RDEB
MCID: RCS002
MIFTS: 50

Recessive Dystrophic Epidermolysis Bullosa (RDEB) malady

Categories: Rare diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Recessive Dystrophic Epidermolysis Bullosa

Aliases & Descriptions for Recessive Dystrophic Epidermolysis Bullosa:

Name: Recessive Dystrophic Epidermolysis Bullosa 12 50 24 29 14 38
Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type 12 50
Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis 12 50
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa 12 50
Rdeb, Hallopeau-Siemens Type 12 50
Severe Generalized Rdeb 12 50
Rdeb-Sev Gen 50 24
Recessive Dystrophic Epidermolysis Bullosa, Generalized, Severe 24
Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized 50
Hallopeau-Siemens Type, Rdeb 24
Hallopeau-Siemens Disease 69
Rdeb Generalisata Gravis 50
Rdeb, Severe Generalized 50
Rdeb-Hs 24
Rdeb 24

Classifications:



External Ids:

Disease Ontology 12 DOID:0060642
ICD10 33 Q81.2

Summaries for Recessive Dystrophic Epidermolysis Bullosa

NIH Rare Diseases : 50 severe generalized recessive dystrophic epidermolysis bullosa is the most severe types of dystrophic epidermolysis bullosa. the signs and symptoms of this condition involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. as the blisters heal, they result in severe scarring. scarring in the mouth and esophagus can make it difficult to eat food, leading to poor nutrition and slow growth. additionally, individuals with this condition have a very high risk of developing a form of skin cancer called squamous cell carcinoma, which tends to be unusually aggressive and is often life-threatening. severe generalized recessive dystrophic epidermolysis bullosa is caused by mutations in the col7a1 gene and is inherited in an autosomal recessive pattern. there is no cure for this condition and treatment is aimed at preventing blisters from forming and managing symptoms. last updated: 2/5/2014

MalaCards based summary : Recessive Dystrophic Epidermolysis Bullosa, also known as autosomal recessive dystrophic epidermolysis bullosa, hallopeau-siemens type, is related to recessive dystrophic epidermolysis bullosa-generalized other and centripetalis recessive dystrophic epidermolysis bullosa, and has symptoms including pruritus, constipation and osteopenia. An important gene associated with Recessive Dystrophic Epidermolysis Bullosa is COL7A1 (Collagen Type VII Alpha 1 Chain), and among its related pathways/superpathways are Degradation of the extracellular matrix and Rheumatoid arthritis. The drugs Anti-Bacterial Agents and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow, and related phenotype is Increased shRNA abundance (Z-score > 2).

Disease Ontology : 12 An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has material basis in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21.

Related Diseases for Recessive Dystrophic Epidermolysis Bullosa

Diseases in the Dominant Dystrophic Epidermolysis Bullosa family:

Recessive Dystrophic Epidermolysis Bullosa

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

(show all 43)
id Related Disease Score Top Affiliating Genes
1 recessive dystrophic epidermolysis bullosa-generalized other 12.4
2 centripetalis recessive dystrophic epidermolysis bullosa 12.2
3 recessive dystrophic epidermolysis bullosa, generalized, severe, modifier of 12.2
4 epidermolysis bullosa dystrophica, ar 12.0
5 epidermolysis bullosa 11.3
6 squamous cell carcinoma 10.8
7 esophagitis 10.5
8 amyloidosis 10.3
9 ebd, bart type 10.2 COL7A1 MMP1
10 glomerulonephritis 10.2
11 cardiomyopathy 10.2
12 adult-onset distal myopathy due to vcp mutation 10.1 FLG MMP1
13 diffuse large b-cell lymphoma 10.1 MMP1 TGFB1
14 noonan syndrome 4 10.1 MMP1 TGFB1
15 leber congenital amaurosis 10.1 MMP1 TGFB1
16 hereditary night blindness 10.1 MMP1 TGFB1
17 zika fever 10.1 MMP1 TGFB1
18 cholera 10.0 MMP1 TGFB1
19 cataract 18, autosomal recessive 10.0 COL7A1 FLG MMP1
20 fecal incontinence 10.0 COL7A1 FLG MMP1
21 melanoma 10.0
22 dental caries 10.0
23 basal cell carcinoma 10.0
24 breast cancer 10.0
25 iga glomerulonephritis 10.0
26 osteoporosis 10.0
27 hidrocystoma 10.0
28 marfan syndrome 10.0
29 epidermolysis bullosa simplex 10.0
30 arteriovenous fistula 10.0
31 peritonitis 10.0
32 dilated cardiomyopathy 10.0
33 dwarfism 10.0
34 hepatitis 10.0
35 left ventricular noncompaction 10.0
36 nephrotic syndrome 10.0
37 anti-p200 pemphigoid 10.0
38 ichthyosis 10.0
39 splenic marginal zone lymphoma 10.0 ARG1 TGFB1
40 germ cell and embryonal cancer 9.9 MMP1 TGFB1
41 immunoglobulin g deficiency 9.8 HMGB1 TGFB1
42 rheumatoid arthritis 9.6 FLG HMGB1 MMP1 TGFB1
43 catecholaminergic polymorphic ventricular tachycardia 8.9 ARG1 COL7A1 FLG HMGB1 MMP1 PLOD3

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



Diseases related to Recessive Dystrophic Epidermolysis Bullosa

Symptoms & Phenotypes for Recessive Dystrophic Epidermolysis Bullosa

Human phenotypes related to Recessive Dystrophic Epidermolysis Bullosa:

32 (show all 28)
id Description HPO Frequency HPO Source Accession
1 pruritus 32 HP:0000989
2 constipation 32 HP:0002019
3 osteopenia 32 HP:0000938
4 dysphagia 32 HP:0002015
5 carious teeth 32 HP:0000670
6 flexion contracture 32 HP:0001371
7 delayed puberty 32 HP:0000823
8 osteoporosis 32 HP:0000939
9 abnormal blistering of the skin 32 HP:0008066
10 corneal erosion 32 HP:0200020
11 progressive visual loss 32 HP:0000529
12 blepharitis 32 HP:0000498
13 loss of eyelashes 32 HP:0011457
14 narrow mouth 32 HP:0000160
15 ectropion 32 HP:0000656
16 dilated cardiomyopathy 32 HP:0001644
17 abnormality of the anus 32 HP:0004378
18 squamous cell carcinoma of the skin 32 HP:0006739
19 hypoalbuminemia 32 HP:0003073
20 absent toenail 32 HP:0001802
21 absent fingernail 32 HP:0001817
22 ankyloglossia 32 HP:0010296
23 dermal atrophy 32 HP:0004334
24 milia 32 HP:0001056
25 scarring alopecia of scalp 32 HP:0004552
26 esophageal stricture 32 HP:0002043
27 refractory anemia 32 HP:0005505
28 mitten deformity 32 HP:0004057

UMLS symptoms related to Recessive Dystrophic Epidermolysis Bullosa:


constipation, onychomadesis

GenomeRNAi Phenotypes related to Recessive Dystrophic Epidermolysis Bullosa according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.7 TGFB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.7 ARG1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.7 TGFB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.7 ARG1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.7 PLOD3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.7 ARG1 TGFB1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.7 TGFB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.7 ARG1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.7 TGFB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.7 PLOD3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.7 TGFB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.7 ARG1 PLOD3 TGFB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.7 ARG1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.7 PLOD3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.7 TGFB1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.7 TGFB1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.7 ARG1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.7 PLOD3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.7 PLOD3
20 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.7 PLOD3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.7 ARG1

Drugs & Therapeutics for Recessive Dystrophic Epidermolysis Bullosa

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

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

Interventional clinical trials:

(show all 22)
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 Study of Effectiveness and Safety of SD-101 in Subjects With Epidermolysis Bullosa Completed NCT02014376 Phase 2
4 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa Patients With Nonsense Mutations Recruiting NCT03012191 Phase 1, Phase 2
5 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
6 A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT02810951 Phase 1, Phase 2
7 Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa Recruiting NCT01263379 Phase 1, Phase 2
8 Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT02323789 Phase 1, Phase 2
9 Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00014729 Phase 1
10 Autologous Transplantation of Cultured Fibroblast on Amniotic Membrane in Patients With Epidermolysis Bullosa Completed NCT01908088 Phase 1
11 Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis Bullosa Recruiting NCT02493816 Phase 1
12 Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT01874769
13 Allogeneic Stem Cell Transplantation (ALLOSCT) in Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT00881556 Early Phase 1
14 Characteristics of Adult Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00904163
15 Treatment of Chronic and Non-Chronic Wounds in Patients With Recessive Dystrophic Epidermolysis Bullosa Using Helicoll Collagen Dressings Versus Standard of Care Completed NCT01716169
16 Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa Recruiting NCT01019148
17 Survey to Identify Burdens and Unmet Needs of Patients With Epidermolysis Bullosa Recruiting NCT03158662
18 Open Label Extension Study to Evaluate the Safety of SD-101 Cream in Subjects With Epidermolysis Bullosa Active, not recruiting NCT02090283
19 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
20 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients Enrolling by invitation NCT02698735
21 Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene Transfer Terminated NCT00533572
22 Allogeneic Hematopoietic Stem Cell Transplant For Epidermolysis Bullosa Terminated NCT00478244

Search NIH Clinical Center for Recessive Dystrophic Epidermolysis Bullosa

Genetic Tests for Recessive Dystrophic Epidermolysis Bullosa

Genetic tests related to Recessive Dystrophic Epidermolysis Bullosa:

id Genetic test Affiliating Genes
1 Recessive Dystrophic Epidermolysis Bullosa 29 24
2 Recessive Dystrophic Epidermolysis Bullosa, Generalized, Severe 24 COL7A1

Anatomical Context for Recessive Dystrophic Epidermolysis Bullosa

MalaCards organs/tissues related to Recessive Dystrophic Epidermolysis Bullosa:

39
Skin, Bone, Bone Marrow, Breast, Lymph Node, Ovary, Pons

Publications for Recessive Dystrophic Epidermolysis Bullosa

Articles related to Recessive Dystrophic Epidermolysis Bullosa:

(show top 50) (show all 332)
id Title Authors Year
1
Persistent elevation of serum interleukin-6 and serum amyloid A levels in patients with recessive dystrophic epidermolysis bullosa. ( 27777188 )
2016
2
Correction of recessive dystrophic epidermolysis bullosa by transposon-mediated integration of COL7A1 in transplantable patient-derived primary keratinocytes. ( 28027893 )
2016
3
Long-Term Follow-Up of Amniotic Membrane Graft for the Treatment of Symblepharon in a Patient With Recessive Dystrophic Epidermolysis Bullosa. ( 27124783 )
2016
4
Toxic Epidermal Necrolysis in Recessive Dystrophic Epidermolysis Bullosa following Bone Marrow Transplantation. ( 26976809 )
2016
5
Gene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes. ( 27045209 )
2016
6
Quality of Life and Economic Burden in Recessive Dystrophic Epidermolysis Bullosa. ( 26848213 )
2016
7
Canakinumab in recessive dystrophic epidermolysis bullosa: a novel unexpected weapon for non-healing wounds? ( 26885873 )
2016
8
Maintenance Hemodialysis Using Native Arteriovenous Fistula in a Patient with Severe Generalized Recessive Dystrophic Epidermolysis Bullosa. ( 27722157 )
2016
9
miR-29 Regulates Type VII Collagen in Recessive Dystrophic Epidermolysis Bullosa. ( 27328306 )
2016
10
The Importance of Esophagography in Patients With Recessive Dystrophic Epidermolysis Bullosa. ( 27384758 )
2016
11
A Non-Viral Gene Therapy for Treatment of Recessive Dystrophic Epidermolysis Bullosa. ( 27117059 )
2016
12
Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa. ( 27408687 )
2016
13
A type VII collagen subdomain mutant is thermolabile and shows enhanced proteolytic degradability - implications for the pathogenesis of recessive dystrophic epidermolysis bullosa? ( 27989960 )
2016
14
Recessive dystrophic epidermolysis bullosa caused by a de novo interstitial deletion spanning COL7A1 and a hemizygous splicing mutation in trans. ( 26940370 )
2016
15
Meganuclease-Mediated COL7A1 Gene Correction for Recessive Dystrophic Epidermolysis Bullosa. ( 26897595 )
2016
16
Integration-free T cell-derived human induced pluripotent stem cells (iPSCs) from a patient with recessive dystrophic epidermolysis bullosa (RDEB) carrying two compound heterozygous mutations in the COL7A1 gene. ( 27558600 )
2016
17
Gene-Corrected Fibroblast Therapy for Recessive Dystrophic Epidermolysis Bullosa using a Self-Inactivating COL7A1 RetroviralA Vector. ( 26994967 )
2016
18
Safety and Wound Outcomes Following Genetically Corrected Autologous Epidermal Grafts in Patients With Recessive Dystrophic Epidermolysis Bullosa. ( 27802546 )
2016
19
Type VII Collagen Replacement Therapy in Recessive Dystrophic Epidermolysis Bullosa-How Much, How Often? ( 27212645 )
2016
20
Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa. ( 27754488 )
2016
21
Pseudosyndactyly - an inflammatory and fibrotic wound healing disorder in recessive dystrophic epidermolysis bullosa. ( 26612796 )
2015
22
Potential of Systemic Allogeneic Mesenchymal Stromal Cell Therapy for Children With Recessive Dystrophic Epidermolysis Bullosa. ( 25905587 )
2015
23
Gene editing toward the use of autologous therapies in recessive dystrophic epidermolysis bullosa. ( 26073463 )
2015
24
Verruciform xanthoma developing in eroded skin of recessive dystrophic epidermolysis bullosa. ( 26242428 )
2015
25
Ventricular Dysfunction and Aortic Dilation in Patients with Recessive Dystrophic Epidermolysis Bullosa. ( 26370777 )
2015
26
