MCID: EPD076
MIFTS: 45

Epidermolysis Bullosa Dystrophica, Autosomal Recessive

Categories: Genetic diseases, Eye diseases, Skin diseases, Fetal diseases, Rare 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 75 40
Epidermolysis Bullosa Dystrophica, Generalized Severe, Autosomal Recessive 57 75
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Modifier of 57 6
Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type 57 75
Ebd Inversa 57 13
Rdeb 57 75
Ebr1 57 75
Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type 59
Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis 59
Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type; Ebr1 57
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa 59
Dystrophic Epidermolysis Bullosa, Autosomal Recessive 57
Autosomal Recessive Dystrophic Epidermolysis Bullosa 75
Recessive Dystrophic Epidermolysis Bullosa Inversa 59
Inverse Recessive Dystrophic Epidermolysis Bullosa 59
Dystrophic Epidermolysis Bullosa Inversa 59
Epidermolysis Bullosa Dystrophica, Ar 57
Rdeb, Hallopeau-Siemens Type 59
Hallopeau-Siemens Disease 73
Rdeb Generalisata Gravis 59
Severe Generalized Rdeb 59
Rdeb-Sev Gen 59
Inverse Rdeb 59
Rdeb-I 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

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


HPO:

32
epidermolysis bullosa dystrophica, autosomal recessive:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



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)

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

UniProtKB/Swiss-Prot : 75 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 31.0 COL7A1 MMP1
2 epidermolysis bullosa dystrophica 29.0 COL7A1 MMP1
3 recessive dystrophic epidermolysis bullosa-generalized other 12.1
4 centripetalis recessive dystrophic epidermolysis bullosa 11.0
5 epidermolysis bullosa 10.1
6 hepatitis 9.9
7 amyloidosis 9.9
8 epidermolysis bullosa pruriginosa 9.3 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Epidermolysis Bullosa Dystrophica, Autosomal Recessive:

59 32 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002015
2 constipation 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0002019
3 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
4 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
5 flexion contracture 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001371
6 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
7 nephropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000112
8 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
9 nail dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008404
10 abnormal blistering of the skin 59 32 Very frequent (99-80%),Very frequent (99-80%) HP:0008066
11 corneal erosion 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0200020
12 growth delay 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001510
13 keratitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000491
14 narrow mouth 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0000160
15 abnormality of the vagina 59 32 frequent (33%) Frequent (79-30%) HP:0000142
16 stenosis of the external auditory canal 59 32 occasional (7.5%) Occasional (29-5%) HP:0000402
17 dilated cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001644
18 recurrent skin infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0001581
19 skin erosion 59 32 hallmark (90%) Very frequent (99-80%) HP:0200041
20 abnormality of the anus 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0004378
21 squamous cell carcinoma of the skin 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0006739
22 microglossia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000171
23 ankyloglossia 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0010296
24 oral mucosal blisters 59 32 hallmark (90%) Very frequent (99-80%) HP:0200097
25 milia 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001056
26 atrophic scars 59 32 hallmark (90%) Very frequent (99-80%) HP:0001075
27 tongue atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0012473
28 esophageal stricture 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002043
29 mitten deformity 59 32 Frequent (79-30%) HP:0004057
30 osteopenia 59 Frequent (79-30%)
31 carious teeth 59 Very frequent (99-80%)
32 delayed puberty 59 Frequent (79-30%)
33 osteoporosis 59 Frequent (79-30%)
34 pruritus 59 Very frequent (99-80%)
35 progressive visual loss 59 Frequent (79-30%)
36 atypical scarring of skin 59 Very frequent (99-80%)
37 alopecia 32 HP:0001596
38 blepharitis 59 Frequent (79-30%)
39 loss of eyelashes 59 Frequent (79-30%)
40 visual loss 59 Frequent (79-30%)
41 conjunctivitis 32 HP:0000509
42 nail dysplasia 32 HP:0002164
43 ectropion 59 Frequent (79-30%)
44 squamous cell carcinoma 32 HP:0002860
45 hypoalbuminemia 59 Occasional (29-5%)
46 spontaneous esophageal perforation 32 HP:0005203
47 absent toenail 59 Very frequent (99-80%)
48 absent fingernail 59 Very frequent (99-80%)
49 hypoplasia of dental enamel 32 HP:0006297
50 dermal atrophy 59 Very frequent (99-80%)

