MCID: RCS002
MIFTS: 54

Recessive Dystrophic Epidermolysis Bullosa

Categories: Cancer diseases, Rare diseases, Skin diseases

Aliases & Classifications for Recessive Dystrophic Epidermolysis Bullosa

MalaCards integrated aliases for Recessive Dystrophic Epidermolysis Bullosa:

Name: Recessive Dystrophic Epidermolysis Bullosa 12 53 29 6 15 38
Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type 12 53
Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis 12 53
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa 12 53
Rdeb, Hallopeau-Siemens Type 12 53
Severe Generalized Rdeb 12 53
Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized 53
Hallopeau-Siemens Disease 73
Rdeb Generalisata Gravis 53
Rdeb, Severe Generalized 53
Rdeb-Sev Gen 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0060642
ICD10 33 Q81.2
UMLS 73 C0079474

Summaries for Recessive Dystrophic Epidermolysis Bullosa

NIH Rare Diseases : 53 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.

MalaCards based summary : Recessive Dystrophic Epidermolysis Bullosa, also known as autosomal recessive dystrophic epidermolysis bullosa, hallopeau-siemens type, is related to epidermolysis bullosa dystrophica, autosomal recessive and epidermolysis bullosa dystrophica, and has symptoms including constipation and onychomadesis. An important gene associated with Recessive Dystrophic Epidermolysis Bullosa is COL7A1 (Collagen Type VII Alpha 1 Chain), and among its related pathways/superpathways are Apoptosis Modulation and Signaling and Gastric cancer. The drugs Imidacloprid and Gentamicins have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow, and related phenotypes are Decreased TP53 mRNA expression and integument

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 top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa dystrophica, autosomal recessive 34.1 COL7A1 MMP1
2 epidermolysis bullosa dystrophica 31.6 COL7A1 FLG MMP1
3 recessive dystrophic epidermolysis bullosa-generalized other 12.7
4 centripetalis recessive dystrophic epidermolysis bullosa 12.5
5 epidermolysis bullosa 11.5
6 epidermolysis bullosa dystrophica neurotrophica 11.4
7 squamous cell carcinoma 11.0
8 amyloidosis 10.5
9 chronic ulcer of skin 10.4
10 dilated cardiomyopathy 10.4
11 glomerulonephritis 10.4
12 iga glomerulonephritis 10.4
13 chronic actinic dermatitis 10.2 FLG MMP1
14 breast cancer 10.2
15 epidermolysis bullosa dystrophica, pretibial 10.2
16 marfan syndrome 10.2
17 osteoporosis 10.2
18 ichthyosis, x-linked 10.2
19 basal cell carcinoma 1 10.2
20 arteriovenous fistula 10.2
21 cataract 10.2
22 left ventricular noncompaction 10.2
23 nephrotic syndrome 10.2
24 ichthyosis 10.2
25 melanoma 10.2
26 dental caries 10.2
27 basal cell carcinoma 10.2
28 epidermolysis bullosa simplex 10.2
29 neuropathy 10.2
30 dwarfism 10.2
31 anti-p200 pemphigoid 10.2
32 fibromatosis, gingival, 1 10.2 MMP1 TGFB1
33 vulvar intraepithelial neoplasia 10.2 MMP1 TP53
34 epidermolysis bullosa pruriginosa 10.2 COL7A1 FLG MMP1
35 leukoregulin 10.1 JUN TGFB1
36 lymph node cancer 10.1 IGFBP3 TP53
37 marek disease 10.1 JUN TP53
38 filamentary keratitis 10.0 FLG KRT1
39 bowenoid papulosis 10.0 CDKN2A FLG
40 bladder squamous cell carcinoma 10.0 CDKN2A TP53
41 keratinizing squamous cell carcinoma 10.0 CDKN2A TP53
42 periosteal osteogenic sarcoma 10.0 JUN TP53
43 spitz nevus 10.0 CDKN2A TP53
44 bladder carcinoma in situ 10.0 CDKN2A TP53
45 vulva squamous cell carcinoma 10.0 CDKN2A TP53
46 scrotal carcinoma 10.0 CDKN2A TP53
47 vulvar disease 10.0 CDKN2A TP53
48 keloids 10.0 MMP1 TGFB1
49 nasal cavity adenocarcinoma 10.0 CDKN2A TP53
50 bartholin's gland disease 10.0 CDKN2A TP53

