DDEB
MCID: EPD071
MIFTS: 41

Epidermolysis Bullosa Dystrophica, Autosomal Dominant (DDEB)

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

Aliases & Classifications for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

MalaCards integrated aliases for Epidermolysis Bullosa Dystrophica, Autosomal Dominant:

Name: Epidermolysis Bullosa Dystrophica, Autosomal Dominant 57 20 72
Generalized Dominant Dystrophic Epidermolysis Bullosa 20 29 6 39
Autosomal Dominant Dystrophic Epidermolysis Bullosa 12 72 15
Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type 57 72
Albopapuloid Dominant Dystrophic Epidermolysis Bullosa 57 72
Dystrophic Epidermolysis Bullosa, Autosomal Dominant 57 20
Epidermolysis Bullosa Dystrophica, Pasini Type 57 72
Dominant Dystrophic Epidermolysis Bullosa 20 29
Epidermolysis Bullosa Dystrophica, Ad 57 13
Ebdct 57 72
Ddeb 57 72
Ebdd 57 72
Autosomal Dominant Dystrophic Epidermolysis Bullosa, Pasini and Cockayne-Touraine Types 20
Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type; Ebdct 57
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa 58
Albopapuloid Dominant Dystrophic Epidermolysis Bullosa; Ebdd 57
Epidermolysis Bullosa Dystrophica, with Subcorneal Cleavage 72
Epidermolysis Bullosa Dystrophica with Subcorneal Cleavage 70
Dominant Dystrophic Epidermolysis Bullosa, Generalized 20
Ddeb, Pasini and Cockayne-Touraine Types 20
Cockayne-Touraine Disease 70
Ddeb, Generalized 20
Generalized Ddeb 58
Ddeb-Gen 20
Ebdsc 72

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant generalized dystrophic epidermolysis bullosa
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

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

Miscellaneous:
intrafamilial variability
onset at birth or infancy
blisters are precipitated by minor skin trauma
blistering and erosions tend to occur on extensor surfaces or over bony prominences
blistering frequency may decrease with age
see also recessive deb , an allelic disorder with a more severe phenotype


HPO:

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


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080224
OMIM® 57 131750
MeSH 44 D016108
ICD10 via Orphanet 33 Q81.2
UMLS via Orphanet 71 C0432322
Orphanet 58 ORPHA231568
UMLS 70 C0079136 C2675683

Summaries for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

UniProtKB/Swiss-Prot : 72 Epidermolysis bullosa dystrophica, autosomal dominant: A group of autosomal dominant 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 to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations.
Epidermolysis bullosa dystrophica, with subcorneal cleavage: A bullous skin disorder with variable sized clefts just beneath the level of the stratum corneum. Clinical features include blisters, milia, atrophic scarring, nail dystrophy, and oral and conjunctival involvement, as seen in dystrophic epidermolysis bullosa.

MalaCards based summary : Epidermolysis Bullosa Dystrophica, Autosomal Dominant, also known as generalized dominant dystrophic epidermolysis bullosa, is related to glomerulonephritis and membranoproliferative glomerulonephritis. An important gene associated with Epidermolysis Bullosa Dystrophica, Autosomal Dominant is COL7A1 (Collagen Type VII Alpha 1 Chain). Affiliated tissues include skin, and related phenotypes are dystrophic toenail and milia

Disease Ontology : 12 An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has material basis in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.

GARD : 20 Dominant dystrophic epidermolysis bullosa (DDEB) is a type of epidermolysis bullosa (EB), which is a group of rare inherited conditions in which the skin blisters extremely easily. DDEB is one of the milder forms of EB, although the severity is variable. Blisters may be present at birth, but typically appear during early childhood; occasionally they do not develop until later in life. Blisters often become more numerous and tend to occur over vulnerable sites such as knees, ankles, elbows and knuckles. In adulthood, they usually become less frequent and scars fade. Other signs and symptoms of DDEB may include dystrophic or absent nails, constipation, dental caries and swallowing problems. It is caused by mutations in the COL7A1 gene and is inherited in an autosomal dominant manner. Treatment typically includes treating blisters and avoiding infection.

