Recessive Dystrophic Epidermolysis Bullosa, Generalized Intermediate

Description

Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.

Clinical Features

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

  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Dysphagia
  • Visual loss
  • Constipation
  • Alopecia
  • Narrow mouth
  • Nail dystrophy
  • Hypotrichosis

And another 15 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

Recessive Dystrophic Epidermolysis Bullosa, Generalized Intermediate Is also known as generalized mitis rdeb, autosomal recessive dystrophic epidermolysis bullosa generalisata mitis, autosomal recessive dystrophic epidermolysis bullosa, generalized other, rdeb, generalized intermediate, rdeb-generalized other, rdeb, non-hallopeau-siemens type, r.

Researches and researchers

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

Recessive Dystrophic Epidermolysis Bullosa, Generalized Intermediate Experts map



Current Researchs and researchers

  • GRONINGEN — Dr A.M.G. [Marjon] PASMOOIJ

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — UMCG - Universitair Medisch Centrum Groningen
    • Research area/topic::

      SpliceEB: Splicing therapies for Dystrophic Epidermolysis Bullosa



Mendelian

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Recessive Dystrophic 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
5 %
Genes
100 %
COL7A1 Gene Sequencing.

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

COL7A1
Specificity
100 %
Genes
100 %
COL7A1 Deletion/duplication analysis.

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

COL7A1
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 (United States).

DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC
Specificity
5 %
Genes
100 %
COL7A1.

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

COL7A1
Specificity
100 %
Genes
100 %
COL7A1. Complete sequencing.

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

COL7A1
Specificity
100 %
Genes
100 %
COL7A1. Sequencing of the exons 73, 74 and 75.

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

COL7A1
Specificity
100 %
Genes
100 %
CHOP Comprehensive Hereditary Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL , (...)

View the complete list with 85 more genes
Specificity
1 %
Genes
100 %

We have 37 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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