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

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased TP53 mRNA expression GR00389-S-5 8.62 JUN TP53

MGI Mouse Phenotypes related to Recessive Dystrophic Epidermolysis Bullosa:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.92 CDKN2A COL7A1 IGFBP3 JUN KRT1 PLOD3
2 liver/biliary system MP:0005370 9.73 ARG1 CDKN2A IGFBP3 JUN TGFB1 TP53
3 pigmentation MP:0001186 9.46 CDKN2A IGFBP3 KRT1 TP53
4 respiratory system MP:0005388 9.43 CDKN2A IGFBP3 JUN PLOD3 TGFB1 TP53
5 skeleton MP:0005390 9.17 CDKN2A COL7A1 IGFBP3 JUN PLOD3 TGFB1

Drugs & Therapeutics for Recessive Dystrophic Epidermolysis Bullosa

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

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

Interventional clinical trials:

(show all 22)
# 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 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa Patients With Nonsense Mutations Unknown status NCT03012191 Phase 1, Phase 2 Gentamicin Sulfate
3 Intravenous Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT03392909 Phase 1, Phase 2 Gentamicin
4 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)
5 A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT02810951 Phase 1, Phase 2
6 Topical QR-313 in Recessive Dystrophic Epidermolysis Bullosa (RDEB) Due to Mutation(s) in Exon 73 of the COL7A1gene Recruiting NCT03605069 Phase 1, Phase 2 QR-313;Placebo
7 Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT02323789 Phase 1, Phase 2 Mesenchymal stromal cells
8 Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT01263379 Phase 1, Phase 2
9 A Phase 1/2 Trial of PTR-01 in Adult Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Not yet recruiting NCT03752905 Phase 1, Phase 2 PTR-01;Normal saline
10 Allogeneic ABCB5-positive Stem Cells for Treatment of Epidermolysis Bullosa Not yet recruiting NCT03529877 Phase 1, Phase 2
11 Rigosertib for RDEB-SCC Not yet recruiting NCT03786237 Phase 1, Phase 2 Rigosertib Oral Capsules / Rigosertib Oral Liquid Solution / Rigosertib Intravenous
12 Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis Bullosa Completed NCT02493816 Phase 1 Gene-modified autologous fibroblasts
13 Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00014729 Phase 1 isotretinoin
14 Autologous Transplantation of Cultured Fibroblast on Amniotic Membrane in Patients With Epidermolysis Bullosa Completed NCT01908088 Phase 1
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 Not Applicable
19 Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa Recruiting NCT01019148
20 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients Enrolling by invitation NCT02698735 Not Applicable Gentamicin;Placebo
21 Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene Transfer Terminated NCT00533572
22 Allogeneic Hematopoietic Stem Cell Transplant For Epidermolysis Bullosa Terminated NCT00478244 Not Applicable busulfan;cyclophosphamide;fludarabine phosphate

Search NIH Clinical Center for Recessive Dystrophic Epidermolysis Bullosa

Genetic Tests for Recessive Dystrophic Epidermolysis Bullosa

Genetic tests related to Recessive Dystrophic Epidermolysis Bullosa:

# Genetic test Affiliating Genes
1 Recessive Dystrophic Epidermolysis Bullosa 29 COL7A1 MMP1

Anatomical Context for Recessive Dystrophic Epidermolysis Bullosa

MalaCards organs/tissues related to Recessive Dystrophic Epidermolysis Bullosa:

41
Skin, Bone, Bone Marrow, Testes, Lymph Node, Ovary, Pons

Publications for Recessive Dystrophic Epidermolysis Bullosa

Articles related to Recessive Dystrophic Epidermolysis Bullosa:

