MCID: EPD009
MIFTS: 58

Epidermolysis Bullosa Dystrophica

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

Aliases & Classifications for Epidermolysis Bullosa Dystrophica

MalaCards integrated aliases for Epidermolysis Bullosa Dystrophica:

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

Characteristics:

GeneReviews:

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 penetrance therefore appears to be less than 100%, at least in ddeb [almaani et al 2011; pfendner, unpublished observation]...

Classifications:



Summaries for Epidermolysis Bullosa Dystrophica

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

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

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

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

GeneReviews: NBK1304

Related Diseases for Epidermolysis Bullosa Dystrophica

Diseases in the Epidermolysis Bullosa Dystrophica family:

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

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa dystrophica, autosomal recessive 35.2 COL7A1 MMP1
2 epidermolysis bullosa pruriginosa 32.7 COL7A1 FLG MMP1
3 recessive dystrophic epidermolysis bullosa 32.7 COL7A1 FLG MMP1
4 epidermolysis bullosa acquisita 30.1 COL7A1 DST
5 epidermolysis bullosa dystrophica, autosomal dominant 12.8
6 epidermolysis bullosa dystrophica, pretibial 12.6
7 epidermolysis bullosa dystrophica neurotrophica 12.2
8 transient bullous dermolysis of the newborn 12.0
9 epidermolysis bullosa with congenital localized absence of skin and deformity of nails 12.0
10 dominant dystrophic epidermolysis bullosa 11.3
11 epidermolysis bullosa 11.1
12 superior limbic keratoconjunctivitis 10.6 MMP1 MMP3
13 spastic entropion 10.6 MMP1 MMP3
14 adult astrocytic tumour 10.6 MMP1 MMP3
15 conjunctivochalasis 10.6 MMP1 MMP3
16 esophagitis 10.6
17 adenomyosis 10.6 MMP1 MMP3
18 squamous cell carcinoma 10.6
19 corneal edema 10.5 MMP1 MMP3
20 tendinosis 10.5 MMP1 MMP3
21 bone deterioration disease 10.5 MMP1 MMP3
22 pelvic organ prolapse 10.5 MMP1 MMP3
23 coronary artery aneurysm 10.5 MMP1 MMP3
24 pyoderma 10.5 MMP1 MMP10
25 lymph node disease 10.5 MMP1 MMP3
26 sorsby fundus dystrophy 10.4 FBN1 MMP3
27 recessive dystrophic epidermolysis bullosa-generalized other 10.3
28 dominant dystrophic epidermolysis bullosa, nails only 10.3
29 acral dystrophic epidermolysis bullosa 10.3
30 centripetalis recessive dystrophic epidermolysis bullosa 10.3
31 gingival overgrowth 10.3 MMP1 MMP3
32 aortic aneurysm, familial thoracic 1 10.3 FBN1 MMP1
33 bone structure disease 10.3 FBN1 MMP3
34 aceruloplasminemia 10.2
35 ataxia-oculomotor apraxia 3 10.2
36 exfoliation syndrome 10.2 FBN1 MMP1
37 varicose veins 10.2 MMP1 MMP3
38 mitral valve disease 10.2 FBN1 MMP1
39 keratoconus 10.2 MMP1 MMP10 MMP3
40 osteoporosis 10.1
41 pelger-huet anomaly 10.1
42 osteogenic sarcoma 10.1
43 dilated cardiomyopathy 10.1
44 sclerocornea 10.1
45 cornea plana 10.1
46 sarcoma 10.1
47 pharyngitis 10.1
48 hyperglobulinemic purpura 10.1
49 purpura 10.1
50 laryngitis 10.1

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



Diseases related to Epidermolysis Bullosa Dystrophica

Symptoms & Phenotypes for Epidermolysis Bullosa Dystrophica

Human phenotypes related to Epidermolysis Bullosa Dystrophica:

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

Drugs & Therapeutics for Epidermolysis Bullosa Dystrophica

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

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

Interventional clinical trials:

