Epidermolysis Bullosa Dystrophica, Pretibial

Description

Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region.

Clinical Features

Top most frequent phenotypes and symptoms related to Epidermolysis Bullosa Dystrophica, Pretibial

  • Milia
  • Hyperkeratosis
  • Pruritus
  • Nail dystrophy
  • Abnormality of the skin
  • Scarring
  • Abnormal blistering of the skin
  • Skin vesicle
  • Atypical scarring of skin
  • Dystrophic toenail
And another 2 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Epidermolysis Bullosa Dystrophica, Pretibial 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 in United States.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, CD151, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1 , (...)

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 in 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 in 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 in United States.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, CD151, JUP, TGM5, ITGA3, PKP1, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, CDSN
Specificity
5 %
Genes
100 %
COL7A1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

COL7A1
Specificity
100 %
Genes
100 %
COL7A1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL7A1
Specificity
100 %
Genes
100 %
COL7A1. Sequencing of the exons 73, 74 and 75.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL7A1
Specificity
100 %
Genes
100 %
CHOP Comprehensive Hereditary Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

BRCA1, BRCA2, HFE, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, ABCB11, RB1, SDHAF2, RET, SLC25A13, SDHC, FH , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Epidermolysis bullosa (sequence analysis of exons 73 to 75 of COL7A1 gene).

By CGC Genetics in Portugal.

COL7A1
Specificity
100 %
Genes
100 %
Dystrophic Epidermolysis Bullosa (sequence analysis of COL7A1 gene).

By CGC Genetics in Portugal.

COL7A1
Specificity
100 %
Genes
100 %
Epidermolysis bullosa (NGS panel for 18 genes).

By CGC Genetics in Portugal.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, ITGA3, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, KRT10, KRT1, MMP1
Specificity
6 %
Genes
100 %
Epidermolysis bullosa dystrophica (NGS panel for 2 genes).

By CGC Genetics in Portugal.

COL7A1, MMP1
Specificity
50 %
Genes
100 %
Epidermolysis Bullosa and Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, PKP1, KRT14, ITGB4, ITGA6, FERMT1, DST, COL17A1, COL7A1
Specificity
7 %
Genes
100 %
Dystrophic Epidermolysis Bullosa (DEB) via COL7A1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

COL7A1
Specificity
100 %
Genes
100 %
Epidermolysis bullosa Comprehensive panel.

By Connective Tissue Gene Tests in United States.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Epidermolysis bullosa NGS panel.

By Connective Tissue Gene Tests in United States.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Epidermolysis bullosa Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Epidermolysis bullosa dystrophica, autosomal dominant & recessive NGS test.

By Connective Tissue Gene Tests in United States.

COL7A1
Specificity
100 %
Genes
100 %
Epidermolysis bullosa dystrophica, autosomal dominant & recessive Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

COL7A1
Specificity
100 %
Genes
100 %
Epidermolysis bullosa dystrophica, autosomal dominant & recessive Comprehensive test.

By Connective Tissue Gene Tests in United States.

COL7A1
Specificity
100 %
Genes
100 %
Epidermolysis bullosa dystrophica.

By Centogene AG - the Rare Disease Company in Germany.

COL7A1
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Epidermolysis bullosa panel.

By Centogene AG - the Rare Disease Company in Germany.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, DSG1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Dystrophic Epidermolysis Bullosa.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

COL7A1
Specificity
100 %
Genes
100 %
Genetic Epidermolyses and blistering disorders Panel.

By CeGaT GmbH in Germany.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, KRT10, KRT1, MMP1
Specificity
6 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Dilated Cardiomyopathy Panel.

By Health in Code in Spain.

EYA4, DSP, CRYAB, DNAJC19, TAZ, ALMS1, DOLK, DMD, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, ANO5, BAG3, MYBPC3, ACTA1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Arrhythmia General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, FOXRED1, CRYAB , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
100 %
Cardiomyopathies General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1 , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Epidermolysis bullosa dystrophica: Col7A1 gene sequence analysis (exons 73-75).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

COL7A1
Specificity
100 %
Genes
100 %
Epidermolysis bullosa dystrophica: COL7A1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

COL7A1
Specificity
100 %
Genes
100 %
EPIDERMOLYSIS BULLOSA.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

KRT5, LAMB3, LAMA3, LAMC2, PLEC, KRT14, ITGB4, ITGA6, COL17A1, COL7A1
Specificity
10 %
Genes
100 %
Epidermolysis Bullosa NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, CD151, ITGA3, KRT14, ITGB4, COL17A1, COL7A1, MMP1
Specificity
8 %
Genes
100 %
COL7A1.

By Fulgent Genetics Fulgent Genetics in United States.

COL7A1
Specificity
100 %
Genes
100 %
Epidermolysis Bullosa Panel.

By Blueprint Genetics in Finland.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, DSG2, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CDSN, GRIP1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Generalized dominant dystrophic epidermolysis bullosa.

By Bioarray in Spain.

COL7A1
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
EPIDERMOLYSIS BULLOSA DYSTROPHICA / PRURIGINOSA.

By Laboratorio de Genetica Clinica SL in Spain.

COL7A1
Specificity
100 %
Genes
100 %
EPIDERMOLISIS BULLOSA: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, KRT10, KRT1, MMP1
Specificity
5 %
Genes
100 %
Dystrophic Epidermolysis Bullosa , Sequencing Exons (73-75) COL7A1 Gene.

By Reference Laboratory Genetics in Spain.

COL7A1
Specificity
100 %
Genes
100 %
Epidermolysis Bullosa , Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

KRT5, LAMB3, LAMA3, LAMC2, PLEC, KRT14, COL17A1, COL7A1
Specificity
13 %
Genes
100 %
Dystrophic Epidermolysis Bullosa , Massive Sequencing (NGS) COL7A1 Gene.

By Reference Laboratory Genetics in Spain.

COL7A1
Specificity
100 %
Genes
100 %
Epidermolysis Bullosa Dystrophica : COL7A1 gene sequencing.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India.

COL7A1
Specificity
100 %
Genes
100 %

Alternate names

Epidermolysis Bullosa Dystrophica, Pretibial Is also known as dystrophic epidermolysis bullosa, pretibial, deb, pretibial, epidermolysis bullosa, pretibial;deb-pt; pretibial deb.



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