Acral Dystrophic Epidermolysis Bullosa

Table of contents:

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

Description

Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet.

Genes related to Acral Dystrophic Epidermolysis Bullosa

COL7A1

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Acral Dystrophic Epidermolysis Bullosa

Nail dystrophy
Milia
Atrophic scars

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.

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.

Acral Dystrophic Epidermolysis Bullosa 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 %

You can get up to 37 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1 CAREY-FINEMAN-ZITER SYNDROME; CFZS CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A; CMTRIA MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1 MENTAL RETARDATION, X-LINKED 90; MRX90