Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails

COL7A1

Clinical Features

Phenotypes and symptoms related to Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails

Nail dystrophy
Nail dysplasia
Fragile skin
Congenital localized absence of skin

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 With Congenital Localized Absence Of Skin And Deformity Of Nails Is also known as epidermolysis bullosa dystrophica, bart type.

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 With Congenital Localized Absence Of Skin And Deformity Of Nails 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 Panel complete gene list DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, KLHL24, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC 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 Panel complete gene list RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL, CDC73, HAX1, DICER1, ARID5B, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEBPE, DDX41, DOCK8, SBDS, BRIP1, RHBDF2, COL7A1, G6PC3, CYLD, SDHAF2, PALB2, DDB2, FLCN, DIS3L2, DKC1, EGFR, ELANE, ERCC2, ERCC3, ERCC4, ERCC5, ETV6, EXT1, EXT2, FAH, FANCA, FANCC, FANCG, FH, GATA2, GBA, ABCB11, ALK, GJB2, GPC3, HFE, HMBS, HRAS, APC, ITK, KIT, SMAD4, MAX, MEN1, MET, MLH1, MPL, MSH2, MSH6, MTAP, MUTYH, NBN, NF1, NF2, ATM, PAX5, PDGFRA, SERPINA1, AXIN2, PMS2, PHOX2B, POLD1, POLE, POLH, PRKAR1A, PRSS1, BAP1, PTCH1, PTEN, PTPN11, RAD51C, RAD51D, RB1, RECQL4, RET Specificity 1 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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