MCID: RCS002
MIFTS: 62

Recessive Dystrophic Epidermolysis Bullosa

Categories: Cancer diseases, Fetal diseases, Genetic 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 20 29 6 15 37
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa 12 20 6
Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type 12 20
Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis 12 20
Rdeb, Hallopeau-Siemens Type 12 20
Severe Generalized Rdeb 12 20
Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized 20
Hallopeau-Siemens Disease 70
Rdeb Generalisata Gravis 20
Rdeb, Severe Generalized 20
Rdeb-Sev Gen 20

Classifications:



Summaries for Recessive Dystrophic Epidermolysis Bullosa

GARD : 20 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 severe generalized recessive dystrophic epidermolysis bullosa, is related to epidermolysis bullosa dystrophica, autosomal recessive and epidermolysis bullosa, 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 Human cytomegalovirus infection and Endometrial cancer. The drugs Pregabalin and Psychotropic Drugs have been mentioned in the context of this disorder. Affiliated tissues include skin, bone marrow and bone, and related phenotypes are carious teeth and gastrointestinal inflammation

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 Recessive Dystrophic Epidermolysis Bullosa family:

Localized 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 206)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa dystrophica, autosomal recessive 33.5 MMP1 COL7A1
2 epidermolysis bullosa 32.7 MMP1 KRT1 IVL FLG COL7A1
3 epidermolysis bullosa dystrophica 32.3 PLOD3 MMP1 MIR711 KRT1 IVL FLG
4 skin disease 31.5 TP53 THBS1 MMP1 KRT1 IVL FLG
5 epidermolysis bullosa simplex 31.3 KRT1 IVL FLG COL7A1
6 lichen planus 30.7 TP53 KRT1 IVL FLG
7 keratosis 30.6 TP53 KRT1 IVL FLG CDKN2A
8 basal cell carcinoma 30.6 TP53 MMP1 KRT1 IVL CDKN2A
9 skin carcinoma 30.5 TP53 THBS1 MYC MMP1 KRT1 IVL
10 recessive dystrophic epidermolysis bullosa-generalized other 12.0
11 autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form 11.5
12 epidermolysis bullosa dystrophica neurotrophica 11.4
13 squamous cell carcinoma 10.9
14 erythrokeratoderma ''en cocardes'' 10.8
15 chronic ulcer of skin 10.7
16 verruciform xanthoma of skin 10.6
17 dysphagia 10.6
18 amyloidosis 10.6
19 dental caries 10.5
20 ankyloglossia with or without tooth anomalies 10.5
21 pemphigoid 10.5
22 glomerulonephritis 10.5
23 severe combined immunodeficiency 10.5
24 inherited epidermolysis bullosa 10.5
25 anal carcinoma in situ 10.5 TP53 MYC
26 hyperpigmentation of the skin 10.5 TP53 COL7A1
27 clear cell acanthoma 10.4 IVL FLG
28 vulvar intraepithelial neoplasia 10.4 TP53 CDKN2A
29 bowenoid papulosis 10.4 FLG CDKN2A
30 esophagus verrucous carcinoma 10.4 TP53 CDKN2A
31 epidermolysis bullosa pruriginosa 10.4 MMP1 FLG COL7A1
32 vulva basal cell carcinoma 10.4 MYC CDKN2A
33 frontal lobe neoplasm 10.4 TP53 MYC
34 primary cutaneous diffuse large b-cell lymphoma, leg type 10.4 MYC CDKN2A
35 ovarian seromucinous carcinoma 10.4 TP53 CDKN2A
36 b cell prolymphocytic leukemia 10.4 TP53 MYC
37 atrial standstill 1 10.4
38 chromosome 2q35 duplication syndrome 10.4
39 iga glomerulonephritis 10.4
40 end stage renal disease 10.4
41 bullous pemphigoid 10.4
42 rare genetic skin disease 10.4
43 stomach carcinoma in situ 10.4 IVL FLG
44 chronic actinic dermatitis 10.4 MMP1 FLG FBN1
45 spitz nevus 10.4 TP53 CDKN2A
46 human papillomavirus infectious disease 10.4 TP53 FLG CDKN2A
47 ichthyosis, congenital, autosomal recessive 4b 10.4 KRT1 IVL FLG
48 pelvic organ prolapse 10.4 TP53 MMP1 FBN1
49 scleredema adultorum 10.4 MMP1 FBN1
50 skin papilloma 10.4 TP53 MYC KRT1

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:

31 (show all 45)
# Description HPO Frequency HPO Source Accession
1 carious teeth 31 hallmark (90%) HP:0000670
2 gastrointestinal inflammation 31 hallmark (90%) HP:0004386
3 milia 31 hallmark (90%) HP:0001056
4 fragile skin 31 hallmark (90%) HP:0001030
5 atrophic scars 31 hallmark (90%) HP:0001075
6 oral mucosal blisters 31 hallmark (90%) HP:0200097
7 mitten deformity 31 hallmark (90%) HP:0004057
8 chronic pain 31 hallmark (90%) HP:0012532
9 depressivity 31 frequent (33%) HP:0000716
10 anxiety 31 frequent (33%) HP:0000739
11 nail dystrophy 31 frequent (33%) HP:0008404
12 squamous cell carcinoma 31 frequent (33%) HP:0002860
13 anonychia 31 frequent (33%) HP:0001798
14 erosion of oral mucosa 31 frequent (33%) HP:0031446
15 iron deficiency anemia 31 frequent (33%) HP:0001891
16 chronic cutaneous wound 31 frequent (33%) HP:0032676
17 abnormal scalp morphology 31 frequent (33%) HP:0001965
18 dysphagia 31 occasional (7.5%) HP:0002015
19 osteopenia 31 occasional (7.5%) HP:0000938
20 gastroesophageal reflux 31 occasional (7.5%) HP:0002020
21 delayed puberty 31 occasional (7.5%) HP:0000823
22 osteoporosis 31 occasional (7.5%) HP:0000939
23 dilated cardiomyopathy 31 occasional (7.5%) HP:0001644
24 narrow mouth 31 occasional (7.5%) HP:0000160
25 low levels of vitamin d 31 occasional (7.5%) HP:0100512
26 corneal erosion 31 occasional (7.5%) HP:0200020
27 cutaneous melanoma 31 occasional (7.5%) HP:0012056
28 visual loss 31 occasional (7.5%) HP:0000572
29 chronic kidney disease 31 occasional (7.5%) HP:0012622
30 aplasia cutis congenita 31 occasional (7.5%) HP:0001057
31 ankyloglossia 31 occasional (7.5%) HP:0010296
32 recurrent skin infections 31 occasional (7.5%) HP:0001581
33 urethral stricture 31 occasional (7.5%) HP:0012227
34 renal amyloidosis 31 occasional (7.5%) HP:0001917
35 urinary bladder sphincter dysfunction 31 occasional (7.5%) HP:0002839
36 glomerulonephritis 31 occasional (7.5%) HP:0000099
37 malnutrition 31 occasional (7.5%) HP:0004395
38 esophageal ulceration 31 occasional (7.5%) HP:0004791
39 decreased plasma total carnitine 31 occasional (7.5%) HP:0011936
40 joint contractures involving the joints of the feet 31 occasional (7.5%) HP:0100492
41 iga deposition in the glomerulus 31 occasional (7.5%) HP:0000794
42 abnormal circulating selenium concentration 31 occasional (7.5%) HP:0031903
43 decreased serum zinc 31 occasional (7.5%) HP:0031831
44 anal fissure 31 occasional (7.5%) HP:0012390
45 genital blistering 31 very rare (1%) HP:0031464

UMLS symptoms related to Recessive Dystrophic Epidermolysis Bullosa:


constipation; onychomadesis

MGI Mouse Phenotypes related to Recessive Dystrophic Epidermolysis Bullosa:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 10.1 APOBEC3B ARG1 CDKN2A COL7A1 FBN1 KRT1
2 digestive/alimentary MP:0005381 9.97 CDKN2A COL7A1 MYC PLOD3 RXRA TGFB1
3 integument MP:0010771 9.96 CDKN2A COL7A1 FBN1 KRT1 MYC PLOD3
4 muscle MP:0005369 9.76 CDKN2A FBN1 MYC PLOD3 RXRA TGFB1
5 neoplasm MP:0002006 9.56 APOBEC3B CDKN2A MMP1 MYC RXRA TGFB1
6 pigmentation MP:0001186 9.1 CDKN2A FBN1 KRT1 MYC RXRA TP53

