RDEB
MCID: EPD076
MIFTS: 51

Epidermolysis Bullosa Dystrophica, Autosomal Recessive (RDEB)

Categories: Cancer diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

MalaCards integrated aliases for Epidermolysis Bullosa Dystrophica, Autosomal Recessive:

Name: Epidermolysis Bullosa Dystrophica, Autosomal Recessive 57 72 6 39
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Modifier of 57 29 6
Epidermolysis Bullosa Dystrophica, Generalized Severe, Autosomal Recessive 57 72
Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type 57 72
Ebd Inversa 57 13
Rdeb 57 72
Ebr1 57 72
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form 58
Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type 58
Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis 58
Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type; Ebr1 57
Autosomal Recessive Dystrophic Epidermolysis Bullosa Inversa 58
Dystrophic Epidermolysis Bullosa, Autosomal Recessive 57
Autosomal Recessive Dystrophic Epidermolysis Bullosa 72
Dystrophic Epidermolysis Bullosa Inversa 58
Epidermolysis Bullosa Dystrophica, Ar 57
Generalized Rdeb, Severe Form 58
Rdeb, Hallopeau-Siemens Type 58
Hallopeau-Siemens Disease 70
Rdeb Generalisata Gravis 58
Severe Generalized Rdeb 58
Rdeb Inversa 58
Rdeb-I 58

Characteristics:

Orphanet epidemiological data:

58
dystrophic epidermolysis bullosa inversa
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (United States),<1/1000000 (United Kingdom); Age of onset: Infancy,Neonatal; Age of death: adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or infancy
see also dominant deb , an allelic disorder with a less severe phenotype


HPO:

31
epidermolysis bullosa dystrophica, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

OMIM® : 57 Autosomal recessive dystrophic epidermolysis bullosa is a severe skin disorder beginning at birth and characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane. This results in mutilating scarring and contractures of the hands, feet, and joints. Patients also developed strictures of the gastrointestinal tract from mucosal involvement, which can lead to poor nutrition. Affected individuals have an increased risk of developing aggressive squamous cell carcinoma (Christiano et al., 1996; Varki et al., 2007). Allelic disorders include autosomal dominant DEB (DDEB; 131750), in which the phenotype is less severe, and nonsyndromic congenital nail disorder-8 (NDNC8; 607523), which has been found to segregate as an autosomal dominant trait in heterozygous carriers in some families with recessive DEB. (226600) (Updated 05-Apr-2021)

MalaCards based summary : Epidermolysis Bullosa Dystrophica, Autosomal Recessive, also known as epidermolysis bullosa dystrophica, autosomal recessive, modifier of, is related to epidermolysis bullosa dystrophica and recessive dystrophic epidermolysis bullosa, and has symptoms including constipation and onychomadesis. An important gene associated with Epidermolysis Bullosa Dystrophica, Autosomal Recessive is COL7A1 (Collagen Type VII Alpha 1 Chain), and among its related pathways/superpathways are Integrin Pathway and Degradation of the extracellular matrix. The drugs Imidacloprid and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and bone marrow, and related phenotypes are dysphagia and flexion contracture

UniProtKB/Swiss-Prot : 72 Epidermolysis bullosa dystrophica, autosomal recessive: A group of autosomal recessive blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms, such as epidermolysis bullosa dystrophica Hallopeau-Siemens type, to mild forms with limited localized scarring and less frequent extracutaneous manifestations. Mild forms include epidermolysis bullosa mitis and epidermolysis bullosa localisata.

Related Diseases for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

Graphical network of the top 20 diseases related to Epidermolysis Bullosa Dystrophica, Autosomal Recessive:



Diseases related to Epidermolysis Bullosa Dystrophica, Autosomal Recessive

Symptoms & Phenotypes for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

Human phenotypes related to Epidermolysis Bullosa Dystrophica, Autosomal Recessive:

