Junctional Epidermolysis Bullosa, Generalized Intermediate

Table of contents:

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

Description

Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.

Genes related to Junctional Epidermolysis Bullosa, Generalized Intermediate

ITGB4
COL17A1
LAMB3
LAMC2
LAMA3

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Junctional Epidermolysis Bullosa, Generalized Intermediate

Growth delay
Anemia
Nail dystrophy
Abnormality of skin pigmentation
Palmoplantar keratoderma
Abnormal blistering of the skin
Hypoplasia of dental enamel
Anonychia
Milia
Atrophic scars

And another 4 symptoms. If you need more information about this disease we can help you.

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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.

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 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 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 %