Intravenously Administered Recombinant Human Type VII Collagen Derived from Chinese Hamster Ovary Cells Reverses the Disease Phenotype in Recessive Dystrophic Epidermolysis Bullosa Mice. ( 26203639 )
2015
27
Recessive dystrophic epidermolysis bullosa (RDEB) complicated by secondary hepatic amyloidosis. ( 27051772 )
2015
28
Innovative Therapeutic Strategies for Recessive Dystrophic Epidermolysis Bullosa. ( 25796272 )
2015
29
Peripheral neuro-immune pathology in recessive dystrophic epidermolysis bullosa. ( 25431850 )
2015
30
One Novel Frameshift Mutation on Exon 64 of COL7A1 Gene in an Iranian Individual Suffering Recessive Dystrophic Epidermolysis Bullosa. ( 26586712 )
2015
31
Long-term outcomes in adults with recessive dystrophic epidermolysis bullosa fed by a gastrostomy tube in situ. ( 26340599 )
2015
32
Update on the pathogenesis of squamous cell carcinoma development in recessive dystrophic epidermolysis bullosa. ( 26083672 )
2015
33
Recessive Dystrophic Epidermolysis Bullosa: Advances in the Laboratory Leading to New Therapies. ( 26066885 )
2015
34
A COL7A1 variant leading to in-frame skipping of exon 15 attenuates disease severity in recessive dystrophic epidermolysis bullosa. ( 26076072 )
2015
35
Transplanted bone marrow-derived circulating PDGFRI++ cells restore type VII collagen in recessive dystrophic epidermolysis bullosa mouse skin graft. ( 25601922 )
2015
36
Rescue of the Mucocutaneous Manifestations by Human Cord Blood Derived Non-Hematopoietic Stem Cells in a Mouse Model of Recessive Dystrophic Epidermolysis Bullosa. ( 25640200 )
2015
37
Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa. ( 26380979 )
2015
38
Purified type I collagen wound matrix improves chronic wound healing in patients with recessive dystrophic epidermolysis bullosa. ( 25557742 )
2015
39
Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa. ( 26148662 )
2015
40
Induced pluripotent stem cells for the treatment of recessive dystrophic epidermolysis bullosa. ( 26807404 )
2015
41
Recessive dystrophic epidermolysis bullosa: a review of disease pathogenesis and update on future therapies. ( 26029334 )
2015
42
Electrochemotherapy, a potential new treatment for the management of squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa: report of three cases. ( 25758658 )
2015
43
Evaluation of wound care options in patients with recessive dystrophic epidermolysis bullosa: a costly necessity. ( 24224977 )
2014
44
Surgical management with CO2 laser for pseudosyndactyly in recessive dystrophic epidermolysis bullosa. ( 25041083 )
2014
45
High levels of type VII collagen expression in recessive dystrophic epidermolysis bullosa cutaneous squamous cell carcinoma keratinocytes increases PI3K and MAPK signalling, cell migration and invasion. ( 24641191 )
2014
46
Genetically corrected iPSCs as cell therapy for recessive dystrophic epidermolysis bullosa. ( 25429058 )
2014
47
Human COL7A1-corrected induced pluripotent stem cells for the treatment of recessive dystrophic epidermolysis bullosa. ( 25429056 )
2014
48
Phase I/II ex vivo gene therapy clinical trial for recessive dystrophic epidermolysis bullosa using skin equivalent grafts genetically corrected with a COL7A1-encoding SIN retroviral vector (GENEGRAFT). ( 24933565 )
2014
49
An investigation into the MMP1 gene promoter region polymorphism--1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients. ( 24899116 )
2014
50
Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-I^ signalling in modifying disease severity. ( 24599399 )
2014