(show all 31)
# Name Status NCT ID Phase Drugs
1 A Comparative Study of the Healing of Chronic Ulcers of Recessive Epidermolysis Bullosa : Dressing vs Amniotic Membrane Recruiting NCT02286427 Phase 3
2 Safety and Efficacy of Apligraf in Nonhealing Wounds of Subjects With Junctional or Dystrophic Epidermolysis Bullosa (EB) Terminated NCT00587223 Phase 3
3 Treatment of Epidermolysis Bullosa Dystrophica by Polyphenon E (Epigallocatechin 3 Gallate) Completed NCT00951964 Phase 2 Polyphenon E before Placebo;placebo before treatment
4 Efficacy of Granulocyte Colony Stimulating Factor (GCSF) In Patients With Dystrophic Epidermolysis Bullosa Completed NCT01538862 Phase 2 Granulocyte Colony Stimulating Factor (GCSF)
5 Study to Evaluate the Safety of ALLO-ASC-DFU in the Subjects With Dystrophic Epidermolysis Bullosa Recruiting NCT02579369 Phase 1, Phase 2
6 A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT02810951 Phase 1, Phase 2 Sterile Saline
7 Topical KB103 Gene Therapy to Restore Functional Collagen VII for the Treatment of Dystrophic Epidermolysis Bullosa Recruiting NCT03536143 Phase 1, Phase 2
8 Clinical Trial to Assess Safety and Efficacy of Autologous Cultured Epidermal Grafts Containing Epidermal Stem Cells Genetically Modified in Patients With RDEB. Recruiting NCT02984085 Phase 1, Phase 2 Genetically corrected cultured epidermal autograft (ATMP)
9 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa Patients With Nonsense Mutations Recruiting NCT03012191 Phase 1, Phase 2 Gentamicin Sulfate
10 Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT01263379 Phase 1, Phase 2
11 Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT02323789 Phase 1, Phase 2 Mesenchymal stromal cells
12 Evaluation of the Safety and Efficacy Study of RGN-137 Topical Gel for Junctional and Dystrophic Epidermolysis Bullosa Not yet recruiting NCT03578029 Phase 2 RGN-137;Placebo
13 Intravenous Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Not yet recruiting NCT03392909 Phase 1, Phase 2 Gentamicin
14 Allogeneic ABCB5-positive Stem Cells for Treatment of Epidermolysis Bullosa Not yet recruiting NCT03529877 Phase 1, Phase 2
15 A Pilot Study of HP802-247 in Dystrophic Epidermolysis Bullosa Withdrawn NCT01528306 Phase 2
16 Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00014729 Phase 1 isotretinoin
17 Autologous Transplantation of Cultured Fibroblast on Amniotic Membrane in Patients With Epidermolysis Bullosa Completed NCT01908088 Phase 1
18 Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT02493816 Phase 1 Gene-modified autologous fibroblasts
19 Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa Unknown status NCT01019148
20 Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT01874769
21 Allogeneic Stem Cell Transplantation (ALLOSCT) in Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT00881556 Early Phase 1 Reduced Intensity Transplant conditioning
22 Characteristics of Adult Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00904163
23 Treatment of Chronic and Non-Chronic Wounds in Patients With Recessive Dystrophic Epidermolysis Bullosa Using Helicoll Collagen Dressings Versus Standard of Care Completed NCT01716169 Not Applicable
24 Short Term Observational Study in DEB Patients Completed NCT02178969
25 Proof of Concept Study for a Dressing Glove Completed NCT03241628
26 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients Enrolling by invitation NCT02698735 Not Applicable Gentamicin;Placebo
27 A Follow-up Study to Evaluate the Efficacy and Safety of ALLO-ASC-DFU in ALLO-ASC-EB-101 Clinical Trial Not yet recruiting NCT03183934
28 Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene Transfer Terminated NCT00533572
29 Allogeneic Hematopoietic Stem Cell Transplant For Epidermolysis Bullosa Terminated NCT00478244 Not Applicable busulfan;cyclophosphamide;fludarabine phosphate
30 Prospective, Longitudinal Natural History Study in Dystrophic Epidermolysis Bullosa Withdrawn NCT01768026
31 Pilot Study Evaluating the Efficiency and the Tolerance of the PDT in the Treatment of Epidermal Dysplasia for Patients Affected by Hereditary DEB Withdrawn NCT02004600 Not Applicable

Search NIH Clinical Center for Epidermolysis Bullosa Dystrophica

Cell-based therapeutics:


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

Cochrane evidence based reviews: epidermolysis bullosa dystrophica

Genetic Tests for Epidermolysis Bullosa Dystrophica

Genetic tests related to Epidermolysis Bullosa Dystrophica:

# Genetic test Affiliating Genes
1 Dystrophic Epidermolysis Bullosa 29 COL7A1

Anatomical Context for Epidermolysis Bullosa Dystrophica

MalaCards organs/tissues related to Epidermolysis Bullosa Dystrophica:

41
Skin, Tongue, Endothelial, Heart, Trachea, Colon
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 132)
# Title Authors Year
1
Successful forearm prosthesis fitting in a patient with epidermolysis bullosa dystrophica: Case report. ( 28726572 )
2017
2
Feasibility, efficacy, and safety of ultrasound-guided axillary plexus blockade in pediatric patients with epidermolysis bullosa dystrophica. ( 26857539 )
2016
3
A two-step multidisciplinary approach to treat recurrent esophageal strictures in children with epidermolysis bullosa dystrophica. ( 25590175 )
2015
4
Anaesthetic management in a paediatric patient with a difficult airway due to epidermolysis bullosa dystrophica. ( 25497148 )
2015
5
Vascular access for chronic hemodialysis in a patient with epidermolysis bullosa dystrophica Hallopeau-Siemens. ( 22520719 )
2013
6
Oral manifestations and challenges in dental treatment of epidermolysis bullosa dystrophica. ( 24011299 )
2013
7
Oral manifestations of epidermolysis bullosa dystrophica: a rare genetic disease. ( 23349175 )
2013
8
Chronic leg ulcers as a rare cause for the first diagnosis of epidermolysis bullosa dystrophica. ( 22974048 )
2012
9
Severe osteoporosis treated with teriparatide in a patient affected by recessive epidermolysis bullosa dystrophica. ( 20458569 )
2011
10
Airway management in adult patients with epidermolysis bullosa dystrophica: a case series. ( 21831082 )
2011
11
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. ( 20108428 )
2010
12
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. ( 20108398 )
2010
13
Ocular surface reconstruction with cultivated limbal epithelium in a patient with unilateral stem cell deficiency caused by Epidermolysis bullosa dystrophica hallopeau-Siemens. ( 20164760 )
2010
14
Anesthesia for balloon dilatation of esophageal strictures in children with epidermolysis bullosa dystrophica: from intubation to sedation. ( 20543680 )
2010
15
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. ( 20108434 )
2010
16
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. ( 19694005 )
2009
17
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. ( 19694003 )
2009
18
Laryngeal stenosis in epidermolysis bullosa dystrophica. ( 18479854 )
2009
19
Acquired syndactyly in epidermolysis bullosa dystrophica. ( 21691395 )
2009
20
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. ( 19694004 )
2009
21
Clinical management for epidermolysis bullosa dystrophica. ( 19089295 )
2008
22
Large metastasizing squamous cell carcinoma in epidermolysis bullosa dystrophica Hallopeau-Siemens. ( 17373986 )
2007
23
Death from colonic disease in epidermolysis bullosa dystrophica. ( 16480504 )
2006
24
Management of squamous cell carcinoma in a patient with recessive-type epidermolysis bullosa dystrophica. ( 15522026 )
2004
25
Fluoroscopically guided endoluminal balloon dilatation of esophageal stricture due to epidermolysis bullosa dystrophica. ( 12140654 )
2002
26
Anesthetic implications in epidermolysis bullosa dystrophica. ( 11759144 )
2001
27
Spinal anaesthesia in a patient with epidermolysis bullosa dystrophica. ( 10969376 )
2000
28
Epidermolysis bullosa dystrophica of Hallopeau-Siemens and squamous-cell carcinoma: a case report. ( 8864399 )
1996
29
Neonatal retention of type VII collagen, transient bullous dermolysis of the newborn and recessive epidermolysis bullosa dystrophica inversa. ( 8204486 )
1994
30
Chronic recurrent esophageal strictures treated with balloon dilation in children with autosomal recessive epidermolysis bullosa dystrophica. ( 8503396 )
1993
31
Image interpretation session: 1992. Esophageal strictures and squamous cell carcinoma of the maxillary sinus and palate in recessive epidermolysis bullosa dystrophica. ( 8426919 )
1993
32
Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia. ( 1353052 )
1992
33
Cornea plana and sclerocornea in association with recessive epidermolysis bullosa dystrophica. Case report. ( 1559352 )
1992
34
Squamous cell carcinoma developing in epidermolysis bullosa dystrophica. ( 1955228 )
1991
35
Cerebellar ataxia in a family with recurrent epidermolysis bullosa dystrophica. ( 1952992 )
1991
36
Absence of platelet aggregation activity in blister fluids from epidermolysis bullosa dystrophica and epidermolysis bullosa acquisita. ( 2288902 )
1990
37
Epidermolysis bullosa dystrophica inversa in a child. ( 2193305 )
1990
38
Dilated cardiomyopathy complicating a case of epidermolysis bullosa dystrophica. ( 2704658 )
1989
39
Management of oesophageal stenosis in epidermolysis bullosa dystrophica. ( 2751329 )
1989
40
Management of esophageal spasm in epidermolysis bullosa dystrophica using verapamil. ( 2732859 )
1989
41
The spectrum of renal involvement in epidermolysis bullosa dystrophica hereditaria: report of two cases. ( 3369444 )
1988
42
Successful prosthetic fitting of a patient with epidermolysis bullosa dystrophica. Case report. ( 3377888 )
1988
43
Anaesthetic management in patients with epidermolysis bullosa dystrophica. ( 3407874 )
1988
44
Regional anesthesia in children with epidermolysis bullosa dystrophica. ( 3345006 )
1988
45
Dermatology diagnosis. Epidermolysis bullosa dystrophica. ( 3166664 )
1988
46
Osteogenic sarcoma of the tibia in a patient with epidermolysis bullosa dystrophica. ( 3422608 )
1988
47
Autosomal dominant epidermolysis bullosa dystrophica: are the Cockayne-Touraine, the Pasini and the Bart-types different expressions of the same mutant gene? ( 3621647 )
1987
48
Epidermolysis bullosa dystrophica et albopapuloidea (Pasini) ( 3571561 )
1987
49
Collagen biosynthesis in a case of epidermolysis bullosa dystrophica recessiva. ( 2436409 )
1987
50
ATP-induced cell contraction with epidermolysis bullosa dystrophica recessive and normal dermal fibroblasts. ( 3018087 )
1986

