MCID: RCS002
MIFTS: 57

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 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:



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 recessive dystrophic epidermolysis bullosa-generalized other, 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 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, and related phenotypes are narrow mouth and blepharitis

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 82)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa dystrophica, autosomal recessive 34.7 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 chronic actinic dermatitis 10.8 FLG MMP1
8 fibromatosis, gingival, 1 10.7 MMP1 TGFB1
9 esophagitis 10.6
10 keloids 10.6 MMP1 TGFB1
11 bowenoid papulosis 10.5 CDKN2A FLG
12 epidermolysis bullosa pruriginosa 10.5 COL7A1 FLG MMP1
13 epidermolysis bullosa dystrophica 10.5 COL7A1 FLG MMP1
14 brain stem astrocytic neoplasm 10.4 CDKN2A TP53
15 keratinizing squamous cell carcinoma 10.4 CDKN2A TP53
16 spitz nevus 10.4 CDKN2A TP53
17 bladder carcinoma in situ 10.4 CDKN2A TP53
18 bartholin's gland benign neoplasm 10.4 CDKN2A TP53
19 vulva squamous cell carcinoma 10.4 CDKN2A TP53
20 thyroid lymphoma 10.4 CDKN2A TP53
21 nasal cavity adenocarcinoma 10.4 CDKN2A TP53
22 bone squamous cell carcinoma 10.4 CDKN2A TP53
23 scrotal carcinoma 10.4 CDKN2A TP53
24 anal squamous cell carcinoma 10.4 CDKN2A TP53
25 glycogen-rich clear cell breast carcinoma 10.4 CDKN2A TP53
26 gastric adenosquamous carcinoma 10.3 CDKN2A TP53
27 oral leukoplakia 10.3 CDKN2A TP53
28 anogenital venereal wart 10.3 CDKN2A TP53
29 megaesophagus 10.3 CDKN2A TP53
30 chronic ulcer of skin 10.3
31 amyloidosis 10.3
32 cervix uteri carcinoma in situ 10.3 CDKN2A TP53
33 lymph node cancer 10.3 IGFBP3 TP53
34 schneiderian carcinoma 10.3 CDKN2A TP53
35 meningeal melanomatosis 10.3 CDKN2A TP53
36 gingival disease 10.3 MMP1 TGFB1
37 dedifferentiated liposarcoma 10.3 CDKN2A TP53
38 suppressor of tumorigenicity 3 10.3 CDKN2A TP53
39 oropharynx cancer 10.3 CDKN2A TP53
40 endocervical adenocarcinoma 10.3 CDKN2A TP53
41 dilated cardiomyopathy 10.2
42 glomerulonephritis 10.2
43 iga glomerulonephritis 10.2
44 cervix small cell carcinoma 10.2 CDKN2A TP53
45 localized scleroderma 10.2 MMP1 TGFB1
46 nodular malignant melanoma 10.2 CDKN2A MMP1
47 necrotizing sialometaplasia 10.2 CDKN2A TP53
48 basaloid squamous cell carcinoma 10.2 CDKN2A TP53
49 biliary tract neoplasm 10.2 CDKN2A TP53
50 inverted papilloma 10.1 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

Human phenotypes related to Recessive Dystrophic Epidermolysis Bullosa:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 narrow mouth 32 hallmark (90%) HP:0000160
2 blepharitis 32 frequent (33%) HP:0000498
3 progressive visual loss 32 frequent (33%) HP:0000529
4 ectropion 32 frequent (33%) HP:0000656
5 carious teeth 32 hallmark (90%) HP:0000670
6 delayed puberty 32 frequent (33%) HP:0000823
7 osteopenia 32 frequent (33%) HP:0000938
8 osteoporosis 32 frequent (33%) HP:0000939
9 pruritus 32 hallmark (90%) HP:0000989
10 milia 32 hallmark (90%) HP:0001056
11 flexion contracture 32 frequent (33%) HP:0001371
12 dilated cardiomyopathy 32 occasional (7.5%) HP:0001644
13 absent toenail 32 hallmark (90%) HP:0001802
14 absent fingernail 32 hallmark (90%) HP:0001817
15 dysphagia 32 hallmark (90%) HP:0002015
16 constipation 32 hallmark (90%) HP:0002019
17 esophageal stricture 32 hallmark (90%) HP:0002043
18 hypoalbuminemia 32 occasional (7.5%) HP:0003073
19 mitten deformity 32 frequent (33%) HP:0004057
20 dermal atrophy 32 hallmark (90%) HP:0004334
21 abnormality of the anus 32 hallmark (90%) HP:0004378
22 scarring alopecia of scalp 32 frequent (33%) HP:0004552
23 refractory anemia 32 hallmark (90%) HP:0005505
24 squamous cell carcinoma of the skin 32 hallmark (90%) HP:0006739
25 abnormal blistering of the skin 32 hallmark (90%) HP:0008066
26 ankyloglossia 32 hallmark (90%) HP:0010296
27 loss of eyelashes 32 frequent (33%) HP:0011457
28 corneal erosion 32 frequent (33%) HP:0200020