OMIM® : 57 Epidermolysis bullosa dystrophica is a clinically heterogeneous disorder characterized by blistering and scarring of the skin and mucous membranes in response to mechanical force. Microscopic examination of the skin shows cleavage below the basement membrane within the papillary dermis. All forms are caused by mutation in the COL7A1 gene. Fine et al. (2000) proposed that the Cockayne-Touraine and Pasini subtypes of dystrophic epidermolysis bullosa be combined into 1 category known as 'dominant dystrophic epidermolysis bullosa' (DDEB), since both are caused by mutations in the COL7A1 gene and show overlapping clinical features. Epidermolysis bullosa simplex (see, e.g., 131800) and epidermolysis bullosa junctional (see, e.g., 226700) are clinically and genetically distinct disorders characterized by tissue separation at the levels of the basal keratinocyte layer and lamina lucida, respectively. (131750) (Updated 05-Apr-2021)

Related Diseases for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

Diseases in the Epidermolysis Bullosa Dystrophica family:

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

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

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 glomerulonephritis 30.1 C3 ALB
2 membranoproliferative glomerulonephritis 30.0 C3 ALB
3 henoch-schoenlein purpura 30.0 C3 ALB
4 iga glomerulonephritis 29.9 C3 ALB
5 epidermolysis bullosa with congenital localized absence of skin and deformity of nails 11.4
6 nonsyndromic congenital nail disorder 11.3
7 epidermolysis bullosa dystrophica 11.0
8 epidermolysis bullosa dystrophica, autosomal recessive 10.9
9 recessive dystrophic epidermolysis bullosa 10.5
10 transient bullous dermolysis of the newborn 10.3
11 epidermolysis bullosa dystrophica, pretibial 10.3
12 epidermolysis bullosa pruriginosa 10.2
13 vasculitis 10.2
14 amyloidosis 10.2
15 glomerular disease 10.2
16 constricting bands, congenital 10.2
17 proteinuria, chronic benign 10.2
18 pyloric stenosis 10.2
19 keratosis 10.2
20 calcinosis 10.2
21 purpura 10.2
22 skin disease 10.2
23 epidermolysis bullosa acquisita 10.2
24 proliferative glomerulonephritis 10.2
25 mesangial proliferative glomerulonephritis 10.2
26 47,xyy 10.2
27 erythrokeratoderma ''en cocardes'' 10.2
28 epidermolysis bullosa 10.1
29 prurigo nodularis 10.1
30 hemoglobinuria 9.9 CSF3 C3
31 paroxysmal nocturnal hemoglobinuria 9.9 CSF3 C3
32 splenic abscess 9.9 CSF3 ALB
33 miliary tuberculosis 9.9 CSF3 ALB
34 mucormycosis 9.9 CSF3 ALB
35 pneumocystosis 9.9 CSF3 ALB
36 eosinophilic gastroenteritis 9.9 CSF3 ALB
37 gastroenteritis 9.9 CSF3 ALB
38 pneumonia 9.9 CSF3 ALB
39 hypersplenism 9.9 CSF3 ALB
40 cellulitis 9.9 CSF3 ALB
41 hepatic vascular disease 9.8 CSF3 ALB
42 opportunistic mycosis 9.8 CSF3 ALB
43 appendicitis 9.8 CSF3 ALB
44 fungal infectious disease 9.8 CSF3 ALB
45 exanthem 9.8 CSF3 ALB
46 pyelonephritis 9.8 CSF3 ALB
47 pyuria 9.8 C3 ALB
48 scarlet fever 9.8 C3 ALB
49 arteriolosclerosis 9.8 C3 ALB
50 bacterial pneumonia 9.8 CSF3 ALB