Drugs & Therapeutics for Recessive Dystrophic Epidermolysis Bullosa

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

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pregabalin Approved, Investigational Phase 3 148553-50-8 5486971
2 Psychotropic Drugs Phase 3
3 Anticonvulsants Phase 3
4 Analgesics Phase 3
5 Anti-Anxiety Agents Phase 3
6 calcium channel blockers Phase 3
7 Hormones Phase 3
8 Calcium, Dietary Phase 3
9
Calcium Nutraceutical Phase 3 7440-70-2 271
10
Imidacloprid Vet_approved Phase 1, Phase 2 105827-78-9 86418
11 Mitogens Phase 1, Phase 2
12 Pharmaceutical Solutions Phase 1, Phase 2
13 Gentamicins Phase 1, Phase 2
14 Anti-Infective Agents Phase 1, Phase 2
15 ON 01910 Phase 1, Phase 2
16 Protein Kinase Inhibitors Phase 1, Phase 2
17 Anti-Bacterial Agents Phase 1, Phase 2
18 Antibiotics, Antitubercular Phase 1, Phase 2
19 Anesthetics Phase 1, Phase 2
20 Anesthetics, General Phase 1, Phase 2
21 Anti-Inflammatory Agents Phase 1, Phase 2
22
Isotretinoin Approved Phase 1 4759-48-2 5282379 5538
23 Dermatologic Agents Phase 1
24
Fludarabine Approved Early Phase 1 21679-14-1, 75607-67-9 30751
25
alemtuzumab Approved, Investigational Early Phase 1 216503-57-0
26
Busulfan Approved, Investigational Early Phase 1 55-98-1 2478
27
Lorazepam Approved Early Phase 1 846-49-1 3958
28
Tacrolimus Approved, Investigational Early Phase 1 104987-11-3 6473866 445643 439492
29
Heparin Approved, Investigational 9005-49-6 772 9812414
30
Pentetic acid Approved 67-43-6
31
Edetic Acid Approved, Vet_approved 62-33-9, 60-00-4 6049
32
Petrolatum Approved, Investigational 8009-03-8
33 Antibodies
34 Immunoglobulins
35 calcium heparin
36 Autoantibodies

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 A Comparative Study of the Healing of Chronic Skin Ulcers of Recessive Dystrophic Epidermolysis Bullosa : Standard Dressing Versus Amniotic Membrane. Unknown status NCT02286427 Phase 3
2 A Pivotal Phase 3 Study of FCX-007 (Genetically-Modified Autologous Human Dermal Fibroblasts) for Recessive Dystrophic Epidermolysis Bullosa Recruiting NCT04213261 Phase 3
3 A Double-blind, Randomized, Cross-over, Feasibility Trial of Pregabalin for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-associated Neuropathic Pain and Itch Recruiting NCT03928093 Phase 3 Pregabalin
4 VIITAL: A Phase 3 Study of EB-101 for the Treatment of Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT04227106 Phase 3
5 A Phase I/II Study Evaluating Allogeneic Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis Bullosa Unknown status NCT02323789 Phase 1, Phase 2 Mesenchymal stromal cells
6 Safety Study and Preliminary Efficacy of Infusion Haploidentical Mesenchymal Stem Cells Derived From Bone Marrow for Treating Recessive Dystrophic Epidermolysis Bullosa Unknown status NCT04153630 Phase 1, Phase 2
7 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa Patients With Nonsense Mutations Completed NCT03012191 Phase 1, Phase 2 Gentamicin Sulfate
8 A Phase 1/2 Randomized, Saline-Controlled, Single-Blind, Multiple Ascending Dose, Dose-Escalation, Multi-Center Trial of PTR-01 in Adult Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Completed NCT03752905 Phase 1, Phase 2 PTR-01;Normal saline
9 Single Center, Single Group Assignment, Open Label Trial to Assess Safety and Effectiveness of Intravenous Allogeneic Umbilical Cord Blood-derived Mesenchymal Stem Cell in Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT04520022 Phase 1, Phase 2 Human Umbilical Cord Blood-derived Mesenchymal Stem Cells
10 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients Completed NCT02698735 Phase 1, Phase 2 Gentamicin;Placebo
11 Restoration of Full-Length Type VII Collagen in RDEB Patients With Nonsense Mutations After Intravenous Gentamicin Treatment Recruiting NCT03392909 Phase 1, Phase 2 Gentamicin
12 A Phase II, Open Study to Assess Efficacy and Safety of Rigosertib in Patients With Recessive Dystrophic Epidermolysis Bullosa Associated Locally Advanced/Metastatic Squamous Cell Carcinoma Recruiting NCT03786237 Phase 1, Phase 2 Rigosertib Oral Capsules / Rigosertib Intravenous
13 An Interventional, Multicenter, Single Arm, Phase I/IIa Clinical Trial to Investigate the Efficacy and Safety of Allo-APZ2-EB on Epidermolysis Bullosa (EB) Active, not recruiting NCT03529877 Phase 1, Phase 2
14 Prospective, Open-label, Uncontrolled Clinical Trial to Assess the Safety and Efficacy of Autologous Cultured Epidermal Grafts Containing Epidermal Stem Cells Genetically Modified With a Gamma-retroviral (rv) Vector Carrying COL7A1 cDNA for Restoration of Epidermis in Patients With Recessive Dystrophic Epidermolysis Bullosa. Active, not recruiting NCT02984085 Phase 1, Phase 2 Genetically corrected cultured epidermal autograft (ATMP)
15 A Phase 2 Open-Label Study of PTR-01 in Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Active, not recruiting NCT04599881 Phase 2 PTR-01
16 A Phase I/II Study of FCX-007 (Genetically-Modified Autologous Human Dermal Fibroblasts) for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Active, not recruiting NCT02810951 Phase 1, Phase 2
17 A Phase 1/2A Single Center Trial of Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Using the Drug LZRSE-Col7A1 Engineered Autologous Epidermal Sheets (LEAES) Active, not recruiting NCT01263379 Phase 1, Phase 2
18 Phase I Study of Lentiviral-mediated COL7A1 Gene-modified Autologous Fibroblasts in Adults With Recessive Dystrophic Epidermolysis Bullosa. Completed NCT02493816 Phase 1 Gene-modified autologous fibroblasts
19 Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00014729 Phase 1 isotretinoin
20 A Pilot Study of Reduced Intensity Conditioning (RIC) and Allogeneic Stem Cell Transplantation (ALLOSCT) In Children With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT00881556 Early Phase 1 Reduced Intensity Transplant conditioning
21 Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT01874769
22 Characteristics of Adult Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00904163
23 Treatment of Chronic and Non-Chronic Wounds in Patients With Recessive Dystrophic Epidermolysis Bullosa Using Helicoll Collagen Dressings Versus Standard of Care Completed NCT01716169
24 Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa Recruiting NCT01019148
25 Molecular Signatures of Cutaneous Squamous Cell Carcinoma During Recessive Dystrophic Epidermolysis Bullosa Not yet recruiting NCT04285294
26 A Pilot, Open Study to Assess Efficacy and Safety of Rigosertib in Patients With Recessive Dystrophic Epidermolysis Bullosa Associated Locally Advanced/Metastatic Squamous Cell Carcinoma Not yet recruiting NCT04177498 Early Phase 1 Rigosertib Sodium
27 Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene Transfer Terminated NCT00533572

