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).
And another 10 symptoms. If you need more information about this disease we can help you.
Doctors, researchs, and experts related to Epidermolysis Bullosa Simplex, Autosomal Recessive 1; Ebsb1 extracted from public data.
Keratin diseases : Keratin-dependent regulation of protein biosynthesis and cytoskeletal organization during epithelial differentiation
Investigation of a topical treatment for Epidermolysis Bullosa Simplex through RNA-interference therapy systems
MICA: Delivering gene silencing therapy to the epidermis and ocular surface
Panel Name, Specifity and genes Tested/covered |
---|
![]() 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 % |
![]() 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 % |
![]() By Institute for Human Genetics University Clinic Freiburg (Germany).
KRT14
Specificity
100 %
Genes
50 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
KRT14
Specificity
100 %
Genes
50 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
KRT14
Specificity
100 %
Genes
50 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
KRT14
Specificity
100 %
Genes
50 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
KRT14
Specificity
100 %
Genes
50 % |
![]() By CGC Genetics (Portugal).
KRT14
Specificity
100 %
Genes
50 % |
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