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 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Imidacloprid Vet_approved Phase 1, Phase 2 105827-78-9 86418
2 Gentamicins Phase 1, Phase 2,Phase 2,Not Applicable
3 Anesthetics Phase 1, Phase 2
4 Anesthetics, General Phase 1, Phase 2
5 Anti-Bacterial Agents Phase 1, Phase 2,Phase 2,Not Applicable
6 Antibiotics, Antitubercular Phase 1, Phase 2,Not Applicable
7 Anti-Infective Agents Phase 1, Phase 2,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
alemtuzumab Approved, Investigational Early Phase 1 216503-57-0
13
Fludarabine Approved Early Phase 1,Not Applicable 21679-14-1, 75607-67-9 30751
14
Heparin Approved, Investigational 9005-49-6 772 46507594
15
Lorazepam Approved Early Phase 1 846-49-1 3958
16
Busulfan Approved, Investigational Early Phase 1,Not Applicable 55-98-1 2478
17
Tacrolimus Approved, Investigational Early Phase 1 104987-11-3 445643 439492
18
Edetic Acid Approved, Vet_approved 60-00-4, 62-33-9 6049
19
Pentetic acid Approved 67-43-6
20
Petrolatum Approved, Investigational Not Applicable 8009-03-8
21
Cyclophosphamide Approved, Investigational Not Applicable 50-18-0, 6055-19-2 2907
22 calcium heparin
23 Antibodies
24 Immunoglobulins
25 Autoantibodies
26 Alkylating Agents Not Applicable
27 Immunosuppressive Agents Not Applicable
28 Antirheumatic Agents Not Applicable
29 Antimetabolites Not Applicable
30 Antimetabolites, Antineoplastic Not Applicable
31 Antineoplastic Agents, Alkylating 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 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)
3 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa Patients With Nonsense Mutations Recruiting NCT03012191 Phase 1, Phase 2 Gentamicin Sulfate
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 Epidermolysis Bullosa Dystrophica, Autosomal Recessive

Genetic Tests for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

Anatomical Context for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

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

41
Skin, Eye, Tongue

Publications for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

Articles related to Epidermolysis Bullosa Dystrophica, Autosomal Recessive:

# Title Authors Year
1
Maintenance Hemodialysis Using Native Arteriovenous Fistula in a Patient with Severe Generalized Recessive Dystrophic Epidermolysis Bullosa. ( 27722157 )
2016
2
Novel COL7A1 splice site mutation in severe generalized recessive dystrophic epidermolysis bullosa. ( 24533879 )
2014
3
Nutritional outcome in children with severe generalized recessive dystrophic epidermolysis bullosa: a short- and long-term evaluation of gastrostomy and enteral feeding. ( 21895617 )
2012
4
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:

75 (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 rs1055680335Epidermolysis
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
18 COL7A1 p.Gly1703Glu VAR_011165 rs770304825
19 COL7A1 p.Arg1772Trp VAR_011166 rs1032335328Epidermolysis
20 COL7A1 p.Gly1812Arg VAR_011169
21 COL7A1 p.Arg2008Cys VAR_011172
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
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 69)
# 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 COL7A1, 1-BP DEL, 5818C deletion Pathogenic
4 COL7A1 NM_000094.3(COL7A1): c.8393T> A (p.Met2798Lys) single nucleotide variant Pathogenic rs121912828 GRCh37 Chromosome 3, 48603714: 48603714
5 COL7A1 NM_000094.3(COL7A1): c.8393T> A (p.Met2798Lys) single nucleotide variant Pathogenic rs121912828 GRCh38 Chromosome 3, 48566281: 48566281
6 COL7A1 COL7A1, 1-BP INS, 2470G insertion Pathogenic
7 COL7A1 COL7A1, 1-BP DEL, 3858G deletion Pathogenic
8 COL7A1 NM_000094.3(COL7A1): c.933C> A (p.Tyr311Ter) single nucleotide variant Pathogenic rs121912830 GRCh37 Chromosome 3, 48630046: 48630046
9 COL7A1 NM_000094.3(COL7A1): c.933C> A (p.Tyr311Ter) single nucleotide variant Pathogenic rs121912830 GRCh38 Chromosome 3, 48592613: 48592613
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.6187C> T (p.Arg2063Trp) single nucleotide variant Pathogenic rs121912849 GRCh37 Chromosome 3, 48612669: 48612669
19 COL7A1 NM_000094.3(COL7A1): c.6187C> T (p.Arg2063Trp) single nucleotide variant Pathogenic rs121912849 GRCh38 Chromosome 3, 48575236: 48575236
20 COL7A1 NM_000094.3(COL7A1): c.7957G> A (p.Gly2653Arg) single nucleotide variant Pathogenic rs121912851 GRCh37 Chromosome 3, 48605169: 48605169
21 COL7A1 NM_000094.3(COL7A1): c.7957G> A (p.Gly2653Arg) single nucleotide variant Pathogenic rs121912851 GRCh38 Chromosome 3, 48567736: 48567736
22 COL7A1 NM_000094.3(COL7A1): c.7411C> T (p.Arg2471Ter) single nucleotide variant Pathogenic rs121912852 GRCh37 Chromosome 3, 48607737: 48607737
23 COL7A1 NM_000094.3(COL7A1): c.7411C> T (p.Arg2471Ter) single nucleotide variant Pathogenic rs121912852 GRCh38 Chromosome 3, 48570304: 48570304
24 COL7A1 NM_000094.3(COL7A1): c.8245G> A (p.Gly2749Arg) single nucleotide variant Pathogenic rs121912853 GRCh37 Chromosome 3, 48604152: 48604152
25 COL7A1 NM_000094.3(COL7A1): c.8245G> A (p.Gly2749Arg) single nucleotide variant Pathogenic rs121912853 GRCh38 Chromosome 3, 48566719: 48566719
26 COL7A1 NM_000094.3(COL7A1): c.706C> T (p.Arg236Ter) single nucleotide variant Pathogenic rs121912854 GRCh37 Chromosome 3, 48630348: 48630348
27 COL7A1 NM_000094.3(COL7A1): c.706C> T (p.Arg236Ter) single nucleotide variant Pathogenic rs121912854 GRCh38 Chromosome 3, 48592915: 48592915
28 COL7A1 NM_000094.3(COL7A1): c.5443G> A (p.Gly1815Arg) single nucleotide variant Pathogenic rs121912841 GRCh38 Chromosome 3, 48578497: 48578497
29 COL7A1 NM_000094.3(COL7A1): c.5443G> A (p.Gly1815Arg) single nucleotide variant Pathogenic rs121912841 GRCh37 Chromosome 3, 48615930: 48615930
30 COL7A1 NM_000094.3(COL7A1): c.4980+1G> C single nucleotide variant Likely pathogenic rs730880285 GRCh38 Chromosome 3, 48580881: 48580881
31 COL7A1 NM_000094.3(COL7A1): c.4980+1G> C single nucleotide variant Likely pathogenic rs730880285 GRCh37 Chromosome 3, 48618314: 48618314