(show top 50) (show all 378)
# Title Authors Year
1
Utility of whole exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive Dystrophic Epidermolysis Bullosa in India - implications on diagnosis, prognosis and prenatal testing. ( 29512197 )
2018
2
Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico. ( 29473190 )
2018
3
Case report of two siblings with a novel homozygous mutation in COL7A1 leads to recessive dystrophic epidermolysis bullosa: which type? ( 29846190 )
2018
4
A multitask clustering approach for single-cell RNA-seq analysis in Recessive Dystrophic Epidermolysis Bullosa. ( 29630593 )
2018
5
Dilated Cardiomyopathy in a Child with Recessive Dystrophic Epidermolysis Bullosa. ( 29699768 )
2018
6
Efficacy of Human Placental-Derived Stem Cells in Collagen VII Knockout (Recessive Dystrophic Epidermolysis Bullosa) Animal Model. ( 29745997 )
2018
7
Five Novel <i>COL7A1</i> Gene Mutations in Three Chinese Patients with Recessive Dystrophic Epidermolysis Bullosa. ( 29531004 )
2018
8
Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial. ( 29500833 )
2018
9
First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru. ( 29427316 )
2018
10
Dual mechanism of type VII collagen transfer by bone marrow mesenchymal stem cell extracellular vesicles to recessive dystrophic epidermolysis bullosa fibroblasts. ( 29653141 )
2018
11
Endoscopic balloon dilation of oesophageal stenosis in a patient with recessive dystrophic epidermolysis bullosa. ( 29500068 )
2018
12
Translating the combination of gene therapy and tissue engineering for treating recessive dystrophic epidermolysis bullosa. ( 29441510 )
2018
13
Intradermal injection of bone marrow-MSC corrects Recessive Dystrophic Epidermolysis Bullosa in a xenograft model. ( 29758284 )
2018
14
Measurement of Skin Adhesion in Recessive Dystrophic Epidermolysis Bullosa Patients. ( 30081112 )
2018
15
Use of dermatoscopy in the detection of squamous cell carcinoma in a patient with recessive dystrophic epidermolysis bullosa. ( 30116669 )
2018
16
APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa. ( 30135250 )
2018
17
Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Using CRISPR/Cas9 and Homology-Directed Repair. ( 30195791 )
2018
18
Cord Blood-Derived Stem Cells Suppress Fibrosis and May Prevent Malignant Progression in Recessive Dystrophic Epidermolysis Bullosa. ( 30247783 )
2018
19
Wound Grafting for the Treatment of Recessive Dystrophic Epidermolysis Bullosa. ( 30413238 )
2018
20
Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency. ( 30463024 )
2018
21
Decorin counteracts disease progression in mice with recessive dystrophic epidermolysis bullosa. ( 30528862 )
2018
22
Inside out: regenerative medicine for recessive dystrophic epidermolysis bullosa. ( 29593249 )
2018
23
Reduced Microbial Diversity Is a Feature of Recessive Dystrophic Epidermolysis Bullosa-Involved Skin and Wounds. ( 29753707 )
2018
24
Establishment of integration-free induced pluripotent stem cells from human recessive dystrophic epidermolysis bullosa keratinocytes. ( 29229433 )
