RDEB
MCID: EPD076
MIFTS: 46

Epidermolysis Bullosa Dystrophica, Autosomal Recessive (RDEB)

Categories: 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 58 76 41
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Modifier of 58 30 6
Epidermolysis Bullosa Dystrophica, Generalized Severe, Autosomal Recessive 58 76
Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type 58 76
Ebd Inversa 58 13
Rdeb 58 76
Ebr1 58 76
Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type 60
Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis 60
Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type; Ebr1 58
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa 60
Dystrophic Epidermolysis Bullosa, Autosomal Recessive 58
Autosomal Recessive Dystrophic Epidermolysis Bullosa 76
Recessive Dystrophic Epidermolysis Bullosa Inversa 60
Inverse Recessive Dystrophic Epidermolysis Bullosa 60
Dystrophic Epidermolysis Bullosa Inversa 60
Epidermolysis Bullosa Dystrophica, Ar 58
Rdeb, Hallopeau-Siemens Type 60
Hallopeau-Siemens Disease 74
Rdeb Generalisata Gravis 60
Severe Generalized Rdeb 60
Rdeb-Sev Gen 60
Inverse Rdeb 60
Rdeb-I 60

Characteristics:

Orphanet epidemiological data:

60
recessive dystrophic epidermolysis bullosa inversa
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
severe generalized recessive dystrophic epidermolysis bullosa
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (United States),<1/1000000 (United Kingdom); Age of onset: Infancy,Neonatal; Age of death: adult;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
epidermolysis bullosa dystrophica, autosomal recessive:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

OMIM : 58 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)

MalaCards based summary : Epidermolysis Bullosa Dystrophica, Autosomal Recessive, also known as epidermolysis bullosa dystrophica, autosomal recessive, modifier of, is related to recessive dystrophic epidermolysis bullosa and epidermolysis bullosa dystrophica, 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 Pregabalin and Calcium have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and eye, and related phenotypes are dysphagia and constipation

UniProtKB/Swiss-Prot : 76 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

Diseases in the Epidermolysis Bullosa Dystrophica family:

Epidermolysis Bullosa Dystrophica, Autosomal Dominant Epidermolysis Bullosa Dystrophica, Autosomal Recessive

Diseases related to Epidermolysis Bullosa Dystrophica, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 recessive dystrophic epidermolysis bullosa 32.0 COL7A1 MMP1
2 epidermolysis bullosa dystrophica 30.0 COL7A1 MMP1
3 recessive dystrophic epidermolysis bullosa-generalized other 12.3
4 centripetalis recessive dystrophic epidermolysis bullosa 11.2
5 esophageal cancer 10.4
6 epidermolysis bullosa 10.3
7 squamous cell carcinoma 10.3
8 arteriovenous fistula 10.3
9 amyloidosis 10.1
10 epidermolysis bullosa pruriginosa 9.6 COL7A1 MMP1

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:

60 33 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002015
2 constipation 60 33 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0002019
3 carious teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000670
4 flexion contracture 60 33 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0001371
5 abnormal blistering of the skin 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008066
6 pruritus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000989
7 narrow mouth 60 33 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0000160
8 skin erosion 60 33 hallmark (90%) Very frequent (99-80%) HP:0200041
9 abnormality of the anus 60 33 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0004378
10 squamous cell carcinoma of the skin 60 33 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0006739
11 absent toenail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001802
12 microglossia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000171
13 absent fingernail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001817
14 refractory anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0005505
15 dermal atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0004334
16 ankyloglossia 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0010296
17 oral mucosal blisters 60 33 hallmark (90%) Very frequent (99-80%) HP:0200097
18 milia 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001056
19 atrophic scars 60 33 hallmark (90%) Very frequent (99-80%) HP:0001075
20 tongue atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0012473
21 esophageal stricture 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002043
22 osteopenia 60 33 frequent (33%) Frequent (79-30%) HP:0000938
23 delayed puberty 60 33 frequent (33%) Frequent (79-30%) HP:0000823
24 osteoporosis 60 33 frequent (33%) Frequent (79-30%) HP:0000939
25 anemia 60 33 frequent (33%) Frequent (79-30%) HP:0001903
26 nail dystrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008404
27 corneal erosion 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0200020
28 progressive visual loss 60 33 frequent (33%) Frequent (79-30%) HP:0000529
29 blepharitis 60 33 frequent (33%) Frequent (79-30%) HP:0000498
30 loss of eyelashes 60 33 frequent (33%) Frequent (79-30%) HP:0011457
31 ectropion 60 33 frequent (33%) Frequent (79-30%) HP:0000656
32 scarring alopecia of scalp 60 33 frequent (33%) Frequent (79-30%) HP:0004552
33 mitten deformity 60 33 frequent (33%) Frequent (79-30%) HP:0004057
34 abnormal vagina morphology 33 frequent (33%) HP:0000142
35 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
36 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
37 renal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000083
38 nephropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000112
39 growth delay 60 33 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001510
40 dilated cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001644
41 keratitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000491
42 stenosis of the external auditory canal 60 33 occasional (7.5%) Occasional (29-5%) HP:0000402
43 recurrent skin infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0001581
44 hypoalbuminemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003073
45 atypical scarring of skin 60 Very frequent (99-80%)
46 alopecia 33 HP:0001596
47 visual loss 60 Frequent (79-30%)
48 conjunctivitis 33 HP:0000509
49 nail dysplasia 33 HP:0002164
50 abnormality of the vagina 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
dysphagia
constipation
esophageal blisters
esophageal strictures
anal blisters

