Junctional Epidermolysis Bullosa, Generalized Intermediate

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.

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

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



Mendelian

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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
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
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 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SJOGREN-LARSSON SYNDROME; SLS NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D LATE-ONSET JUNCTIONAL EPIDERMOLYSIS BULLOSA

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