DEB
MCID: EPD009
MIFTS: 55

Epidermolysis Bullosa Dystrophica (DEB) malady

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

Aliases & Classifications for Epidermolysis Bullosa Dystrophica

Aliases & Descriptions 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
Epidermolysis Bullosa, Dystrophic 25 29
Deb 23 50
Epidermolysis Bullosa, Dermolytic 50
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 penetrance therefore appears to be less than 100%, at least in ddeb [almaani et al 2011; pfendner, unpublished observation]...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:



External Ids:

Disease Ontology 12 DOID:4959
ICD10 33 Q81.2
MeSH 42 D016108
NCIt 47 C84691
SNOMED-CT 64 205587006 254185007
UMLS 69 C0079294

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 ebd, bart type and epidermolysis bullosa dystrophica, ar, and has symptoms including finger syndactyly, failure to thrive and dysphagia. 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 Adjuvants, Immunologic 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 : 71 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 62)
id Related Disease Score Top Affiliating Genes
1 ebd, bart type 33.0 COL7A1 MMP1
2 epidermolysis bullosa dystrophica, ar 12.7
3 epidermolysis bullosa dystrophica, ad 12.6
4 epidermolysis bullosa, pretibial 12.0
5 transient bullous of the newborn 11.6
6 recessive dystrophic epidermolysis bullosa 11.5
7 epidermolysis bullosa pruriginosa 11.5
8 recessive dystrophic epidermolysis bullosa, generalized, severe, modifier of 11.1
9 dominant dystrophic epidermolysis bullosa 11.1
10 epidermolysis bullosa 11.0
11 esophagitis 10.5
12 squamous cell carcinoma 10.5
13 symmastia 10.2 MMP1 MMP3
14 kleptomania 10.2 MMP1 MMP3
15 cystic lymphangioma 10.2 MMP1 MMP3
16 angiomyoma 10.2 MMP1 MMP3
17 pasteurellosis 10.2 MMP1 MMP3
18 idiopathic corneal edema 10.2 MMP1 MMP3
19 zika fever 10.2 MMP1 MMP3
20 dystrophic epidermolysis bullosa, nails only 10.2
21 acral dystrophic epidermolysis bullosa 10.2
22 centripetalis recessive dystrophic epidermolysis bullosa 10.2
23 recessive dystrophic epidermolysis bullosa-generalized other 10.2
24 ataxia 10.1
25 cerebellar ataxia 10.1
26 schwannomatosis 10.1 FBN1 MMP3
27 kashin-beck disease 10.1 MMP1 MMP3
28 cortical blindness mental retardation polydactyly 10.1 MMP1 MMP3
29 algoneurodystrophy 10.1 FBN1 MMP1
30 glaucoma 1, open angle, n 10.1 FBN1 MMP1
31 carotenemia 10.1 MMP1 MMP3
32 cataract 18, autosomal recessive 10.1 COL7A1 FLG MMP1
33 catecholaminergic polymorphic ventricular tachycardia 10.1 COL7A1 FLG MMP1
34 dyskinesia of esophagus 10.0 COL7A1 DST
35 germ cell and embryonal cancer 10.0 MMP1 MMP3
36 spinocerebellar ataxia 23 10.0 COL7A1 DST
37 epidermolytic acanthoma 10.0 COL7A1 DST
38 mixed ductal-endocrine carcinoma 10.0 FBN1 MMP1 MMP3
39 bilirubin metabolic disorder 10.0 COL7A1 DST
40 adult-onset distal myopathy due to vcp mutation 10.0 FBN1 FLG MMP1
41 sarcoma 10.0
42 syndactyly 10.0
43 pelger-huet anomaly 10.0
44 pharyngitis 10.0
45 hyperglobulinemic purpura 10.0
