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).
Genes related to Epidermolysis Bullosa Simplex, Autosomal Recessive 1; Ebsb1
- KRT14
- KRT5
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.
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
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Investigator of research project
LEIPZIG — Pr Thomas MAGIN
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Institution/s:
— TRM Universität Leipzig -
Research area/topic::
Keratin diseases : Keratin-dependent regulation of protein biosynthesis and cytoskeletal organization during epithelial differentiation
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Institution/s:
-
Investigator of research project - Contact person of registry
DUNDEE — Pr Irwin MCLEAN
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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
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Institution/s:
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Investigator of research project DUNDEE — Pr William H MCLEAN
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Institution/s:
— University of Dundee -
Research area/topic::
MICA: Delivering gene silencing therapy to the epidermis and ocular surface
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Institution/s:
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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 % |
Sources and references
You can check the following sources for additional information.
ORPHANET OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CYSTATHIONINURIA MALEYLACETOACETATE ISOMERASE DEFICIENCY; MAAID ATRIAL FIBRILLATION, FAMILIAL, 11; ATFB11 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA; CAGSSS 2P21 MICRODELETION SYNDROME
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