Junctional Epidermolysis Bullosa Inversa
Description
Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.
Clinical Features
Phenotypes and symptoms related to Junctional Epidermolysis Bullosa Inversa
- Nail dystrophy
- Abnormal blistering of the skin
- Milia
- Atrophic scars
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Junctional Epidermolysis Bullosa Inversa Is also known as inverse jeb, jeb-i, ebj-i.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Junctional Epidermolysis Bullosa Inversa Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
GeneAware Complete Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)
View the complete list with 139 more genes
Specificity
1 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)
View the complete list with 129 more genes
Specificity
1 %
Genes
100 % |
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 % |
LAMC2 Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
LAMC2
Specificity
100 %
Genes
100 % |
LAMC2 Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
LAMC2
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 % |
LAMC2.
By Institute for Human Genetics University Clinic Freiburg (Germany).
LAMC2
Specificity
100 %
Genes
100 % |
LAMA3, LAMB3, LAMC2. Detection of the mutations p.Arg42X (c.124C>T), p.Gln243X (c.727C>T), p.Arg635X (c.1903C>T) and p.Glu320X (c.957ins77) of the LAMB3; p.R95X (c.283C>T) of the LAMC2 and p.Arg650X (c.1948A>T) of the LAMA3 by sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
LAMA3, LAMB3, LAMC2
Specificity
34 %
Genes
100 % |
You can get up to 37 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1 LEUKODYSTROPHY, HYPOMYELINATING, 4; HLD4