46 purpura 10.0
47 laryngitis 10.0
48 epidermolysis bullosa acquisita 10.0
49 osteoporosis 10.0
50 colonic disease 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 finger syndactyly 32 HP:0006101
2 failure to thrive 32 HP:0001508
3 dysphagia 32 HP:0002015
4 hearing impairment 32 HP:0000365
5 chronic otitis media 32 HP:0000389
6 carious teeth 32 HP:0000670
7 renal insufficiency 32 HP:0000083
8 anemia 32 HP:0001903
9 abnormal blistering of the skin 32 HP:0008066
10 congestive heart failure 32 HP:0001635
11 corneal erosion 32 HP:0200020
12 nephrotic syndrome 32 HP:0000100
13 hypopigmented skin patches 32 HP:0001053
14 glomerulopathy 32 HP:0100820
15 blepharitis 32 HP:0000498
16 aplasia/hypoplasia of the skin 32 HP:0008065
17 abnormality of dental enamel 32 HP:0000682
18 cheilitis 32 HP:0100825
19 eczema 32 HP:0000964
20 stroke 32 HP:0001297
21 nasolacrimal duct obstruction 32 HP:0000579
22 camptodactyly of finger 32 HP:0100490
23 toe syndactyly 32 HP:0001770
24 flexion contracture of toe 32 HP:0005830
25 furrowed tongue 32 HP:0000221
26 ectropion 32 HP:0000656
27 gangrene 32 HP:0100758
28 dilated cardiomyopathy 32 HP:0001644
29 recurrent skin infections 32 HP:0001581
30 dystrophic toenail 32 HP:0001810
31 dystrophic fingernails 32 HP:0008391
32 squamous cell carcinoma 32 HP:0002860
33 immunologic hypersensitivity 32 HP:0100326
34 abnormality of the anus 32 HP:0004378
35 urinary retention 32 HP:0000016
36 ureteral stenosis 32 HP:0000071
37 scarring 32 HP:0100699
38 laryngeal stenosis 32 HP:0001602
39 milia 32 HP:0001056
40 phimosis 32 HP:0001741
41 esophageal stricture 32 HP:0002043
42 interstitial pulmonary abnormality 32 HP:0006530
43 acute constipation 32 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 Adjuvants, Immunologic Phase 2
3 Neuroprotective Agents Phase 2
4
Epigallocatechin gallate Phase 2 989-51-5 65064
5 Protective Agents Phase 2
6 Antioxidants Phase 2
7 Gentamicins Phase 1, Phase 2
8 Anesthetics Phase 1, Phase 2
9 Anesthetics, General Phase 1, Phase 2
10 Anti-Bacterial Agents Phase 1, Phase 2
11 Anti-Infective Agents Phase 1, Phase 2
12 Anti-Inflammatory Agents Phase 1, Phase 2
13 Antibiotics, Antitubercular 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
Heparin Approved, Investigational 9005-49-6 772 46507594
19
Tacrolimus Approved, Investigational Early Phase 1 104987-11-3 445643 439492
20
Fludarabine Approved Early Phase 1 21679-14-1, 75607-67-9 30751
21
Busulfan Approved, Investigational Early Phase 1 55-98-1 2478
22
alemtuzumab Approved, Investigational Early Phase 1 216503-57-0
23
Lorazepam Approved Early Phase 1 846-49-1 3958
24
Edetic Acid Approved, Vet_approved 60-00-4, 62-33-9 6049
25
Petrolatum Approved 8009-03-8
26
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
27 calcium heparin
28 Pentetic Acid
29 Immunoglobulins
30 Antibodies
31 Autoantibodies
32 Alkylating Agents
33 Immunosuppressive Agents
34 Antimetabolites
35 Antimetabolites, Antineoplastic
36 Antirheumatic Agents
37 Antineoplastic Agents, Alkylating