58 31 (show top 50) (show all 70)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 58 31 Occasional (29-5%) HP:0002015
2 flexion contracture 58 31 Very frequent (99-80%) HP:0001371
3 anemia 58 31 Very frequent (99-80%),Occasional (29-5%) HP:0001903
4 growth delay 58 31 Very frequent (99-80%),Occasional (29-5%) HP:0001510
5 narrow mouth 58 31 Occasional (29-5%) HP:0000160
6 abnormal blistering of the skin 58 31 Very frequent (99-80%),Frequent (79-30%) HP:0008066
7 nail dystrophy 58 31 Frequent (79-30%),Frequent (79-30%) HP:0008404
8 milia 58 31 Very frequent (99-80%),Frequent (79-30%) HP:0001056
9 squamous cell carcinoma 58 31 Frequent (79-30%),Excluded (0%) HP:0002860
10 hypoplasia of dental enamel 58 31 Excluded (0%),Excluded (0%) HP:0006297
11 fragile skin 58 31 Very frequent (99-80%),Very frequent (99-80%) HP:0001030
12 atrophic scars 58 31 Very frequent (99-80%),Frequent (79-30%) HP:0001075
13 esophageal stricture 58 31 Occasional (29-5%) HP:0002043
14 malnutrition 58 31 Occasional (29-5%) HP:0004395
15 mitten deformity 58 31 Very frequent (99-80%),Occasional (29-5%) HP:0004057
16 depressivity 58 Frequent (79-30%)
17 constipation 31 HP:0002019
18 osteopenia 58 Occasional (29-5%)
19 cataract 31 HP:0000518
20 generalized abnormality of skin 58 Frequent (79-30%)
21 carious teeth 58 Very frequent (99-80%),Frequent (79-30%)
22 gastroesophageal reflux 58 Occasional (29-5%)
23 delayed puberty 58 Occasional (29-5%)
24 renal insufficiency 58 Occasional (29-5%)
25 palmoplantar keratoderma 58 Excluded (0%),Excluded (0%)
26 osteoporosis 58 Occasional (29-5%)
27 anxiety 58 Frequent (79-30%)
28 alopecia 31 HP:0001596
29 gastrointestinal inflammation 58 Very frequent (99-80%),Frequent (79-30%)
30 dilated cardiomyopathy 58 Occasional (29-5%)
31 abnormality of the eye 58 Frequent (79-30%),Excluded (0%)
32 low levels of vitamin d 58 Occasional (29-5%)
33 abnormality of the urinary system 58 Very rare (<4-1%),Frequent (79-30%)
34 conjunctivitis 31 HP:0000509
35 stenosis of the external auditory canal 58 Occasional (29-5%)
36 nail dysplasia 31 HP:0002164
37 corneal erosion 58 Occasional (29-5%),Occasional (29-5%)
38 basal cell carcinoma 58 Excluded (0%),Excluded (0%)
39 cutaneous melanoma 58 Occasional (29-5%),Excluded (0%)
40 visual loss 58 Occasional (29-5%)
41 corneal scarring 31 HP:0000559
42 chronic kidney disease 58 Occasional (29-5%)
43 anonychia 58 Frequent (79-30%),Frequent (79-30%)
44 spontaneous esophageal perforation 31 HP:0005203
45 aplasia cutis congenita 58 Occasional (29-5%)
46 ankyloglossia 58 Occasional (29-5%)
47 abnormality of the scalp 58 Frequent (79-30%),Excluded (0%)
48 recurrent skin infections 58 Occasional (29-5%)
49 urethral stricture 58 Occasional (29-5%),Occasional (29-5%)
50 renal amyloidosis 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Gastrointestinal:
dysphagia
constipation
esophageal blisters
esophageal strictures
anal blisters

Head And Neck Eyes:
conjunctivitis
corneal scarring
cataracts
corneal abrasions
eyelid ulcerations

Neoplasia:
squamous cell carcinoma

Head And Neck Teeth:
enamel hypoplasia

Skeletal:
joint contractures

Growth Other:
poor growth due to poor nutrition

Skeletal Feet:
digital fusion
pseudosyndactyly
mitten deformities

Skin Nails Hair Hair:
alopecia

Skin Nails Hair Skin:
milia
skin fragility
blistering, recurrent
erosions
mucosal lesions
more
Head And Neck Mouth:
microstomia
oral blisters
lingual adhesions

Skin Nails Hair Nails:
dystrophic nails
nail atrophy
loss of nails

Skin Nails Hair Skin Electron Microscopy:
sublamina densa level of tissue separation beneath basal membrane
hypotrophic anchoring fibrils
decreased staining for collagen vii
decreased number or absence of anchoring fibrils at dermal-epidermal junction

Skeletal Hands:
digital fusion
pseudosyndactyly
mitten deformities

Hematology:
anemia due to poor nutrition

Clinical features from OMIM®:

226600 (Updated 05-Apr-2021)

