EBDSC
MCID: EPD071
MIFTS: 28

Epidermolysis Bullosa Dystrophica, Autosomal Dominant (EBDSC)

Categories: 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 58 76
Autosomal Dominant Dystrophic Epidermolysis Bullosa 12 76 15
Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type 58 76
Albopapuloid Dominant Dystrophic Epidermolysis Bullosa 58 76
Epidermolysis Bullosa Dystrophica, Pasini Type 58 76
Epidermolysis Bullosa Dystrophica, Ad 58 13
Ebdct 58 76
Ddeb 58 76
Ebdd 58 76
Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type; Ebdct 58
Albopapuloid Dominant Dystrophic Epidermolysis Bullosa; Ebdd 58
Epidermolysis Bullosa Dystrophica, with Subcorneal Cleavage 76
Epidermolysis Bullosa Dystrophica with Subcorneal Cleavage 74
Dystrophic Epidermolysis Bullosa, Autosomal Dominant 58
Cockayne-Touraine Disease 74
Ebdsc 76

Characteristics:

OMIM:

58
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:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0080224
OMIM 58 131750
MeSH 45 D016108

Summaries for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

OMIM : 58 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)

MalaCards based summary : Epidermolysis Bullosa Dystrophica, Autosomal Dominant, also known as autosomal dominant dystrophic epidermolysis bullosa, is related to dominant dystrophic epidermolysis bullosa and epidermolysis bullosa dystrophica, autosomal recessive. An important gene associated with Epidermolysis Bullosa Dystrophica, Autosomal Dominant is COL7A1 (Collagen Type VII Alpha 1 Chain). Affiliated tissues include skin and eye, and related phenotypes are nail dystrophy and abnormal blistering of the skin

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.

UniProtKB/Swiss-Prot : 76 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.

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:

# Related Disease Score Top Affiliating Genes
1 dominant dystrophic epidermolysis bullosa 11.5
2 epidermolysis bullosa dystrophica, autosomal recessive 11.1
3 dominant dystrophic epidermolysis bullosa, nails only 11.1
4 epidermolysis bullosa dystrophica 10.3
5 epidermolysis bullosa 10.3
6 epidermolysis bullosa pruriginosa 10.3

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:

33
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 33 HP:0008404
2 abnormal blistering of the skin 33 HP:0008066
3 nail dysplasia 33 HP:0002164
4 milia 33 HP:0001056
5 atrophic scars 33 HP:0001075

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

Genetic Tests for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

Anatomical Context for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

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

42
Skin, Eye

Publications for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

Articles related to Epidermolysis Bullosa Dystrophica, Autosomal Dominant:

# Title Authors Year
1
A splicing mutation in the COL7A1 gene causes autosomal dominant dystrophic epidermolysis bullosa pruriginosa. ( 18067480 )
2008
2
External ocular manifestations in autosomal dominant dystrophic epidermolysis bullosa; a case report. ( 23479525 )
2008
3
Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus. ( 1377750 )
1992

Variations for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

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

76 (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
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

