MCID: RCS002
MIFTS: 55

Recessive Dystrophic Epidermolysis Bullosa

Categories: 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 49 28 14 37
Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type 12 49
Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis 12 49
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa 12 49
Rdeb, Hallopeau-Siemens Type 12 49
Severe Generalized Rdeb 12 49
Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized 49
Hallopeau-Siemens Disease 69
Rdeb Generalisata Gravis 49
Rdeb, Severe Generalized 49
Rdeb-Sev Gen 49

Classifications:



Summaries for Recessive Dystrophic Epidermolysis Bullosa

NIH Rare Diseases : 49 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 epidermolysis bullosa dystrophica, autosomal recessive and recessive dystrophic epidermolysis bullosa-generalized other, and has symptoms including narrow mouth, blepharitis and progressive visual loss. An important gene associated with Recessive Dystrophic Epidermolysis Bullosa is COL7A1 (Collagen Type VII Alpha 1 Chain), and among its related pathways/superpathways are Pathways in cancer and Degradation of the extracellular matrix. The drugs Imidacloprid and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow.

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 52)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa dystrophica, autosomal recessive 34.1 COL7A1 MMP1
2 recessive dystrophic epidermolysis bullosa-generalized other 12.5
3 centripetalis recessive dystrophic epidermolysis bullosa 12.3
4 epidermolysis bullosa 11.4
5 epidermolysis bullosa dystrophica neurotrophica 11.3
6 squamous cell carcinoma 10.9
7 esophagitis 10.6
8 chronic actinic dermatitis 10.4 FLG MMP1
9 chronic ulcer of skin 10.3
10 amyloidosis 10.3
11 fibromatosis, gingival, 1 10.3 MMP1 TGFB1
12 glomerulonephritis 10.2
13 keloids 10.2 MMP1 TGFB1
14 gingival disease 10.2 MMP1 TGFB1
15 epidermolysis bullosa pruriginosa 10.2 COL7A1 FLG MMP1
16 epidermolysis bullosa dystrophica 10.2 COL7A1 FLG MMP1
17 localized scleroderma 10.1 MMP1 TGFB1
18 blood group, i system 10.1
19 hypercalcemia, infantile, 1 10.1
20 marfan syndrome 10.1
21 neutrophilia, hereditary 10.1
22 osteoporosis 10.1
23 ichthyosis, x-linked 10.1
24 basal cell carcinoma 1 10.1
25 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 10.1
26 bone mineral density quantitative trait locus 8 10.1
27 bone mineral density quantitative trait locus 15 10.1
28 episodic pain syndrome, familial, 1 10.1
29 arteriovenous fistula 10.1
30 dilated cardiomyopathy 10.1
31 hepatitis 10.1
32 left ventricular noncompaction 10.1
33 nephrotic syndrome 10.1
34 ichthyosis 10.1
35 melanoma 10.1
36 dental caries 10.1
37 basal cell carcinoma 10.1
38 iga glomerulonephritis 10.1
39 hidrocystoma 10.1
40 epidermolysis bullosa simplex 10.1
41 peritonitis 10.1
42 neuropathy 10.1
43 dwarfism 10.1
44 anti-p200 pemphigoid 10.1
45 filamentary keratitis 10.0 FLG KRT1
46 ichthyosis vulgaris 10.0 FLG KRT1
47 palmoplantar keratoderma, nonepidermolytic 10.0 FLG KRT1
48 leukoregulin 9.9 JUN TGFB1
49 skin disease 9.9 COL7A1 FLG KRT1
50 idiopathic neutropenia 9.8 HMGB1 TGFB1

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 28)
# Description HPO Frequency HPO Source Accession
1 narrow mouth 31 hallmark (90%) HP:0000160
2 blepharitis 31 frequent (33%) HP:0000498
3 progressive visual loss 31 frequent (33%) HP:0000529
4 ectropion 31 frequent (33%) HP:0000656
5 carious teeth 31 hallmark (90%) HP:0000670
6 delayed puberty 31 frequent (33%) HP:0000823
7 osteopenia 31 frequent (33%) HP:0000938
8 osteoporosis 31 frequent (33%) HP:0000939
9 pruritus 31 hallmark (90%) HP:0000989
10 milia 31 hallmark (90%) HP:0001056
11 flexion contracture 31 frequent (33%) HP:0001371
12 dilated cardiomyopathy 31 occasional (7.5%) HP:0001644
13 absent toenail 31 hallmark (90%) HP:0001802
14 absent fingernail 31 hallmark (90%) HP:0001817
15 dysphagia 31 hallmark (90%) HP:0002015
16 constipation 31 hallmark (90%) HP:0002019
17 esophageal stricture 31 hallmark (90%) HP:0002043
18 hypoalbuminemia 31 occasional (7.5%) HP:0003073
19 mitten deformity 31 frequent (33%) HP:0004057
20 dermal atrophy 31 hallmark (90%) HP:0004334
21 abnormality of the anus 31 hallmark (90%) HP:0004378
22 scarring alopecia of scalp 31 frequent (33%) HP:0004552
23 refractory anemia 31 hallmark (90%) HP:0005505
24 squamous cell carcinoma of the skin 31 hallmark (90%) HP:0006739
25 abnormal blistering of the skin 31 hallmark (90%) HP:0008066
26 ankyloglossia 31 hallmark (90%) HP:0010296
27 loss of eyelashes 31 frequent (33%) HP:0011457
28 corneal erosion 31 frequent (33%) HP:0200020

