Epidermolysis Bullosa Dystrophica, Autosomal Dominant; Ddeb
Description
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.
Genes related to Epidermolysis Bullosa Dystrophica, Autosomal Dominant; Ddeb
- COL7A1
Clinical Features
Top most frequent phenotypes and symptoms related to Epidermolysis Bullosa Dystrophica, Autosomal Dominant; Ddeb
- Anemia
- Dysphagia
- Constipation
- Scarring
- Papule
- Nail dystrophy
- Carious teeth
- Nail dysplasia
- Abnormal blistering of the skin
- Abnormality of the fingernails
And another 13 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Epidermolysis Bullosa Dystrophica, Autosomal Dominant; Ddeb Is also known as epidermolysis bullosa dystrophica, pasini type, ebdd, epidermolysis bullosa dystrophica, cockayne-touraine type, dystrophic epidermolysis bullosa, autosomal dominant, ebdct, albopapuloid dominant dystrophic epidermolysis bullosa.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Epidermolysis Bullosa Dystrophica, Autosomal Dominant; Ddeb Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
EBSeq Epidermolysis Bullosa Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, KLHL24, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2 , (...)
View the complete list with 2 more genes
Specificity
5 %
Genes
100 % |
COL7A1 Gene Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
COL7A1
Specificity
100 %
Genes
100 % |
COL7A1 Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
COL7A1
Specificity
100 %
Genes
100 % |
EB (Epidermolysis Bullosa) Deletion/Duplication panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC
Specificity
5 %
Genes
100 % |
COL7A1.
By Institute for Human Genetics University Clinic Freiburg (Germany).
COL7A1
Specificity
100 %
Genes
100 % |
COL7A1. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
COL7A1
Specificity
100 %
Genes
100 % |
COL7A1. Sequencing of the exons 73, 74 and 75.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
COL7A1
Specificity
100 %
Genes
100 % |
CHOP Comprehensive Hereditary Cancer Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL , (...)
View the complete list with 85 more genes
Specificity
1 %
Genes
100 % |
You can get up to 37 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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