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



Diseases related to Epidermolysis Bullosa Dystrophica, Autosomal Dominant

Symptoms & Phenotypes for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

Human phenotypes related to Epidermolysis Bullosa Dystrophica, Autosomal Dominant:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dystrophic toenail 58 31 frequent (33%) Frequent (79-30%) HP:0001810
2 milia 58 31 frequent (33%) Frequent (79-30%) HP:0001056
3 fragile skin 58 31 frequent (33%) Frequent (79-30%) HP:0001030
4 acral blistering 58 31 frequent (33%) Frequent (79-30%) HP:0031045
5 skin erosion 58 31 occasional (7.5%) Occasional (29-5%) HP:0200041
6 dystrophic fingernails 58 31 occasional (7.5%) Occasional (29-5%) HP:0008391
7 absent fingernail 58 31 occasional (7.5%) Occasional (29-5%) HP:0001817
8 absent toenail 58 31 occasional (7.5%) Occasional (29-5%) HP:0001802
9 atrophic scars 58 31 occasional (7.5%) Occasional (29-5%) HP:0001075
10 oral mucosal blisters 58 31 occasional (7.5%) Occasional (29-5%) HP:0200097
11 erosion of oral mucosa 58 31 occasional (7.5%) Occasional (29-5%) HP:0031446
12 recurrent loss of toenails and fingernails 58 31 occasional (7.5%) Occasional (29-5%) HP:0008390
13 abnormal blistering of the skin 58 31 Very frequent (99-80%) HP:0008066
14 nail dystrophy 58 31 Frequent (79-30%) HP:0008404
15 atypical scarring of skin 58 Very frequent (99-80%)
16 nail dysplasia 31 HP:0002164

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
milia
epidermolysis bullosa, dystrophic
blistering, recurrent
erosions
atrophic scarring
more
Skin Nails Hair Skin Electron Microscopy:
sublamina densa level of tissue separation beneath basal membrane
decreased number of anchoring fibrils at dermal-epidermal junction
hypotrophic anchoring fibrils
decreased staining for collagen vii at the dermal-epidermal junction

Skin Nails Hair Nails:
dystrophic nails
nail atrophy

Clinical features from OMIM®:

131750 (Updated 05-Apr-2021)

Drugs & Therapeutics for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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

Search NIH Clinical Center for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

Genetic Tests for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

Genetic tests related to Epidermolysis Bullosa Dystrophica, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Generalized Dominant Dystrophic Epidermolysis Bullosa 29 COL7A1
2 Dominant Dystrophic Epidermolysis Bullosa 29

Anatomical Context for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

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

40
Skin

Publications for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

Articles related to Epidermolysis Bullosa Dystrophica, Autosomal Dominant:

(show all 28)
# Title Authors PMID Year
1
EB simplex superficialis resulting from a mutation in the type VII collagen gene. 57 6
11874498 2002
2
A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa. 57 6
9892921 1998
3
Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic. 6 57
9347800 1997
4
Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen. 57 6
8170945 1994
5
Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa. 6 57
1680286 1991
6
Epidermolysis bullosa simplex superficialis. A new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome. 57 6
2653224 1989
7
Intracellular accumulation of collagen VII in cultured keratinocytes from a patient with dominant dystrophic epidermolysis bullosa. 6 61
8288900 1994
8
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. 57
16971478 2007
9
Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization. 6
16965329 2006
10
COL7A1 mutation G2037E causes epidermal retention of type VII collagen. 6
16557343 2006
11
Progress in epidermolysis bullosa: genetic classification and clinical implications. 57
15468152 2004
12
Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. 57
10827412 2000
13
Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa. 6
10084325 1999
14
Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations. 6
9856844 1998
15
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
16
Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. 57
8644729 1996
17
Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds. 57
1358979 1992
18
Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus. 57
1377750 1992
19
Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils. 57
1347297 1992
20
Autosomal dominant epidermolysis bullosa dystrophica: are the Cockayne-Touraine, the Pasini and the Bart-types different expressions of the same mutant gene? 57
3621647 1987
21
Genetic linkage analysis of epidermolysis bullosa dystrophica, Cockayne-Touraine type. 57
4028498 1985
22
Increased glycosaminoglycan accumulation as a genetic characteristic in cell cultures of one variety of dominant dystrophic epidermolysis bullosa. 57
447858 1979
23
A study of the linkage relations of epidermolysis bullosa dystrophica. 57
478556 1979
24
Electron microscopy in the early diagnosis of genetic disorders of the skin. 57
78862 1978
25
Epidermolysis bullosa dystrophica dominans (Pasini)-a primary structural defect of the anchoring fibrils. 57
1262024 1976
26
[Epidermolysis bullosa dystrophica dominans-a defect of the anchoring fibrils? (authors transl)]. 57
4788473 1973
27
Epidermolysis bullosa. 57
5859028 1965
28
[ON THE CLINICAL PICTURE AND GENETICS OF DOMINANT DYSTROPHIC HEREDITARY EPIDERMOLYSIS BULLOSA]. 57
14106978 1963

