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 24 52 25 58 43 15 37 17 71 32
Dystrophic Epidermolysis Bullosa 12 74 24 52 25 58 29 6
Deb 24 52 25 58
Dermolytic Epidermolysis Bullosa 52 58
Epidermolysis Bullosa, Dermolytic 52
Epidermolysis Bullosa, Dystrophic 25
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:

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 penetrance therefore appears to be less than 100%, at least in ddeb [almaani et al 2011; authors, unpublished observations].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

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Epidermolysis Bullosa Dystrophica

Genetics Home Reference : 25 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 Phospholipase-C Pathway. The drugs Pregabalin and Hormones have been mentioned in the context of this disorder. Affiliated tissues include Dermis, and related phenotypes are abnormal blistering 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.

NIH Rare Diseases : 52 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 : 74 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 233)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa dystrophica, autosomal recessive 35.5 MMP1 COL7A1
2 transient bullous dermolysis of the newborn 33.9 NAT9 NAA15 DR1 COL7A1
3 epidermolysis bullosa pruriginosa 33.5 MMP1 FLG COL7A1
4 nail disorder, nonsyndromic congenital, 8 33.3 LAMB3 COL7A1
5 recessive dystrophic epidermolysis bullosa 32.6 PLOD3 MMP1 FLG DR1 COL7A1
6 pyloric atresia 30.8 PLEC COL17A1
7 skin atrophy 30.8 MMP1 FLG FERMT1
8 lichen planus 30.7 FLG DST COL17A1
9 epidermolysis bullosa 30.4 PLEC MMP1 LAMB3 LAMA3 KRT14 FLG
10 marfan syndrome 30.4 MMP3 MMP1 FBN1
11 epidermolysis bullosa simplex, generalized 30.4 PLEC KRT14 COL17A1
12 epidermolytic hyperkeratosis 30.4 NAT9 KRT14 FLG
13 epidermolysis bullosa acquisita 30.2 LAMA3 DST DR1 COL7A1 COL17A1
14 epidermolysis bullosa simplex 30.2 PLEC KRT14 FLG DST COL7A1 COL17A1
15 basal cell carcinoma 30.1 MMP3 MMP1 KRT14 DST COL17A1
16 bullous skin disease 30.0 PLEC LAMA3 DST COL17A1
17 kindler syndrome 29.7 PLEC NAT9 LAMB3 FERMT1 DST COL7A1
18 epidermolysis bullosa simplex with muscular dystrophy 29.7 PLEC NAT9 LAMA3 DST COL17A1
19 bullous pemphigoid 29.4 PLEC LAMB3 LAMA3 KRT14 DST COL17A1
20 skin disease 29.2 PLEC MMP1 LAMB3 LAMA3 KRT14 FLG
21 junctional epidermolysis bullosa 28.5 PLEC NAT9 LAMB3 LAMA4 LAMA3 KRT14
22 epidermolysis bullosa, junctional, non-herlitz type 28.1 PLEC NAT9 LAMB3 LAMA4 LAMA3 KRT14
23 epidermolysis bullosa dystrophica, autosomal dominant 13.2
24 epidermolysis bullosa dystrophica, pretibial 13.0
25 epidermolysis bullosa dystrophica neurotrophica 12.6
26 epidermolysis bullosa with congenital localized absence of skin and deformity of nails 12.5
27 nonsyndromic congenital nail disorder 11.5
28 inherited epidermolysis bullosa 11.1
29 erythrokeratoderma ''en cocardes'' 10.9
30 chronic ulcer of skin 10.7
31 squamous cell carcinoma 10.7
32 rare genetic skin disease 10.6
33 dysphagia 10.6
34 skin carcinoma 10.6
35 recessive dystrophic epidermolysis bullosa-generalized other 10.6
36 dominant dystrophic epidermolysis bullosa, nails only 10.6
37 acral dystrophic epidermolysis bullosa 10.6
38 centripetalis recessive dystrophic epidermolysis bullosa 10.6
39 verruciform xanthoma of skin 10.6
40 prurigo nodularis 10.6
41 helix syndrome 10.5
42 keratosis 10.5
43 iga glomerulonephritis 10.5
44 superior limbic keratoconjunctivitis 10.5 MMP3 MMP1
45 dermatitis 10.5
46 scabies 10.5
47 alopecia 10.5
48 tendinopathy 10.5 MMP3 MMP1
49 spastic entropion 10.4 MMP3 MMP1
50 chromosome 2q35 duplication syndrome 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:

58 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
2 cheilitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100825
3 aplasia/hypoplasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008065
4 dystrophic toenail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001810
5 dystrophic fingernails 58 31 hallmark (90%) Very frequent (99-80%) HP:0008391
6 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
7 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
8 hypopigmented skin patches 58 31 frequent (33%) Frequent (79-30%) HP:0001053
9 gangrene 58 31 frequent (33%) Frequent (79-30%) HP:0100758
10 abnormality of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0000682
11 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
12 flexion contracture of toe 58 31 frequent (33%) Frequent (79-30%) HP:0005830
13 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
14 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001770
15 furrowed tongue 58 31 frequent (33%) Frequent (79-30%) HP:0000221
16 milia 58 31 frequent (33%) Frequent (79-30%) HP:0001056
17 laryngeal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0001602
18 recurrent skin infections 58 31 frequent (33%) Frequent (79-30%) HP:0001581
19 esophageal stricture 58 31 frequent (33%) Frequent (79-30%) HP:0002043
20 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
21 chronic otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000389
22 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
23 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
24 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
25 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
26 abnormality of the anus 58 31 occasional (7.5%) Occasional (29-5%) HP:0004378
27 dilated cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001644
28 nephrotic syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0000100
29 glomerulopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100820
30 stroke 58 31 occasional (7.5%) Occasional (29-5%) HP:0001297
31 blepharitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000498
32 eczema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000964
33 nasolacrimal duct obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0000579
34 corneal erosion 58 31 occasional (7.5%) Occasional (29-5%) HP:0200020
35 ectropion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000656
36 immunologic hypersensitivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0100326
37 interstitial pulmonary abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0006530
38 ureteral stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000071
39 urinary retention 58 31 occasional (7.5%) Occasional (29-5%) HP:0000016
40 squamous cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002860
41 phimosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001741
42 scarring 58 31 occasional (7.5%) Occasional (29-5%) HP:0100699
43 acute constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0012451
44 abnormality of the dentition 58 Frequent (79-30%)
45 abnormality of the nail 58 Very frequent (99-80%)
46 neoplasm 58 Frequent (79-30%)
47 constipation 58 Frequent (79-30%)
48 abnormality of the foot 58 Frequent (79-30%)
49 nail dystrophy 58 Very frequent (99-80%)
50 abnormality of the hand 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Epidermolysis Bullosa Dystrophica:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.28 COL7A1 FBN1 FERMT1 KRT14 LAMA3 LAMA4

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 Hormones Phase 3
3 Anti-Anxiety Agents Phase 3
4 Psychotropic Drugs Phase 3
5 Anticonvulsants Phase 3
6 Analgesics Phase 3
7 Calcium, Dietary Phase 3
8 calcium channel blockers Phase 3
9
Calcium Nutraceutical Phase 3 7440-70-2 271
10
Sargramostim Approved, Investigational Phase 2 83869-56-1, 123774-72-1
11
Lenograstim Approved, Investigational Phase 2 135968-09-1
12
Epigallocatechin Experimental, Investigational Phase 2 970-74-1 72277
13
Epigallocatechin gallate Investigational Phase 2 989-51-5 65064
14 Molgramostim Investigational Phase 2 99283-10-0
15
Imidacloprid Vet_approved Phase 1, Phase 2 105827-78-9 86418
16 Mitogens Phase 1, Phase 2
17 Anesthetics Phase 1, Phase 2
18 Anesthetics, General Phase 1, Phase 2
19 Immunologic Factors Phase 2
20 Adjuvants, Immunologic Phase 2
21 Antibiotics, Antitubercular Phase 1, Phase 2
22 Anti-Infective Agents Phase 1, Phase 2
23 Anti-Bacterial Agents Phase 1, Phase 2
24 Gentamicins Phase 1, Phase 2
25 Protein Kinase Inhibitors Phase 1, Phase 2
26 ON 01910 Phase 1, Phase 2
27
Isotretinoin Approved Phase 1 4759-48-2 5282379 5538
28 Anti-Inflammatory Agents Phase 1
29 Diacetylrhein Phase 1
30 Dermatologic Agents Phase 1
31
Heparin Approved, Investigational 9005-49-6 46507594 772
32
Edetic Acid Approved, Vet_approved 60-00-4, 62-33-9 6049
33
Pentetic acid Approved 67-43-6
34
Lorazepam Approved Early Phase 1 846-49-1 3958
35
Tacrolimus Approved, Investigational Early Phase 1 104987-11-3 445643 439492 6473866
36
alemtuzumab Approved, Investigational Early Phase 1 216503-57-0
37
Petrolatum Approved, Investigational 8009-03-8
38
Fludarabine Approved 21679-14-1, 75607-67-9 30751
39
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
40
Vidarabine Approved, Investigational 24356-66-9 21704 32326
41
Busulfan Approved, Investigational 55-98-1 2478
42 Endothelial Growth Factors
43 Immunoglobulins
44 Antibodies
45 Autoantibodies
46 calcium heparin
47 Immunosuppressive Agents
48 Alkylating Agents
49 Antiviral Agents
50 Antirheumatic Agents