2017
25
Genetic Profiles of Squamous Cell Carcinomas Associated with Recessive Dystrophic Epidermolysis Bullosa Unveil NOTCH and TP53 Mutations and an Increased MYC Expression. ( 29291383 )
2017
26
Recessive dystrophic epidermolysis bullosa results in painful small fibre neuropathy. ( 28369282 )
2017
27
Inpatient management of children with recessive dystrophic epidermolysis bullosa: A review. ( 28944966 )
2017
28
Recessive Dystrophic Epidermolysis Bullosa and Pregnancy. ( 29203033 )
2017
29
Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients. ( 28691931 )
2017
30
Efficient in vivo gene editing using ribonucleoproteins in skin stem cells of recessive dystrophic epidermolysis bullosa mouse model. ( 28137859 )
2017
31
Oral manifestations as the main feature of late-onset recessive dystrophic epidermolysis bullosa. ( 29080321 )
2017
32
A case of recessive dystrophic epidermolysis bullosa with a novel c.6885_6898del14 mutation in the COL7A1 gene. ( 28427821 )
2017
33
Validity and Accuracy of a Mobile Phone Application for the Assessment of Wounds in Recessive Dystrophic Epidermolysis Bullosa. ( 29146128 )
2017
34
Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs. ( 28493971 )
2017
35
COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa. ( 28800953 )
2017
36
Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa. ( 28357176 )
2017
37
Pathomechanisms of Altered Wound Healing in Recessive Dystrophic Epidermolysis Bullosa. ( 28460207 )
2017
38
Rapid generation of Col7a1(-/-) mouse model of recessive dystrophic epidermolysis bullosa and partial rescue via immunosuppressive dermal mesenchymal stem cells. ( 28892093 )
2017
39
Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa. ( 28549954 )
2017
40
Canakinumab in recessive dystrophic epidermolysis bullosa: a novel unexpected weapon for non-healing wounds? ( 26885873 )
2016
41
A Non-Viral Gene Therapy for Treatment of Recessive Dystrophic Epidermolysis Bullosa. ( 27117059 )
2016
42
Correction of recessive dystrophic epidermolysis bullosa by transposon-mediated integration of COL7A1 in transplantable patient-derived primary keratinocytes. ( 28027893 )
2016
43
miR-29 Regulates Type VII Collagen in Recessive Dystrophic Epidermolysis Bullosa. ( 27328306 )
2016
44
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
45
Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa. ( 27754488 )
2016
46
Gene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes. ( 27045209 )
2016
47
A type VII collagen subdomain mutant is thermolabile and shows enhanced proteolytic degradability - implications for the pathogenesis of recessive dystrophic epidermolysis bullosa? ( 27989960 )
2016
48
Quality of Life and Economic Burden in Recessive Dystrophic Epidermolysis Bullosa. ( 26848213 )
2016
49
Maintenance Hemodialysis Using Native Arteriovenous Fistula in a Patient with Severe Generalized Recessive Dystrophic Epidermolysis Bullosa. ( 27722157 )
2016
50
Meganuclease-Mediated COL7A1 Gene Correction for Recessive Dystrophic Epidermolysis Bullosa. ( 26897595 )
2016