Variations for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

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

6 (show all 38)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL7A1 NM_000094.3(COL7A1):c.6118G>A (p.Gly2040Ser) SNV Pathogenic 17424 rs121912829 GRCh37: 3:48612834-48612834
GRCh38: 3:48575401-48575401
2 COL7A1 NM_000094.3(COL7A1):c.6017G>A (p.Gly2006Asp) SNV Pathogenic 17448 rs121912842 GRCh37: 3:48612935-48612935
GRCh38: 3:48575502-48575502
3 COL7A1 NM_000094.3(COL7A1):c.6044G>A (p.Gly2015Glu) SNV Pathogenic 17449 rs121912843 GRCh37: 3:48612908-48612908
GRCh38: 3:48575475-48575475
4 COL7A1 NM_000094.3(COL7A1):c.6227G>A (p.Gly2076Asp) SNV Pathogenic 17457 rs121912850 GRCh37: 3:48612549-48612549
GRCh38: 3:48575116-48575116
5 COL7A1 NM_000094.3(COL7A1):c.6900+4A>G SNV Pathogenic 374314 rs1057518706 GRCh37: 3:48610100-48610100
GRCh38: 3:48572667-48572667
6 COL7A1 NM_000094.3(COL7A1):c.6110G>A (p.Gly2037Glu) SNV Pathogenic 17453 rs121912846 GRCh37: 3:48612842-48612842
GRCh38: 3:48575409-48575409
7 COL7A1 NM_000094.3(COL7A1):c.7344G>A (p.Val2448=) SNV Pathogenic 372349 rs201728948 GRCh37: 3:48608072-48608072
GRCh38: 3:48570639-48570639
8 COL7A1 NM_000094.3(COL7A1):c.4027C>T (p.Arg1343Ter) SNV Pathogenic 503709 rs761234904 GRCh37: 3:48622187-48622187
GRCh38: 3:48584754-48584754
9 COL7A1 NM_000094.3(COL7A1):c.1637-1G>A SNV Pathogenic 345869 rs886058642 GRCh37: 3:48628250-48628250
GRCh38: 3:48590817-48590817
10 COL7A1 NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) SNV Pathogenic 29636 rs121912856 GRCh37: 3:48630971-48630971
GRCh38: 3:48593538-48593538
11 COL7A1 NM_000094.3(COL7A1):c.409C>T (p.Arg137Ter) SNV Pathogenic 449472 rs1203706188 GRCh37: 3:48630987-48630987
GRCh38: 3:48593554-48593554
12 COL7A1 NM_000094.4(COL7A1):c.6127G>A SNV Pathogenic 17438 rs121912836 GRCh37: 3:48612825-48612825
GRCh38: 3:48575392-48575392
13 COL7A1 NM_000094.4(COL7A1):c.6100G>A SNV Pathogenic 17450 rs121912844 GRCh37: 3:48612852-48612852
GRCh38: 3:48575419-48575419
14 COL7A1 NM_000094.4(COL7A1):c.6859G>A SNV Pathogenic 17447 rs121912839 GRCh37: 3:48610145-48610145
GRCh38: 3:48572712-48572712
15 COL7A1 NM_000094.4(COL7A1):c.6082G>A SNV Pathogenic 379476 rs762162799 GRCh37: 3:48612870-48612870
GRCh38: 3:48575437-48575437
16 COL7A1 NM_000094.3(COL7A1):c.1732C>T (p.Arg578Ter) SNV Pathogenic 372330 rs144023803 GRCh37: 3:48628154-48628154
GRCh38: 3:48590721-48590721
17 COL7A1 NM_000094.4(COL7A1):c.1573C>T SNV Pathogenic 279785 rs368007918 GRCh37: 3:48628960-48628960
GRCh38: 3:48591527-48591527
18 COL7A1 NM_000094.4(COL7A1):c.6205C>T SNV Pathogenic 17463 rs121912855 GRCh37: 3:48612651-48612651
GRCh38: 3:48575218-48575218
19 COL7A1 NM_000094.4(COL7A1):c.5820G>A SNV Likely pathogenic 431810 rs200972872 GRCh37: 3:48613682-48613682
GRCh38: 3:48576249-48576249