UMLS symptoms related to Epidermolysis Bullosa Dystrophica, Autosomal Recessive:


constipation; onychomadesis

Drugs & Therapeutics for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Imidacloprid Vet_approved Phase 1, Phase 2 105827-78-9 86418
2 Pharmaceutical Solutions Phase 1, Phase 2
3 Gentamicins Phase 1, Phase 2
4 Anti-Infective Agents Phase 1, Phase 2
5 Antibiotics, Antitubercular Phase 1, Phase 2
6 Anesthetics Phase 1, Phase 2
7 Anesthetics, General Phase 1, Phase 2
8 Anti-Bacterial Agents Phase 1, Phase 2
9 Anti-Inflammatory Agents Phase 1, Phase 2
10
Heparin Approved, Investigational 9005-49-6 772 9812414
11
Pentetic acid Approved 67-43-6
12
Edetic Acid Approved, Vet_approved 62-33-9, 60-00-4 6049
13
Fludarabine Approved Early Phase 1 21679-14-1, 75607-67-9 30751
14
alemtuzumab Approved, Investigational Early Phase 1 216503-57-0
15
Busulfan Approved, Investigational Early Phase 1 55-98-1 2478
16
Lorazepam Approved Early Phase 1 846-49-1 3958
17
Tacrolimus Approved, Investigational Early Phase 1 104987-11-3 6473866 445643 439492
18 Antibodies
19 Immunoglobulins
20 calcium heparin
21 Autoantibodies

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 VIITAL: A Phase 3 Study of EB-101 for the Treatment of Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT04227106 Phase 3
2 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
3 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients Completed NCT02698735 Phase 1, Phase 2 Gentamicin;Placebo
4 A First in Human, Double-blind, Randomized, Intra-subject Placebo-controlled, Multiple Dose Study of QR-313 Evaluating Safety, Proof of Mechanism, Preliminary Efficacy and Systemic Exposure in Subjects With DDEB or RDEB Due to Mutation(s) in Exon 73 of the COL7A1 Gene Recruiting NCT03605069 Phase 1, Phase 2 QR-313;Placebo
5 Restoration of Full-Length Type VII Collagen in RDEB Patients With Nonsense Mutations After Intravenous Gentamicin Treatment Recruiting NCT03392909 Phase 1, Phase 2 Gentamicin
6 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)
7 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
8 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
9 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
10 Phase I/II ex Vivo Gene Therapy Clinical Trial for RDEB Using Autologous Skin Equivalent Grafts Genetically Corrected With a COL7A1-encoding SIN Retroviral Vector Enrolling by invitation NCT04186650 Phase 1, Phase 2
11 Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT01874769
12 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

Search NIH Clinical Center for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

Genetic Tests for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

Genetic tests related to Epidermolysis Bullosa Dystrophica, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Modifier of 29

Anatomical Context for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

MalaCards organs/tissues related to Epidermolysis Bullosa Dystrophica, Autosomal Recessive:

40
Eye, Skin, Bone Marrow, Bone, Kidney, Heart, Lung

Publications for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

Articles related to Epidermolysis Bullosa Dystrophica, Autosomal Recessive:

(show top 50) (show all 434)
# Title Authors PMID Year
1
A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa. 61 6 57
18030675 2008
2
Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa. 57 61 6
7883979 1995
3
Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa. 61 57 6
8037207 1994
4
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. 6 57
16971478 2007
5
Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein. 57 6
12787275 2003
6
Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa. 6 57
11843659 2002
7
Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype. 57 6
10469344 1999
8
Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. 6 57
8644729 1996
9
Spontaneous disappearance of intraepidermal type VII collagen in a patient with dystrophic epidermolysis bullosa. 6 57
7577595 1995
10
A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. 57 6
8513326 1993
11
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen. 57 61
21113014 2011
12
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. 6 61
18558993 2008
13
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. 6 61
17495952 2007
14
Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. 61 57
12874109 2003
15
Injection of genetically engineered fibroblasts corrects regenerated human epidermolysis bullosa skin tissue. 57 61
12531881 2003
16
Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa. 61 57
12426566 2002
17
Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa. 61 6
12485454 2002
18
Stable nonviral genetic correction of inherited human skin disease. 61 57
12244305 2002
19
Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa. 6 61
9740253 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. 61 6
9326325 1997
21
Fatal cardiomyopathy in dystrophic epidermolysis bullosa. 61 57
8915155 1996
22
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. 61 6
8755915 1996
23
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
24
DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence. 57 61
7706758 1995
25
Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa. 61 6
8088783 1994
26
Exclusion of linkage between the collagenase gene and generalized recessive dystrophic epidermolysis bullosa phenotype. 61 57
1658051 1991
27
Antenatal diagnosis of recessive dystrophic epidermolysis bullosa: collagenase expression in cultured fibroblasts as a biochemical marker. 61 57
3021861 1986
28
Phenytoin therapy of recessive dystrophic epidermolysis bullosa. Clinical trial and proposed mechanism of action on collagenase. 57 61
6251365 1980
29
Recessive dystrophic epidermolysis bullosa. Evidence for increased collagenase as a genetic characteristic in cell culture. 57 61
214508 1978
30
Novel and recurrent COL7A1 mutation in a Polish population. 6
22266148 2012
31
Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. 57
20818854 2010
32
A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy. 57
18382769 2008
33
Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization. 6
16965329 2006
34
High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa. 6
15888141 2005
35
The role of matrix metalloproteinase polymorphisms in the rate of decline in lung function. 6
11875051 2002
36
A single nucleotide polymorphism in the matrix metalloproteinase-1 (MMP-1) promoter influences amnion cell MMP-1 expression and risk for preterm premature rupture of the fetal membranes. 6
11741975 2002
37
Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets. 6
11167698 2001
38
Inherited dystrophic epidermolysis bullosa in inbred dogs: A spontaneous animal model for somatic gene therapy. 57
10886525 2000
39
The molecular basis of dystrophic epidermolysis bullosa in Mexico. 6
10944088 2000
40
Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing. 6
10583163 1999
41
A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription. 6
9850057 1998
42
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. 6
9804332 1998
43
Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering. 6
9668111 1998
44
Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene. 6
9215684 1997
45
Fatal systemic amyloidosis (AA type) in two sisters with dystrophic epidermolysis bullosa. 57
7615888 1995
46
Dystrophic epidermolysis bullosa inversa: report of two cases with further correlation between electron microscopic and immunofluorescence studies. 57
7615886 1995
47
Oral involvement of recessive dystrophic epidermolysis bullosa inversa. 57
8291553 1993
48
Association of generalized dystrophic epidermolysis bullosa with positive acetylcholinesterase and markedly elevated maternal serum and amniotic fluid alpha-fetoprotein. 57
7680472 1993
49
Oral and gastrointestinal manifestations of epidermolysis bullosa. 57
1361600 1992
50
Lack of efficacy of phenytoin in recessive dystrophic epidermolysis bullosa. Epidermolysis Bullosa Study Group. 57
1608407 1992

Variations for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

ClinVar genetic disease variations for Epidermolysis Bullosa Dystrophica, Autosomal Recessive:

