MCID: EPD071
MIFTS: 25

Epidermolysis Bullosa Dystrophica, Autosomal Dominant

Categories: Genetic diseases, Skin diseases, Eye diseases, Fetal diseases, Rare 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 75
Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type 57 75
Albopapuloid Dominant Dystrophic Epidermolysis Bullosa 57 75
Autosomal Dominant Dystrophic Epidermolysis Bullosa 12 75
Epidermolysis Bullosa Dystrophica, Pasini Type 57 75
Epidermolysis Bullosa Dystrophica, Ad 57 13
Ebdct 57 75
Ddeb 57 75
Ebdd 57 75
Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type; Ebdct 57
Albopapuloid Dominant Dystrophic Epidermolysis Bullosa; Ebdd 57
Epidermolysis Bullosa Dystrophica, with Subcorneal Cleavage 75
Epidermolysis Bullosa Dystrophica with Subcorneal Cleavage 73
Dystrophic Epidermolysis Bullosa, Autosomal Dominant 57
Cockayne-Touraine Disease 73
Ebdsc 75

Characteristics:

OMIM:

57
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:

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


Classifications:



External Ids:

OMIM 57 131750
Disease Ontology 12 DOID:0080224
MeSH 44 D016108

Summaries for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

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)

MalaCards based summary : Epidermolysis Bullosa Dystrophica, Autosomal Dominant, also known as epidermolysis bullosa dystrophica, cockayne-touraine type, is related to dominant dystrophic epidermolysis bullosa and epidermolysis bullosa dystrophica. 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 milia and atrophic scars

UniProtKB/Swiss-Prot : 75 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 11.3
2 epidermolysis bullosa dystrophica 10.4
3 epidermolysis bullosa 10.4

Symptoms & Phenotypes for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Epidermolysis Bullosa Dystrophica, Autosomal Dominant:

32
# Description HPO Frequency HPO Source Accession
1 milia 32 HP:0001056
2 atrophic scars 32 HP:0001075
3 nail dysplasia 32 HP:0002164
4 abnormal blistering of the skin 32 HP:0008066
5 nail dystrophy 32 HP:0008404

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:

41
Skin

Publications for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

Articles related to Epidermolysis Bullosa Dystrophica, Autosomal Dominant:

# Title Authors Year
1
Genetic linkage analysis of epidermolysis bullosa dystrophica, Cockayne-Touraine type. ( 4028498 )
1985

Variations for Epidermolysis Bullosa Dystrophica, Autosomal Dominant

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

75 (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
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 26)
# 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.4118C> T (p.Ser1373Leu) single nucleotide variant Uncertain significance rs140403507 GRCh38 Chromosome 3, 48584486: 48584486
18 COL7A1 NM_000094.3(COL7A1): c.4118C> T (p.Ser1373Leu) single nucleotide variant Uncertain significance rs140403507 GRCh37 Chromosome 3, 48621919: 48621919
19 COL7A1 NM_000094.3(COL7A1): c.2969G> A (p.Arg990Gln) single nucleotide variant Uncertain significance rs568498471 GRCh37 Chromosome 3, 48624876: 48624876
20 COL7A1 NM_000094.3(COL7A1): c.2969G> A (p.Arg990Gln) single nucleotide variant Uncertain significance rs568498471 GRCh38 Chromosome 3, 48587443: 48587443
21 COL7A1 NM_000094.3(COL7A1): c.2392G> A (p.Gly798Arg) single nucleotide variant Uncertain significance rs202237834 GRCh37 Chromosome 3, 48626351: 48626351
22 COL7A1 NM_000094.3(COL7A1): c.2392G> A (p.Gly798Arg) single nucleotide variant Uncertain significance rs202237834 GRCh38 Chromosome 3, 48588918: 48588918
23 COL7A1 NM_000094.3(COL7A1): c.6900+4A> G single nucleotide variant Pathogenic rs1057518706 GRCh37 Chromosome 3, 48610100: 48610100
24 COL7A1 NM_000094.3(COL7A1): c.6900+4A> G single nucleotide variant Pathogenic rs1057518706 GRCh38 Chromosome 3, 48572667: 48572667
25 COL7A1 NM_000094.3(COL7A1): c.2993-2A> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 48587338: 48587338
26 COL7A1 NM_000094.3(COL7A1): c.2993-2A> G single nucleotide variant Likely pathogenic 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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