MCID: DMN011
MIFTS: 33

Dominant Dystrophic Epidermolysis Bullosa

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Dominant Dystrophic Epidermolysis Bullosa

MalaCards integrated aliases for Dominant Dystrophic Epidermolysis Bullosa:

Name: Dominant Dystrophic Epidermolysis Bullosa 53 29
Generalized Dominant Dystrophic Epidermolysis Bullosa 53 29 6 40
Autosomal Dominant Dystrophic Epidermolysis Bullosa, Pasini and Cockayne-Touraine Types 53
Dominant Dystrophic Epidermolysis Bullosa, Generalized 53
Epidermolysis Bullosa Dystrophica, Autosomal Dominant 53
Dystrophic Epidermolysis Bullosa, Autosomal Dominant 53
Ddeb, Pasini and Cockayne-Touraine Types 53
Cockayne-Touraine Disease 73
Ddeb, Generalized 53
Ddeb-Gen 53

Classifications:



Summaries for Dominant Dystrophic Epidermolysis Bullosa

NIH Rare Diseases : 53 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.

MalaCards based summary : Dominant Dystrophic Epidermolysis Bullosa, also known as generalized dominant dystrophic epidermolysis bullosa, is related to dominant dystrophic epidermolysis bullosa, nails only and epidermolysis bullosa dystrophica, autosomal dominant. An important gene associated with Dominant Dystrophic Epidermolysis Bullosa is COL7A1 (Collagen Type VII Alpha 1 Chain), and among its related pathways/superpathways are Vesicle-mediated transport and Transport to the Golgi and subsequent modification. Affiliated tissues include skin, and related phenotypes are urinary retention and carious teeth

Related Diseases for Dominant Dystrophic Epidermolysis Bullosa

Diseases in the Dominant Dystrophic Epidermolysis Bullosa family:

Recessive Dystrophic Epidermolysis Bullosa

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 dominant dystrophic epidermolysis bullosa, nails only 12.3
2 epidermolysis bullosa dystrophica, autosomal dominant 12.1
3 epidermolysis bullosa 11.0
4 epidermolysis bullosa pruriginosa 10.5
5 epidermolysis bullosa acquisita 10.2
6 diabetes mellitus 10.1
7 pyloric stenosis 10.1
8 keratosis 10.1
9 squamous cell carcinoma 10.1
10 dermatitis 10.1
11 iga glomerulonephritis 10.1
12 purpura 10.1
13 amyloidosis 10.1
14 amniotic band syndrome 10.1
15 nail disorder, nonsyndromic congenital, 8 9.0 COL7A1 MIR711

Graphical network of the top 20 diseases related to Dominant Dystrophic Epidermolysis Bullosa:



Diseases related to Dominant Dystrophic Epidermolysis Bullosa

Symptoms & Phenotypes for Dominant Dystrophic Epidermolysis Bullosa

Human phenotypes related to Dominant Dystrophic Epidermolysis Bullosa:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 urinary retention 32 occasional (7.5%) HP:0000016
2 carious teeth 32 frequent (33%) HP:0000670
3 hypopigmented skin patches 32 frequent (33%) HP:0001053
4 milia 32 occasional (7.5%) HP:0001056
5 atrophic scars 32 frequent (33%) HP:0001075
6 abnormality of the fingernails 32 hallmark (90%) HP:0001231
7 anemia 32 occasional (7.5%) HP:0001903
8 dysphagia 32 occasional (7.5%) HP:0002015
9 esophageal stricture 32 occasional (7.5%) HP:0002043
10 abnormal toenail morphology 32 hallmark (90%) HP:0008388
11 urethral stricture 32 occasional (7.5%) HP:0012227
12 cheilitis 32 hallmark (90%) HP:0100825
13 corneal erosion 32 occasional (7.5%) HP:0200020
14 skin vesicle 32 hallmark (90%) HP:0200037

Drugs & Therapeutics for Dominant Dystrophic Epidermolysis Bullosa

Search Clinical Trials , NIH Clinical Center for Dominant Dystrophic Epidermolysis Bullosa

Genetic Tests for Dominant Dystrophic Epidermolysis Bullosa

Genetic tests related to Dominant Dystrophic Epidermolysis Bullosa:

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

Anatomical Context for Dominant Dystrophic Epidermolysis Bullosa

MalaCards organs/tissues related to Dominant Dystrophic Epidermolysis Bullosa:

41
Skin

Publications for Dominant Dystrophic Epidermolysis Bullosa

Articles related to Dominant Dystrophic Epidermolysis Bullosa:

(show top 50) (show all 74)
# Title Authors Year
1
Multiple Milia as an Isolated Skin Manifestation of Dominant Dystrophic Epidermolysis Bullosa: Evidence of Phenotypic Variability. ( 28686345 )
2017
2
Large deletions targeting the triple-helical domain of collagen VII lead to mild acral dominant dystrophic epidermolysis bullosa. ( 29179948 )
2017
3
Case of dominant dystrophic epidermolysis bullosa with amniotic band syndrome. ( 27130450 )
2016
4
Site-specific genome editing for correction of induced pluripotent stem cells derived from dominant dystrophic epidermolysis bullosa. ( 27143720 )
2016
5
A novel glycine substitution mutation in the COL7A1 gene in two Scottish families with dominant dystrophic epidermolysis bullosa presenting with milia on the hands and feet. ( 27790721 )
2016
6
Multiple Milia as an Isolated Skin Manifestation of Dominant Dystrophic Epidermolysis Bullosa: Evidence of Phenotypic Variability. ( 28008652 )
2016
7
Epidermolysis Bullosa Acquisita Develops in Dominant Dystrophic Epidermolysis Bullosa. ( 26763454 )
2016
8
Epidermolysis Bullosa Acquisita Develops in Dominant Dystrophic Epidermolysis Bullosa. ( 26401585 )
2015
9
A Case of Dominant Dystrophic Epidermolysis Bullosa Responding Well to an Old Medication. ( 26154424 )
2015
10
Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing. ( 25425313 )
2014
11
Genetic basis of dominant dystrophic epidermolysis bullosa in tunisian families and co-occurrence of dominant and recessive mutations. ( 25088787 )
2014
12
A recurrent 'hot spot' glycine substitution mutation, G2043R in COL7A1, induces dominant dystrophic epidermolysis bullosa associated with intracytoplasmic accumulation of pro-collagen VII. ( 24794830 )
2014
13
A case of dominant dystrophic epidermolysis bullosa with diabetes mellitus presenting as progressive recalcitrant blisters and erosions. ( 23432976 )
2013
14
Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effect. ( 23717576 )
2013
15
A mutation-independent therapeutic strategy for dominant dystrophic epidermolysis bullosa. ( 23743647 )
2013
16
PNA as a potential modulator of COL7A1 gene expression in dominant dystrophic epidermolysis bullosa: a physico-chemical study. ( 24121392 )
2013
17
The largest family of the Americas with dominant dystrophic epidermolysis bullosa pruriginosa: a 18-year longitudinal genotype-phenotype study. ( 23688405 )
2013
18
Case of dominant dystrophic epidermolysis bullosa pruriginosa with a c.7868G>A (G2623D) mutation in type VII collagen. ( 22901038 )
2012
19
An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred. ( 22515571 )
2012
20
siRNA-mediated allele-specific inhibition of mutant type VII collagen in dominant dystrophic epidermolysis bullosa. ( 22336946 )
2012
21
Dominant dystrophic epidermolysis bullosa pruriginosa with the G2287R mutation. ( 23017881 )
2012
22
A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing. ( 21574979 )
2011
23
Exon 87 skipping of the COL7A1 gene in dominant dystrophic epidermolysis bullosa. ( 21352278 )
2011
24
Hemorrhagic, bullous Henoch Schonlein purpura in a 16-year-old girl with previously undiagnosed dominant dystrophic epidermolysis bullosa. ( 20537079 )
2010
25
A novel de novo splice-site mutation in the COL7A1 gene in dominant dystrophic epidermolysis bullosa (DDEB): specific exon skipping could be a prognostic factor for DDEB pruriginosa. ( 19486058 )
2009
26
A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity. ( 19250433 )
2009
27
External ocular manifestations in autosomal dominant dystrophic epidermolysis bullosa; a case report. ( 23479525 )
2008
28
A novel p.Gly1700Asp mutation in COL7A1 responsible for dominant dystrophic epidermolysis bullosa: more severe phenotype in female members of a Chinese family. ( 17900868 )
2008
29
IgA nephropathy in a patient with dominant dystrophic epidermolysis bullosa. ( 18441504 )
2008
30
[Localised de novo dominant dystrophic epidermolysis bullosa]. ( 18374850 )
2008
31
A splicing mutation in the COL7A1 gene causes autosomal dominant dystrophic epidermolysis bullosa pruriginosa. ( 18067480 )
2008
32
A novel indel COL7A1 mutation 8068del17insGA causes dominant dystrophic epidermolysis bullosa. ( 16634910 )
2006
33
Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1). ( 16923137 )
2006
34
The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa. ( 15113589 )
2004
35
Isolated nail dystrophy suggestive of dominant dystrophic epidermolysis bullosa. ( 14521572 )
2003
36
A new glycine substitution mutation in the COL7A1 gene in a Chinese family with dominant dystrophic epidermolysis bullosa. ( 12823310 )
2003
37
A Japanese case of de novo dominant dystrophic epidermolysis bullosa. ( 11952672 )
2002
38
Management of generalized pruritus in dominant dystrophic epidermolysis bullosa using low-dose oral cyclosporin. ( 12430742 )
2002
39
A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa. ( 12353709 )
2002
40
Dominant dystrophic epidermolysis bullosa presenting as familial nail dystrophy. ( 11260188 )
2001
41
Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1. ( 11260189 )
2001
42
Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa. ( 11710955 )
2001
43
Dominant dystrophic epidermolysis bullosa associated with pyloric stenosis and congenital absence of skin. ( 11346353 )
2001
44
A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa. ( 10836608 )
2000
45
Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa. ( 11142768 )
2000
46
Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1 molecular analysis. ( 10951471 )
2000
47
Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1). ( 10233777 )
1999
48
Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study. ( 10232408 )
1999
49
A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa. ( 9892921 )
1998
50
Clinical phenotype of Bart's syndrome seen in a family with dominant dystrophic epidermolysis bullosa. ( 9769597 )
1998

Variations for Dominant Dystrophic Epidermolysis Bullosa

ClinVar genetic disease variations for Dominant Dystrophic Epidermolysis Bullosa:

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 Dominant Dystrophic Epidermolysis Bullosa

Search GEO for disease gene expression data for Dominant Dystrophic Epidermolysis Bullosa.

Pathways for Dominant Dystrophic Epidermolysis Bullosa

GO Terms for Dominant Dystrophic Epidermolysis Bullosa

Sources for Dominant Dystrophic Epidermolysis Bullosa

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