UMLS symptoms related to Recessive Dystrophic Epidermolysis Bullosa:


onychomadesis, constipation

Drugs & Therapeutics for Recessive Dystrophic Epidermolysis Bullosa

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

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Imidacloprid Vet_approved Phase 1, Phase 2 105827-78-9 86418
2 Anti-Bacterial Agents Phase 1, Phase 2
3 Anti-Infective Agents Phase 1, Phase 2
4 Gentamicins Phase 1, Phase 2
5 Anesthetics Phase 1, Phase 2
6 Anesthetics, General Phase 1, Phase 2
7 Antibiotics, Antitubercular Phase 1, Phase 2
8 Anti-Inflammatory Agents Phase 1, Phase 2
9 Mitogens Phase 1, Phase 2
10
Isotretinoin Approved Phase 1 4759-48-2 5282379 5538
11 Dermatologic Agents Phase 1
12
Edetic Acid Approved, Vet_approved 60-00-4, 62-33-9 6049
13
Heparin Approved, Investigational 9005-49-6 46507594 772
14
alemtuzumab Approved, Investigational Early Phase 1 216503-57-0
15
Busulfan Approved, Investigational Early Phase 1 55-98-1 2478
16
Fludarabine Approved Early Phase 1 21679-14-1, 75607-67-9 30751
17
Lorazepam Approved Early Phase 1 846-49-1 3958
18
Tacrolimus Approved, Investigational Early Phase 1 104987-11-3 445643 439492
19
Petrolatum Approved, Investigational 8009-03-8
20
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
21 Antibodies
22 Autoantibodies
23 calcium heparin
24 Immunoglobulins
25 Pentetic Acid
26 Alkylating Agents
27 Antimetabolites
28 Antimetabolites, Antineoplastic
29 Antirheumatic Agents
30 Immunosuppressive Agents

Interventional clinical trials:

(show all 18)

# 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 Recruiting NCT03012191 Phase 1, Phase 2 Gentamicin Sulfate
3 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)
4 A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT02810951 Phase 1, Phase 2 Sterile Saline
5 Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT02323789 Phase 1, Phase 2 Mesenchymal stromal cells
6 Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT01263379 Phase 1, Phase 2
7 Intravenous Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Not yet recruiting NCT03392909 Phase 1, Phase 2 Gentamicin
8 Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00014729 Phase 1 isotretinoin
9 Autologous Transplantation of Cultured Fibroblast on Amniotic Membrane in Patients With Epidermolysis Bullosa Completed NCT01908088 Phase 1
10 Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT02493816 Phase 1 Gene-modified autologous fibroblasts
11 Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT01874769
12 Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa Unknown status NCT01019148
13 Allogeneic Stem Cell Transplantation (ALLOSCT) in Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT00881556 Early Phase 1 Reduced Intensity Transplant conditioning
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 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients Enrolling by invitation NCT02698735 Gentamicin;Placebo
17 Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene Transfer Terminated NCT00533572
18 Allogeneic Hematopoietic Stem Cell Transplant For Epidermolysis Bullosa Terminated NCT00478244 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 28 COL7A1 MMP1

Anatomical Context for Recessive Dystrophic Epidermolysis Bullosa

MalaCards organs/tissues related to Recessive Dystrophic Epidermolysis Bullosa:

38
Skin, Bone, Bone Marrow, Pons, Lymph Node, Ovary

Publications for Recessive Dystrophic Epidermolysis Bullosa

Articles related to Recessive Dystrophic Epidermolysis Bullosa:

(show top 50) (show all 349)
# Title Authors Year
1
Translating the combination of gene therapy and tissue engineering for treating recessive dystrophic epidermolysis bullosa. ( 29441510 )
2018
2
First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru. ( 29427316 )
2018
3
Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa. ( 28357176 )
2017
4
Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs. ( 28493971 )
2017
5
Oral manifestations as the main feature of late-onset recessive dystrophic epidermolysis bullosa. ( 29080321 )
2017
6
Validity and Accuracy of a Mobile Phone Application for the Assessment of Wounds in Recessive Dystrophic Epidermolysis Bullosa. ( 29146128 )
2017
7
Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients. ( 28691931 )
2017
8
Pathomechanisms of Altered Wound Healing in Recessive Dystrophic Epidermolysis Bullosa. ( 28460207 )
2017
9
A case of recessive dystrophic epidermolysis bullosa with a novel c.6885_6898del14 mutation in the COL7A1 gene. ( 28427821 )
2017
10
COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa. ( 28800953 )
2017
11
Recessive dystrophic epidermolysis bullosa results in painful small fibre neuropathy. ( 28369282 )
2017
12
Establishment of integration-free induced pluripotent stem cells from human recessive dystrophic epidermolysis bullosa keratinocytes. ( 29229433 )
2017
13
Efficient in vivo gene editing using ribonucleoproteins in skin stem cells of recessive dystrophic epidermolysis bullosa mouse model. ( 28137859 )
2017
14
Recessive Dystrophic Epidermolysis Bullosa and Pregnancy. ( 29203033 )
2017
15
Inpatient management of children with recessive dystrophic epidermolysis bullosa: A review. ( 28944966 )
2017
16
Genetic Profiles of Squamous Cell Carcinomas Associated with Recessive Dystrophic Epidermolysis Bullosa Unveil NOTCH and TP53 Mutations and an Increased MYC Expression. ( 29291383 )
2017
17
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
18
Rapid generation of Col7a1(-/-) mouse model of recessive dystrophic epidermolysis bullosa and partial rescue via immunosuppressive dermal mesenchymal stem cells. ( 28892093 )
2017
19
Persistent elevation of serum interleukin-6 and serum amyloid A levels in patients with recessive dystrophic epidermolysis bullosa. ( 27777188 )
2016
20
Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa. ( 27754488 )
2016
21
Meganuclease-Mediated COL7A1 Gene Correction for Recessive Dystrophic Epidermolysis Bullosa. ( 26897595 )
2016
22
Type VII Collagen Replacement Therapy in Recessive Dystrophic Epidermolysis Bullosa-How Much, How Often? ( 27212645 )
2016
23
Toxic Epidermal Necrolysis in Recessive Dystrophic Epidermolysis Bullosa following Bone Marrow Transplantation. ( 26976809 )
2016
24
Gene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes. ( 27045209 )
2016
25
Recessive dystrophic epidermolysis bullosa caused by a de novo interstitial deletion spanning COL7A1 and a hemizygous splicing mutation in trans. ( 26940370 )
2016
26
Gene-Corrected Fibroblast Therapy for Recessive Dystrophic Epidermolysis Bullosa using a Self-Inactivating COL7A1 RetroviralA Vector. ( 26994967 )
2016
27
Long-Term Follow-Up of Amniotic Membrane Graft for the Treatment of Symblepharon in a Patient With Recessive Dystrophic Epidermolysis Bullosa. ( 27124783 )
2016
28
miR-29 Regulates Type VII Collagen in Recessive Dystrophic Epidermolysis Bullosa. ( 27328306 )
2016
29
Quality of Life and Economic Burden in Recessive Dystrophic Epidermolysis Bullosa. ( 26848213 )
2016
30
Correction of recessive dystrophic epidermolysis bullosa by transposon-mediated integration of COL7A1 in transplantable patient-derived primary keratinocytes. ( 28027893 )
2016
31
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
32
Canakinumab in recessive dystrophic epidermolysis bullosa: a novel unexpected weapon for non-healing wounds? ( 26885873 )
2016
33
A Non-Viral Gene Therapy for Treatment of Recessive Dystrophic Epidermolysis Bullosa. ( 27117059 )
2016
34
Safety and Wound Outcomes Following Genetically Corrected Autologous Epidermal Grafts in Patients With Recessive Dystrophic Epidermolysis Bullosa. ( 27802546 )
2016
35
Maintenance Hemodialysis Using Native Arteriovenous Fistula in a Patient with Severe Generalized Recessive Dystrophic Epidermolysis Bullosa. ( 27722157 )
2016
36
Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa. ( 27408687 )
2016
37
The Importance of Esophagography in Patients With Recessive Dystrophic Epidermolysis Bullosa. ( 27384758 )
2016
38
A type VII collagen subdomain mutant is thermolabile and shows enhanced proteolytic degradability - implications for the pathogenesis of recessive dystrophic epidermolysis bullosa? ( 27989960 )
2016
39
Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa. ( 26148662 )
2015
40
Recessive dystrophic epidermolysis bullosa: a review of disease pathogenesis and update on future therapies. ( 26029334 )
2015
41
Innovative Therapeutic Strategies for Recessive Dystrophic Epidermolysis Bullosa. ( 25796272 )
2015
42
Potential of Systemic Allogeneic Mesenchymal Stromal Cell Therapy for Children With Recessive Dystrophic Epidermolysis Bullosa. ( 25905587 )
2015
43
A COL7A1 variant leading to in-frame skipping of exon 15 attenuates disease severity in recessive dystrophic epidermolysis bullosa. ( 26076072 )
2015
44
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
45
Induced pluripotent stem cells for the treatment of recessive dystrophic epidermolysis bullosa. ( 26807404 )
2015
46
Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa. ( 26380979 )
2015
47
Update on the pathogenesis of squamous cell carcinoma development in recessive dystrophic epidermolysis bullosa. ( 26083672 )
2015
48
Pseudosyndactyly - an inflammatory and fibrotic wound healing disorder in recessive dystrophic epidermolysis bullosa. ( 26612796 )
2015
49
Transplanted bone marrow-derived circulating PDGFRI++ cells restore type VII collagen in recessive dystrophic epidermolysis bullosa mouse skin graft. ( 25601922 )
2015
50
Purified type I collagen wound matrix improves chronic wound healing in patients with recessive dystrophic epidermolysis bullosa. ( 25557742 )
2015