6 (show top 50) (show all 310)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL7A1 COL7A1, IVS3DS, A-G, -2 SNV Pathogenic 17431 GRCh37:
GRCh38:
2 COL7A1 COL7A1, 5820G-A SNV Pathogenic 17432 GRCh37:
GRCh38:
3 COL7A1 COL7A1, IVS95DS, G-A, -1 SNV Pathogenic 17433 GRCh37:
GRCh38:
4 COL7A1 NM_000094.3(COL7A1):c.6946G>A (p.Gly2316Arg) SNV Pathogenic 29633 rs1575430201 GRCh37: 3:48609845-48609845
GRCh38: 3:48572412-48572412
5 COL7A1 NM_000094.3(COL7A1):c.8479C>T (p.Gln2827Ter) SNV Pathogenic 29634 rs387906604 GRCh37: 3:48602891-48602891
GRCh38: 3:48565458-48565458
6 COL7A1 NM_000094.3(COL7A1):c.8393T>A (p.Met2798Lys) SNV Pathogenic 17423 rs121912828 GRCh37: 3:48603714-48603714
GRCh38: 3:48566281-48566281
7 COL7A1 NM_000094.3(COL7A1):c.2471dup (p.Asn825fs) Duplication Pathogenic 17425 rs746056280 GRCh37: 3:48626190-48626191
GRCh38: 3:48588757-48588758
8 COL7A1 NM_000094.3(COL7A1):c.3861del (p.Pro1289fs) Deletion Pathogenic 17426 rs1575470363 GRCh37: 3:48623023-48623023
GRCh38: 3:48585590-48585590
9 COL7A1 NM_000094.3(COL7A1):c.933C>A (p.Tyr311Ter) SNV Pathogenic 17427 rs121912830 GRCh37: 3:48630046-48630046
GRCh38: 3:48592613-48592613
10 COL7A1 NM_000094.3(COL7A1):c.5819del (p.Pro1940fs) Deletion Pathogenic 17428 rs1575442301 GRCh37: 3:48613683-48613683
GRCh38: 3:48576250-48576250
11 COL7A1 NM_000094.3(COL7A1):c.4119+1G>T SNV Pathogenic 17435 rs1575467199 GRCh37: 3:48621917-48621917
GRCh38: 3:48584484-48584484
12 COL7A1 NM_000094.3(COL7A1):c.4783G>C (p.Gly1595Arg) SNV Pathogenic 17443 rs121912840 GRCh37: 3:48618916-48618916
GRCh38: 3:48581483-48581483
13 COL7A1 COL7A1, 14-BP DEL, NT33563 Deletion Pathogenic 17445 GRCh37:
GRCh38:
14 COL7A1 NM_000094.3(COL7A1):c.7957G>A (p.Gly2653Arg) SNV Pathogenic 17458 rs121912851 GRCh37: 3:48605169-48605169
GRCh38: 3:48567736-48567736
15 COL7A1 NM_000094.3(COL7A1):c.8245G>A (p.Gly2749Arg) SNV Pathogenic 17460 rs121912853 GRCh37: 3:48604152-48604152
GRCh38: 3:48566719-48566719
16 COL7A1 NM_000094.3(COL7A1):c.5443G>A (p.Gly1815Arg) SNV Pathogenic 156289 rs121912841 GRCh37: 3:48615930-48615930
GRCh38: 3:48578497-48578497
17 COL7A1 NM_000094.3(COL7A1):c.4871del (p.Pro1624fs) Deletion Pathogenic 424629 rs1064797082 GRCh37: 3:48618721-48618721
GRCh38: 3:48581288-48581288
18 COL7A1 NM_000094.3(COL7A1):c.5924_5927del (p.Glu1975fs) Deletion Pathogenic 424627 rs1064797080 GRCh37: 3:48613111-48613114
GRCh38: 3:48575678-48575681
19 COL7A1 NM_000094.3(COL7A1):c.8278G>A (p.Gly2760Arg) SNV Pathogenic 424628 rs1064797081 GRCh37: 3:48604119-48604119
GRCh38: 3:48566686-48566686
20 COL7A1 NM_000094.3(COL7A1):c.2318_2321dup (p.Glu774delinsAspTer) Duplication Pathogenic 424626 rs1064797079 GRCh37: 3:48626421-48626422
GRCh38: 3:48588988-48588989
21 COL7A1 NM_000094.3(COL7A1):c.2989C>T (p.Gln997Ter) SNV Pathogenic 623379 rs1559423385 GRCh37: 3:48624856-48624856
GRCh38: 3:48587423-48587423
22 COL7A1 NM_000094.3(COL7A1):c.1319del (p.Glu440fs) Deletion Pathogenic 634903 rs1559435706 GRCh37: 3:48629369-48629369
GRCh38: 3:48591936-48591936
23 COL7A1 NM_000094.3(COL7A1):c.3376_3386del (p.Tyr1126fs) Deletion Pathogenic 689616 rs765699235 GRCh37: 3:48624013-48624023
GRCh38: 3:48586580-48586590
24 COL7A1 NC_000003.12:g.48589471del Deletion Pathogenic 801966 rs1336602322 GRCh37: 3:48626903-48626903
GRCh38: 3:48589470-48589470
25 COL7A1 NM_000094.3(COL7A1):c.657del (p.Gly220fs) Deletion Pathogenic 801967 rs1575494051 GRCh37: 3:48630560-48630560
GRCh38: 3:48593127-48593127
26 COL7A1 NM_000094.3(COL7A1):c.6044G>A (p.Gly2015Glu) SNV Pathogenic 17449 rs121912843 GRCh37: 3:48612908-48612908