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:

40
Skin, Bone Marrow, Bone, Kidney, Lymph Node, Breast, Ovary

Publications for Recessive Dystrophic Epidermolysis Bullosa

Articles related to Recessive Dystrophic Epidermolysis Bullosa:

(show top 50) (show all 742)
# Title Authors PMID Year
1
First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru. 6 61
29427316 2018
2
Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico. 6 61
29473190 2018
3
Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB. 61 6
26763448 2016
4
Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa. 6 61
25155989 2014
5
Impact of next generation sequencing on diagnostics in a genetic skin disease clinic. 61 6
24279917 2013
6
Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial. 61 6
24032424 2013
7
HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa. 6 61
21471992 2011
8
Revertant mosaicism in recessive dystrophic epidermolysis bullosa. 6 61
20357813 2010
9
Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations. 61 6
19665875 2009
10
Cetuximab therapy of metastasizing cutaneous squamous cell carcinoma in a patient with severe recessive dystrophic epidermolysis bullosa. 61 6
19439919 2009
11
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. 61 6
18558993 2008
12
A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa. 61 6
18030675 2008
13
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. 6 61
17495952 2007
14
Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense. 61 6
15816848 2005
15
Dystrophic epidermolysis bullosa complicated by cutaneous squamous cell carcinoma and pulmonary and renal amyloidosis. 61 6
12653705 2003
16
A novel insertion mutation in COL7A1 identified in Hallopeau-Siemens recessive dystrophic epidermolysis bullosa. 6 61
12735646 2003
17
A -96C-->T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa. 61 6
10980546 2000
18
Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. 61 6
10504458 1999
19
Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa. 61 6
9804332 1998
20
Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation. 6 61
9326325 1997
21
Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa. 61 6
9242516 1997
22
Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa. 6 61
9042157 1997
23
Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa. 6 61
8755915 1996
24
A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa. 6 61
8618004 1996
25
Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1). 6 61
8900535 1996
26
Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa. 6 61
7883979 1995
27
A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa. 6 61
7833933 1994
28
Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa. 6 61
8037207 1994
29
Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa. 61 6
8088783 1994
30
A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. 6 61
8513326 1993
31
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. 6
29130490 2017
32
Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages. 6
27899325 2017
33
Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases. 6
27544590 2016
34
A novel mutation in the COL7A1 gene results in a unique phenotype of epidermolysis bullosa pruriginosa. 6
25556825 2016
35
Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family. 6
26102279 2015
36
Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa. 6
25913354 2015
37
Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory. 6
24947307 2015
38
Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa. 6
24577406 2014
39
Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study. 6
24252097 2014
40
Genotype-oropharyngeal phenotype correlation in Mexican patients with dystrophic epidermolysis bullosa. 6
24210835 2014
41
Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa. 6
22209565 2012
42
Novel and recurrent COL7A1 mutation in a Polish population. 6
22266148 2012
43
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa. 6
21448560 2011
44
Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. 6
20598510 2010
45
The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation. 6
20184583 2010
46
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. 6
20108428 2010
47
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. 6
20108398 2010
48
Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort. 6
19681861 2009
49
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. 6
19694003 2009
50
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. 6
19694005 2009