Interventional clinical trials:

(show all 47)
# 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 VIITAL: A Phase 3 Study of EB-101 for the Treatment of Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT04227106 Phase 3
4 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
5 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
6 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
7 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
8 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. Unknown status NCT02984085 Phase 1, Phase 2 Genetically corrected cultured epidermal autograft (ATMP)
9 Treatment of Epidermolysis Bullosa Dystrophica by Polyphenon E (Epigallocatechin 3 Gallate) Completed NCT00951964 Phase 2 Polyphenon E before Placebo;placebo before treatment
10 Efficacy of Granulocyte Colony Stimulating Factor (GCSF) In Patients With Dystrophic Epidermolysis Bullosa Completed NCT01538862 Phase 2 Granulocyte Colony Stimulating Factor (GCSF)
11 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients Completed NCT02698735 Phase 1, Phase 2 Gentamicin;Placebo
12 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa Patients With Nonsense Mutations Completed NCT03012191 Phase 1, Phase 2 Gentamicin Sulfate
13 An Interventional, Multicenter, Single Arm, Phase I/IIa Clinical Trial to Investigate the Efficacy and Safety of Allo-APZ2-EB on Epidermolysis Bullosa (EB) Recruiting NCT03529877 Phase 1, Phase 2
14 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
15 Restoration of Full-Length Type VII Collagen in RDEB Patients With Nonsense Mutations After Intravenous Gentamicin Treatment Recruiting NCT03392909 Phase 1, Phase 2 Gentamicin
16 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
17 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 Oral Liquid Solution / Rigosertib Intravenous
18 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) Recruiting NCT03752905 Phase 1, Phase 2 PTR-01;Normal saline
19 Safety Study and Preliminary Efficacy of Infusion Haploidentical Mesenchymal Stem Cells Derived From Bone Marrow for Treating Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT04153630 Phase 1, Phase 2
20 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
21 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
22 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
23 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
24 A Safety Study of the Administration of MSC Extracellular Vesicles in the Treatment of Dystrophic Epidermolysis Bullosa Wounds Not yet recruiting NCT04173650 Phase 1, Phase 2 AGLE 102
25 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
26 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
27 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
28 Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00014729 Phase 1 isotretinoin
29 Autologous Transplantation of Cultured Fibroblast on Amniotic Membrane for Mitten Hand Deformity in Patients With Epidermolysis Bullosa Completed NCT01908088 Phase 1
30 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
31 Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT01874769
32 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
33 Characteristics of Adult Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00904163
34 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
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 Uses of Irradiated Human Amniotic Membrane in the Treatment of Dystrophic Epidermolysis Bullosa Patients Completed NCT03942250
37 Generation and Evaluation of Hand Therapy Devices for Epidermolysis Bullosa (GLOVE Project): Proof of Concept Study for a Dressing Glove Completed NCT03241628
38 Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa Recruiting NCT01019148
39 A Prospective Study to Evaluate the Natural History of Wounds in Patients With Dystrophic Epidermolysis Bullosa (DEB) Recruiting NCT04214002
40 A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Epidermolysis Bullosa Recruiting NCT04213703
41 SASS 3: Self-Assembled Skin Substitute (SASS) for the Treatment of Epidermolysis Bullosa Active, not recruiting NCT04171661 Early Phase 1
42 Molecular Signatures of Cutaneous Squamous Cell Carcinoma During Recessive Dystrophic Epidermolysis Bullosa Not yet recruiting NCT04285294
43 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
44 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
45 Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene Transfer Terminated NCT00533572
46 A Prospective, Longitudinal Assessment of Disease Severity in Subjects With Dystrophic Epidermolysis Bullosa (DEB) Withdrawn NCT01768026
47 Bicentric, Open and Pilot Study Evaluating the Efficiency and the Tolerance of the Photodynamic Therapy in the Treatment of Epidermal Dysplasia for Patients Affected by Hereditary Dystrophic Epidermolysis Bullosa Withdrawn NCT02004600

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
Skin, Eye, Bone, Bone Marrow, Testes, Tongue, Heart
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 Dorsal Dermis Dermal Fibroblasts
2 Dermis Cranial Dermis Dermal Fibroblasts
3 Dermis Ventral Dermis Dermal Fibroblasts

Publications for Epidermolysis Bullosa Dystrophica

Articles related to Epidermolysis Bullosa Dystrophica:

(show top 50) (show all 1444)
# Title Authors PMID Year
1
Dystrophic Epidermolysis Bullosa 6 61
20301481 2006
2
Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa. 61 54 24
16484981 2006
3
The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa. 24 61 54
15113589 2004
4
Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations. 61 54 24
14727126 2004
5
Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa. 61 54 24
11843659 2002
6
Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa. 54 61 24
11142768 2000
7
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. 24 54 61
10504458 1999
8
Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations. 54 24 61
10469327 1999
9
Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. Japanese Collaborative Study Group on Epidermolysis Bullosa. 54 24 61
10383751 1999
10
Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. 54 61 24
10383749 1999
11
Recurrent molecular abnormalities in type VII collagen in Southern Italian patients with recessive dystrophic epidermolysis bullosa. 54 24 61
10354186 1999
12
A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa. 54 61 24
10206718 1999
13
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa. 61 24
29334134 2018
14
Inpatient management of children with recessive dystrophic epidermolysis bullosa: A review. 24 61
28944966 2017
15
Safety and Wound Outcomes Following Genetically Corrected Autologous Epidermal Grafts in Patients With Recessive Dystrophic Epidermolysis Bullosa. 24 61
27802546 2016
16
Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn. 24 61
26864810 2016
17
Gene-Corrected Fibroblast Therapy for Recessive Dystrophic Epidermolysis Bullosa using a Self-Inactivating COL7A1 Retroviral Vector. 61 24
26994967 2016
18
Ventricular dysfunction and aortic dilation in patients with recessive dystrophic epidermolysis bullosa. 61 24
26370777 2016
19
Long-term outcomes in adults with recessive dystrophic epidermolysis bullosa fed by a gastrostomy tube in situ. 61 24
26340599 2016
20
Role of dystrophic epidermolysis bullosa in anxiety, depression and self-esteem: A controlled cross-sectional study. 61 24
26183725 2016
21
Recessive bullous dermolysis of the newborn in preterm siblings with a missense mutation in type VII collagen. 61 24
25639640 2015
22
Pain care for patients with epidermolysis bullosa: best care practice guidelines. 61 24
25603875 2014
23
Intravenously injected recombinant human type VII collagen homes to skin wounds and restores skin integrity of dystrophic epidermolysis bullosa. 61 24
23321924 2013
24
Autosomal dominant bullous dermolysis of the newborn associated with a heterozygous missense mutation p.G1673R in type VII collagen. 24 61
22070715 2011
25
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa. 61 24
21448560 2011
26
Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006. 61 24
19026465 2009
27
Non-endoscopic percutaneous gastrostomy placement in children with recessive dystrophic epidermolysis bullosa. 24 61
18094979 2008
28
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. 24 61
16971478 2007
29
Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities. 61 24
16710310 2006
30
Esophageal strictures in children with recessive dystrophic epidermolysis bullosa: an 11-year experience with fluoroscopically guided balloon dilatation. 61 24
16410108 2006
31
Transient bullous dermolysis of the newborn in three generations. 24 61
16225626 2005
32
Ocular surface findings in Hallopeau-Siemens subtype of dystrophic epidermolysis bullosa: report of a case and literature review. 24 61
15829808 2005
33
Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense. 24 61
15816848 2005
34
Type VII collagen is required for Ras-driven human epidermal tumorigenesis. 24 61
15774758 2005
35
Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa. 24 61
16189623 2005
36
Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa. 61 24
14616374 2003
37
Isolated nail dystrophy suggestive of dominant dystrophic epidermolysis bullosa. 61 24
14521572 2003
38
Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa. 24 61
12485454 2002
39
A 13-year-old girl with recessive dystrophic epidermolysis bullosa presenting with squamous cell carcinoma. 61 24
12383103 2002
40
Different phenotypes in recessive dystrophic epidermolysis bullosa patients sharing the same mutation in compound heterozygosity with two novel mutations in the type VII collagen gene. 61 24
12207583 2002
41
Endoscopic dilatation of esophageal strictures in recessive dystrophic epidermolysis bullosa: new equipment, new techniques. 61 24
12050577 2002
42
Management of esophageal strictures in children with recessive dystrophic epidermolysis bullosa. 61 24
12050581 2002
43
Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa. 24 61
11710955 2001
44
Dental disease and caries related microflora in children with dystrophic epidermolysis bullosa. 61 24
11699172 2001
45
Dominant dystrophic epidermolysis bullosa presenting as familial nail dystrophy. 24 61
11260188 2001
46
The hand in recessive dystrophic epidermolysis bullosa. 61 24
11117053 2000
47
"Sporadic" dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation? 61 24
10980463 2000
48
Surgical management of hand contractures and pseudosyndactyly in dystrophic epidermolysis bullosa. 61 24
10560876 1999
49
Hereditary skin diseases of anchoring fibrils. 24 61
10379704 1999
50
Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation? 24 61
10232406 1999

