000094.4(COL7A1):c.5532+6T>C SNV Pathogenic 1047938 GRCh37: 3:48615748-48615748
GRCh38: 3:48578315-48578315
13 COL7A1 NM_000094.4(COL7A1):c.5569-11_5569-3del Deletion Pathogenic 1047939 GRCh37: 3:48614355-48614363
GRCh38: 3:48576922-48576930
14 COL7A1 NM_000094.4(COL7A1):c.5576_5577del (p.Lys1859fs) Deletion Pathogenic 1047940 GRCh37: 3:48614344-48614345
GRCh38: 3:48576911-48576912
15 COL7A1 NM_000094.4(COL7A1):c.5755G>A (p.Gly1919Arg) SNV Pathogenic 1047941 GRCh37: 3:48613850-48613850
GRCh38: 3:48576417-48576417
16 COL7A1 NM_000094.4(COL7A1):c.5771A>G (p.Gln1924Arg) SNV Pathogenic 1047942 GRCh37: 3:48613834-48613834
GRCh38: 3:48576401-48576401
17 COL7A1 NM_000094.4(COL7A1):c.5892_5905del (p.Asp1964fs) Deletion Pathogenic 1047943 GRCh37: 3:48613133-48613146
GRCh38: 3:48575700-48575713
18 COL7A1 NM_000094.4(COL7A1):c.5932C>T SNV Pathogenic 449469 rs1368134215 GRCh37: 3:48613106-48613106
GRCh38: 3:48575673-48575673
19 COL7A1 NM_000094.4(COL7A1):c.5944_5945delinsTA (p.Gly1982Ter) Indel Pathogenic 1047944 GRCh37: 3:48613093-48613094
GRCh38: 3:48575660-48575661
20 COL7A1 NM_000094.4(COL7A1):c.6034G>A (p.Gly2012Ser) SNV Pathogenic 1047945 GRCh37: 3:48612918-48612918
GRCh38: 3:48575485-48575485
21 COL7A1 NM_000094.4(COL7A1):c.6041_6042del (p.Gln2014fs) Deletion Pathogenic 1047946 GRCh37: 3:48612910-48612911
GRCh38: 3:48575477-48575478
22 COL7A1 NM_000094.4(COL7A1):c.7930-1G>C SNV Pathogenic 1047947 GRCh37: 3:48605197-48605197
GRCh38: 3:48567764-48567764
23 COL7A1 NM_000094.4(COL7A1):c.8103_8104dup (p.Glu2702fs) Duplication Pathogenic 1047948 GRCh37: 3:48604565-48604566
GRCh38: 3:48567132-48567133
24 COL7A1 NM_000094.4(COL7A1):c.8107C>T (p.Arg2703Trp) SNV Pathogenic 1047949 GRCh37: 3:48604563-48604563
GRCh38: 3:48567130-48567130
25 COL7A1 NM_000094.4(COL7A1):c.8165G>T (p.Gly2722Val) SNV Pathogenic 1047950 GRCh37: 3:48604401-48604401
GRCh38: 3:48566968-48566968
26 COL7A1 NM_000094.4(COL7A1):c.8209G>C (p.Gly2737Arg) SNV Pathogenic 1047951 GRCh37: 3:48604357-48604357
GRCh38: 3:48566924-48566924
27 COL7A1 NM_000094.4(COL7A1):c.8304+1G>A SNV Pathogenic 1032188 GRCh37: 3:48604092-48604092
GRCh38: 3:48566659-48566659
28 COL7A1 NM_000094.4(COL7A1):c.8537_8565del (p.Pro2846fs) Deletion Pathogenic 1047952 GRCh37: 3:48602597-48602625
GRCh38: 3:48565164-48565192
29 COL7A1 NM_000094.4(COL7A1):c.8572T>C (p.Tyr2858His) SNV Pathogenic 1047953 GRCh37: 3:48602590-48602590
GRCh38: 3:48565157-48565157
30 COL7A1 NM_000094.4(COL7A1):c.8717del (p.Pro2906fs) Deletion Pathogenic 1047954 GRCh37: 3:48602317-48602317
GRCh38: 3:48564884-48564884
31 COL7A1 NM_000094.4(COL7A1):c.86-8C>A SNV Pathogenic 1047968 GRCh37: 3:48631989-48631989
