Inflammatory Skin And Bowel Disease, Neonatal, 2; Nisbd2

Clinical Features

Top most frequent phenotypes and symptoms related to Inflammatory Skin And Bowel Disease, Neonatal, 2; Nisbd2

  • Failure to thrive
  • Hypertension
  • Respiratory distress
  • Edema
  • Vomiting
  • Diarrhea
  • Papule
  • Postural instability
  • Dehydration
  • Coarctation of aorta

And another 7 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

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.

Inflammatory Skin And Bowel Disease, Neonatal, 2; Nisbd2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EGFR Mutation Analysis.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).

EGFR
Specificity
100 %
Genes
100 %
EGFR. Detection of the germinal mutations by complete sequencing.

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

EGFR
Specificity
100 %
Genes
100 %
EGFR. Sequencing of the exons 18, 19, 20 and 21.

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

EGFR
Specificity
100 %
Genes
100 %
Test for Lung Cancer, EGFR-Related.

By CIBIC S.A. (Argentina).

EGFR
Specificity
100 %
Genes
100 %
CHOP Comprehensive Hereditary Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL , (...)

View the complete list with 85 more genes
Specificity
1 %
Genes
100 %
Lung cancer (sequence analysis of exons 18 - 21 of EGFR gene).

By CGC Genetics (Portugal).

EGFR
Specificity
100 %
Genes
100 %
Detection by FISH of EGFR.

By CGC Genetics (Portugal).

EGFR
Specificity
100 %
Genes
100 %
Deletion/duplication analysis of EGFR gene.

By CGC Genetics (Portugal).

EGFR
Specificity
100 %
Genes
100 %

You can get up to 63 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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