Variations for Epidermolysis Bullosa Dystrophica

ClinVar genetic disease variations for Epidermolysis Bullosa Dystrophica:

6 (show top 50) (show all 255) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL7A1 NM_000094.3(COL7A1):c.6022C>T (p.Arg2008Cys)SNV Pathogenic 522791 rs1055680335 3:48612930-48612930 3:48575497-48575497
2 COL7A1 NM_000094.3(COL7A1):c.4233del (p.Gly1412fs)deletion Pathogenic 587424 rs1560241522 3:48621378-48621378 3:48583945-48583945
3 COL7A1 NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg)SNV Pathogenic 29636 rs121912856 3:48630971-48630971 3:48593538-48593538
4 COL7A1 NM_000094.3(COL7A1):c.5797C>T (p.Arg1933Ter)SNV Pathogenic 345830 rs757415879 3:48613705-48613705 3:48576272-48576272
5 COL7A1 NM_000094.3(COL7A1):c.1732C>T (p.Arg578Ter)SNV Pathogenic 372330 rs144023803 3:48628154-48628154 3:48590721-48590721
6 COL7A1 NM_000094.3(COL7A1):c.5261dup (p.Gly1755fs)duplication Pathogenic 372338 rs1057517723 3:48616922-48616923 3:48579489-48579490
7 COL7A1 NM_000094.3(COL7A1):c.1637-1G>ASNV Pathogenic/Likely pathogenic 345869 rs886058642 3:48628250-48628250 3:48590817-48590817
8 COL7A1 NM_000094.4(COL7A1):c.7557+1G>TSNV Likely pathogenic 189226 rs786204774 3:48607157-48607157 3:48569724-48569724
9 COL7A1 NM_000094.4(COL7A1):c.2993-2A>GSNV Likely pathogenic 505312 rs1553612928 3:48624771-48624771 3:48587338-48587338
10 COL7A1 NM_000094.3(COL7A1):c.5314C>T (p.Arg1772Trp)SNV Likely pathogenic 631924 rs1032335328 3:48616704-48616704 3:48579271-48579271
11 COL7A1 NM_000094.3(COL7A1):c.5820G>A (p.Pro1940=)SNV Conflicting interpretations of pathogenicity 431810 rs200972872 3:48613682-48613682 3:48576249-48576249
12 COL7A1 NM_000094.3(COL7A1):c.5819C>T (p.Pro1940Leu)SNV Conflicting interpretations of pathogenicity 449002 rs149267939 3:48613683-48613683 3:48576250-48576250
13 COL7A1 NM_000094.3(COL7A1):c.1907G>T (p.Gly636Val)SNV Conflicting interpretations of pathogenicity 502658 rs116005007 3:48627789-48627789 3:48590356-48590356
14 COL7A1 NM_000094.3(COL7A1):c.3605G>A (p.Arg1202His)SNV Conflicting interpretations of pathogenicity 713936 3:48623625-48623625 3:48586192-48586192
15 COL7A1 NM_000094.3(COL7A1):c.2367C>T (p.Ser789=)SNV Conflicting interpretations of pathogenicity 721147 3:48626376-48626376 3:48588943-48588943
16 COL7A1 NM_000094.3(COL7A1):c.1411T>C (p.Leu471=)SNV Conflicting interpretations of pathogenicity 719867 3:48629202-48629202 3:48591769-48591769
17 COL7A1 NM_000094.3(COL7A1):c.5769G>A (p.Glu1923=)SNV Conflicting interpretations of pathogenicity 727212 3:48613836-48613836 3:48576403-48576403
18 COL7A1 NM_000094.3(COL7A1):c.5058C>T (p.Ser1686=)SNV Conflicting interpretations of pathogenicity 734455 3:48617772-48617772 3:48580339-48580339
19 COL7A1 NM_000094.3(COL7A1):c.2544C>T (p.Val848=)SNV Conflicting interpretations of pathogenicity 725310 3:48626118-48626118 3:48588685-48588685
20 COL7A1 NM_000094.3(COL7A1):c.2106C>T (p.Val702=)SNV Conflicting interpretations of pathogenicity 734069 3:48627096-48627096 3:48589663-48589663
21 COL7A1 NM_000094.3(COL7A1):c.8064C>T (p.Asp2688=)SNV Conflicting interpretations of pathogenicity 747748 3:48604606-48604606 3:48567173-48567173
22 COL7A1 NM_000094.3(COL7A1):c.6081C>T (p.Pro2027=)SNV Conflicting interpretations of pathogenicity 739072 3:48612871-48612871 3:48575438-48575438
23 COL7A1 NM_000094.3(COL7A1):c.4560T>A (p.Pro1520=)SNV Conflicting interpretations of pathogenicity 737150 3:48620045-48620045 3:48582612-48582612
24 COL7A1 NM_000094.3(COL7A1):c.2997G>A (p.Val999=)SNV Conflicting interpretations of pathogenicity 738677 3:48624765-48624765 3:48587332-48587332
25 COL7A1 NM_000094.3(COL7A1):c.1098G>A (p.Gly366=)SNV Conflicting interpretations of pathogenicity 736164 3:48629677-48629677 3:48592244-48592244