Variations for Epidermolysis Bullosa Dystrophica

ClinVar genetic disease variations for Epidermolysis Bullosa Dystrophica:

6
(show top 50) (show all 226)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL7A1 NM_000094.3(COL7A1): c.6696C> A (p.Pro2232=) single nucleotide variant Conflicting interpretations of pathogenicity rs61729223 GRCh38 Chromosome 3, 48573192: 48573192
2 COL7A1 NM_000094.3(COL7A1): c.6696C> A (p.Pro2232=) single nucleotide variant Conflicting interpretations of pathogenicity rs61729223 GRCh37 Chromosome 3, 48610625: 48610625
3 COL7A1 NM_000094.3(COL7A1): c.4483-11T> C single nucleotide variant Uncertain significance rs74390291 GRCh38 Chromosome 3, 48583059: 48583059
4 COL7A1 NM_000094.3(COL7A1): c.4483-11T> C single nucleotide variant Uncertain significance rs74390291 GRCh37 Chromosome 3, 48620492: 48620492
5 COL7A1 NM_000094.3(COL7A1): c.3830C> T (p.Pro1277Leu) single nucleotide variant Likely benign rs35761247 GRCh38 Chromosome 3, 48585691: 48585691
6 COL7A1 NM_000094.3(COL7A1): c.3830C> T (p.Pro1277Leu) single nucleotide variant Likely benign rs35761247 GRCh37 Chromosome 3, 48623124: 48623124
7 COL7A1 NM_000094.3(COL7A1): c.3139+12G> A single nucleotide variant Benign rs2255532 GRCh38 Chromosome 3, 48587178: 48587178
8 COL7A1 NM_000094.3(COL7A1): c.3139+12G> A single nucleotide variant Benign rs2255532 GRCh37 Chromosome 3, 48624611: 48624611
9 COL7A1 NM_000094.3(COL7A1): c.2817A> G (p.Pro939=) single nucleotide variant Benign rs1264194 GRCh38 Chromosome 3, 48587833: 48587833
10 COL7A1 NM_000094.3(COL7A1): c.2817A> G (p.Pro939=) single nucleotide variant Benign rs1264194 GRCh37 Chromosome 3, 48625266: 48625266
11 COL7A1 NM_000094.3(COL7A1): c.1784C> T (p.Pro595Leu) single nucleotide variant Benign rs2228561 GRCh38 Chromosome 3, 48590581: 48590581
12 COL7A1 NM_000094.3(COL7A1): c.1784C> T (p.Pro595Leu) single nucleotide variant Benign rs2228561 GRCh37 Chromosome 3, 48628014: 48628014
13 COL7A1 NM_000094.3(COL7A1): c.*40A> T single nucleotide variant Uncertain significance rs886058627 GRCh38 Chromosome 3, 48564366: 48564366
14 COL7A1 NM_000094.3(COL7A1): c.*40A> T single nucleotide variant Uncertain significance rs886058627 GRCh37 Chromosome 3, 48601799: 48601799
15 COL7A1 NM_000094.3(COL7A1): c.8568C> T (p.Ser2856=) single nucleotide variant Uncertain significance rs148454724 GRCh38 Chromosome 3, 48565161: 48565161
16 COL7A1 NM_000094.3(COL7A1): c.8568C> T (p.Ser2856=) single nucleotide variant Uncertain significance rs148454724 GRCh37 Chromosome 3, 48602594: 48602594
17 COL7A1 NM_000094.3(COL7A1): c.8280A> G (p.Gly2760=) single nucleotide variant Uncertain significance rs374365287 GRCh38 Chromosome 3, 48566684: 48566684
18 COL7A1 NM_000094.3(COL7A1): c.8280A> G (p.Gly2760=) single nucleotide variant Uncertain significance rs374365287 GRCh37 Chromosome 3, 48604117: 48604117
