Junctional Epidermolysis Bullosa With Respiratory And Renal Involvement

Description

Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

Clinical Features

Top most frequent phenotypes and symptoms related to Junctional Epidermolysis Bullosa With Respiratory And Renal Involvement

  • Microcephaly
  • Hypertelorism
  • Muscular hypotonia
  • Fever
  • Respiratory distress
  • Renal insufficiency
  • Pneumonia
  • Recurrent respiratory infections
  • Prominent forehead
  • Narrow mouth

And another 30 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

Junctional Epidermolysis Bullosa With Respiratory And Renal Involvement Is also known as jeb-rr, jeb with respiratory and renal involvement, congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome, congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome, congenital ilneb syndrome, conge.

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.


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Junctional Epidermolysis Bullosa With Respiratory And Renal Involvement 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 %
ITGA3 Gene Sequencing.

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

ITGA3
Specificity
100 %
Genes
100 %
ITGA3 Deletion/duplication analysis.

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

ITGA3
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 %
ITGA3.

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

ITGA3
Specificity
100 %
Genes
100 %
Epidermolysis bullosa (NGS panel for 18 genes).

By CGC Genetics (Portugal).

DST, FERMT1, COL17A1, COL7A1, DSP, EXPH5, ITGA3, ITGA6, ITGB4, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PLEC
Specificity
6 %
Genes
100 %
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

ITGA3
Specificity
100 %
Genes
100 %
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, TP53RK, ACTN4, SCARB2, PLCE1, XPO5, OSGEP, NUP205, CRB2, MAGI2, COQ8B, KANK1, COQ6, COL4A3 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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