Variations for Recessive Dystrophic Epidermolysis Bullosa

ClinVar genetic disease variations for Recessive Dystrophic Epidermolysis Bullosa:

6 (show top 50) (show all 489)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL7A1 NM_000094.3(COL7A1):c.8393T>A (p.Met2798Lys) SNV Pathogenic 17423 rs121912828 GRCh37: 3:48603714-48603714
GRCh38: 3:48566281-48566281
2 COL7A1 NM_000094.3(COL7A1):c.2471dup (p.Asn825fs) Duplication Pathogenic 17425 rs746056280 GRCh37: 3:48626190-48626191
GRCh38: 3:48588757-48588758
3 COL7A1 NM_000094.3(COL7A1):c.3861del (p.Pro1289fs) Deletion Pathogenic 17426 rs1575470363 GRCh37: 3:48623023-48623023
GRCh38: 3:48585590-48585590
4 COL7A1 NM_000094.3(COL7A1):c.933C>A (p.Tyr311Ter) SNV Pathogenic 17427 rs121912830 GRCh37: 3:48630046-48630046
GRCh38: 3:48592613-48592613
5 COL7A1 NM_000094.3(COL7A1):c.5819del (p.Pro1940fs) Deletion Pathogenic 17428 rs1575442301 GRCh37: 3:48613683-48613683
GRCh38: 3:48576250-48576250
6 COL7A1 NM_000094.3(COL7A1):c.4119+1G>T SNV Pathogenic 17435 rs1575467199 GRCh37: 3:48621917-48621917
GRCh38: 3:48584484-48584484
7 COL7A1 NM_000094.3(COL7A1):c.4783G>C (p.Gly1595Arg) SNV Pathogenic 17443 rs121912840 GRCh37: 3:48618916-48618916
GRCh38: 3:48581483-48581483
8 COL7A1 COL7A1, 14-BP DEL, NT33563 Deletion Pathogenic 17445 GRCh37:
GRCh38:
9 COL7A1 NM_000094.3(COL7A1):c.7957G>A (p.Gly2653Arg) SNV Pathogenic 17458 rs121912851 GRCh37: 3:48605169-48605169
GRCh38: 3:48567736-48567736
10 COL7A1 NM_000094.3(COL7A1):c.8245G>A (p.Gly2749Arg) SNV Pathogenic 17460 rs121912853 GRCh37: 3:48604152-48604152
GRCh38: 3:48566719-48566719
11 COL7A1 NM_000094.3(COL7A1):c.5443G>A (p.Gly1815Arg) SNV Pathogenic 156289 rs121912841 GRCh37: 3:48615930-48615930
GRCh38: 3:48578497-48578497
12 COL7A1 NM_000094.3(COL7A1):c.4871del (p.Pro1624fs) Deletion Pathogenic 424629 rs1064797082 GRCh37: 3:48618721-48618721
GRCh38: 3:48581288-48581288
13 COL7A1 NM_000094.3(COL7A1):c.5924_5927del (p.Glu1975fs) Deletion Pathogenic 424627 rs1064797080 GRCh37: 3:48613111-48613114
GRCh38: 3:48575678-48575681
14 COL7A1 NM_000094.3(COL7A1):c.8278G>A (p.Gly2760Arg) SNV Pathogenic 424628 rs1064797081 GRCh37: 3:48604119-48604119
GRCh38: 3:48566686-48566686
15 COL7A1 NM_000094.3(COL7A1):c.2318_2321dup (p.Glu774delinsAspTer) Duplication Pathogenic 424626 rs1064797079 GRCh37: 3:48626421-48626422
GRCh38: 3:48588988-48588989
16 COL7A1 NM_000094.3(COL7A1):c.2989C>T (p.Gln997Ter) SNV Pathogenic 623379 rs1559423385 GRCh37: 3:48624856-48624856
GRCh38: 3:48587423-48587423
17 COL7A1 NM_000094.3(COL7A1):c.1319del (p.Glu440fs) Deletion Pathogenic 634903 rs1559435706 GRCh37: 3:48629369-48629369
GRCh38: 3:48591936-48591936
18 COL7A1 NC_000003.12:g.48589471del Deletion Pathogenic 801966 rs1336602322 GRCh37: 3:48626903-48626903
GRCh38: 3:48589470-48589470
19 COL7A1 NM_000094.3(COL7A1):c.657del (p.Gly220fs) Deletion Pathogenic 801967 rs1575494051 GRCh37: 3:48630560-48630560
GRCh38: 3:48593127-48593127
20 COL7A1 NM_000094.3(COL7A1):c.6044G>A (p.Gly2015Glu) SNV Pathogenic 17449 rs121912843 GRCh37: 3:48612908-48612908
GRCh38: 3:48575475-48575475
21 COL7A1 NM_000094.3(COL7A1):c.5797C>T (p.Arg1933Ter) SNV Pathogenic 345830 rs757415879 GRCh37: 3:48613705-48613705
GRCh38: 3:48576272-48576272
22 COL7A1 NM_000094.3(COL7A1):c.3376_3386del (p.Tyr1126fs) Deletion Pathogenic 689616 rs765699235 GRCh37: 3:48624013-48624023
GRCh38: 3:48586580-48586590
23 COL7A1 NM_000094.3(COL7A1):c.4233del (p.Gly1412fs) Deletion Pathogenic 587424 rs1560241522 GRCh37: 3:48621378-48621378
GRCh38: 3:48583945-48583945
24 COL7A1 NM_000094.4(COL7A1):c.84A>G SNV Pathogenic 590762 rs1559444716 GRCh37: 3:48632509-48632509