19 COL7A1 NM_000094.3(COL7A1): c.8095G> A (p.Glu2699Lys) single nucleotide variant Uncertain significance rs200938473 GRCh38 Chromosome 3, 48567142: 48567142
20 COL7A1 NM_000094.3(COL7A1): c.8095G> A (p.Glu2699Lys) single nucleotide variant Uncertain significance rs200938473 GRCh37 Chromosome 3, 48604575: 48604575
21 COL7A1 NM_000094.3(COL7A1): c.7273G> T (p.Gly2425Cys) single nucleotide variant Uncertain significance rs886058633 GRCh38 Chromosome 3, 48570710: 48570710
22 COL7A1 NM_000094.3(COL7A1): c.7273G> T (p.Gly2425Cys) single nucleotide variant Uncertain significance rs886058633 GRCh37 Chromosome 3, 48608143: 48608143
23 COL7A1 NM_000094.3(COL7A1): c.7048C> T (p.Pro2350Ser) single nucleotide variant Uncertain significance rs749870307 GRCh38 Chromosome 3, 48572021: 48572021
24 COL7A1 NM_000094.3(COL7A1): c.7048C> T (p.Pro2350Ser) single nucleotide variant Uncertain significance rs749870307 GRCh37 Chromosome 3, 48609454: 48609454
25 COL7A1 NM_000094.3(COL7A1): c.7037G> A (p.Arg2346His) single nucleotide variant Uncertain significance rs201432371 GRCh38 Chromosome 3, 48572032: 48572032
26 COL7A1 NM_000094.3(COL7A1): c.7037G> A (p.Arg2346His) single nucleotide variant Uncertain significance rs201432371 GRCh37 Chromosome 3, 48609465: 48609465
27 COL7A1 NM_000094.3(COL7A1): c.5307+7G> C single nucleotide variant Uncertain significance rs116455408 GRCh38 Chromosome 3, 48579362: 48579362
28 COL7A1 NM_000094.3(COL7A1): c.5307+7G> C single nucleotide variant Uncertain significance rs116455408 GRCh37 Chromosome 3, 48616795: 48616795
29 COL7A1 NM_000094.3(COL7A1): c.5154+5T> C single nucleotide variant Uncertain significance rs2854400 GRCh38 Chromosome 3, 48579780: 48579780
30 COL7A1 NM_000094.3(COL7A1): c.5154+5T> C single nucleotide variant Uncertain significance rs2854400 GRCh37 Chromosome 3, 48617213: 48617213
31 COL7A1 NM_000094.3(COL7A1): c.4944G> A (p.Pro1648=) single nucleotide variant Uncertain significance rs111360822 GRCh38 Chromosome 3, 48580918: 48580918
32 COL7A1 NM_000094.3(COL7A1): c.4944G> A (p.Pro1648=) single nucleotide variant Uncertain significance rs111360822 GRCh37 Chromosome 3, 48618351: 48618351
33 COL7A1 NM_000094.3(COL7A1): c.4927G> A (p.Gly1643Ser) single nucleotide variant Uncertain significance rs886058638 GRCh38 Chromosome 3, 48581130: 48581130
34 COL7A1 NM_000094.3(COL7A1): c.4927G> A (p.Gly1643Ser) single nucleotide variant Uncertain significance rs886058638 GRCh37 Chromosome 3, 48618563: 48618563
35 COL7A1 NM_000094.3(COL7A1): c.4048-15T> A single nucleotide variant Uncertain significance rs367995901 GRCh38 Chromosome 3, 48584571: 48584571
36 COL7A1 NM_000094.3(COL7A1): c.4048-15T> A single nucleotide variant Uncertain significance rs367995901 GRCh37 Chromosome 3, 48622004: 48622004
37 COL7A1 NM_000094.3(COL7A1): c.3975+11C> T single nucleotide variant Likely benign rs7637885 GRCh38 Chromosome 3, 48585025: 48585025
38 COL7A1 NM_000094.3(COL7A1): c.3975+11C> T single nucleotide variant Likely benign rs7637885 GRCh37 Chromosome 3, 48622458: 48622458