Interventional clinical trials:

(show all 30)
id Name Status NCT ID Phase
1 A Comparative Study of the Healing of Chronic Ulcers of Recessive Epidermolysis Bullosa : Dressing vs Amniotic Membrane Recruiting NCT02286427 Phase 3
2 ESSENCE Study: Efficacy and Safety of SD-101 Cream in Patients With Epidermolysis Bullosa Active, not recruiting NCT02384460 Phase 3
3 Safety and Efficacy of Apligraf in Nonhealing Wounds of Subjects With Junctional or Dystrophic Epidermolysis Bullosa (EB) Terminated NCT00587223 Phase 3
4 Efficacy of Granulocyte Colony Stimulating Factor (GCSF) In Patients With Dystrophic Epidermolysis Bullosa Completed NCT01538862 Phase 2
5 Treatment of Epidermolysis Bullosa Dystrophica by Polyphenon E (Epigallocatechin 3 Gallate) Completed NCT00951964 Phase 2
6 Study of Effectiveness and Safety of SD-101 in Subjects With Epidermolysis Bullosa Completed NCT02014376 Phase 2
7 Study to Evaluate the Safety of ALLO-ASC-DFU in the Subjects With Dystrophic Epidermolysis Bullosa Recruiting NCT02579369 Phase 1, Phase 2
8 A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT02810951 Phase 1, Phase 2
9 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa Patients With Nonsense Mutations Recruiting NCT03012191 Phase 1, Phase 2
10 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
11 Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa Recruiting NCT01263379 Phase 1, Phase 2
12 Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT02323789 Phase 1, Phase 2
13 A Pilot Study of HP802-247 in Dystrophic Epidermolysis Bullosa Withdrawn NCT01528306 Phase 2
14 Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00014729 Phase 1
15 Autologous Transplantation of Cultured Fibroblast on Amniotic Membrane in Patients With Epidermolysis Bullosa Completed NCT01908088 Phase 1
16 Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis Bullosa Recruiting NCT02493816 Phase 1
17 Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT01874769
18 Allogeneic Stem Cell Transplantation (ALLOSCT) in Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT00881556 Early Phase 1
19 Characteristics of Adult Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00904163
20 Treatment of Chronic and Non-Chronic Wounds in Patients With Recessive Dystrophic Epidermolysis Bullosa Using Helicoll Collagen Dressings Versus Standard of Care Completed NCT01716169
21 Short Term Observational Study in DEB Patients Completed NCT02178969
22 Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa Recruiting NCT01019148
23 Survey to Identify Burdens and Unmet Needs of Patients With Epidermolysis Bullosa Recruiting NCT03158662
24 Open Label Extension Study to Evaluate the Safety of SD-101 Cream in Subjects With Epidermolysis Bullosa Active, not recruiting NCT02090283
25 Open Label Extension Study to Evaluate the Long-term Safety of Zorblisa (SD-101-6.0) in Patients With Epidermolysis Bullosa Active, not recruiting NCT02670330
26 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients Enrolling by invitation NCT02698735
27 Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene Transfer Terminated NCT00533572
28 Allogeneic Hematopoietic Stem Cell Transplant For Epidermolysis Bullosa Terminated NCT00478244
29 Prospective, Longitudinal Natural History Study in Dystrophic Epidermolysis Bullosa Withdrawn NCT01768026
30 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, Tongue, 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:
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 131)
id Title Authors Year
1
Feasibility, efficacy, and safety of ultrasound-guided axillary plexus blockade in pediatric patients with epidermolysis bullosa dystrophica. ( 26857539 )
2016
2
Anaesthetic management in a paediatric patient with a difficult airway due to epidermolysis bullosa dystrophica. ( 25497148 )
2015
3
A two-step multidisciplinary approach to treat recurrent esophageal strictures in children with epidermolysis bullosa dystrophica. ( 25590175 )
2015
4
Oral manifestations and challenges in dental treatment of epidermolysis bullosa dystrophica. ( 24011299 )
2013
5
Vascular access for chronic hemodialysis in a patient with epidermolysis bullosa dystrophica Hallopeau-Siemens. ( 22520719 )
2013
6
Oral manifestations of epidermolysis bullosa dystrophica: a rare genetic disease. ( 23349175 )
2013
7
Chronic leg ulcers as a rare cause for the first diagnosis of epidermolysis bullosa dystrophica. ( 22974048 )
2012
8
Severe osteoporosis treated with teriparatide in a patient affected by recessive epidermolysis bullosa dystrophica. ( 20458569 )