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

Skin Nails Hair Skin:
milia
skin fragility
blistering, recurrent
erosions
mucosal lesions
more
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

Neoplasia:
squamous cell carcinoma

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

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 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pregabalin Approved, Illicit, Investigational Phase 3 148553-50-8 5486971
2
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
3 Central Nervous System Depressants Phase 3
4 Tranquilizing Agents Phase 3
5 Psychotropic Drugs Phase 3
6 Anticonvulsants Phase 3
7 Calcium, Dietary Phase 3
8 Peripheral Nervous System Agents Phase 3
9 calcium channel blockers Phase 3
10 Hormones Phase 3
11 Anti-Anxiety Agents Phase 3
12 Analgesics Phase 3
13
Imidacloprid Vet_approved Phase 1, Phase 2 105827-78-9 86418
14 Mitogens Phase 1, Phase 2
15 Gentamicins Phase 1, Phase 2,Phase 2,Not Applicable
16 Anti-Bacterial Agents Phase 1, Phase 2,Phase 2,Not Applicable
17 Anti-Infective Agents Phase 1, Phase 2,Phase 2,Not Applicable
18 Antibiotics, Antitubercular Phase 1, Phase 2,Not Applicable
19 Anesthetics Phase 1, Phase 2
20 Anesthetics, General Phase 1, Phase 2
21 Anti-Inflammatory Agents Phase 1, Phase 2
22 Protein Kinase Inhibitors Phase 1, Phase 2
23 Pharmaceutical Solutions Phase 1, Phase 2
24 ON 01910 Phase 1, Phase 2
25
Isotretinoin Approved Phase 1 4759-48-2 5282379 5538
26 Dermatologic Agents Phase 1
27
Pentetic acid Approved 67-43-6
28
Edetic Acid Approved, Vet_approved 60-00-4, 62-33-9 6049
29
Heparin Approved, Investigational 9005-49-6 46507594 772
30
Lorazepam Approved Early Phase 1 846-49-1 3958
31
Tacrolimus Approved, Investigational Early Phase 1 104987-11-3 6473866 445643 439492
32
Fludarabine Approved Early Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
33
alemtuzumab Approved, Investigational Early Phase 1 216503-57-0
34
Busulfan Approved, Investigational Early Phase 1,Not Applicable 55-98-1 2478
35
Petrolatum Approved, Investigational Not Applicable 8009-03-8
36
Cyclophosphamide Approved, Investigational Not Applicable 50-18-0, 6055-19-2 2907
37 Immunoglobulins
38 Autoantibodies
39 Antibodies
40 calcium heparin
41 Immunosuppressive Agents Not Applicable
42 Antineoplastic Agents, Alkylating Not Applicable
43 Antimetabolites, Antineoplastic Not Applicable
44 Antimetabolites Not Applicable
45 Antirheumatic Agents Not Applicable
46 Immunologic Factors Not Applicable
47 Alkylating Agents Not Applicable

Interventional clinical trials:

(show all 23)
# 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 Pregabalin Treatment for RDEB Pain and Itch Not yet recruiting NCT03928093 Phase 3 Pregabalin
3 Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis Bullosa Unknown status NCT02323789 Phase 1, Phase 2 Mesenchymal stromal cells
4 Gentamicin for RDEB Completed NCT03012191 Phase 1, Phase 2 Gentamicin Sulfate
5 A Phase 1/2 Trial of PTR-01 in Adult Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT03752905 Phase 1, Phase 2 PTR-01;Normal saline
6 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)
7 Intravenous Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT03392909 Phase 1, Phase 2 Gentamicin
8 A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Recruiting NCT02810951 Phase 1, Phase 2
9 Allogeneic ABCB5-positive Stem Cells for Treatment of Epidermolysis Bullosa Recruiting NCT03529877 Phase 1, Phase 2
10 Topical QR-313 in Recessive Dystrophic Epidermolysis Bullosa (RDEB) Due to Mutation(s) in Exon 73 of the COL7A1gene Recruiting NCT03605069 Phase 1, Phase 2 QR-313;Placebo
11 Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa Active, not recruiting NCT01263379 Phase 1, Phase 2
12 Rigosertib for RDEB-SCC Not yet recruiting NCT03786237 Phase 1, Phase 2 Rigosertib Oral Capsules / Rigosertib Oral Liquid Solution / Rigosertib Intravenous
13 Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis Bullosa Completed NCT02493816 Phase 1 Gene-modified autologous fibroblasts
14 Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00014729 Phase 1 isotretinoin
15 Autologous Transplantation of Cultured Fibroblast on Amniotic Membrane in Patients With Epidermolysis Bullosa Completed NCT01908088 Phase 1
16 Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT01874769
17 Allogeneic Stem Cell Transplantation (ALLOSCT) in Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT00881556 Early Phase 1 Reduced Intensity Transplant conditioning
18 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients Completed NCT02698735 Not Applicable Gentamicin;Placebo
19 Characteristics of Adult Patients With Recessive Dystrophic Epidermolysis Bullosa Completed NCT00904163
20 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
21 Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa Recruiting NCT01019148
22 Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene Transfer Terminated NCT00533572
23 Allogeneic Hematopoietic Stem Cell Transplant For Epidermolysis Bullosa Terminated NCT00478244 Not Applicable busulfan;cyclophosphamide;fludarabine phosphate

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 30

Anatomical Context for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

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

42
Skin, Tongue, Eye, Lung

Publications for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

Articles related to Epidermolysis Bullosa Dystrophica, Autosomal Recessive:

# Title Authors Year
1
Wound healing deficits in severe generalized recessive dystrophic epidermolysis bullosa along anticancer treatment with cetuximab. ( 30821421 )
2019
2
Maintenance Hemodialysis Using Native Arteriovenous Fistula in a Patient with Severe Generalized Recessive Dystrophic Epidermolysis Bullosa. ( 27722157 )
2016
3
Novel COL7A1 splice site mutation in severe generalized recessive dystrophic epidermolysis bullosa. ( 24533879 )
2014
4
Nutritional outcome in children with severe generalized recessive dystrophic epidermolysis bullosa: a short- and long-term evaluation of gastrostomy and enteral feeding. ( 21895617 )
2012
5
A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa. ( 18030675 )
2008
6
The role of matrix metalloproteinase polymorphisms in the rate of decline in lung function. ( 11875051 )
2002
7
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. ( 11741975 )
2002
8
A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription. ( 9850057 )
1998
9
Mitten deformity in severe generalized recessive dystrophic epidermolysis bullosa: histological, immunofluorescence, and ultrastructural study. ( 1474191 )
1992

Variations for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

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

76 (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
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
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

