MCID: EPD009
MIFTS: 56

Epidermolysis Bullosa Dystrophica

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

Aliases & Classifications for Epidermolysis Bullosa Dystrophica

MalaCards integrated aliases for Epidermolysis Bullosa Dystrophica:

Name: Epidermolysis Bullosa Dystrophica 38 12 23 50 24 25 42 14 69
Dystrophic Epidermolysis Bullosa 12 23 50 24 25 29
Deb 23 50
Epidermolysis Bullosa, Dermolytic 50
Epidermolysis Bullosa, Dystrophic 25
Dermolytic Epidermolysis Bullosa 50
Epidermolysis Bullosa Dystrophic 52

Characteristics:

GeneReviews:

23
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 penetrance therefore appears to be less than 100%, at least in ddeb [almaani et al 2011; pfendner, unpublished observation]...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 : 50 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. last updated: 9/29/2015

MalaCards based summary : Epidermolysis Bullosa Dystrophica, also known as dystrophic epidermolysis bullosa, is related to epidermolysis bullosa, pretibial and epidermolysis bullosa dystrophica, ar, and has symptoms including failure to thrive, dysphagia and anemia. 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 Degradation of the extracellular matrix. The drugs Lenograstim and Epigallocatechin gallate have been mentioned in the context of this disorder. Affiliated tissues include Dermis and Dermis.

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 : 72 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, Ad Epidermolysis Bullosa Dystrophica, Ar

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

(show top 50) (show all 65)
id Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa, pretibial 33.8 COL7A1 MMP1
2 epidermolysis bullosa dystrophica, ar 12.7
3 epidermolysis bullosa dystrophica, ad 12.6
4 ebd, bart type 11.8
5 transient bullous of the newborn 11.6
6 epidermolysis bullosa pruriginosa 11.5
7 recessive dystrophic epidermolysis bullosa 11.5
8 dominant dystrophic epidermolysis bullosa 11.1
9 recessive dystrophic epidermolysis bullosa, generalized, severe, modifier of 11.1
10 epidermolysis bullosa 11.1
11 supranuclear ocular palsy 10.5 MMP1 MMP3
12 kleptomania 10.5 MMP1 MMP3
13 congenital chloride diarrhea 10.5 MMP1 MMP3
14 early myoclonic encephalopathy 10.5 MMP1 MMP3
15 esophagitis 10.5
16 gait apraxia 10.5 MMP1 MMP3
17 secondary corneal edema 10.5 MMP1 MMP3
18 squamous cell carcinoma 10.5
19 west syndrome 10.4 MMP1 MMP3
20 myopathy 10.4 MMP1 MMP10
21 corpus callosum agenesis of blepharophimosis robin type 10.4 MMP1 MMP3
22 residual stage corticosteroid-induced glaucoma 10.4 MMP1 MMP3
23 charcot-marie-tooth disease, axonal, type 2cc 10.3 FBN1 MMP3
24 salt and pepper syndrome 10.3 MMP1 MMP3
25 bleeding disorder, platelet-type, 21 10.3 FBN1 MMP1
26 nervous system cancer 10.2 MMP1 MMP3
27 microphthalmia, syndromic 9 10.2 FBN1 MMP1
28 mastoiditis 10.2 FBN1 MMP1
29 recessive dystrophic epidermolysis bullosa-generalized other 10.2
30 dystrophic epidermolysis bullosa, nails only 10.2
31 acral dystrophic epidermolysis bullosa 10.2
32 centripetalis recessive dystrophic epidermolysis bullosa 10.2
33 cerebellar ataxia 10.1
34 ataxia 10.1
35 mesenchymal cell neoplasm 10.1 MMP1 MMP3
36 synovium cancer 10.1 MMP1 MMP3
37 spermatogenic failure 18 10.1 COL7A1 FLG MMP1
38 autosomal recessive congenital ichthyosis 10.1 COL7A1 FLG MMP1
39 thoracic spinal canal and spinal cord meningioma 10.1 FBN1 MMP1
40 rectum carcinoma in situ 10.1 COL7A1 DST
41 bilirubin metabolic disorder 10.1 COL7A1 DST
42 pilar sheath acanthoma 10.0 COL7A1 DST
43 spinocerebellar ataxia 23 10.0 COL7A1 DST
44 pancreatic acth hormone producing tumor 10.0 FBN1 MMP1 MMP3
45 colonic disease 10.0
46 pityriasis rosea 10.0
47 osteoporosis 10.0
48 dilated cardiomyopathy 10.0
49 sclerocornea 10.0
50 cardiomyopathy 10.0

