Junctional Epidermolysis Bullosa, Generalized Intermediate

Incidence and onset information

Alternative names

Junctional Epidermolysis Bullosa, Generalized Intermediate Is also known as junctional epidermolysis bullosa, disentis type, generalized junctional epidermolysis bullosa, non-herlitz type, gabeb, jeb-nh gen, jeb, generalized intermediate, generalized atrophic benign epidermolysis bullosa, junctional epidermolysis bullosa generalisata m.

Researches and researchers

Doctors, researchs, and experts related to Junctional Epidermolysis Bullosa, Generalized Intermediate extracted from public data.

Junctional Epidermolysis Bullosa, Generalized Intermediate Experts map

Current Researchs and researchers

• SALZBURG — Pr Johann BAUER

  Clinical expert - Responsible for diagnostic tests - Principal investigator of clinical trial - Investigator of research project - Sponsor of orphan designation - Director of laboratory - Director of department
  
  

  • Institution/s:
    — Universitätsklinik für Dermatologie, Salzburger Landeskliniken (SALK) / Paracelsus Med. Privatuniversität (PMU)
    — Salzburger Landeskliniken (SALK) / Paracelsus Med. Privatuniversität (PMU)
    — Salzburger Landeskliniken (SALK) / Paracelsus Med. Privatuniversität (PMU)
  • Research area/topic::
    

    Development of small molecule therapy in Epidermolysis bullosa

Junctional Epidermolysis Bullosa, Generalized Intermediate 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 Close Specificity 23 % Genes 100 %
ITGB4 Gene Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). ITGB4 Specificity 100 % Genes 20 %
ITGB4 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). ITGB4 Specificity 100 % Genes 20 %
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 25 % Genes 100 %
ITGB4. By Institute for Human Genetics University Clinic Freiburg (Germany). ITGB4 Specificity 100 % Genes 20 %
Exome PLUS Proteinuria/FSGS & Hematuria. By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States). CFB, TRPC6, TSC1, TSC2, C1QA, C1QC, WT1, C3, NPHS2, ADAMTS13, ACTN4, PLCE1, CLCN5, COL4A3, COL4A4, COL4A5, INF2, DGKE, ALMS1, GLA , (...) View the complete list with 12 more genes Panel complete gene list CFB, TRPC6, TSC1, TSC2, C1QA, C1QC, WT1, C3, NPHS2, ADAMTS13, ACTN4, PLCE1, CLCN5, COL4A3, COL4A4, COL4A5, INF2, DGKE, ALMS1, GLA, CFH, CFHR1, CFI, ITGB4, APOL1, LAMB2, LMX1B, CD46, MYH9, MYO1E, NPHS1, PAX2 Close Specificity 4 % Genes 20 %
ITGB4. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). ITGB4 Specificity 100 % Genes 20 %
ITGB4. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). ITGB4 Specificity 100 % Genes 20 %

Sources and references

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