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

6 (show top 50) (show all 99)
# Gene Variation Type Significance SNP ID Assembly Location
1 MMP1 NM_002421.3(MMP1): c.-1673G= single nucleotide variant Pathogenic,risk factor GRCh37 Chromosome 11, 102670496: 102670496
2 MMP1 NM_002421.3(MMP1): c.-1673G= single nucleotide variant Pathogenic,risk factor GRCh38 Chromosome 11, 102799765: 102799765
3 COL7A1 NM_000094.3(COL7A1): c.8393T> A (p.Met2798Lys) single nucleotide variant Pathogenic rs121912828 GRCh37 Chromosome 3, 48603714: 48603714
4 COL7A1 NM_000094.3(COL7A1): c.8393T> A (p.Met2798Lys) single nucleotide variant Pathogenic rs121912828 GRCh38 Chromosome 3, 48566281: 48566281
5 COL7A1 COL7A1, 1-BP INS, 2470G insertion Pathogenic
6 COL7A1 COL7A1, 1-BP DEL, 3858G deletion Pathogenic
7 COL7A1 NM_000094.3(COL7A1): c.933C> A (p.Tyr311Ter) single nucleotide variant Pathogenic rs121912830 GRCh37 Chromosome 3, 48630046: 48630046
8 COL7A1 NM_000094.3(COL7A1): c.933C> A (p.Tyr311Ter) single nucleotide variant Pathogenic rs121912830 GRCh38 Chromosome 3, 48592613: 48592613
9 COL7A1 COL7A1, 1-BP DEL, 5818C deletion Pathogenic
10 COL7A1 COL7A1, IVS35DS, G-T, +1 single nucleotide variant Pathogenic
11 COL7A1 NM_000094.3(COL7A1): c.4783G> C (p.Gly1595Arg) single nucleotide variant Pathogenic rs121912840 GRCh37 Chromosome 3, 48618916: 48618916
12 COL7A1 NM_000094.3(COL7A1): c.4783G> C (p.Gly1595Arg) single nucleotide variant Pathogenic rs121912840 GRCh38 Chromosome 3, 48581483: 48581483
13 COL7A1 COL7A1, 14-BP DEL, NT33563 deletion Pathogenic
14 COL7A1 NM_000094.3(COL7A1): c.6091G> A (p.Gly2031Ser) single nucleotide variant Pathogenic rs121912838 GRCh37 Chromosome 3, 48612861: 48612861
15 COL7A1 NM_000094.3(COL7A1): c.6091G> A (p.Gly2031Ser) single nucleotide variant Pathogenic rs121912838 GRCh38 Chromosome 3, 48575428: 48575428
16 COL7A1 NM_000094.3(COL7A1): c.6859G> A (p.Gly2287Arg) single nucleotide variant Pathogenic rs121912839 GRCh37 Chromosome 3, 48610145: 48610145
17 COL7A1 NM_000094.3(COL7A1): c.6859G> A (p.Gly2287Arg) single nucleotide variant Pathogenic rs121912839 GRCh38 Chromosome 3, 48572712: 48572712
18 COL7A1 NM_000094.3(COL7A1): c.6044G> A (p.Gly2015Glu) single nucleotide variant Pathogenic rs121912843 GRCh37 Chromosome 3, 48612908: 48612908
19 COL7A1 NM_000094.3(COL7A1): c.6044G> A (p.Gly2015Glu) single nucleotide variant Pathogenic rs121912843 GRCh38 Chromosome 3, 48575475: 48575475
20 COL7A1 NM_000094.3(COL7A1): c.6187C> T (p.Arg2063Trp) single nucleotide variant Pathogenic rs121912849 GRCh37 Chromosome 3, 48612669: 48612669
21 COL7A1 NM_000094.3(COL7A1): c.6187C> T (p.Arg2063Trp) single nucleotide variant Pathogenic rs121912849 GRCh38 Chromosome 3, 48575236: 48575236
22 COL7A1 NM_000094.3(COL7A1): c.7957G> A (p.Gly2653Arg) single nucleotide variant Pathogenic rs121912851 GRCh37 Chromosome 3, 48605169: 48605169
23 COL7A1 NM_000094.3(COL7A1): c.7957G> A (p.Gly2653Arg) single nucleotide variant Pathogenic rs121912851 GRCh38 Chromosome 3, 48567736: 48567736
24 COL7A1 NM_000094.3(COL7A1): c.7411C> T (p.Arg2471Ter) single nucleotide variant Pathogenic rs121912852 GRCh37 Chromosome 3, 48607737: 48607737
25 COL7A1 NM_000094.3(COL7A1): c.7411C> T (p.Arg2471Ter) single nucleotide variant Pathogenic rs121912852 GRCh38 Chromosome 3, 48570304: 48570304
26 COL7A1 NM_000094.3(COL7A1): c.8245G> A (p.Gly2749Arg) single nucleotide variant Pathogenic rs121912853 GRCh37 Chromosome 3, 48604152: 48604152
27 COL7A1 NM_000094.3(COL7A1): c.8245G> A (p.Gly2749Arg) single nucleotide variant Pathogenic rs121912853 GRCh38 Chromosome 3, 48566719: 48566719
28 COL7A1 NM_000094.3(COL7A1): c.706C> T (p.Arg236Ter) single nucleotide variant Pathogenic rs121912854 GRCh37 Chromosome 3, 48630348: 48630348