GRCh38: 3:48594556-48594556
32 COL7A1 NM_000094.4(COL7A1):c.267-3C>G SNV Pathogenic 1047969 GRCh37: 3:48631132-48631132
GRCh38: 3:48593699-48593699
33 COL7A1 NM_000094.4(COL7A1):c.325_326insCG (p.Glu109fs) Insertion Pathogenic 1047970 GRCh37: 3:48631070-48631071
GRCh38: 3:48593637-48593638
34 COL7A1 NM_000094.4(COL7A1):c.336C>G (p.Tyr112Ter) SNV Pathogenic 1047971 GRCh37: 3:48631060-48631060
GRCh38: 3:48593627-48593627
35 COL7A1 NM_000094.4(COL7A1):c.448G>C (p.Gly150Arg) SNV Pathogenic 1047972 GRCh37: 3:48630861-48630861
GRCh38: 3:48593428-48593428
36 COL7A1 NM_000094.4(COL7A1):c.497dupA Duplication Pathogenic 279784 rs766902987 GRCh37: 3:48630811-48630812
GRCh38: 3:48593378-48593379
37 COL7A1 NM_000094.4(COL7A1):c.553C>T SNV Pathogenic 279783 rs886041186 GRCh37: 3:48630664-48630664
GRCh38: 3:48593231-48593231
38 COL7A1 NM_000094.4(COL7A1):c.706C>T SNV Pathogenic 17462 rs121912854 GRCh37: 3:48630348-48630348
GRCh38: 3:48592915-48592915
39 COL7A1 NM_000094.4(COL7A1):c.887delG Deletion Pathogenic 429443 rs1131691385 GRCh37: 3:48630092-48630092
GRCh38: 3:48592659-48592659
40 COL7A1 NM_000094.4(COL7A1):c.1423C>T (p.Gln475Ter) SNV Pathogenic 1047973 GRCh37: 3:48629190-48629190
GRCh38: 3:48591757-48591757
41 COL7A1 NM_000094.4(COL7A1):c.1507G>A (p.Gly503Arg) SNV Pathogenic 1047974 GRCh37: 3:48629106-48629106
GRCh38: 3:48591673-48591673
42 COL7A1 NM_000094.4(COL7A1):c.1573C>T SNV Pathogenic 279785 rs368007918 GRCh37: 3:48628960-48628960
GRCh38: 3:48591527-48591527
43 COL7A1 NM_000094.4(COL7A1):c.1758del (p.Ser587fs) Deletion Pathogenic 1047975 GRCh37: 3:48628128-48628128
GRCh38: 3:48590695-48590695
44 COL7A1 NM_000094.4(COL7A1):c.2044C>T (p.Arg682Ter) SNV Pathogenic 1047976 GRCh37: 3:48627652-48627652
GRCh38: 3:48590219-48590219
45 COL7A1 NM_000094.4(COL7A1):c.2142A>G (p.Gly714=) SNV Pathogenic 1047977 GRCh37: 3:48627060-48627060
GRCh38: 3:48589627-48589627
46 COL7A1 NM_000094.4(COL7A1):c.6044G>T (p.Gly2015Val) SNV Pathogenic 1047978 GRCh37: 3:48612908-48612908
GRCh38: 3:48575475-48575475
47 COL7A1 NM_000094.4(COL7A1):c.6081dup (p.Gly2028fs) Duplication Pathogenic 817592 rs780623622 GRCh37: 3:48612870-48612871
GRCh38: 3:48575437-48575438
48 COL7A1 NM_000094.4(COL7A1):c.6082G>A SNV Pathogenic 379476 rs762162799 GRCh37: 3:48612870-48612870
GRCh38: 3:48575437-48575437
49 COL7A1 NM_000094.4(COL7A1):c.6100G>A SNV Pathogenic 17450 rs121912844 GRCh37: 3:48612852-48612852
GRCh38: 3:48575419-48575419
50 COL7A1 NM_000094.4(COL7A1):c.6119G>A (p.Gly2040Asp) SNV Pathogenic 1047979 GRCh37: 3:48612833-48612833
GRCh38: 3:48575400-48575400