20 COL7A1 NM_000094.3(COL7A1):c.6696del (p.Gly2233fs) Deletion Likely pathogenic 804438 rs749256529 GRCh37: 3:48610625-48610625
GRCh38: 3:48573192-48573192
21 COL7A1 NM_000094.3(COL7A1):c.7128G>A (p.Pro2376=) SNV Uncertain significance 722179 rs776459582 GRCh37: 3:48608570-48608570
GRCh38: 3:48571137-48571137
22 COL7A1 NM_000094.3(COL7A1):c.2969G>A (p.Arg990Gln) SNV Uncertain significance 225324 rs568498471 GRCh37: 3:48624876-48624876
GRCh38: 3:48587443-48587443
23 COL7A1 NM_000094.3(COL7A1):c.2392G>A (p.Gly798Arg) SNV Uncertain significance 225325 rs202237834 GRCh37: 3:48626351-48626351
GRCh38: 3:48588918-48588918
24 COL7A1 NM_000094.3(COL7A1):c.4118C>T (p.Ser1373Leu) SNV Uncertain significance 225323 rs140403507 GRCh37: 3:48621919-48621919
GRCh38: 3:48584486-48584486
25 COL7A1 NM_000094.4(COL7A1):c.1907G>T SNV Uncertain significance 502658 rs116005007 GRCh37: 3:48627789-48627789
GRCh38: 3:48590356-48590356
26 COL7A1 NM_000094.4(COL7A1):c.7068+5G>A SNV Uncertain significance 689753 rs779875751 GRCh37: 3:48609429-48609429
GRCh38: 3:48571996-48571996
27 COL7A1 NM_000094.3(COL7A1):c.6091G>A (p.Gly2031Ser) SNV Uncertain significance 17446 rs121912838 GRCh37: 3:48612861-48612861
GRCh38: 3:48575428-48575428
28 COL7A1 NM_000094.3(COL7A1):c.7416C>T (p.Gly2472=) SNV Uncertain significance 766356 rs142651194 GRCh37: 3:48607732-48607732
GRCh38: 3:48570299-48570299
29 COL7A1 NM_000094.3(COL7A1):c.2679G>A (p.Ala893=) SNV Likely benign 794000 rs374261595 GRCh37: 3:48625746-48625746
GRCh38: 3:48588313-48588313
30 COL7A1 NM_000094.3(COL7A1):c.6502-10C>G SNV Likely benign 757202 rs200193957 GRCh37: 3:48611333-48611333
GRCh38: 3:48573900-48573900
31 COL7A1 NM_000094.3(COL7A1):c.3605G>A (p.Arg1202His) SNV Likely benign 713936 rs149011081 GRCh37: 3:48623625-48623625
GRCh38: 3:48586192-48586192
32 COL7A1 NM_000094.3(COL7A1):c.2367C>T (p.Ser789=) SNV Likely benign 721147 rs139521707 GRCh37: 3:48626376-48626376
GRCh38: 3:48588943-48588943
33 COL7A1 NM_000094.3(COL7A1):c.7380+8G>A SNV Likely benign 752516 rs560853464 GRCh37: 3:48607890-48607890
GRCh38: 3:48570457-48570457
34 COL7A1 NM_000094.3(COL7A1):c.4968G>A (p.Glu1656=) SNV Likely benign 752075 rs779192809 GRCh37: 3:48618327-48618327
GRCh38: 3:48580894-48580894
35 COL7A1 NM_000094.3(COL7A1):c.4517G>A (p.Arg1506Gln) SNV Benign 751224 rs372793584 GRCh37: 3:48620447-48620447
GRCh38: 3:48583014-48583014
36 COL7A1 NM_000094.3(COL7A1):c.4222C>T (p.Arg1408Trp) SNV Benign 764356 rs143126677 GRCh37: 3:48621470-48621470
GRCh38: 3:48584037-48584037
37 COL7A1 NM_000094.3(COL7A1):c.7353T>C (p.Pro2451=) SNV Benign 345809 rs139461888 GRCh37: 3:48607925-48607925
GRCh38: 3:48570492-48570492
38 COL7A1 NM_000094.3(COL7A1):c.7313C>G (p.Pro2438Arg) SNV Benign 709194 rs185142403 GRCh37: 3:48608103-48608103
GRCh38: 3:48570670-48570670