Variations for Recessive Dystrophic Epidermolysis Bullosa

ClinVar genetic disease variations for Recessive Dystrophic Epidermolysis Bullosa:

6 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1 COL7A1 NM_000094.3(COL7A1): c.8393T> A (p.Met2798Lys) single nucleotide variant Pathogenic rs121912828 GRCh37 Chromosome 3, 48603714: 48603714
2 COL7A1 COL7A1, 1-BP INS, 2470G insertion Pathogenic
3 COL7A1 COL7A1, 1-BP DEL, 3858G deletion Pathogenic
4 COL7A1 NM_000094.3(COL7A1): c.933C> A (p.Tyr311Ter) single nucleotide variant Pathogenic rs121912830 GRCh37 Chromosome 3, 48630046: 48630046
5 COL7A1 COL7A1, 1-BP DEL, 5818C deletion Pathogenic
6 COL7A1 COL7A1, IVS35DS, G-T, +1 single nucleotide variant Pathogenic
7 COL7A1 NM_000094.3(COL7A1): c.4783G> C (p.Gly1595Arg) single nucleotide variant Pathogenic rs121912840 GRCh37 Chromosome 3, 48618916: 48618916
8 COL7A1 COL7A1, 14-BP DEL, NT33563 deletion Pathogenic
9 COL7A1 NM_000094.3(COL7A1): c.6091G> A (p.Gly2031Ser) single nucleotide variant Pathogenic rs121912838 GRCh37 Chromosome 3, 48612861: 48612861
10 COL7A1 NM_000094.3(COL7A1): c.6859G> A (p.Gly2287Arg) single nucleotide variant Pathogenic rs121912839 GRCh37 Chromosome 3, 48610145: 48610145
11 COL7A1 NM_000094.3(COL7A1): c.6187C> T (p.Arg2063Trp) single nucleotide variant Pathogenic rs121912849 GRCh37 Chromosome 3, 48612669: 48612669
12 COL7A1 NM_000094.3(COL7A1): c.7957G> A (p.Gly2653Arg) single nucleotide variant Pathogenic rs121912851 GRCh37 Chromosome 3, 48605169: 48605169
13 COL7A1 NM_000094.3(COL7A1): c.7411C> T (p.Arg2471Ter) single nucleotide variant Pathogenic rs121912852 GRCh37 Chromosome 3, 48607737: 48607737
14 COL7A1 NM_000094.3(COL7A1): c.8245G> A (p.Gly2749Arg) single nucleotide variant Pathogenic rs121912853 GRCh37 Chromosome 3, 48604152: 48604152
15 COL7A1 NM_000094.3(COL7A1): c.706C> T (p.Arg236Ter) single nucleotide variant Pathogenic rs121912854 GRCh37 Chromosome 3, 48630348: 48630348
16 COL7A1 NM_000094.3(COL7A1): c.5443G> A (p.Gly1815Arg) single nucleotide variant Pathogenic rs121912841 GRCh38 Chromosome 3, 48578497: 48578497
17 COL7A1 NM_000094.3(COL7A1): c.8440C> T (p.Arg2814Ter) single nucleotide variant Pathogenic rs143457874 GRCh37 Chromosome 3, 48603069: 48603069
18 COL7A1 NM_000094.3(COL7A1): c.3971delT (p.Leu1324Glnfs) deletion Pathogenic rs886044621 GRCh37 Chromosome 3, 48622473: 48622473
19 COL7A1 NM_000094.3(COL7A1): c.6527dupC (p.Gly2177Trpfs) duplication Pathogenic rs768128088 GRCh37 Chromosome 3, 48611298: 48611298
20 COL7A1 NM_000094.3(COL7A1): c.8278G> A (p.Gly2760Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 48566686: 48566686
21 COL7A1 NM_000094.3(COL7A1): c.5924_5927delAACG (p.Glu1975Glyfs) deletion Pathogenic GRCh38 Chromosome 3, 48575678: 48575681
22 COL7A1 NM_000094.3(COL7A1): c.4871delC (p.Pro1624Glnfs) deletion Pathogenic GRCh38 Chromosome 3, 48581288: 48581288
23 COL7A1 NM_000094.3(COL7A1): c.2321_2322insCTGA (p.Glu774Aspfs) insertion Pathogenic GRCh38 Chromosome 3, 48588988: 48588989
24 COL7A1 NM_000094.3(COL7A1): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 48595159: 48595159

Expression for Recessive Dystrophic Epidermolysis Bullosa

Search GEO for disease gene expression data for Recessive Dystrophic Epidermolysis Bullosa.

Pathways for Recessive Dystrophic Epidermolysis Bullosa

Pathways related to Recessive Dystrophic Epidermolysis Bullosa according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.58 COL7A1 MMP1 PLOD3 TGFB1
2 11.21 MMP1 TGFB1
3 10.86 MMP1 TGFB1
4 10.19 MMP1 TGFB1

GO Terms for Recessive Dystrophic Epidermolysis Bullosa

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

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.13 COL7A1 MMP1 TGFB1
2 extracellular matrix GO:0031012 8.8 COL7A1 MMP1 TGFB1

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

id Name GO ID Score Top Affiliating Genes
1 response to wounding GO:0009611 9.37 ARG1 TGFB1
2 collagen catabolic process GO:0030574 9.32 COL7A1 MMP1
3 cellular response to transforming growth factor beta stimulus GO:0071560 9.26 ARG1 TGFB1
4 neural tube development GO:0021915 9.16 PLOD3 TGFB1
5 cellular response to dexamethasone stimulus GO:0071549 8.96 ARG1 TGFB1
6 negative regulation of blood vessel endothelial cell migration GO:0043537 8.62 HMGB1 TGFB1

Sources for Recessive Dystrophic Epidermolysis Bullosa

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
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42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
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54 OMIM
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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