GRCh38: 3:48595076-48595076
25 COL7A1 NM_000094.4(COL7A1):c.58_70del (p.Arg20fs) Deletion Pathogenic 1047934 GRCh37: 3:48632523-48632535
GRCh38: 3:48595090-48595102
26 COL7A1 NM_000094.4(COL7A1):c.5440C>T (p.Arg1814Cys) SNV Pathogenic 1047935 GRCh37: 3:48615933-48615933
GRCh38: 3:48578500-48578500
27 COL7A1 NM_000094.4(COL7A1):c.5449C>T (p.Gln1817Ter) SNV Pathogenic 1047936 GRCh37: 3:48615924-48615924
GRCh38: 3:48578491-48578491
28 COL7A1 NM_000094.4(COL7A1):c.5499C>T SNV Pathogenic 372340 rs758886532 GRCh37: 3:48615787-48615787
GRCh38: 3:48578354-48578354
29 COL7A1 NM_000094.4(COL7A1):c.5532+1G>T SNV Pathogenic 1047937 GRCh37: 3:48615753-48615753
GRCh38: 3:48578320-48578320
30 COL7A1 NM_000094.4(COL7A1):c.5532+6T>C SNV Pathogenic 1047938 GRCh37: 3:48615748-48615748
GRCh38: 3:48578315-48578315
31 COL7A1 NM_000094.4(COL7A1):c.5569-11_5569-3del Deletion Pathogenic 1047939 GRCh37: 3:48614355-48614363
GRCh38: 3:48576922-48576930
32 COL7A1 NM_000094.4(COL7A1):c.5576_5577del (p.Lys1859fs) Deletion Pathogenic 1047940 GRCh37: 3:48614344-48614345
GRCh38: 3:48576911-48576912
33 COL7A1 NM_000094.4(COL7A1):c.5755G>A (p.Gly1919Arg) SNV Pathogenic 1047941 GRCh37: 3:48613850-48613850
GRCh38: 3:48576417-48576417
34 COL7A1 NM_000094.4(COL7A1):c.5771A>G (p.Gln1924Arg) SNV Pathogenic 1047942 GRCh37: 3:48613834-48613834
GRCh38: 3:48576401-48576401
35 COL7A1 NM_000094.4(COL7A1):c.5892_5905del (p.Asp1964fs) Deletion Pathogenic 1047943 GRCh37: 3:48613133-48613146
GRCh38: 3:48575700-48575713
36 COL7A1 NM_000094.4(COL7A1):c.5932C>T SNV Pathogenic 449469 rs1368134215 GRCh37: 3:48613106-48613106
GRCh38: 3:48575673-48575673
37 COL7A1 NM_000094.4(COL7A1):c.5944_5945delinsTA (p.Gly1982Ter) Indel Pathogenic 1047944 GRCh37: 3:48613093-48613094
GRCh38: 3:48575660-48575661
38 COL7A1 NM_000094.4(COL7A1):c.6034G>A (p.Gly2012Ser) SNV Pathogenic 1047945 GRCh37: 3:48612918-48612918
GRCh38: 3:48575485-48575485
39 COL7A1 NM_000094.4(COL7A1):c.6041_6042del (p.Gln2014fs) Deletion Pathogenic 1047946 GRCh37: 3:48612910-48612911
GRCh38: 3:48575477-48575478
40 COL7A1 NM_000094.4(COL7A1):c.126dup (p.Leu43fs) Duplication Pathogenic 1048106 GRCh37: 3:48631940-48631941
GRCh38: 3:48594507-48594508
41 COL7A1 NM_000094.4(COL7A1):c.977-33A>C SNV Pathogenic 1048107 GRCh37: 3:48629933-48629933
GRCh38: 3:48592500-48592500
42 COL7A1 NM_000094.4(COL7A1):c.976+50_977-39del Deletion Pathogenic 1048108 GRCh37: 3:48629939-48629953
GRCh38: 3:48592506-48592520
43 COL7A1 NM_000094.4(COL7A1):c.2722_2723del (p.Gln908fs) Deletion Pathogenic 1048109 GRCh37: 3:48625360-48625361
GRCh38: 3:48587927-48587928
44 COL7A1 NM_000094.4(COL7A1):c.2984dup (p.Gly996fs) Duplication Pathogenic 1048110 GRCh37: 3:48624860-48624861
GRCh38: 3:48587427-48587428
45 COL7A1 NM_000094.4(COL7A1):c.4550_4554del (p.Ala1517fs) Deletion Pathogenic 1048111 GRCh37: 3:48620051-48620055
GRCh38: 3:48582618-48582622
46 COL7A1 NM_000094.4(COL7A1):c.5017_5018del (p.Gly1673fs) Deletion Pathogenic 1048112 GRCh37: 3:48618048-48618049
GRCh38: 3:48580615-48580616
47 COL7A1 NM_000094.4(COL7A1):c.5561_5565del (p.Gly1854fs) Deletion Pathogenic 1048113 GRCh37: 3:48614428-48614432
GRCh38: 3:48576995-48576999
48 COL7A1 NM_000094.4(COL7A1):c.6527dupC Duplication Pathogenic 372345 rs768128088 GRCh37: 3:48611297-48611298
GRCh38: 3:48573864-48573865
49 COL7A1 NM_000094.4(COL7A1):c.7929+2T>C SNV Pathogenic 1048059 GRCh37: 3:48605269-48605269
GRCh38: 3:48567836-48567836
50 COL7A1 NM_000094.4(COL7A1):c.7885G>C (p.Gly2629Arg) SNV Pathogenic 1048058 GRCh37: 3:48605315-48605315
GRCh38: 3:48567882-48567882