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

6 (show all 46)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL7A1 NM_000094.3(COL7A1): c.6118G> A (p.Gly2040Ser) single nucleotide variant Pathogenic rs121912829 GRCh37 Chromosome 3, 48612834: 48612834
2 COL7A1 NM_000094.3(COL7A1): c.6118G> A (p.Gly2040Ser) single nucleotide variant Pathogenic rs121912829 GRCh38 Chromosome 3, 48575401: 48575401
3 COL7A1 NM_000094.3(COL7A1): c.6127G> A (p.Gly2043Arg) single nucleotide variant Pathogenic rs121912836 GRCh37 Chromosome 3, 48612825: 48612825
4 COL7A1 NM_000094.3(COL7A1): c.6127G> A (p.Gly2043Arg) single nucleotide variant Pathogenic rs121912836 GRCh38 Chromosome 3, 48575392: 48575392
5 COL7A1 NM_000094.3(COL7A1): c.6859G> A (p.Gly2287Arg) single nucleotide variant Pathogenic rs121912839 GRCh37 Chromosome 3, 48610145: 48610145
6 COL7A1 NM_000094.3(COL7A1): c.6859G> A (p.Gly2287Arg) single nucleotide variant Pathogenic rs121912839 GRCh38 Chromosome 3, 48572712: 48572712
7 COL7A1 NM_000094.3(COL7A1): c.6017G> A (p.Gly2006Asp) single nucleotide variant Pathogenic rs121912842 GRCh37 Chromosome 3, 48612935: 48612935
8 COL7A1 NM_000094.3(COL7A1): c.6017G> A (p.Gly2006Asp) single nucleotide variant Pathogenic rs121912842 GRCh38 Chromosome 3, 48575502: 48575502
9 COL7A1 NM_000094.3(COL7A1): c.6044G> A (p.Gly2015Glu) single nucleotide variant Pathogenic rs121912843 GRCh37 Chromosome 3, 48612908: 48612908
10 COL7A1 NM_000094.3(COL7A1): c.6044G> A (p.Gly2015Glu) single nucleotide variant Pathogenic rs121912843 GRCh38 Chromosome 3, 48575475: 48575475
11 COL7A1 NM_000094.3(COL7A1): c.6100G> A (p.Gly2034Arg) single nucleotide variant Pathogenic rs121912844 GRCh37 Chromosome 3, 48612852: 48612852
12 COL7A1 NM_000094.3(COL7A1): c.6100G> A (p.Gly2034Arg) single nucleotide variant Pathogenic rs121912844 GRCh38 Chromosome 3, 48575419: 48575419
13 COL7A1 NM_000094.3(COL7A1): c.6110G> A (p.Gly2037Glu) single nucleotide variant Pathogenic rs121912846 GRCh37 Chromosome 3, 48612842: 48612842
14 COL7A1 NM_000094.3(COL7A1): c.6110G> A (p.Gly2037Glu) single nucleotide variant Pathogenic rs121912846 GRCh38 Chromosome 3, 48575409: 48575409
15 COL7A1 NM_000094.3(COL7A1): c.6227G> A (p.Gly2076Asp) single nucleotide variant Pathogenic rs121912850 GRCh37 Chromosome 3, 48612549: 48612549
16 COL7A1 NM_000094.3(COL7A1): c.6227G> A (p.Gly2076Asp) single nucleotide variant Pathogenic rs121912850 GRCh38 Chromosome 3, 48575116: 48575116
17 COL7A1 NM_000094.3(COL7A1): c.425A> G (p.Lys142Arg) single nucleotide variant Pathogenic rs121912856 GRCh37 Chromosome 3, 48630971: 48630971
18 COL7A1 NM_000094.3(COL7A1): c.425A> G (p.Lys142Arg) single nucleotide variant Pathogenic rs121912856 GRCh38 Chromosome 3, 48593538: 48593538
19 COL7A1 NM_000094.3(COL7A1): c.4118C> T (p.Ser1373Leu) single nucleotide variant Uncertain significance rs140403507 GRCh38 Chromosome 3, 48584486: 48584486
20 COL7A1 NM_000094.3(COL7A1): c.4118C> T (p.Ser1373Leu) single nucleotide variant Uncertain significance rs140403507 GRCh37 Chromosome 3, 48621919: 48621919
21 COL7A1 NM_000094.3(COL7A1): c.2969G> A (p.Arg990Gln) single nucleotide variant Uncertain significance rs568498471 GRCh37 Chromosome 3, 48624876: 48624876
22 COL7A1 NM_000094.3(COL7A1): c.2969G> A (p.Arg990Gln) single nucleotide variant Uncertain significance rs568498471 GRCh38 Chromosome 3, 48587443: 48587443
23 COL7A1 NM_000094.3(COL7A1): c.2392G> A (p.Gly798Arg) single nucleotide variant Uncertain significance rs202237834 GRCh37 Chromosome 3, 48626351: 48626351