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 viability with paclitaxel GR00293-A 8.8 TP53 ARG1 DAPK3

MGI Mouse Phenotypes related to Recessive Dystrophic Epidermolysis Bullosa:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.1 CDKN2A COL7A1 IGFBP3 PLOD3 TGFB1 TP53

Drugs & Therapeutics for Recessive Dystrophic Epidermolysis Bullosa

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

(show all 31)
# 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,Phase 2,Not Applicable
3 Anti-Infective Agents Phase 1, Phase 2,Phase 2,Not Applicable
4 Gentamicins Phase 1, Phase 2,Phase 2,Not Applicable
5 Anesthetics Phase 1, Phase 2
6 Anesthetics, General Phase 1, Phase 2
7 Antibiotics, Antitubercular Phase 1, Phase 2,Not Applicable
8 Anti-Inflammatory Agents 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 60-00-4, 62-33-9 6049
13
Heparin Approved, Investigational 9005-49-6 772 46507594
14
Pentetic acid Approved 67-43-6
15
alemtuzumab Approved, Investigational Early Phase 1 216503-57-0
16
Busulfan Approved, Investigational Early Phase 1,Not Applicable 55-98-1 2478
17
Fludarabine Approved Early Phase 1,Not Applicable 21679-14-1, 75607-67-9 30751
18
Lorazepam Approved Early Phase 1 846-49-1 3958
19
Tacrolimus Approved, Investigational Early Phase 1 104987-11-3 445643 439492
20
Petrolatum Approved, Investigational Not Applicable 8009-03-8
21
Cyclophosphamide Approved, Investigational Not Applicable 50-18-0, 6055-19-2 2907
22 Antibodies
23 Autoantibodies
24 calcium heparin
25 Immunoglobulins
26 Alkylating Agents Not Applicable
27 Antimetabolites Not Applicable
28 Antimetabolites, Antineoplastic Not Applicable
29 Antineoplastic Agents, Alkylating Not Applicable
30 Antirheumatic Agents Not Applicable
31 Immunosuppressive Agents Not Applicable

Interventional clinical trials:

(show all 19)
# 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 Allogeneic ABCB5-positive Stem Cells for Treatment of Epidermolysis Bullosa Not yet recruiting NCT03529877 Phase 1, Phase 2
9 Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00014729 Phase 1 isotretinoin
10 Autologous Transplantation of Cultured Fibroblast on Amniotic Membrane in Patients With Epidermolysis Bullosa Completed NCT01908088 Phase 1
11 Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT02493816 Phase 1 Gene-modified autologous fibroblasts
12 Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT01874769
13 Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa Unknown status NCT01019148
14 Allogeneic Stem Cell Transplantation (ALLOSCT) in Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT00881556 Early Phase 1 Reduced Intensity Transplant conditioning
15 Characteristics of Adult Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00904163
16 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
17 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients Enrolling by invitation NCT02698735 Not Applicable Gentamicin;Placebo
18 Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene Transfer Terminated NCT00533572
19 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, Pons, Testes, Ovary, Lymph Node

Publications for Recessive Dystrophic Epidermolysis Bullosa

Articles related to Recessive Dystrophic Epidermolysis Bullosa:

