Epidermolysis Bullosa Simplex, Autosomal Recessive 1; Ebsb1

Description

Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous group of disorders characterized by recurrent blistering and cleavage within basal keratinocytes. Most forms show autosomal dominant inheritance (see, e.g., {131800}, {131760}, and {131900}), but autosomal recessive inheritance has been described (Fine et al., 2008).

Clinical Features

Top most frequent phenotypes and symptoms related to Epidermolysis Bullosa Simplex, Autosomal Recessive 1; Ebsb1

  • Neoplasm
  • Hyperkeratosis
  • Abnormality of skin pigmentation
  • Palmoplantar keratoderma
  • Abnormal blistering of the skin
  • Skin ulcer
  • Abnormality of the nail
  • Abnormality of the fingernails
  • Pyloric stenosis
  • Failure to thrive in infancy

And another 10 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 EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1; EBSB1 have a estimated prevalence of 1.8 per 100k in Europe.
No data available about the known clinical features onset.

Researches and researchers

Doctors, researchs, and experts related to Epidermolysis Bullosa Simplex, Autosomal Recessive 1; Ebsb1 extracted from public data.

Epidermolysis Bullosa Simplex, Autosomal Recessive 1; Ebsb1 Experts map



Current Researchs and researchers

  • LEIPZIG — Pr Thomas MAGIN

    Investigator of research project

    • Institution/s:
      — TRM Universit√§t Leipzig
    • Research area/topic::

      Keratin diseases : Keratin-dependent regulation of protein biosynthesis and cytoskeletal organization during epithelial differentiation


  • DUNDEE — Pr Irwin MCLEAN

    Investigator of research project - Contact person of registry

    • Institution/s:
      — College of Life Sciences, University of Dundee
    • Research area/topic::

      Investigation of a topical treatment for Epidermolysis Bullosa Simplex through RNA-interference therapy systems


  • DUNDEE — Pr William H MCLEAN

    Investigator of research project

    • Institution/s:
      — University of Dundee
    • Research area/topic::

      MICA: Delivering gene silencing therapy to the epidermis and ocular surface



Mendelian

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Epidermolysis Bullosa Simplex, Autosomal Recessive 1; Ebsb1 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
10 %
Genes
100 %
KRT14 Gene Sequencing.

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

KRT14
Specificity
100 %
Genes
50 %
KRT14.

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

KRT14
Specificity
100 %
Genes
50 %
KRT14. Sequencing of the exons 1, 4 and 6.

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

KRT14
Specificity
100 %
Genes
50 %
KRT14. Complete sequencing.

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

KRT14
Specificity
100 %
Genes
50 %
KRT14. Sequencing of the exons 1, 4 and 6.

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

KRT14
Specificity
100 %
Genes
50 %
KRT14. Complete sequencing.

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

KRT14
Specificity
100 %
Genes
50 %
Epidermolysis bullosa simplex (sequence analysis of KRT14 gene).

By CGC Genetics (Portugal).

KRT14
Specificity
100 %
Genes
50 %

We have 50 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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