Cosmic variations for Epidermolysis Bullosa Dystrophica:

9 (show top 50) (show all 677)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM152022165 YES1 skin,eye,carcinoma,squamous cell carcinoma c.851G>A p.G284E 18:743289-743289 12
2 COSM136837388 YES1 skin,eye,carcinoma,squamous cell carcinoma c.866G>A p.G289E 18:743289-743289 12
3 COSM89895645 YES1 skin,eye,carcinoma,squamous cell carcinoma c.851G>A p.G284E 18:743289-743289 12
4 COSM150677496 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2050C>T p.R684C 9:132903794-132903794 12
5 COSM85720102 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2065C>T p.R689C 9:132903794-132903794 12
6 COSM149039828 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2062C>T p.R688C 9:132903794-132903794 12
7 COSM150537076 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.1912C>T p.R638C 9:132903794-132903794 12
8 COSM151334154 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2065C>T p.R689C 9:132903794-132903794 12
9 COSM111041127 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2065C>T p.R689C 9:132903794-132903794 12
10 COSM147983627 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2062C>T p.R688C 9:132903794-132903794 12
11 COSM148035069 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2047C>T p.R683C 9:132903794-132903794 12
12 COSM151875202 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2065C>T p.R689C 9:132903794-132903794 12
13 COSM133087519 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.1912C>T p.R638C 9:132903794-132903794 12
14 COSM90145852 TRAF7 skin,eye,carcinoma,squamous cell carcinoma c.349G>A p.E117K 16:2171264-2171264 12
15 COSM106059757 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 12
16 COSM112354551 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>A p.A189T 17:7674966-7674966 12
17 COSM111759858 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 12
18 COSM145161899 TP53 skin,hand,carcinoma,squamous cell carcinoma c.833A>G p.Q278R 17:7673578-7673578 12
19 COSM144020497 TP53 skin,eye,carcinoma,squamous cell carcinoma c.806G>C p.R269T 17:7673781-7673781 12
20 COSM112254266 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 12
21 COSM144313019 TP53 skin,eye,carcinoma,squamous cell carcinoma c.470G>T p.R157L 17:7674944-7674944 12
22 COSM145019215 TP53 skin,hand,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 12
23 COSM122740947 TP53 skin,eye,carcinoma,squamous cell carcinoma c.443G>C p.R148T 17:7673781-7673781 12
24 COSM144309924 TP53 skin,hand,carcinoma,squamous cell carcinoma c.701G>A p.R234H 17:7673802-7673802 12
25 COSM122737048 TP53 skin,eye,carcinoma,squamous cell carcinoma c.191G>T p.R64L 17:7674944-7674944 12
26 COSM142567276 TP53 skin,eye,carcinoma,squamous cell carcinoma c.722G>C p.R241T 17:7673781-7673781 12
27 COSM144087977 TP53 skin,hand,carcinoma,squamous cell carcinoma c.379G>A p.E127K 17:7673764-7673764 12
28 COSM93190386 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 12
29 COSM106059965 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 12
30 COSM105621918 TP53 skin,hand,carcinoma,squamous cell carcinoma c.782+417G>A p.? 17:7673764-7673764 12
31 COSM143386984 TP53 skin,hand,carcinoma,squamous cell carcinoma c.193C>T p.Q65* 17:7676059-7676059 12
32 COSM122787283 TP53 skin,hand,carcinoma,squamous cell carcinoma c.449G>C p.R150P 17:7673775-7673775 12
33 COSM144213765 TP53 skin,hand,carcinoma,squamous cell carcinoma c.473A>G p.Q158R 17:7673578-7673578 12
34 COSM111765517 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 12
35 COSM144659474 TP53 skin,eye,carcinoma,squamous cell carcinoma c.722G>C p.R241T 17:7673781-7673781 12
36 COSM142560894 TP53 skin,hand,carcinoma,squamous cell carcinoma c.556-1G>A p.? 17:7674291-7674291 12
37 COSM105623550 TP53 skin,eye,carcinoma,squamous cell carcinoma c.587G>T p.R196L 17:7674944-7674944 12
38 COSM87899076 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 12
39 COSM145018355 TP53 skin,hand,carcinoma,squamous cell carcinoma c.556-1G>A p.? 17:7674291-7674291 12
40 COSM143465962 TP53 skin,hand,carcinoma,squamous cell carcinoma c.448G>A p.A150T 17:7674966-7674966 12
41 COSM144651848 TP53 skin,hand,carcinoma,squamous cell carcinoma c.556-1G>A p.? 17:7674291-7674291 12
42 COSM105636071 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 12
43 COSM142873584 TP53 skin,eye,carcinoma,squamous cell carcinoma c.859G>C p.E287Q 17:7673761-7673761 12
44 COSM142562947 TP53 skin,eye,carcinoma,squamous cell carcinoma c.470G>T p.R157L 17:7674944-7674944 12
45 COSM144311386 TP53 skin,hand,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 12
46 COSM106053786 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 12
47 COSM144757328 TP53 skin,hand,carcinoma,squamous cell carcinoma c.448G>A p.A150T 17:7674966-7674966 12
48 COSM143945161 TP53 skin,hand,carcinoma,squamous cell carcinoma c.379G>A p.E127K 17:7673764-7673764 12
49 COSM87899887 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 12
50 COSM121884502 TP53 skin,hand,carcinoma,squamous cell carcinoma c.251T>A p.V84E 17:7674884-7674884 12

