Epidermolysis Bullosa Simplex With Migratory Circinate Erythema

Description

Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.

Clinical Features

Phenotypes and symptoms related to Epidermolysis Bullosa Simplex With Migratory Circinate Erythema

  • Erythema
  • Skin rash
  • Abnormality of skin pigmentation
  • Scarring
  • Skin vesicle

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Epidermolysis Bullosa Simplex With Migratory Circinate Erythema Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
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 %
KRT5 Gene Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

KRT5
Specificity
100 %
Genes
100 %
KRT5 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

KRT5
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 %
KRT5.

By Institute for Human Genetics University Clinic Freiburg in Germany.

KRT5
Specificity
100 %
Genes
100 %
KRT5. Complete sequencing.

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

KRT5
Specificity
100 %
Genes
100 %
KRT5. Sequencing of the exons 1, 5 and 7.

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

KRT5
Specificity
100 %
Genes
100 %
Epidermolysis bullosa simplex (sequence analysis of KRT5 gene).

By CGC Genetics in Portugal.

KRT5
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 simplex (NGS panel for 4 genes).

By CGC Genetics in Portugal.

KRT5, PLEC, KRT14, DST
Specificity
25 %
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 %
Epidermolysis Bullosa Simplex (EBS) via KRT5 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

KRT5
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 simplex.

By Centogene AG - the Rare Disease Company in Germany.

KRT5
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 %
Genetic disorders with abnormal pigmentation Panel.

By CeGaT GmbH in Germany.

HFE, KRT5, ABCB6, BLM, PTPN11, NF2, STK11, NF1, EDN3, PAX3, EDNRB, SNAI2, SOX10, SPRED1, MITF, LYST, ADAR, KIT, KITLG, MYO5A , (...)

View the complete list with 12 more genes
Specificity
4 %
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 %
Single gene testing KRT5.

By CeGaT GmbH in Germany.

KRT5
Specificity
100 %
Genes
100 %
Epidermolysis bullosa simplex: KRT5 (exons 1,5,7) and KRT14 (exons 1,4-7) genes screening.

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

KRT5, KRT14
Specificity
50 %
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 %
Congenital disorder of O-linked glycosylation (CDG).

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

B4GALT7, KRT5, FKTN, POMGNT1, FKRP, FGF23, POMT2, POMT1, ISPD, B4GAT1, POMGNT2, LARGE1, COL4A1, CHSY1, CHST14, B3GAT3, B3GALT6, B3GLCT, EXT2, EXT1 , (...)

View the complete list with 9 more genes
Specificity
4 %
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 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
KRT5.

By Fulgent Genetics Fulgent Genetics in United States.

KRT5
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 %
Epidermolysis bullosa simplex with mottled pigmentation.

By Bioarray in Spain.

KRT5
Specificity
100 %
Genes
100 %
EPIDERMOLISIS BULLOSA SIMPLEX / WEBER-COCKAYNE / DOWLING-MEARA / KOEBNER TYPES.

By Laboratorio de Genetica Clinica SL in Spain.

KRT5, PLEC, KRT14
Specificity
34 %
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 %
Dowling-Degos Disease Type 1 , Sequencing KRT5 Gene.

By Reference Laboratory Genetics in Spain.

KRT5
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 %
Dowling-Degos Disease , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

KRT5, ADAR, KRT14, POGLUT1, POFUT1, ADAM10
Specificity
17 %
Genes
100 %

Alternate names

Epidermolysis Bullosa Simplex With Migratory Circinate Erythema Is also known as ;ebs-migr.



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