2011
9
Airway management in adult patients with epidermolysis bullosa dystrophica: a case series. ( 21831082 )
2011
10
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. ( 20108434 )
2010
11
Ocular surface reconstruction with cultivated limbal epithelium in a patient with unilateral stem cell deficiency caused by Epidermolysis bullosa dystrophica hallopeau-Siemens. ( 20164760 )
2010
12
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. ( 20108428 )
2010
13
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. ( 20108398 )
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. ( 19694004 )
2009
16
Acquired syndactyly in epidermolysis bullosa dystrophica. ( 21691395 )
2009
17
Laryngeal stenosis in epidermolysis bullosa dystrophica. ( 18479854 )
2009
18
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. ( 19694005 )
2009
19
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. ( 19694003 )
2009
20
Clinical management for epidermolysis bullosa dystrophica. ( 19089295 )
2008
21
Large metastasizing squamous cell carcinoma in epidermolysis bullosa dystrophica Hallopeau-Siemens. ( 17373986 )
2007
22
Death from colonic disease in epidermolysis bullosa dystrophica. ( 16480504 )
2006
23
Management of squamous cell carcinoma in a patient with recessive-type epidermolysis bullosa dystrophica. ( 15522026 )
2004
24
Fluoroscopically guided endoluminal balloon dilatation of esophageal stricture due to epidermolysis bullosa dystrophica. ( 12140654 )
2002
25
Anesthetic implications in epidermolysis bullosa dystrophica. ( 11759144 )
2001
26
Spinal anaesthesia in a patient with epidermolysis bullosa dystrophica. ( 10969376 )
2000
27
Epidermolysis bullosa dystrophica of Hallopeau-Siemens and squamous-cell carcinoma: a case report. ( 8864399 )
1996
28
Neonatal retention of type VII collagen, transient bullous dermolysis of the newborn and recessive epidermolysis bullosa dystrophica inversa. ( 8204486 )
1994
29
Image interpretation session: 1992. Esophageal strictures and squamous cell carcinoma of the maxillary sinus and palate in recessive epidermolysis bullosa dystrophica. ( 8426919 )
1993
30
Chronic recurrent esophageal strictures treated with balloon dilation in children with autosomal recessive epidermolysis bullosa dystrophica. ( 8503396 )
1993
31
Cornea plana and sclerocornea in association with recessive epidermolysis bullosa dystrophica. Case report. ( 1559352 )
1992
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
Squamous cell carcinoma developing in epidermolysis bullosa dystrophica. ( 1955228 )
1991
34
Cerebellar ataxia in a family with recurrent epidermolysis bullosa dystrophica. ( 1952992 )
1991
35
Epidermolysis bullosa dystrophica inversa in a child. ( 2193305 )
1990
36
Absence of platelet aggregation activity in blister fluids from epidermolysis bullosa dystrophica and epidermolysis bullosa acquisita. ( 2288902 )
1990
37
Management of oesophageal stenosis in epidermolysis bullosa dystrophica. ( 2751329 )
1989
38
Management of esophageal spasm in epidermolysis bullosa dystrophica using verapamil. ( 2732859 )
1989
39
Dilated cardiomyopathy complicating a case of epidermolysis bullosa dystrophica. ( 2704658 )
1989
40
Dermatology diagnosis. Epidermolysis bullosa dystrophica. ( 3166664 )
1988
41
Regional anesthesia in children with epidermolysis bullosa dystrophica. ( 3345006 )
1988
42
The spectrum of renal involvement in epidermolysis bullosa dystrophica hereditaria: report of two cases. ( 3369444 )
1988
43
Anaesthetic management in patients with epidermolysis bullosa dystrophica. ( 3407874 )
1988
44
Osteogenic sarcoma of the tibia in a patient with epidermolysis bullosa dystrophica. ( 3422608 )
1988
45
Successful prosthetic fitting of a patient with epidermolysis bullosa dystrophica. Case report. ( 3377888 )
1988
46
Collagen biosynthesis in a case of epidermolysis bullosa dystrophica recessiva. ( 2436409 )
1987
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
Blistering eruption in healthy newborns. Case 3. Epidermolysis bullosa dystrophica. ( 3947131 )
1986
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
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 9.43 MMP1 MMP10 MMP3
2 metallopeptidase activity GO:0008237 9.33 MMP1 MMP10 MMP3
3 metalloendopeptidase activity GO:0004222 9.13 MMP1 MMP10 MMP3
4 calcium ion binding GO:0005509 9.1 DST FBN1 FLG 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
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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