24 COL7A1 NM_000094.3(COL7A1): c.2392G> A (p.Gly798Arg) single nucleotide variant Uncertain significance rs202237834 GRCh38 Chromosome 3, 48588918: 48588918
25 COL7A1 NM_000094.3(COL7A1): c.1573C> T (p.Arg525Ter) single nucleotide variant Pathogenic rs368007918 GRCh37 Chromosome 3, 48628960: 48628960
26 COL7A1 NM_000094.3(COL7A1): c.1573C> T (p.Arg525Ter) single nucleotide variant Pathogenic rs368007918 GRCh38 Chromosome 3, 48591527: 48591527
27 COL7A1 NM_000094.3(COL7A1): c.1637-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs886058642 GRCh38 Chromosome 3, 48590817: 48590817
28 COL7A1 NM_000094.3(COL7A1): c.1637-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs886058642 GRCh37 Chromosome 3, 48628250: 48628250
29 COL7A1 NM_000094.3(COL7A1): c.1732C> T (p.Arg578Ter) single nucleotide variant Pathogenic rs144023803 GRCh37 Chromosome 3, 48628154: 48628154
30 COL7A1 NM_000094.3(COL7A1): c.1732C> T (p.Arg578Ter) single nucleotide variant Pathogenic rs144023803 GRCh38 Chromosome 3, 48590721: 48590721
31 COL7A1 NM_000094.3(COL7A1): c.7344G> A (p.Val2448=) single nucleotide variant Pathogenic rs201728948 GRCh37 Chromosome 3, 48608072: 48608072
32 COL7A1 NM_000094.3(COL7A1): c.7344G> A (p.Val2448=) single nucleotide variant Pathogenic rs201728948 GRCh38 Chromosome 3, 48570639: 48570639
33 COL7A1 NM_000094.3(COL7A1): c.6900+4A> G single nucleotide variant Pathogenic rs1057518706 GRCh37 Chromosome 3, 48610100: 48610100
34 COL7A1 NM_000094.3(COL7A1): c.6900+4A> G single nucleotide variant Pathogenic rs1057518706 GRCh38 Chromosome 3, 48572667: 48572667
35 COL7A1 NM_000094.3(COL7A1): c.6082G> A (p.Gly2028Arg) single nucleotide variant Pathogenic rs762162799 GRCh37 Chromosome 3, 48612870: 48612870
36 COL7A1 NM_000094.3(COL7A1): c.6082G> A (p.Gly2028Arg) single nucleotide variant Pathogenic rs762162799 GRCh38 Chromosome 3, 48575437: 48575437
37 COL7A1 NM_000094.3(COL7A1): c.5820G> A (p.Pro1940=) single nucleotide variant Pathogenic/Likely pathogenic rs200972872 GRCh37 Chromosome 3, 48613682: 48613682
38 COL7A1 NM_000094.3(COL7A1): c.5820G> A (p.Pro1940=) single nucleotide variant Pathogenic/Likely pathogenic rs200972872 GRCh38 Chromosome 3, 48576249: 48576249
39 COL7A1 NM_000094.3(COL7A1): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs1203706188 GRCh37 Chromosome 3, 48630987: 48630987
40 COL7A1 NM_000094.3(COL7A1): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs1203706188 GRCh38 Chromosome 3, 48593554: 48593554
41 COL7A1 NM_000094.3(COL7A1): c.1907G> T (p.Gly636Val) single nucleotide variant Uncertain significance rs116005007 GRCh37 Chromosome 3, 48627789: 48627789
42 COL7A1 NM_000094.3(COL7A1): c.1907G> T (p.Gly636Val) single nucleotide variant Uncertain significance rs116005007 GRCh38 Chromosome 3, 48590356: 48590356
43 COL7A1 NM_000094.3(COL7A1): c.4027C> T (p.Arg1343Ter) single nucleotide variant Pathogenic rs761234904 GRCh37 Chromosome 3, 48622187: 48622187
44 COL7A1 NM_000094.3(COL7A1): c.4027C> T (p.Arg1343Ter) single nucleotide variant Pathogenic rs761234904 GRCh38 Chromosome 3, 48584754: 48584754
45 COL7A1 NM_000094.3(COL7A1): c.2993-2A> G single nucleotide variant Likely pathogenic rs1553612928 GRCh38 Chromosome 3, 48587338: 48587338
46 COL7A1 NM_000094.3(COL7A1): c.2993-2A> G single nucleotide variant Likely pathogenic rs1553612928 GRCh37 Chromosome 3, 48624771: 48624771

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

Sources for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

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