Variations for Recessive Dystrophic Epidermolysis Bullosa

ClinVar genetic disease variations for Recessive Dystrophic Epidermolysis Bullosa:

6 (show top 50) (show all 71)
# 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 NM_000094.3(COL7A1): c.8393T> A (p.Met2798Lys) single nucleotide variant Pathogenic rs121912828 GRCh38 Chromosome 3, 48566281: 48566281
3 COL7A1 COL7A1, 1-BP INS, 2470G insertion Pathogenic
4 COL7A1 COL7A1, 1-BP DEL, 3858G deletion Pathogenic
5 COL7A1 NM_000094.3(COL7A1): c.933C> A (p.Tyr311Ter) single nucleotide variant Pathogenic rs121912830 GRCh37 Chromosome 3, 48630046: 48630046
6 COL7A1 NM_000094.3(COL7A1): c.933C> A (p.Tyr311Ter) single nucleotide variant Pathogenic rs121912830 GRCh38 Chromosome 3, 48592613: 48592613
7 COL7A1 COL7A1, 1-BP DEL, 5818C deletion Pathogenic
8 COL7A1 COL7A1, IVS35DS, G-T, +1 single nucleotide variant Pathogenic
9 COL7A1 NM_000094.3(COL7A1): c.4783G> C (p.Gly1595Arg) single nucleotide variant Pathogenic rs121912840 GRCh37 Chromosome 3, 48618916: 48618916
10 COL7A1 NM_000094.3(COL7A1): c.4783G> C (p.Gly1595Arg) single nucleotide variant Pathogenic rs121912840 GRCh38 Chromosome 3, 48581483: 48581483
11 COL7A1 COL7A1, 14-BP DEL, NT33563 deletion Pathogenic
12 COL7A1 NM_000094.3(COL7A1): c.6091G> A (p.Gly2031Ser) single nucleotide variant Pathogenic rs121912838 GRCh37 Chromosome 3, 48612861: 48612861
13 COL7A1 NM_000094.3(COL7A1): c.6091G> A (p.Gly2031Ser) single nucleotide variant Pathogenic rs121912838 GRCh38 Chromosome 3, 48575428: 48575428
14 COL7A1 NM_000094.3(COL7A1): c.6859G> A (p.Gly2287Arg) single nucleotide variant Pathogenic rs121912839 GRCh37 Chromosome 3, 48610145: 48610145
15 COL7A1 NM_000094.3(COL7A1): c.6859G> A (p.Gly2287Arg) single nucleotide variant Pathogenic rs121912839 GRCh38 Chromosome 3, 48572712: 48572712
16 COL7A1 NM_000094.3(COL7A1): c.6187C> T (p.Arg2063Trp) single nucleotide variant Pathogenic rs121912849 GRCh37 Chromosome 3, 48612669: 48612669
17 COL7A1 NM_000094.3(COL7A1): c.6187C> T (p.Arg2063Trp) single nucleotide variant Pathogenic rs121912849 GRCh38 Chromosome 3, 48575236: 48575236
18 COL7A1 NM_000094.3(COL7A1): c.7957G> A (p.Gly2653Arg) single nucleotide variant Pathogenic rs121912851 GRCh37 Chromosome 3, 48605169: 48605169
19 COL7A1 NM_000094.3(COL7A1): c.7957G> A (p.Gly2653Arg) single nucleotide variant Pathogenic rs121912851 GRCh38 Chromosome 3, 48567736: 48567736
20 COL7A1 NM_000094.3(COL7A1): c.7411C> T (p.Arg2471Ter) single nucleotide variant Pathogenic rs121912852 GRCh37 Chromosome 3, 48607737: 48607737
21 COL7A1 NM_000094.3(COL7A1): c.7411C> T (p.Arg2471Ter) single nucleotide variant Pathogenic rs121912852 GRCh38 Chromosome 3, 48570304: 48570304
22 COL7A1 NM_000094.3(COL7A1): c.8245G> A (p.Gly2749Arg) single nucleotide variant Pathogenic rs121912853 GRCh37 Chromosome 3, 48604152: 48604152
23 COL7A1 NM_000094.3(COL7A1): c.8245G> A (p.Gly2749Arg) single nucleotide variant Pathogenic rs121912853 GRCh38 Chromosome 3, 48566719: 48566719
24 COL7A1 NM_000094.3(COL7A1): c.706C> T (p.Arg236Ter) single nucleotide variant Pathogenic rs121912854 GRCh37 Chromosome 3, 48630348: 48630348
25 COL7A1 NM_000094.3(COL7A1): c.706C> T (p.Arg236Ter) single nucleotide variant Pathogenic rs121912854 GRCh38 Chromosome 3, 48592915: 48592915
26 COL7A1 NM_000094.3(COL7A1): c.5443G> A (p.Gly1815Arg) single nucleotide variant Pathogenic rs121912841 GRCh38 Chromosome 3, 48578497: 48578497