(show top 50) (show all 365)
# 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
Inside out: regenerative medicine for recessive dystrophic epidermolysis bullosa. ( 29593249 )
2018
15
Reduced microbial diversity is a feature of recessive dystrophic epidermolysis bullosa involved skin and wounds. ( 29753707 )
2018
16
Establishment of integration-free induced pluripotent stem cells from human recessive dystrophic epidermolysis bullosa keratinocytes. ( 29229433 )
2017
17
Genetic Profiles of Squamous Cell Carcinomas Associated with Recessive Dystrophic Epidermolysis Bullosa Unveil NOTCH and TP53 Mutations and an Increased MYC Expression. ( 29291383 )
2017
18
Recessive dystrophic epidermolysis bullosa results in painful small fibre neuropathy. ( 28369282 )
2017
19
Inpatient management of children with recessive dystrophic epidermolysis bullosa: A review. ( 28944966 )
2017
20
Recessive Dystrophic Epidermolysis Bullosa and Pregnancy. ( 29203033 )
2017
21
Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients. ( 28691931 )
2017
22
Efficient in vivo gene editing using ribonucleoproteins in skin stem cells of recessive dystrophic epidermolysis bullosa mouse model. ( 28137859 )
2017
23
Oral manifestations as the main feature of late-onset recessive dystrophic epidermolysis bullosa. ( 29080321 )
2017
24
A case of recessive dystrophic epidermolysis bullosa with a novel c.6885_6898del14 mutation in the COL7A1 gene. ( 28427821 )
2017
25
Validity and Accuracy of a Mobile Phone Application for the Assessment of Wounds in Recessive Dystrophic Epidermolysis Bullosa. ( 29146128 )
2017
26
Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs. ( 28493971 )
2017
27
COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa. ( 28800953 )
2017
28
Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa. ( 28357176 )
2017
29
Pathomechanisms of Altered Wound Healing in Recessive Dystrophic Epidermolysis Bullosa. ( 28460207 )
2017
30
Rapid generation of Col7a1(-/-) mouse model of recessive dystrophic epidermolysis bullosa and partial rescue via immunosuppressive dermal mesenchymal stem cells. ( 28892093 )
2017
31
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
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
Correction of recessive dystrophic epidermolysis bullosa by transposon-mediated integration of COL7A1 in transplantable patient-derived primary keratinocytes. ( 28027893 )
2016
35
miR-29 Regulates Type VII Collagen in Recessive Dystrophic Epidermolysis Bullosa. ( 27328306 )
2016
36
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
37
Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa. ( 27754488 )
2016
38
Gene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes. ( 27045209 )
2016
39
A type VII collagen subdomain mutant is thermolabile and shows enhanced proteolytic degradability - implications for the pathogenesis of recessive dystrophic epidermolysis bullosa? ( 27989960 )
2016
40
Quality of Life and Economic Burden in Recessive Dystrophic Epidermolysis Bullosa. ( 26848213 )
2016
41
Maintenance Hemodialysis Using Native Arteriovenous Fistula in a Patient with Severe Generalized Recessive Dystrophic Epidermolysis Bullosa. ( 27722157 )
2016
42
Meganuclease-Mediated COL7A1 Gene Correction for Recessive Dystrophic Epidermolysis Bullosa. ( 26897595 )
2016
43
Persistent elevation of serum interleukin-6 and serum amyloid A levels in patients with recessive dystrophic epidermolysis bullosa. ( 27777188 )
2016
44
Recessive dystrophic epidermolysis bullosa caused by a de novo interstitial deletion spanning COL7A1 and a hemizygous splicing mutation in trans. ( 26940370 )
2016
45
Type VII Collagen Replacement Therapy in Recessive Dystrophic Epidermolysis Bullosa-How Much, How Often? ( 27212645 )
2016
46
Long-Term Follow-Up of Amniotic Membrane Graft for the Treatment of Symblepharon in a Patient With Recessive Dystrophic Epidermolysis Bullosa. ( 27124783 )
2016
47
Gene-Corrected Fibroblast Therapy for Recessive Dystrophic Epidermolysis Bullosa using a Self-Inactivating COL7A1 RetroviralA Vector. ( 26994967 )
2016
48
Safety and Wound Outcomes Following Genetically Corrected Autologous Epidermal Grafts in Patients With Recessive Dystrophic Epidermolysis Bullosa. ( 27802546 )
2016
49
Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa. ( 27408687 )
2016
50
The Importance of Esophagography in Patients With Recessive Dystrophic Epidermolysis Bullosa. ( 27384758 )
2016

Variations for Recessive Dystrophic Epidermolysis Bullosa

ClinVar genetic disease variations for Recessive Dystrophic Epidermolysis Bullosa:

6
(show top 50) (show all 67)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL7A1 COL7A1, 1-BP DEL, 5818C deletion Pathogenic
2 COL7A1 NM_000094.3(COL7A1): c.8393T> A (p.Met2798Lys) single nucleotide variant Pathogenic rs121912828 GRCh37 Chromosome 3, 48603714: 48603714
3 COL7A1 NM_000094.3(COL7A1): c.8393T> A (p.Met2798Lys) single nucleotide variant Pathogenic rs121912828 GRCh38 Chromosome 3, 48566281: 48566281
4 COL7A1 COL7A1, 1-BP INS, 2470G insertion Pathogenic
5 COL7A1 COL7A1, 1-BP DEL, 3858G deletion Pathogenic
6 COL7A1 NM_000094.3(COL7A1): c.933C> A (p.Tyr311Ter) single nucleotide variant Pathogenic rs121912830 GRCh37 Chromosome 3, 48630046: 48630046
7 COL7A1 NM_000094.3(COL7A1): c.933C> A (p.Tyr311Ter) single nucleotide variant Pathogenic rs121912830 GRCh38 Chromosome 3, 48592613: 48592613
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.8440C> T (p.Arg2814Ter) single nucleotide variant Pathogenic rs143457874 GRCh37 Chromosome 3, 48603069: 48603069
43 COL7A1 NM_000094.3(COL7A1): c.8440C> T (p.Arg2814Ter) single nucleotide variant Pathogenic rs143457874 GRCh38 Chromosome 3, 48565636: 48565636
44 COL7A1 NM_000094.3(COL7A1): c.3971delT (p.Leu1324Glnfs) deletion Pathogenic rs886044621 GRCh37 Chromosome 3, 48622473: 48622473
45 COL7A1 NM_000094.3(COL7A1): c.3971delT (p.Leu1324Glnfs) deletion Pathogenic rs886044621 GRCh38 Chromosome 3, 48585040: 48585040
46 COL7A1 NM_000094.3(COL7A1): c.1732C> T (p.Arg578Ter) single nucleotide variant Pathogenic rs144023803 GRCh37 Chromosome 3, 48628154: 48628154
47 COL7A1 NM_000094.3(COL7A1): c.1732C> T (p.Arg578Ter) single nucleotide variant Pathogenic rs144023803 GRCh38 Chromosome 3, 48590721: 48590721
48 COL7A1 NM_000094.3(COL7A1): c.682+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs775288140 GRCh37 Chromosome 3, 48630534: 48630534
49 COL7A1 NM_000094.3(COL7A1): c.682+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs775288140 GRCh38 Chromosome 3, 48593101: 48593101
50 COL7A1 NM_000094.3(COL7A1): c.6527dupC (p.Gly2177Trpfs) duplication Pathogenic rs768128088 GRCh37 Chromosome 3, 48611298: 48611298

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 9.63 ARG1 COL7A1 HMGB1 IGFBP3 SAA4 TGFB1
2 extracellular region GO:0005576 9.5 ARG1 COL7A1 HMGB1 IGFBP3 MMP1 SAA4
3 extracellular matrix GO:0031012 8.92 COL7A1 MMP1 PLOD3 TGFB1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.78 CDKN2A IGFBP3 TGFB1 TP53
2 cell cycle arrest GO:0007050 9.63 CDKN2A TGFB1 TP53
3 regulation of apoptotic process GO:0042981 9.56 DAPK3 IGFBP3 TGFB1 TP53
4 cellular response to ionizing radiation GO:0071479 9.54 TGFB1 TP53
5 negative regulation of cell growth GO:0030308 9.54 CDKN2A TGFB1 TP53
6 cellular response to dexamethasone stimulus GO:0071549 9.52 ARG1 TGFB1
7 positive regulation of cell cycle arrest GO:0071158 9.51 TGFB1 TP53
8 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.49 TGFB1 TP53
9 regulation of actin cytoskeleton reorganization GO:2000249 9.43 DAPK3 TGFB1
10 positive regulation of protein oligomerization GO:0032461 9.4 MMP1 TP53
11 replicative senescence GO:0090399 9.32 CDKN2A TP53
12 positive regulation of histone deacetylation GO:0031065 9.16 TGFB1 TP53
13 positive regulation of apoptotic process GO:0043065 9.1 CDKN2A DAPK3 HMGB1 IGFBP3 TGFB1 TP53
14 chromatin assembly GO:0031497 8.96 HMGB1 TP53

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

# Name GO ID Score Top Affiliating Genes
1 disordered domain specific binding GO:0097718 8.96 CDKN2A TP53
2 chemoattractant activity GO:0042056 8.62 HMGB1 SAA4

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
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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
Content
Loading form....