26 COL7A1 NM_000094.3(COL7A1):c.7191C>T (p.Pro2397=)SNV Conflicting interpretations of pathogenicity 763904 3:48608375-48608375 3:48570942-48570942
27 COL7A1 NM_000094.3(COL7A1):c.5343C>T (p.Ser1781=)SNV Conflicting interpretations of pathogenicity 764273 3:48616675-48616675 3:48579242-48579242
28 COL7A1 NM_000094.3(COL7A1):c.663C>T (p.Gly221=)SNV Conflicting interpretations of pathogenicity 750851 3:48630554-48630554 3:48593121-48593121
29 COL7A1 NM_000094.3(COL7A1):c.7380+8G>ASNV Conflicting interpretations of pathogenicity 752516 3:48607890-48607890 3:48570457-48570457
30 COL7A1 NM_000094.3(COL7A1):c.7758+10G>ASNV Conflicting interpretations of pathogenicity 765232 3:48606207-48606207 3:48568774-48568774
31 COL7A1 NM_000094.3(COL7A1):c.6502-10C>GSNV Conflicting interpretations of pathogenicity 757202 3:48611333-48611333 3:48573900-48573900
32 COL7A1 NM_000094.3(COL7A1):c.1062T>C (p.Thr354=)SNV Conflicting interpretations of pathogenicity 792751 3:48629815-48629815 3:48592382-48592382
33 COL7A1 NM_000094.3(COL7A1):c.4118C>T (p.Ser1373Leu)SNV Conflicting interpretations of pathogenicity 225323 rs140403507 3:48621919-48621919 3:48584486-48584486
34 COL7A1 NM_000094.3(COL7A1):c.2392G>A (p.Gly798Arg)SNV Conflicting interpretations of pathogenicity 225325 rs202237834 3:48626351-48626351 3:48588918-48588918
35 COL7A1 NM_000094.3(COL7A1):c.3942dup (p.Asn1315fs)duplication Conflicting interpretations of pathogenicity 279787 rs747912732 3:48622501-48622502 3:48585068-48585069
36 COL7A1 NM_000094.3(COL7A1):c.8095G>A (p.Glu2699Lys)SNV Conflicting interpretations of pathogenicity 345799 rs200938473 3:48604575-48604575 3:48567142-48567142
37 COL7A1 NM_000094.3(COL7A1):c.8568C>T (p.Ser2856=)SNV Conflicting interpretations of pathogenicity 345791 rs148454724 3:48602594-48602594 3:48565161-48565161
38 COL7A1 NM_000094.3(COL7A1):c.520+9C>TSNV Conflicting interpretations of pathogenicity 345887 rs368959634 3:48630780-48630780 3:48593347-48593347
39 COL7A1 NM_000094.3(COL7A1):c.7353T>C (p.Pro2451=)SNV Conflicting interpretations of pathogenicity 345809 rs139461888 3:48607925-48607925 3:48570492-48570492
40 COL7A1 NM_000094.3(COL7A1):c.59G>C (p.Arg20Pro)SNV Conflicting interpretations of pathogenicity 345892 rs755340663 3:48632534-48632534 3:48595101-48595101
41 COL7A1 NM_000094.3(COL7A1):c.7674C>T (p.Asp2558=)SNV Conflicting interpretations of pathogenicity 345805 rs201140493 3:48606820-48606820 3:48569387-48569387
42 COL7A1 NM_000094.3(COL7A1):c.5217T>A (p.Pro1739=)SNV Conflicting interpretations of pathogenicity 345838 rs147611409 3:48617039-48617039 3:48579606-48579606
43 COL7A1 NM_000094.3(COL7A1):c.5098-5C>TSNV Conflicting interpretations of pathogenicity 345840 rs886058637 3:48617495-48617495 3:48580062-48580062
44 COL7A1 NM_000094.3(COL7A1):c.4782+9A>TSNV Conflicting interpretations of pathogenicity 345844 rs369635501 3:48618997-48618997 3:48581564-48581564
45 COL7A1 NM_000094.3(COL7A1):c.3999T>C (p.Pro1333=)SNV Conflicting interpretations of pathogenicity 345852 rs756134134 3:48622355-48622355 3:48584922-48584922
46 COL7A1 NM_000094.3(COL7A1):c.3233G>A (p.Arg1078His)SNV Conflicting interpretations of pathogenicity 345860 rs748471791 3:48624448-48624448 3:48587015-48587015
47 COL7A1 NM_000094.3(COL7A1):c.543G>A (p.Glu181=)SNV Conflicting interpretations of pathogenicity 345886 rs372458548 3:48630674-48630674 3:48593241-48593241
48 COL7A1 NM_000094.3(COL7A1):c.8504G>A (p.Arg2835His)SNV Conflicting interpretations of pathogenicity 345793 rs139014122 3:48602866-48602866 3:48565433-48565433
49 COL7A1 NM_000094.3(COL7A1):c.1613G>A (p.Arg538His)SNV Conflicting interpretations of pathogenicity 345872 rs138791004 3:48628920-48628920 3:48591487-48591487
50 COL7A1 NM_000094.3(COL7A1):c.630C>T (p.Leu210=)SNV Conflicting interpretations of pathogenicity 345885 rs117857033 3:48630587-48630587 3:48593154-48593154

