Junctional Epidermolysis Bullosa, Generalized Severe

Description

Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.

Clinical Features

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

  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Respiratory insufficiency
  • Syndactyly
  • Alopecia
  • Osteoporosis
  • Respiratory failure
  • Narrow mouth
  • Dyspnea

And another 26 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE have a estimated birth prevalence of 0.17 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Junctional Epidermolysis Bullosa, Generalized Severe Is also known as epidermolysis bullosa letalis, junctional epidermolysis bullosa, herlitz type, junctional epidermolysis bullosa, herlitz-pearson type, jeb-herlitz type, jeb-h, epidermolysis bullosa junctionalis, herlitz type, epidermolysis bullosa, junctional, herlitz-pearson .

Researches and researchers

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

Junctional Epidermolysis Bullosa, Generalized Severe 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



Mendelian

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Junctional Epidermolysis Bullosa, Generalized Severe Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
2 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
3 %
Genes
100 %
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
Specificity
14 %
Genes
100 %
LAMB3 Sequencing.

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

LAMB3
Specificity
100 %
Genes
34 %
LAMB3 Deletion/duplication analysis.

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

LAMB3
Specificity
100 %
Genes
34 %
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
15 %
Genes
100 %
LAMB3.

By Institute for Human Genetics University Clinic Freiburg (Germany).

LAMB3
Specificity
100 %
Genes
34 %
LAMA3, LAMB3, LAMC2. Detection of the mutations p.Arg42X (c.124C>T), p.Gln243X (c.727C>T), p.Arg635X (c.1903C>T) and p.Glu320X (c.957ins77) of the LAMB3; p.R95X (c.283C>T) of the LAMC2 and p.Arg650X (c.1948A>T) of the LAMA3 by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

LAMA3, LAMB3, LAMC2
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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