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

Drugs & Therapeutics for Epidermolysis Bullosa Dystrophica

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

(show all 37)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved Phase 2 135968-09-1
2
Epigallocatechin gallate Investigational Phase 2 989-51-5 65064
3 Antioxidants Phase 2
4 Neuroprotective Agents Phase 2
5 Protective Agents Phase 2
6 Adjuvants, Immunologic Phase 2
7 Anesthetics Phase 1, Phase 2
8 Anesthetics, General Phase 1, Phase 2
9 Anti-Bacterial Agents Phase 1, Phase 2
10 Antibiotics, Antitubercular Phase 1, Phase 2
11 Anti-Inflammatory Agents Phase 1, Phase 2
12 Anti-Infective Agents Phase 1, Phase 2
13 Gentamicins Phase 1, Phase 2
14 Mitogens Phase 1, Phase 2
15
Epigallocatechin Experimental, Nutraceutical Phase 2 970-74-1 72277
16
Isotretinoin Approved Phase 1 4759-48-2 5538 5282379
17 Dermatologic Agents Phase 1
18
Edetic Acid Approved, Vet_approved 60-00-4, 62-33-9 6049
19
Heparin Approved, Investigational 9005-49-6 772 46507594
20
alemtuzumab Approved, Investigational Early Phase 1 216503-57-0
21
Busulfan Approved, Investigational Early Phase 1 55-98-1 2478
22
Fludarabine Approved Early Phase 1 21679-14-1, 75607-67-9 30751
23
Lorazepam Approved Early Phase 1 846-49-1 3958
24
Tacrolimus Approved, Investigational Early Phase 1 104987-11-3 445643 439492
25
Petrolatum Approved 8009-03-8
26
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
27 Antibodies
28 Autoantibodies
29 calcium heparin
30 Immunoglobulins
31 Pentetic Acid
32 Endothelial Growth Factors
33 Alkylating Agents
34 Antimetabolites
35 Antimetabolites, Antineoplastic
36 Antirheumatic Agents
37 Immunosuppressive Agents

Interventional clinical trials:

(show all 27)

id 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 Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa Recruiting NCT01263379 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 Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT02323789 Phase 1, Phase 2 Mesenchymal stromal cells
11 A Pilot Study of HP802-247 in Dystrophic Epidermolysis Bullosa Withdrawn NCT01528306 Phase 2
12 Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00014729 Phase 1 isotretinoin
13 Autologous Transplantation of Cultured Fibroblast on Amniotic Membrane in Patients With Epidermolysis Bullosa Completed NCT01908088 Phase 1
14 Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis Bullosa Recruiting NCT02493816 Phase 1 Gene-modified autologous fibroblasts
15 Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT01874769
16 Allogeneic Stem Cell Transplantation (ALLOSCT) in Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT00881556 Early Phase 1 Reduced Intensity Transplant conditioning
17 Characteristics of Adult Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00904163
18 Treatment of Chronic and Non-Chronic Wounds in Patients With Recessive Dystrophic Epidermolysis Bullosa Using Helicoll Collagen Dressings Versus Standard of Care Completed NCT01716169
19 Short Term Observational Study in DEB Patients Completed NCT02178969
20 Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa Recruiting NCT01019148
21 Proof of Concept Study for a Dressing Glove Recruiting NCT03241628
22 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients Enrolling by invitation NCT02698735 Gentamicin;Placebo
23 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
24 Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene Transfer Terminated NCT00533572
25 Allogeneic Hematopoietic Stem Cell Transplant For Epidermolysis Bullosa Terminated NCT00478244 busulfan;cyclophosphamide;fludarabine phosphate
26 Prospective, Longitudinal Natural History Study in Dystrophic Epidermolysis Bullosa Withdrawn NCT01768026
27 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

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:

id Genetic test Affiliating Genes
1 Dystrophic Epidermolysis Bullosa 29 24 COL7A1

Anatomical Context for Epidermolysis Bullosa Dystrophica

MalaCards organs/tissues related to Epidermolysis Bullosa Dystrophica:

39
Skin, Heart, Endothelial, Tongue, Colon, Trachea
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Epidermolysis Bullosa Dystrophica:
id 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)
id 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
Anaesthetic management in a paediatric patient with a difficult airway due to epidermolysis bullosa dystrophica. ( 25497148 )
2015
4
A two-step multidisciplinary approach to treat recurrent esophageal strictures in children with epidermolysis bullosa dystrophica. ( 25590175 )
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. ( 20108434 )
2010
13
Anesthesia for balloon dilatation of esophageal strictures in children with epidermolysis bullosa dystrophica: from intubation to sedation. ( 20543680 )
2010
14
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. ( 20108398 )
2010
15
Ocular surface reconstruction with cultivated limbal epithelium in a patient with unilateral stem cell deficiency caused by Epidermolysis bullosa dystrophica hallopeau-Siemens. ( 20164760 )
2010
16
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. ( 19694003 )
2009
17
Acquired syndactyly in epidermolysis bullosa dystrophica. ( 21691395 )
2009
18
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. ( 19694004 )
2009
19
Laryngeal stenosis in epidermolysis bullosa dystrophica. ( 18479854 )
2009
20
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. ( 19694005 )
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
Image interpretation session: 1992. Esophageal strictures and squamous cell carcinoma of the maxillary sinus and palate in recessive epidermolysis bullosa dystrophica. ( 8426919 )
1993
31
Chronic recurrent esophageal strictures treated with balloon dilation in children with autosomal recessive epidermolysis bullosa dystrophica. ( 8503396 )
1993
32
Cornea plana and sclerocornea in association with recessive epidermolysis bullosa dystrophica. Case report. ( 1559352 )
1992
33
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
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
Management of esophageal spasm in epidermolysis bullosa dystrophica using verapamil. ( 2732859 )
1989
39
Management of oesophageal stenosis in epidermolysis bullosa dystrophica. ( 2751329 )
1989
40
Dilated cardiomyopathy complicating a case of epidermolysis bullosa dystrophica. ( 2704658 )
1989
41
Successful prosthetic fitting of a patient with epidermolysis bullosa dystrophica. Case report. ( 3377888 )
1988
42
Anaesthetic management in patients with epidermolysis bullosa dystrophica. ( 3407874 )
1988
43
Regional anesthesia in children with epidermolysis bullosa dystrophica. ( 3345006 )
1988
44
Dermatology diagnosis. Epidermolysis bullosa dystrophica. ( 3166664 )
1988
45
Osteogenic sarcoma of the tibia in a patient with epidermolysis bullosa dystrophica. ( 3422608 )
1988
46
The spectrum of renal involvement in epidermolysis bullosa dystrophica hereditaria: report of two cases. ( 3369444 )
1988
47
Epidermolysis bullosa dystrophica et albopapuloidea (Pasini) ( 3571561 )
1987
48
Autosomal dominant epidermolysis bullosa dystrophica: are the Cockayne-Touraine, the Pasini and the Bart-types different expressions of the same mutant gene? ( 3621647 )
1987
49
Collagen biosynthesis in a case of epidermolysis bullosa dystrophica recessiva. ( 2436409 )
1987
50
Blistering eruption in healthy newborns. Case 3. Epidermolysis bullosa dystrophica. ( 3947131 )
1986

Variations for Epidermolysis Bullosa Dystrophica

ClinVar genetic disease variations for Epidermolysis Bullosa Dystrophica:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 COL7A1 NM_000094.3(COL7A1): c.5797C> T (p.Arg1933Ter) single nucleotide variant Pathogenic rs757415879 GRCh37 Chromosome 3, 48613705: 48613705
2 COL7A1 NM_000094.3(COL7A1): c.1637-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs886058642 GRCh37 Chromosome 3, 48628250: 48628250

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:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.35 COL7A1 FBN1 MMP1 MMP10 MMP3
2 basement membrane GO:0005604 9.33 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:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix disassembly GO:0022617 9.26 FBN1 MMP1 MMP10 MMP3
2 positive regulation of protein oligomerization GO:0032461 9.16 MMP1 MMP3
3 collagen catabolic process GO:0030574 8.92 COL7A1 MMP1 MMP10 MMP3

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

id Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 9.33 MMP1 MMP10 MMP3
2 metallopeptidase activity GO:0008237 9.13 MMP1 MMP10 MMP3
3 metalloendopeptidase activity GO:0004222 8.8 MMP1 MMP10 MMP3

Sources for Epidermolysis Bullosa Dystrophica

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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