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:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 MMP3 MMP10 MMP1 LAMB3 LAMA3 FBN1
2
Show member pathways
12.42 PLEC LAMB3 LAMA3 DST COL17A1
3
Show member pathways
12.34 PLOD3 PLEC MMP3 MIR711 LAMB3 LAMA3
4
Show member pathways
12.23 KRT5 KRT14 IVL FLG
5
Show member pathways
12.05 PLOD3 PLEC MMP3 MMP10 MMP1 MIR711
6 11.78 PLEC MMP3 FERMT1
7
Show member pathways
11.67 MMP3 MMP10 MMP1
8
Show member pathways
11.59 PLEC KRT5 KRT14 DST
9 11.52 MMP1 KRT5 KRT14
10 11.34 MMP3 MMP10 MMP1 LAMB3 LAMA3
11 11.03 MMP1 LAMA3 IVL
12 10.76 LAMB3 LAMA3 FBN1 COL7A1 COL17A1

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 10.07 PLOD3 MMP3 MMP10 MMP1 LAMB3 LAMA3
2 extracellular matrix GO:0031012 9.72 MMP3 MMP10 MMP1 FBN1 COL17A1
3 endoplasmic reticulum lumen GO:0005788 9.71 PLOD3 FBN1 COL7A1 COL17A1
4 intermediate filament GO:0005882 9.65 PLEC KRT5 KRT14 FLG DST
5 collagen-containing extracellular matrix GO:0062023 9.56 PLOD3 LAMB3 LAMA3 FREM3 FLG FBN1
6 hemidesmosome GO:0030056 9.33 PLEC DST COL17A1
7 basement membrane GO:0005604 9.17 LAMB3 LAMA3 FREM3 FBN1 DST COL7A1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.88 LAMB3 LAMA3 FREM3 FERMT1 DST COL7A1
2 integrin-mediated signaling pathway GO:0007229 9.67 LAMA3 FERMT1 DST
3 epidermis development GO:0008544 9.63 LAMB3 LAMA3 KRT5 KRT14 COL7A1 COL17A1
4 cornification GO:0070268 9.62 KRT5 KRT14 IVL FLG
5 extracellular matrix disassembly GO:0022617 9.61 MMP3 MMP10 MMP1
6 extracellular matrix organization GO:0030198 9.56 MMP3 MMP10 MMP1 LAMB3 LAMA3 FBN1
7 collagen catabolic process GO:0030574 9.54 MMP3 MMP10 MMP1
8 cellular response to UV-A GO:0071492 9.48 MMP3 MMP1
9 basement membrane assembly GO:0070831 9.46 PLOD3 LAMB3
10 endodermal cell differentiation GO:0035987 9.43 LAMB3 LAMA3 COL7A1
11 hemidesmosome assembly GO:0031581 9.17 PLEC LAMB3 LAMA3 KRT5 KRT14 DST

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

# Name GO ID Score Top Affiliating Genes
1 metalloendopeptidase activity GO:0004222 9.5 MMP3 MMP10 MMP1
2 integrin binding GO:0005178 9.46 LAMA3 FERMT1 FBN1 DST
3 structural constituent of cytoskeleton GO:0005200 9.43 PLEC KRT5 KRT14
4 extracellular matrix structural constituent GO:0005201 9.26 LAMB3 LAMA3 FBN1 COL17A1
5 structural molecule activity GO:0005198 9.1 PLEC LAMB3 LAMA3 KRT14 FLG DST

Sources for Epidermolysis Bullosa Dystrophica

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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