Epidermolysis Bullosa Simplex, Autosomal Recessive 2; Ebsb2

Description

EBSB2 is a mild autosomal recessive dermatologic disorder characterized by trauma-induced blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques (summary by Liu et al., 2012).

Clinical Features

Phenotypes and symptoms related to Epidermolysis Bullosa Simplex, Autosomal Recessive 2; Ebsb2

  • Milia
  • Abnormality of the nervous system
  • Carious teeth
  • Nail dystrophy
  • Scarring
  • Abnormal blistering of the skin
  • Skin vesicle
  • Atrophic scars

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Epidermolysis Bullosa Simplex, Autosomal Recessive 2; Ebsb2 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 %
DST Gene Sequencing.

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

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

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

DST
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 %
DST.

By Institute for Human Genetics University Clinic Freiburg in Germany.

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

By CGC Genetics in Portugal.

DST
Specificity
100 %
Genes
100 %
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes).

By CGC Genetics in Portugal.

TTR, ABHD12, TWNK, C12orf65, GARS, KIF1B, MFN2, KARS, SPTLC2, REEP1, TYMP, AIFM1, PHYH, HK1, SEPT9, ELP1, SLC12A6, NDRG1, SBF2, PRX , (...)

View the complete list with 54 more genes
Specificity
2 %
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 %
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

POLG, SPTLC2, FLVCR1, ELP1, RAB7A, NTRK1, WNK1, SPTLC1, ATL1, KIF1A, SCN9A, DNMT1, CCT5, DST, RETREG1, NGF, SCN11A, ATL3, CLTCL1, PRDM12
Specificity
5 %
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, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

DST
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 %
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 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 %
Charcot-Marie-Tooth and Sensory Neuropathies Panel.

By CeGaT GmbH in Germany.

TTR, ABHD12, TWNK, C12orf65, FBLN5, OPA1, POLG, GARS, KIF1B, MFN2, HADHA, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Invitae Comprehensive Neuropathies Panel.

By Invitae in United States.

TTR, ATP7A, GARS, MFN2, HARS, SPTLC2, REEP1, AIFM1, ELP1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Invitae Hereditary Sensory and Autonomic Neuropathy Panel.

By Invitae in United States.

SPTLC2, ELP1, RAB7A, NTRK1, WNK1, SPTLC1, ATL1, KIF1A, SCN9A, DNMT1, DST, RETREG1, NGF, SCN11A, ATL3
Specificity
7 %
Genes
100 %
DST.

By Fulgent Genetics Fulgent Genetics in United States.

DST
Specificity
100 %
Genes
100 %
Charcot-Marie-Tooth Neuropathy Panel.

By Blueprint Genetics in Finland.

TTR, ATP7A, C12orf65, FBLN5, AMACR, GNE, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 78 more genes
Specificity
2 %
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 %
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 %

Alternate names

Epidermolysis Bullosa Simplex, Autosomal Recessive 2; Ebsb2 Is also known as ;dst-related epidermolysis bullosa simplex; ebs-ar bp230.



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