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 COSM85720102 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2065C>T p.R689C 9:132903794-132903794 12
3 COSM90145852 TRAF7 skin,eye,carcinoma,squamous cell carcinoma c.349G>A p.E117K 16:2171264-2171264 12
4 COSM87899076 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 12
5 COSM87899887 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 12
6 COSM87906137 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 12
7 COSM87915681 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 12
8 COSM87906799 TP53 skin,eye,carcinoma,squamous cell carcinoma c.839G>C p.R280T 17:7673781-7673781 12
9 COSM88075392 TP53 skin,hand,carcinoma,squamous cell carcinoma c.950A>G p.Q317R 17:7673578-7673578 12
10 COSM87897711 TP53 skin,hand,carcinoma,squamous cell carcinoma c.818G>A p.R273H 17:7673802-7673802 12
11 COSM87955907 TP53 skin,hand,carcinoma,squamous cell carcinoma c.845G>C p.R282P 17:7673775-7673775 12
12 COSM87906379 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 12
13 COSM87898836 TP53 skin,hand,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 12
14 COSM87952409 TP53 skin,eye,carcinoma,squamous cell carcinoma c.859G>C p.E287Q 17:7673761-7673761 12
15 COSM88003756 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>C p.A189P 17:7674966-7674966 12
16 COSM88016543 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>A p.A189T 17:7674966-7674966 12
17 COSM88117113 TP53 skin,hand,carcinoma,squamous cell carcinoma c.590T>C p.V197A 17:7674941-7674941 12
18 COSM87901804 TP53 skin,eye,carcinoma,squamous cell carcinoma c.587G>T p.R196L 17:7674944-7674944 12
19 COSM96398090 STK40 skin,eye,carcinoma,squamous cell carcinoma c.1280C>T p.S427F 1:36341798-36341798 12
20 COSM99818572 SPEN skin,eye,carcinoma,squamous cell carcinoma c.9563C>T p.P3188L 1:15935803-15935803 12
21 COSM89675474 SOX2 skin,eye,carcinoma,squamous cell carcinoma c.237G>A p.W79* 3:181712597-181712597 12
22 COSM140185011 RNF43 skin,eye,carcinoma,squamous cell carcinoma c.866C>T p.S289F 17:58360235-58360235 12
23 COSM94496882 RAD52 skin,eye,carcinoma,squamous cell carcinoma c.779G>A p.R260Q 12:916430-916430 12
24 COSM112619412 PPP6C skin,eye,carcinoma,squamous cell carcinoma c.901C>T p.R301C 9:125149801-125149801 12
25 COSM125322720 PIK3R1 skin,eye,carcinoma,squamous cell carcinoma c.608A>G p.Y203C 5:68279707-68279707 12
26 COSM97110376 NRAS skin,hand,carcinoma,squamous cell carcinoma c.395A>G p.E132G 1:114709624-114709624 12
27 COSM88392222 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.6662T>C p.V2221A 1:119916060-119916060 12
28 COSM88392238 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.1340G>A p.G447D 1:119967546-119967546 12
29 COSM88408801 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.1800G>A p.M600I 1:119963689-119963689 12
30 COSM88392232 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.3293G>A p.C1098Y 1:119937901-119937901 12
31 COSM88393300 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.5123C>T p.S1708F 1:119922326-119922326 12
32 COSM88390873 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.863C>T p.P288L 1:119986971-119986971 12
33 COSM88407043 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.3425C>T p.T1142I 1:119937379-119937379 12
34 COSM88409291 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.3100T>C p.C1034R 1:119940638-119940638 12
35 COSM88407049 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.872C>T p.T291I 1:119986962-119986962 12
36 COSM88398931 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.6964C>T p.P2322S 1:119915758-119915758 12
37 COSM88399145 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.2581T>G p.C861G 1:119949025-119949025 12
38 COSM88392225 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.5782-1G>A p.? 1:119918554-119918554 12
39 COSM88409894 NOTCH2 skin,eye,carcinoma,squamous cell carcinoma c.4091C>T p.P1364L 1:119925725-119925725 12
40 COSM88388711 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.337C>T p.R113* 1:120005407-120005407 12
41 COSM88408809 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.1640G>A p.C547Y 1:119965494-119965494 12
42 COSM88392244 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.988T>C p.W330R 1:119969631-119969631 12
43 COSM88406295 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.4966C>T p.Q1656* 1:119922672-119922672 12
44 COSM88404616 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.7078C>A p.Q2360K 1:119915644-119915644 12
45 COSM87648187 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.5057T>C p.V1686A 9:136503292-136503292 12
46 COSM87685993 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.4411G>A p.A1471T 9:136505485-136505485 12
47 COSM87695196 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1631T>C p.L544P 9:136516019-136516019 12
48 COSM87675424 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.6787C>T p.R2263W 9:136496952-136496952 12
49 COSM87695244 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.2536C>T p.Q846* 9:136511203-136511203 12
50 COSM87644755 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1393G>A p.A465T 9:136517800-136517800 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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.05 MMP3 MMP10 MMP1 LAMB3 LAMA4 LAMA3
2
Show member pathways
12.8 LAMB3 LAMA4 LAMA3 FBN1 COL7A1 COL17A1
3
Show member pathways
12.48 PLOD3 PLEC MMP3 LAMB3 LAMA3 DST
4
Show member pathways
12.42 PLEC LAMB3 LAMA3 DST COL17A1
5
Show member pathways
12.05 PLOD3 PLEC MMP3 MMP10 MMP1 LAMB3
6
Show member pathways
11.86 LAMB3 LAMA4 LAMA3 FBN1
7 11.79 PLEC MMP3 FERMT1
8
Show member pathways
11.72 PLEC KRT14 DST
9 11.68 LAMB3 LAMA4 LAMA3
10
Show member pathways
11.65 MMP3 MMP10 MMP1
11 11.6 LAMB3 LAMA4 LAMA3
12 11.22 MMP3 MMP10 MMP1 LAMB3 LAMA4 LAMA3
13 10.7 LAMB3 LAMA4 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 10.06 PLOD3 MMP3 MMP10 MMP1 LAMB3 LAMA4
2 endoplasmic reticulum lumen GO:0005788 9.73 PLOD3 FBN1 COL7A1 COL17A1
3 extracellular matrix GO:0031012 9.73 MMP3 MMP10 MMP1 FBN1 COL7A1 COL17A1
4 intermediate filament GO:0005882 9.71 PLEC KRT14 FLG DST
5 collagen-containing extracellular matrix GO:0062023 9.61 PLOD3 LAMB3 LAMA4 LAMA3 FREM3 FLG
6 laminin-5 complex GO:0005610 9.37 LAMB3 LAMA3
7 hemidesmosome GO:0030056 9.33 PLEC DST COL17A1
8 basement membrane GO:0005604 9.23 LAMB3 LAMA4 LAMA3 FREM3 FBN1 DST