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 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.81 TP53 MYC CDKN2A APOBEC3H APOBEC3B APOBEC3A
2
Show member pathways
12.77 TP53 TGFB1 RXRA MYC CDKN2A
3
Show member pathways
12.66 TP53 TGFB1 RXRA MYC CDKN2A
4 12.64 TP53 TGFB1 RXRA MYC MMP1 DAPK3
5
Show member pathways
12.35 THBS1 TGFB1 PLOD3 MMP1 MIR711 FBN1
6
Show member pathways
12.28 TP53 THBS1 MYC CDKN2A
7 12.26 TP53 TGFB1 MYC CDKN2A
8 12.23 TP53 TGFB1 MYC CDKN2A
9 12.19 TP53 THBS1 TGFB1 MYC
10 12.09 TP53 TGFB1 MYC MMP1
11 12.04 TP53 TGFB1 MYC CDKN2A
12 11.9 TP53 TGFB1 MYC ARG1
13 11.87 TP53 TGFB1 MYC MMP1
14 11.8 TP53 THBS1 TGFB1 CDKN2A
15 11.78 TP53 THBS1 TGFB1 MYC MMP1
16 11.77 TGFB1 KRT1 IVL
17 11.76 TP53 RXRA MYC
18 11.73 TP53 MYC HMGB1
19 11.73 THBS1 TGFB1 MYC FBN1
20 11.41 TP53 TGFB1 MYC HMGB1 CDKN2A
21 11.4 TP53 MYC MMP1
22 11.33 TP53 TGFB1 MYC MMP1
23
Show member pathways
11.13 APOBEC3H APOBEC3B APOBEC3A
24 10.96 TP53 THBS1 MYC MMP1 DAPK3 CDKN2A
25
Show member pathways
10.95 TP53 MYC CDKN2A
26 10.92 TP53 MYC CDKN2A
27 10.78 TGFB1 RXRA