39 COL7A1 NM_000094.3(COL7A1): c.3753T> C (p.Cys1251=) single nucleotide variant Uncertain significance rs764349883 GRCh38 Chromosome 3, 48585946: 48585946
40 COL7A1 NM_000094.3(COL7A1): c.3753T> C (p.Cys1251=) single nucleotide variant Uncertain significance rs764349883 GRCh37 Chromosome 3, 48623379: 48623379
41 COL7A1 NM_000094.3(COL7A1): c.3412G> A (p.Val1138Met) single nucleotide variant Uncertain significance rs145048666 GRCh38 Chromosome 3, 48586470: 48586470
42 COL7A1 NM_000094.3(COL7A1): c.3412G> A (p.Val1138Met) single nucleotide variant Uncertain significance rs145048666 GRCh37 Chromosome 3, 48623903: 48623903
43 COL7A1 NM_000094.3(COL7A1): c.3233G> A (p.Arg1078His) single nucleotide variant Uncertain significance rs748471791 GRCh38 Chromosome 3, 48587015: 48587015
44 COL7A1 NM_000094.3(COL7A1): c.3233G> A (p.Arg1078His) single nucleotide variant Uncertain significance rs748471791 GRCh37 Chromosome 3, 48624448: 48624448
45 COL7A1 NM_000094.3(COL7A1): c.2146A> G (p.Arg716Gly) single nucleotide variant Uncertain significance rs143040168 GRCh37 Chromosome 3, 48627056: 48627056
46 COL7A1 NM_000094.3(COL7A1): c.2146A> G (p.Arg716Gly) single nucleotide variant Uncertain significance rs143040168 GRCh38 Chromosome 3, 48589623: 48589623
47 COL7A1 NM_000094.3(COL7A1): c.1628G> A (p.Ser543Asn) single nucleotide variant Uncertain significance rs76410546 GRCh37 Chromosome 3, 48628905: 48628905
48 COL7A1 NM_000094.3(COL7A1): c.1628G> A (p.Ser543Asn) single nucleotide variant Uncertain significance rs76410546 GRCh38 Chromosome 3, 48591472: 48591472
49 COL7A1 NM_000094.3(COL7A1): c.1468G> A (p.Gly490Ser) single nucleotide variant Uncertain significance rs143372872 GRCh37 Chromosome 3, 48629145: 48629145
50 COL7A1 NM_000094.3(COL7A1): c.1468G> A (p.Gly490Ser) single nucleotide variant Uncertain significance rs143372872 GRCh38 Chromosome 3, 48591712: 48591712

Expression for Epidermolysis Bullosa Dystrophica

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

Pathways for Epidermolysis Bullosa Dystrophica

GO Terms for Epidermolysis Bullosa Dystrophica

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.63 BMP1 COL7A1 FBN1 MMP1 MMP10 MMP3
2 basement membrane GO:0005604 9.13 COL7A1 DST FBN1
3 extracellular matrix GO:0031012 9.02 COL7A1 FBN1 MMP1 MMP10 MMP3

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

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.56 BMP1 MMP1 MMP10 MMP3
2 collagen catabolic process GO:0030574 9.26 COL7A1 MMP1 MMP10 MMP3
3 positive regulation of protein oligomerization GO:0032461 9.16 MMP1 MMP3
4 extracellular matrix disassembly GO:0022617 9.02 BMP1 FBN1 MMP1 MMP10 MMP3

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

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

Sources for Epidermolysis Bullosa Dystrophica

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