29 COL7A1 NM_000094.3(COL7A1): c.706C> T (p.Arg236Ter) single nucleotide variant Pathogenic rs121912854 GRCh38 Chromosome 3, 48592915: 48592915
30 COL7A1 NM_000094.3(COL7A1): c.425A> G (p.Lys142Arg) single nucleotide variant Pathogenic rs121912856 GRCh37 Chromosome 3, 48630971: 48630971
31 COL7A1 NM_000094.3(COL7A1): c.425A> G (p.Lys142Arg) single nucleotide variant Pathogenic rs121912856 GRCh38 Chromosome 3, 48593538: 48593538
32 COL7A1 NM_000094.3(COL7A1): c.5443G> A (p.Gly1815Arg) single nucleotide variant Pathogenic rs121912841 GRCh38 Chromosome 3, 48578497: 48578497
33 COL7A1 NM_000094.3(COL7A1): c.5443G> A (p.Gly1815Arg) single nucleotide variant Pathogenic rs121912841 GRCh37 Chromosome 3, 48615930: 48615930
34 COL7A1 NM_000094.3(COL7A1): c.4980+1G> C single nucleotide variant Likely pathogenic rs730880285 GRCh38 Chromosome 3, 48580881: 48580881
35 COL7A1 NM_000094.3(COL7A1): c.4980+1G> C single nucleotide variant Likely pathogenic rs730880285 GRCh37 Chromosome 3, 48618314: 48618314
36 COL7A1 NM_000094.3(COL7A1): c.3504delC (p.Leu1169Terfs) deletion Likely pathogenic rs730880286 GRCh38 Chromosome 3, 48586378: 48586378
37 COL7A1 NM_000094.3(COL7A1): c.3504delC (p.Leu1169Terfs) deletion Likely pathogenic rs730880286 GRCh37 Chromosome 3, 48623811: 48623811
38 COL7A1 NM_000094.3(COL7A1): c.8371C> T (p.Arg2791Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs142566193 GRCh37 Chromosome 3, 48603736: 48603736
39 COL7A1 NM_000094.3(COL7A1): c.8371C> T (p.Arg2791Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs142566193 GRCh38 Chromosome 3, 48566303: 48566303
40 COL7A1 NM_000094.3(COL7A1): c.5000G> A (p.Gly1667Glu) single nucleotide variant Uncertain significance rs864321654 GRCh38 Chromosome 3, 48580633: 48580633
41 COL7A1 NM_000094.3(COL7A1): c.5000G> A (p.Gly1667Glu) single nucleotide variant Uncertain significance rs864321654 GRCh37 Chromosome 3, 48618066: 48618066
42 COL7A1 NM_000094.3(COL7A1): c.4118C> T (p.Ser1373Leu) single nucleotide variant Uncertain significance rs140403507 GRCh38 Chromosome 3, 48584486: 48584486
43 COL7A1 NM_000094.3(COL7A1): c.4118C> T (p.Ser1373Leu) single nucleotide variant Uncertain significance rs140403507 GRCh37 Chromosome 3, 48621919: 48621919
44 COL7A1 NM_000094.3(COL7A1): c.2969G> A (p.Arg990Gln) single nucleotide variant Uncertain significance rs568498471 GRCh37 Chromosome 3, 48624876: 48624876
45 COL7A1 NM_000094.3(COL7A1): c.2969G> A (p.Arg990Gln) single nucleotide variant Uncertain significance rs568498471 GRCh38 Chromosome 3, 48587443: 48587443
46 COL7A1 NM_000094.3(COL7A1): c.2392G> A (p.Gly798Arg) single nucleotide variant Uncertain significance rs202237834 GRCh37 Chromosome 3, 48626351: 48626351
47 COL7A1 NM_000094.3(COL7A1): c.2392G> A (p.Gly798Arg) single nucleotide variant Uncertain significance rs202237834 GRCh38 Chromosome 3, 48588918: 48588918
48 COL7A1 NM_000094.3(COL7A1): c.3830C> T (p.Pro1277Leu) single nucleotide variant Benign/Likely benign rs35761247 GRCh38 Chromosome 3, 48585691: 48585691
49 COL7A1 NM_000094.3(COL7A1): c.3830C> T (p.Pro1277Leu) single nucleotide variant Benign/Likely benign rs35761247 GRCh37 Chromosome 3, 48623124: 48623124
50 COL7A1 NM_000094.3(COL7A1): c.1784C> T (p.Pro595Leu) single nucleotide variant Benign rs2228561 GRCh38 Chromosome 3, 48590581: 48590581

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
12.29 COL7A1 MMP1
2
Show member pathways
11.28 COL7A1 MMP1
3
Show member pathways
11.06 COL7A1 MMP1

GO Terms for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.62 COL7A1 MMP1

Sources for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

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