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 space GO:0005615 9.92 THBS1 TGFB1 PLOD3 KRT1 HMGB1 FBN1
2 extracellular region GO:0005576 9.81 THBS1 TGFB1 PLOD3 MMP1 KRT1 HMGB1
3 extracellular matrix GO:0031012 9.67 THBS1 TGFB1 MMP1 FBN1
4 P-body GO:0000932 9.43 APOBEC3H APOBEC3B APOBEC3A
5 collagen-containing extracellular matrix GO:0062023 9.17 THBS1 TGFB1 PLOD3 KRT1 FLG FBN1
6 cornified envelope GO:0001533 9.13 KRT1 IVL FLG

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.92 TP53 TGFB1 HMGB1 DAPK3 CDKN2A
2 extracellular matrix organization GO:0030198 9.9 THBS1 MMP1 FBN1 COL7A1
3 positive regulation of cell migration GO:0030335 9.88 THBS1 TGFB1 MIR711 DAPK3
4 response to drug GO:0042493 9.88 TP53 THBS1 TGFB1 MYC ARG1
5 cellular response to transforming growth factor beta stimulus GO:0071560 9.71 TGFB1 FBN1 ARG1
6 positive regulation of blood vessel endothelial cell migration GO:0043536 9.69 THBS1 TGFB1 HMGB1
7 negative regulation of blood vessel endothelial cell migration GO:0043537 9.67 THBS1 TGFB1 HMGB1
8 positive regulation of cell cycle arrest GO:0071158 9.63 TP53 TGFB1 CDKN2A
9 positive regulation of fibroblast migration GO:0010763 9.61 THBS1 TGFB1
10 positive regulation of histone deacetylation GO:0031065 9.61 TP53 TGFB1
11 negative regulation of transposition GO:0010529 9.61 APOBEC3H APOBEC3B APOBEC3A
12 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.59 TP53 TGFB1
13 negative regulation of production of miRNAs involved in gene silencing by miRNA GO:1903799 9.58 TP53 TGFB1
14 DNA demethylation GO:0080111 9.58 APOBEC3H APOBEC3B APOBEC3A
15 cellular response to insulin-like growth factor stimulus GO:1990314 9.57 TGFB1 FBN1
16 chromatin assembly GO:0031497 9.56 TP53 HMGB1
17 negative regulation of neuroblast proliferation GO:0007406 9.55 TP53 TGFB1
18 negative regulation of single stranded viral RNA replication via double stranded DNA intermediate GO:0045869 9.54 APOBEC3H APOBEC3B APOBEC3A
19 cytidine to uridine editing GO:0016554 9.5 APOBEC3H APOBEC3B APOBEC3A
20 cytidine deamination GO:0009972 9.43 APOBEC3H APOBEC3B APOBEC3A
21 cell cycle arrest GO:0007050 9.35 TP53 THBS1 TGFB1 MYC CDKN2A
22 DNA cytosine deamination GO:0070383 9.33 APOBEC3H APOBEC3B APOBEC3A
23 peptide cross-linking GO:0018149 8.92 THBS1 KRT1 IVL FLG

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

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.73 TP53 RXRA MMP1 APOBEC3H APOBEC3B APOBEC3A
2 MDM2/MDM4 family protein binding GO:0097371 9.16 TP53 CDKN2A
3 cytidine deaminase activity GO:0004126 9.13 APOBEC3H APOBEC3B APOBEC3A
4 deoxycytidine deaminase activity GO:0047844 8.8 APOBEC3H APOBEC3B APOBEC3A

Sources for Recessive Dystrophic Epidermolysis Bullosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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