GRCh38: 3:48575475-48575475
27 COL7A1 NM_000094.3(COL7A1):c.5797C>T (p.Arg1933Ter) SNV Pathogenic 345830 rs757415879 GRCh37: 3:48613705-48613705
GRCh38: 3:48576272-48576272
28 COL7A1 NM_000094.3(COL7A1):c.4039G>C (p.Gly1347Arg) SNV Pathogenic 17434 rs121912833 GRCh37: 3:48622175-48622175
GRCh38: 3:48584742-48584742
29 COL7A1 NM_000094.3(COL7A1):c.6091G>A (p.Gly2031Ser) SNV Pathogenic 17446 rs121912838 GRCh37: 3:48612861-48612861
GRCh38: 3:48575428-48575428
30 COL7A1 NM_000094.3(COL7A1):c.7411C>T (p.Arg2471Ter) SNV Pathogenic 17459 rs121912852 GRCh37: 3:48607737-48607737
GRCh38: 3:48570304-48570304
31 COL7A1 NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) SNV Pathogenic 29636 rs121912856 GRCh37: 3:48630971-48630971
GRCh38: 3:48593538-48593538
32 COL7A1 NM_000094.3(COL7A1):c.1A>G (p.Met1Val) SNV Pathogenic 424625 rs1064797078 GRCh37: 3:48632592-48632592
GRCh38: 3:48595159-48595159
33 COL7A1 NM_000094.3(COL7A1):c.7344G>A (p.Val2448=) SNV Pathogenic 372349 rs201728948 GRCh37: 3:48608072-48608072
GRCh38: 3:48570639-48570639
34 COL7A1 NM_000094.3(COL7A1):c.4027C>T (p.Arg1343Ter) SNV Pathogenic 503709 rs761234904 GRCh37: 3:48622187-48622187
GRCh38: 3:48584754-48584754
35 COL7A1 NM_000094.3(COL7A1):c.1637-1G>A SNV Pathogenic 345869 rs886058642 GRCh37: 3:48628250-48628250
GRCh38: 3:48590817-48590817
36 COL7A1 NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) SNV Pathogenic 29636 rs121912856 GRCh37: 3:48630971-48630971
GRCh38: 3:48593538-48593538
37 COL7A1 NM_000094.3(COL7A1):c.409C>T (p.Arg137Ter) SNV Pathogenic 449472 rs1203706188 GRCh37: 3:48630987-48630987
GRCh38: 3:48593554-48593554
38 COL7A1 NM_000094.3(COL7A1):c.5532+1G>A SNV Pathogenic 488825 rs767182886 GRCh37: 3:48615753-48615753
GRCh38: 3:48578320-48578320
39 COL7A1 NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) SNV Pathogenic 29636 rs121912856 GRCh37: 3:48630971-48630971
GRCh38: 3:48593538-48593538
40 COL7A1 NM_000094.3(COL7A1):c.4894C>T (p.Arg1632Ter) SNV Pathogenic 620088 rs751535193 GRCh37: 3:48618698-48618698
GRCh38: 3:48581265-48581265
41 COL7A1 NM_000094.3(COL7A1):c.4448G>A (p.Gly1483Asp) SNV Pathogenic 279788 rs756217590 GRCh37: 3:48620594-48620594
GRCh38: 3:48583161-48583161
42 COL7A1 NM_000094.3(COL7A1):c.5532+1G>A SNV Pathogenic 488825 rs767182886 GRCh37: 3:48615753-48615753
GRCh38: 3:48578320-48578320
43 COL7A1 NM_000094.3(COL7A1):c.5261dup (p.Gly1755fs) Duplication Pathogenic 372338 rs1057517723 GRCh37: 3:48616922-48616923
GRCh38: 3:48579489-48579490
44 COL7A1 NM_000094.3(COL7A1):c.4888C>T (p.Arg1630Ter) SNV Pathogenic 17454 rs121912847 GRCh37: 3:48618704-48618704
GRCh38: 3:48581271-48581271
45 COL7A1 NM_000094.3(COL7A1):c.4027C>T (p.Arg1343Ter) SNV Pathogenic 503709 rs761234904 GRCh37: 3:48622187-48622187
GRCh38: 3:48584754-48584754
46 COL7A1 NM_000094.3(COL7A1):c.3840del (p.Gly1281fs) Deletion Pathogenic 372332 rs757688782 GRCh37: 3:48623044-48623044
GRCh38: 3:48585611-48585611
47 COL7A1 NM_000094.3(COL7A1):c.2005C>T (p.Arg669Ter) SNV Pathogenic 374052 rs780261665 GRCh37: 3:48627691-48627691
GRCh38: 3:48590258-48590258
48 COL7A1 NM_000094.3(COL7A1):c.682+1G>A SNV Pathogenic 372329 rs775288140 GRCh37: 3:48630534-48630534
GRCh38: 3:48593101-48593101
49 COL7A1 NM_000094.3(COL7A1):c.8440C>T (p.Arg2814Ter) SNV Pathogenic 265082 rs143457874 GRCh37: 3:48603069-48603069
GRCh38: 3:48565636-48565636
50 COL7A1 NM_000094.3(COL7A1):c.7723G>A (p.Gly2575Arg) SNV Pathogenic 265078 rs760891216 GRCh37: 3:48606252-48606252
GRCh38: 3:48568819-48568819