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 9.8 LAMB3 LAMA4 LAMA3 FREM3 FERMT1 DST
2 integrin-mediated signaling pathway GO:0007229 9.63 LAMA3 FERMT1 DST
3 extracellular matrix organization GO:0030198 9.61 MMP3 MMP10 MMP1 LAMB3 LAMA4 LAMA3
4 extracellular matrix disassembly GO:0022617 9.58 MMP3 MMP10 MMP1
5 epidermis development GO:0008544 9.55 LAMB3 LAMA3 KRT14 COL7A1 COL17A1
6 collagen catabolic process GO:0030574 9.54 MMP3 MMP10 MMP1
7 endodermal cell differentiation GO:0035987 9.5 LAMB3 LAMA3 COL7A1
8 intermediate filament cytoskeleton organization GO:0045104 9.49 PLEC DST
9 regulation of embryonic development GO:0045995 9.48 LAMA4 LAMA3
10 basement membrane assembly GO:0070831 9.43 PLOD3 LAMB3
11 hemidesmosome assembly GO:0031581 9.1 PLEC LAMB3 LAMA3 KRT14 DST COL17A1

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.55 LAMB3 LAMA3 FERMT1 FBN1 DST
2 metalloendopeptidase activity GO:0004222 9.43 MMP3 MMP10 MMP1
3 extracellular matrix structural constituent GO:0005201 9.35 LAMB3 LAMA4 LAMA3 FBN1 COL17A1
4 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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