Variations for Recessive Dystrophic Epidermolysis Bullosa

ClinVar genetic disease variations for Recessive Dystrophic Epidermolysis Bullosa:

6 (show all 26)
# 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, IVS35DS, G-T, +1 single nucleotide variant Pathogenic
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 COL7A1, 1-BP DEL, 5818C deletion 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.1732C> T (p.Arg578Ter) single nucleotide variant Pathogenic rs144023803 GRCh37 Chromosome 3, 48628154: 48628154
20 COL7A1 NM_000094.3(COL7A1): c.682+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs775288140 GRCh37 Chromosome 3, 48630534: 48630534
21 COL7A1 NM_000094.3(COL7A1): c.6527dupC (p.Gly2177Trpfs) duplication Pathogenic rs768128088 GRCh37 Chromosome 3, 48611298: 48611298
22 COL7A1 NM_000094.3(COL7A1): c.8278G> A (p.Gly2760Arg) single nucleotide variant Pathogenic rs1064797081 GRCh38 Chromosome 3, 48566686: 48566686
23 COL7A1 NM_000094.3(COL7A1): c.5924_5927delAACG (p.Glu1975Glyfs) deletion Pathogenic rs1064797080 GRCh38 Chromosome 3, 48575678: 48575681
24 COL7A1 NM_000094.3(COL7A1): c.4871delC (p.Pro1624Glnfs) deletion Pathogenic rs1064797082 GRCh38 Chromosome 3, 48581288: 48581288
25 COL7A1 NM_000094.3(COL7A1): c.2321_2322insCTGA (p.Glu774Aspfs) insertion Pathogenic rs1064797079 GRCh38 Chromosome 3, 48588988: 48588989
26 COL7A1 NM_000094.3(COL7A1): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs1064797078 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

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 9.7 ARG1 COL7A1 GHRH HMGB1 KRT1 SAA4
2 extracellular region GO:0005576 9.56 ARG1 COL7A1 GHRH HMGB1 KRT1 MMP1
3 extracellular matrix GO:0031012 9.02 COL7A1 KRT1 MMP1 PLOD3 TGFB1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.63 HMGB1 JUN TGFB1
2 aging GO:0007568 9.54 ARG1 JUN TGFB1
3 positive chemotaxis GO:0050918 9.51 HMGB1 SAA4
4 response to radiation GO:0009314 9.49 JUN TGFB1
5 negative regulation of T cell proliferation GO:0042130 9.48 ARG1 TGFB1
6 cellular response to dexamethasone stimulus GO:0071549 9.43 ARG1 TGFB1
7 negative regulation of blood vessel endothelial cell migration GO:0043537 9.4 HMGB1 TGFB1
8 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.32 JUN TGFB1
9 establishment of skin barrier GO:0061436 9.26 FLG KRT1
10 positive regulation of apoptotic process GO:0043065 9.26 DAPK3 HMGB1 JUN TGFB1
11 regulation of actin cytoskeleton reorganization GO:2000249 9.16 DAPK3 TGFB1
12 SMAD protein import into nucleus GO:0007184 8.62 JUN TGFB1

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

# Name GO ID Score Top Affiliating Genes
1 chemoattractant activity GO:0042056 8.96 HMGB1 SAA4
2 structural constituent of epidermis GO:0030280 8.62 FLG KRT1

Sources for Recessive Dystrophic Epidermolysis Bullosa

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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36 KEGG
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65 SNOMED-CT via HPO
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67 TGDB
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