UniProtKB/Swiss-Prot genetic disease variations for Epidermolysis Bullosa Dystrophica, Autosomal Recessive:

72 (show all 39)
# Symbol AA change Variation ID SNP ID
1 COL7A1 p.Gly1782Arg VAR_001813 rs374718902
2 COL7A1 p.Gly1982Trp VAR_001814
3 COL7A1 p.Arg2008Gly VAR_001816 rs105568033
4 COL7A1 p.Gly2025Ala VAR_001817 rs766931219
5 COL7A1 p.Gly2049Glu VAR_001821
6 COL7A1 p.Arg2063Trp VAR_001823 rs121912849
7 COL7A1 p.Gly2073Asp VAR_001825
8 COL7A1 p.Gly2569Arg VAR_001830
9 COL7A1 p.Gly2575Arg VAR_001831 rs760891216
10 COL7A1 p.Gly2653Arg VAR_001833 rs121912851
11 COL7A1 p.Gly2671Val VAR_001834
12 COL7A1 p.Gly2674Arg VAR_001835
13 COL7A1 p.Gly2749Arg VAR_001836 rs121912853
14 COL7A1 p.Met2798Lys VAR_001837 rs121912828
15 COL7A1 p.Gly1347Arg VAR_011160 rs121912833
16 COL7A1 p.Gly1604Arg VAR_011163 rs156023420
17 COL7A1 p.Gly1652Arg VAR_011164 rs143929933
18 COL7A1 p.Gly1703Glu VAR_011165 rs770304825
19 COL7A1 p.Arg1772Trp VAR_011166 rs103233532
20 COL7A1 p.Gly1812Arg VAR_011169
21 COL7A1 p.Arg2008Cys VAR_011172 rs105568033
22 COL7A1 p.Gly2009Arg VAR_011173
23 COL7A1 p.Gly2031Ser VAR_011177 rs121912838
24 COL7A1 p.Gly2132Asp VAR_011186 rs755669902
25 COL7A1 p.Gly2192Ser VAR_011187
26 COL7A1 p.Gly2263Val VAR_011190
27 COL7A1 p.Gly2287Arg VAR_011191 rs121912839
28 COL7A1 p.Gly2316Arg VAR_011192
29 COL7A1 p.Gly2366Ser VAR_011194 rs156020460
30 COL7A1 p.Gly2674Asp VAR_011196
31 COL7A1 p.Gly2740Ala VAR_011199
32 COL7A1 p.Gly2775Ser VAR_011200 rs133325931
33 COL7A1 p.Gly1845Arg VAR_064994
34 COL7A1 p.Lys1981Arg VAR_064995
35 COL7A1 p.Arg2069Cys VAR_064996 rs121912855
36 COL7A1 p.Gly2221Ala VAR_064998
37 COL7A1 p.Gly2296Glu VAR_064999
38 COL7A1 p.Gly2557Arg VAR_065000
39 COL7A1 p.Arg2622Trp VAR_065001 rs139318843

Cosmic variations for Epidermolysis Bullosa Dystrophica, Autosomal Recessive:

9 (show top 50) (show all 345)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM106059757 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8
2 COSM112354551 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>A p.A189T 17:7674966-7674966 8
3 COSM111759858 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 8
4 COSM145161899 TP53 skin,hand,carcinoma,squamous cell carcinoma c.833A>G p.Q278R 17:7673578-7673578 8
5 COSM112254266 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 8
6 COSM145019215 TP53 skin,hand,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 8
7 COSM144309924 TP53 skin,hand,carcinoma,squamous cell carcinoma c.701G>A p.R234H 17:7673802-7673802 8
8 COSM144087977 TP53 skin,hand,carcinoma,squamous cell carcinoma c.379G>A p.E127K 17:7673764-7673764 8
9 COSM93190386 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8
10 COSM106059965 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 8
11 COSM105621918 TP53 skin,hand,carcinoma,squamous cell carcinoma c.782+417G>A p.? 17:7673764-7673764 8
12 COSM143386984 TP53 skin,hand,carcinoma,squamous cell carcinoma c.193C>T p.Q65* 17:7676059-7676059 8
13 COSM122787283 TP53 skin,hand,carcinoma,squamous cell carcinoma c.449G>C p.R150P 17:7673775-7673775 8
14 COSM144213765 TP53 skin,hand,carcinoma,squamous cell carcinoma c.473A>G p.Q158R 17:7673578-7673578 8
15 COSM111765517 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8
16 COSM142560894 TP53 skin,hand,carcinoma,squamous cell carcinoma c.556-1G>A p.? 17:7674291-7674291 8
17 COSM87899076 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 8
18 COSM145018355 TP53 skin,hand,carcinoma,squamous cell carcinoma c.556-1G>A p.? 17:7674291-7674291 8
19 COSM143465962 TP53 skin,hand,carcinoma,squamous cell carcinoma c.448G>A p.A150T 17:7674966-7674966 8
20 COSM144651848 TP53 skin,hand,carcinoma,squamous cell carcinoma c.556-1G>A p.? 17:7674291-7674291 8
21 COSM105636071 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 8
22 COSM144311386 TP53 skin,hand,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 8
23 COSM106053786 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 8
24 COSM144757328 TP53 skin,hand,carcinoma,squamous cell carcinoma c.448G>A p.A150T 17:7674966-7674966 8
25 COSM143945161 TP53 skin,hand,carcinoma,squamous cell carcinoma c.379G>A p.E127K 17:7673764-7673764 8
26 COSM87899887 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 8
27 COSM121884502 TP53 skin,hand,carcinoma,squamous cell carcinoma c.251T>A p.V84E 17:7674884-7674884 8
28 COSM144315643 TP53 skin,hand,carcinoma,squamous cell carcinoma c.143C>A p.P48Q 17:7676109-7676109 8
29 COSM142566904 TP53 skin,hand,carcinoma,squamous cell carcinoma c.530T>A p.V177E 17:7674884-7674884 8
30 COSM111807840 TP53 skin,hand,carcinoma,squamous cell carcinoma c.845G>C p.R282P 17:7673775-7673775 8
31 COSM144652672 TP53 skin,hand,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 8
32 COSM143000079 TP53 skin,hand,carcinoma,squamous cell carcinoma c.590T>C p.V197A 17:7674941-7674941 8
33 COSM105621045 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 8
34 COSM93198616 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 8
35 COSM105627660 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 8
36 COSM144650760 TP53 skin,hand,carcinoma,squamous cell carcinoma c.701G>A p.R234H 17:7673802-7673802 8
37 COSM111909038 TP53 skin,hand,carcinoma,squamous cell carcinoma c.950A>G p.Q317R 17:7673578-7673578 8
38 COSM144087357 TP53 skin,hand,carcinoma,squamous cell carcinoma c.83-1G>A p.? 17:7674972-7674972 8
39 COSM106067323 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 8
40 COSM144014790 TP53 skin,hand,carcinoma,squamous cell carcinoma c.823G>A p.E275K 17:7673764-7673764 8
41 COSM122278245 TP53 skin,hand,carcinoma,squamous cell carcinoma c.251T>A p.V84E 17:7674884-7674884 8
42 COSM122740574 TP53 skin,hand,carcinoma,squamous cell carcinoma c.251T>A p.V84E 17:7674884-7674884 8
43 COSM105627464 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8
44 COSM112268626 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 8
45 COSM144440622 TP53 skin,hand,carcinoma,squamous cell carcinoma c.833A>G p.Q278R 17:7673578-7673578 8
46 COSM93190806 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 8
47 COSM106140358 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>C p.A189P 17:7674966-7674966 8
48 COSM142838326 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 8
49 COSM122272113 TP53 skin,hand,carcinoma,squamous cell carcinoma c.277-1G>A p.? 17:7674291-7674291 8
50 COSM111758217 TP53 skin,hand,carcinoma,squamous cell carcinoma c.818G>A p.R273H 17:7673802-7673802 8

Expression for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

Search GEO for disease gene expression data for Epidermolysis Bullosa Dystrophica, Autosomal Recessive.

Pathways for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

Pathways related to Epidermolysis Bullosa Dystrophica, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.1 MMP1 COL7A1
2
Show member pathways
11.28 MMP1 COL7A1

GO Terms for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

Biological processes related to Epidermolysis Bullosa Dystrophica, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.62 MMP1 COL7A1

Sources for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

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
Content
Loading form....