32 COL7A1 NM_000094.3(COL7A1): c.3504delC (p.Leu1169Terfs) deletion Likely pathogenic rs730880286 GRCh38 Chromosome 3, 48586378: 48586378
33 COL7A1 NM_000094.3(COL7A1): c.3504delC (p.Leu1169Terfs) deletion Likely pathogenic rs730880286 GRCh37 Chromosome 3, 48623811: 48623811
34 COL7A1 NM_000094.3(COL7A1): c.8371C> T (p.Arg2791Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs142566193 GRCh37 Chromosome 3, 48603736: 48603736
35 COL7A1 NM_000094.3(COL7A1): c.8371C> T (p.Arg2791Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs142566193 GRCh38 Chromosome 3, 48566303: 48566303
36 COL7A1 NM_000094.3(COL7A1): c.5000G> A (p.Gly1667Glu) single nucleotide variant Uncertain significance rs864321654 GRCh38 Chromosome 3, 48580633: 48580633
37 COL7A1 NM_000094.3(COL7A1): c.5000G> A (p.Gly1667Glu) single nucleotide variant Uncertain significance rs864321654 GRCh37 Chromosome 3, 48618066: 48618066
38 COL7A1 NM_000094.3(COL7A1): c.4118C> T (p.Ser1373Leu) single nucleotide variant Uncertain significance rs140403507 GRCh38 Chromosome 3, 48584486: 48584486
39 COL7A1 NM_000094.3(COL7A1): c.4118C> T (p.Ser1373Leu) single nucleotide variant Uncertain significance rs140403507 GRCh37 Chromosome 3, 48621919: 48621919
40 COL7A1 NM_000094.3(COL7A1): c.2969G> A (p.Arg990Gln) single nucleotide variant Uncertain significance rs568498471 GRCh37 Chromosome 3, 48624876: 48624876
41 COL7A1 NM_000094.3(COL7A1): c.2969G> A (p.Arg990Gln) single nucleotide variant Uncertain significance rs568498471 GRCh38 Chromosome 3, 48587443: 48587443
42 COL7A1 NM_000094.3(COL7A1): c.2392G> A (p.Gly798Arg) single nucleotide variant Uncertain significance rs202237834 GRCh37 Chromosome 3, 48626351: 48626351
43 COL7A1 NM_000094.3(COL7A1): c.2392G> A (p.Gly798Arg) single nucleotide variant Uncertain significance rs202237834 GRCh38 Chromosome 3, 48588918: 48588918
44 COL7A1 NM_000094.3(COL7A1): c.8440C> T (p.Arg2814Ter) single nucleotide variant Pathogenic rs143457874 GRCh37 Chromosome 3, 48603069: 48603069
45 COL7A1 NM_000094.3(COL7A1): c.8440C> T (p.Arg2814Ter) single nucleotide variant Pathogenic rs143457874 GRCh38 Chromosome 3, 48565636: 48565636
46 COL7A1 NM_000094.3(COL7A1): c.3971delT (p.Leu1324Glnfs) deletion Pathogenic rs886044621 GRCh37 Chromosome 3, 48622473: 48622473
47 COL7A1 NM_000094.3(COL7A1): c.3971delT (p.Leu1324Glnfs) deletion Pathogenic rs886044621 GRCh38 Chromosome 3, 48585040: 48585040
48 COL7A1 NM_000094.3(COL7A1): c.1732C> T (p.Arg578Ter) single nucleotide variant Pathogenic rs144023803 GRCh37 Chromosome 3, 48628154: 48628154
49 COL7A1 NM_000094.3(COL7A1): c.1732C> T (p.Arg578Ter) single nucleotide variant Pathogenic rs144023803 GRCh38 Chromosome 3, 48590721: 48590721
50 COL7A1 NM_000094.3(COL7A1): c.682+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs775288140 GRCh37 Chromosome 3, 48630534: 48630534

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
12.09 COL7A1 MMP1
2
Show member pathways
11.28 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

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

# Name GO ID Score Top Affiliating Genes
1 collagen catabolic process GO:0030574 8.62 COL7A1 MMP1

Sources for Epidermolysis Bullosa Dystrophica, Autosomal Recessive

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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