27 COL7A1 NM_000094.3(COL7A1): c.5443G> A (p.Gly1815Arg) single nucleotide variant Pathogenic rs121912841 GRCh37 Chromosome 3, 48615930: 48615930
28 COL7A1 NM_000094.3(COL7A1): c.4980+1G> C single nucleotide variant Likely pathogenic rs730880285 GRCh38 Chromosome 3, 48580881: 48580881
29 COL7A1 NM_000094.3(COL7A1): c.4980+1G> C single nucleotide variant Likely pathogenic rs730880285 GRCh37 Chromosome 3, 48618314: 48618314
30 COL7A1 NM_000094.3(COL7A1): c.3504delC (p.Leu1169Terfs) deletion Likely pathogenic rs730880286 GRCh38 Chromosome 3, 48586378: 48586378
31 COL7A1 NM_000094.3(COL7A1): c.3504delC (p.Leu1169Terfs) deletion Likely pathogenic rs730880286 GRCh37 Chromosome 3, 48623811: 48623811
32 COL7A1 NM_000094.3(COL7A1): c.8371C> T (p.Arg2791Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs142566193 GRCh37 Chromosome 3, 48603736: 48603736
33 COL7A1 NM_000094.3(COL7A1): c.8371C> T (p.Arg2791Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs142566193 GRCh38 Chromosome 3, 48566303: 48566303
34 COL7A1 NM_000094.3(COL7A1): c.5000G> A (p.Gly1667Glu) single nucleotide variant Uncertain significance rs864321654 GRCh38 Chromosome 3, 48580633: 48580633
35 COL7A1 NM_000094.3(COL7A1): c.5000G> A (p.Gly1667Glu) single nucleotide variant Uncertain significance rs864321654 GRCh37 Chromosome 3, 48618066: 48618066
36 COL7A1 NM_000094.3(COL7A1): c.4118C> T (p.Ser1373Leu) single nucleotide variant Uncertain significance rs140403507 GRCh38 Chromosome 3, 48584486: 48584486
37 COL7A1 NM_000094.3(COL7A1): c.4118C> T (p.Ser1373Leu) single nucleotide variant Uncertain significance rs140403507 GRCh37 Chromosome 3, 48621919: 48621919
38 COL7A1 NM_000094.3(COL7A1): c.2969G> A (p.Arg990Gln) single nucleotide variant Uncertain significance rs568498471 GRCh37 Chromosome 3, 48624876: 48624876
39 COL7A1 NM_000094.3(COL7A1): c.2969G> A (p.Arg990Gln) single nucleotide variant Uncertain significance rs568498471 GRCh38 Chromosome 3, 48587443: 48587443
40 COL7A1 NM_000094.3(COL7A1): c.2392G> A (p.Gly798Arg) single nucleotide variant Uncertain significance rs202237834 GRCh37 Chromosome 3, 48626351: 48626351
41 COL7A1 NM_000094.3(COL7A1): c.2392G> A (p.Gly798Arg) single nucleotide variant Uncertain significance rs202237834 GRCh38 Chromosome 3, 48588918: 48588918
42 COL7A1 NM_000094.3(COL7A1): c.3830C> T (p.Pro1277Leu) single nucleotide variant Benign/Likely benign rs35761247 GRCh38 Chromosome 3, 48585691: 48585691
43 COL7A1 NM_000094.3(COL7A1): c.3830C> T (p.Pro1277Leu) single nucleotide variant Benign/Likely benign rs35761247 GRCh37 Chromosome 3, 48623124: 48623124
44 COL7A1 NM_000094.3(COL7A1): c.1784C> T (p.Pro595Leu) single nucleotide variant Benign rs2228561 GRCh38 Chromosome 3, 48590581: 48590581
45 COL7A1 NM_000094.3(COL7A1): c.1784C> T (p.Pro595Leu) single nucleotide variant Benign rs2228561 GRCh37 Chromosome 3, 48628014: 48628014
46 COL7A1 NM_000094.3(COL7A1): c.8440C> T (p.Arg2814Ter) single nucleotide variant Pathogenic rs143457874 GRCh37 Chromosome 3, 48603069: 48603069
47 COL7A1 NM_000094.3(COL7A1): c.8440C> T (p.Arg2814Ter) single nucleotide variant Pathogenic rs143457874 GRCh38 Chromosome 3, 48565636: 48565636
48 COL7A1 NM_000094.3(COL7A1): c.3971delT (p.Leu1324Glnfs) deletion Pathogenic rs886044621 GRCh37 Chromosome 3, 48622473: 48622473
49 COL7A1 NM_000094.3(COL7A1): c.3971delT (p.Leu1324Glnfs) deletion Pathogenic rs886044621 GRCh38 Chromosome 3, 48585040: 48585040
50 COL7A1 NM_000094.3(COL7A1): c.1732C> T (p.Arg578Ter) single nucleotide variant Pathogenic rs144023803 GRCh37 Chromosome 3, 48628154: 48628154