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

72 (show all 27)
# Symbol AA change Variation ID SNP ID
1 COL7A1 p.Gly1557Arg VAR_001812
2 COL7A1 p.Gly2003Arg VAR_001815 rs121912832
3 COL7A1 p.Gly2034Arg VAR_001818 rs121912844
4 COL7A1 p.Gly2040Ser VAR_001819 rs121912829
5 COL7A1 p.Gly2043Arg VAR_001820 rs121912836
6 COL7A1 p.Gly2055Glu VAR_001822 rs155385467
7 COL7A1 p.Gly2076Asp VAR_001826 rs121912850
8 COL7A1 p.Gly2079Glu VAR_001827
9 COL7A1 p.Gly1522Glu VAR_011162 rs387906605
10 COL7A1 p.Gly1776Arg VAR_011167
11 COL7A1 p.Gly2006Ala VAR_011170
12 COL7A1 p.Gly2006Asp VAR_011171 rs121912842
13 COL7A1 p.Gly2015Glu VAR_011174 rs121912843
14 COL7A1 p.Gly2028Ala VAR_011175
15 COL7A1 p.Gly2028Arg VAR_011176 rs762162799
16 COL7A1 p.Gly2034Trp VAR_011178
17 COL7A1 p.Gly2037Glu VAR_011179 rs121912846
18 COL7A1 p.Gly2040Asp VAR_011180
19 COL7A1 p.Gly2040Val VAR_011181
20 COL7A1 p.Gly2043Trp VAR_011182 rs121912836
21 COL7A1 p.Gly2046Val VAR_011183
22 COL7A1 p.Gly2064Arg VAR_011184 rs866061439
23 COL7A1 p.Gly2079Arg VAR_011185
24 COL7A1 p.Gly2207Arg VAR_011188
25 COL7A1 p.Gly2713Asp VAR_011197 rs369591910
26 COL7A1 p.Arg2791Trp VAR_011201 rs142566193
27 COL7A1 p.Gly2070Arg VAR_064997

Expression for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

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

Pathways for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

GO Terms for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.46 CSF3 COL7A1 C3 ALB
2 blood microparticle GO:0072562 9.26 C3 ALB
3 extracellular space GO:0005615 9.26 CSF3 COL7A1 C3 ALB
4 endoplasmic reticulum lumen GO:0005788 8.8 COL7A1 C3 ALB

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of endopeptidase activity GO:0010951 8.62 COL7A1 C3

Sources for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

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
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