Cosmic variations for Recessive Dystrophic Epidermolysis Bullosa:

9 (show top 50) (show all 1098)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM3724309 ZNF536 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.1935G>C p.Q645H 19:30445497-30445497 3
2 COSM6976115 YES1 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.1288C>T p.Q430* 18:736811-736811 3
3 COSM6914703 XPO1 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.619C>G p.Q207E 2:61498885-61498885 3
4 COSM6957917 TSC2 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.1120A>T p.T374S 16:2061871-2061871 3
5 COSM121050 TP63 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.551C>T p.S184L 3:189808498-189808498 3
6 COSM10645 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.527G>T p.C176F 17:7675085-7675085 3
7 COSM69404 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.994-1G>A p.? 17:7670716-7670716 3
8 COSM43708 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.422G>A p.C141Y 17:7675190-7675190 3
9 COSM11073 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.1024C>T p.R342* 17:7670685-7670685 3
10 COSM43947 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.614A>G p.Y205C 17:7674917-7674917 3
11 COSM10660 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.818G>A p.R273H 17:7673802-7673802 3
12 COSM45607 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.676G>A p.G226S 17:7674287-7674287 3
13 COSM43592 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.395A>T p.K132M 17:7675217-7675217 3
14 COSM45794 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.421T>G p.C141G 17:7675191-7675191 3
15 COSM43850 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.659A>C p.Y220S 17:7674872-7674872 3
16 COSM43606 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.734G>A p.G245D 17:7674229-7674229 3
17 COSM10958 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.797G>T p.G266V 17:7673823-7673823 3
18 COSM44351 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.572C>T p.P191L 17:7674959-7674959 3
19 COSM10648 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.524G>A p.R175H 17:7675088-7675088 3
20 COSM11084 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.517G>A p.V173M 17:7675095-7675095 3
21 COSM43665 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.746G>C p.R249T 17:7674217-7674217 3
22 COSM10756 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.827C>T p.A276V 17:7673793-7673793 3
23 COSM10663 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.916C>T p.R306* 17:7673704-7673704 3
24 COSM10659 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.817C>T p.R273C 17:7673803-7673803 3
25 COSM45618 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.931A>C p.N311H 17:7673597-7673597 3
26 COSM43695 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.748C>T p.P250S 17:7674215-7674215 3
27 COSM44229 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.515T>A p.V172D 17:7675097-7675097 3
28 COSM10704 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.844C>T p.R282W 17:7673776-7673776 3
29 COSM44935 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.724T>A p.C242S 17:7674239-7674239 3
30 COSM10758 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.659A>G p.Y220C 17:7674872-7674872 3
31 COSM43714 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.836G>A p.G279E 17:7673784-7673784 3
32 COSM10646 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.725G>A p.C242Y 17:7674238-7674238 3
33 COSM43743 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.914A>G p.K305R 17:7673706-7673706 3
34 COSM10905 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.451C>T p.P151S 17:7675161-7675161 3
35 COSM10656 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.742C>T p.R248W 17:7674221-7674221 3
36 COSM10735 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.638G>A p.R213Q 17:7674893-7674893 3
37 COSM10662 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 3
38 COSM44823 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.981T>G p.Y327* 17:7673547-7673547 3
39 COSM43906 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.843C>A p.D281E 17:7673777-7673777 3
40 COSM10724 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.839G>C p.R280T 17:7673781-7673781 3
41 COSM43680 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.523C>T p.R175C 17:7675089-7675089 3
42 COSM43559 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.517G>T p.V173L 17:7675095-7675095 3
43 COSM10863 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.833C>T p.P278L 17:7673787-7673787 3
44 COSM43772 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.538G>A p.E180K 17:7675074-7675074 3
45 COSM44393 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.821T>C p.V274A 17:7673799-7673799 3
46 COSM10728 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.839G>A p.R280K 17:7673781-7673781 3
47 COSM11286 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.1015G>T p.E339* 17:7670694-7670694 3
48 COSM10808 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.488A>G p.Y163C 17:7675124-7675124 3
49 COSM44449 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.415A>G p.K139E 17:7675197-7675197 3
50 COSM10788 TP53 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.764T>G p.I255S 17:7674199-7674199 3

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:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.64 CDKN2A DAPK3 JUN TP53
2
Show member pathways
12.58 CDKN2A JUN TGFB1 TP53
3
Show member pathways
12.57 COL7A1 MMP1 PLOD3 TGFB1
4 12.52 CDKN2A DAPK3 JUN MMP1 TGFB1 TP53
5 12.22 CDKN2A JUN TGFB1 TP53
6
Show member pathways
12.05 CDKN2A JUN TGFB1
7 12.02 MMP1 TGFB1 TP53
8 11.97 JUN MMP1 TP53
9 11.91 CDKN2A IGFBP3 TGFB1 TP53
10 11.87 IGFBP3 JUN TP53
11 11.84 CDKN2A JUN TGFB1 TP53
12 11.81 ARG1 TGFB1 TP53
13 11.79 JUN MMP1 TGFB1 TP53
14 11.78 MMP1 TGFB1 TP53
15 11.67 JUN MMP1 TGFB1
16 11.61 JUN MMP1 TP53
17 11.47 CDKN2A JUN TGFB1 TP53
18 11.42 CDKN2A DAPK3 MMP1 TP53
19 11.41 CDKN2A HMGB1 JUN TGFB1 TP53
20 11.4 CDKN2A JUN TP53
21 11.36 CDKN2A JUN TP53
22 11.16 JUN MMP1 TGFB1 TP53
23 11.08 JUN TGFB1
24 11.05 CDKN2A IGFBP3 JUN TGFB1 TP53
25 10.94 CDKN2A TP53
26
Show member pathways
10.93 CDKN2A TP53
27 10.91 IGFBP3 MMP1
28 10.8 MMP1 TGFB1

GO Terms for Recessive Dystrophic Epidermolysis Bullosa

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.8 ARG1 COL7A1 HMGB1 IGFBP3 KRT1 MMP1
2 extracellular space GO:0005615 9.5 ARG1 COL7A1 HMGB1 IGFBP3 KRT1 PLOD3
3 extracellular matrix GO:0031012 9.46 COL7A1 KRT1 MMP1 TGFB1
4 collagen-containing extracellular matrix GO:0062023 8.92 COL7A1 FLG PLOD3 TGFB1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.71 ARG1 JUN TGFB1
2 cell cycle arrest GO:0007050 9.69 CDKN2A TGFB1 TP53
3 negative regulation of cell growth GO:0030308 9.65 CDKN2A TGFB1 TP53
4 regulation of apoptotic process GO:0042981 9.62 DAPK3 IGFBP3 TGFB1 TP53
5 positive regulation of cell cycle arrest GO:0071158 9.55 TGFB1 TP53
6 negative regulation of cell proliferation GO:0008285 9.55 CDKN2A IGFBP3 JUN TGFB1 TP53
7 establishment of skin barrier GO:0061436 9.52 FLG KRT1
8 regulation of actin cytoskeleton reorganization GO:2000249 9.49 DAPK3 TGFB1
9 positive regulation of protein oligomerization GO:0032461 9.46 MMP1 TP53
10 replicative senescence GO:0090399 9.43 CDKN2A TP53
11 Ras protein signal transduction GO:0007265 9.43 CDKN2A JUN TP53
12 chromatin assembly GO:0031497 9.4 HMGB1 TP53
13 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.37 TGFB1 TP53
14 positive regulation of apoptotic process GO:0043065 9.17 CDKN2A DAPK3 HMGB1 IGFBP3 JUN TGFB1
15 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.13 JUN TGFB1 TP53

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 ARG1 CDKN2A COL7A1 DAPK3 FLG HMGB1
2 structural constituent of epidermis GO:0030280 8.96 FLG KRT1
3 transcription factor binding GO:0008134 8.92 CDKN2A HMGB1 JUN TP53

Sources for Recessive Dystrophic Epidermolysis Bullosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
54 NINDS
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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