Inflammatory Skin And Bowel Disease, Neonatal, 2; Nisbd2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Inflammatory Skin And Bowel Disease, Neonatal, 2; Nisbd2

EGFR

View recommended genes panels

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.

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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 Panel complete gene list RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL, CDC73, HAX1, DICER1, ARID5B, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEBPE, DDX41, DOCK8, SBDS, BRIP1, RHBDF2, COL7A1, G6PC3, CYLD, SDHAF2, PALB2, DDB2, FLCN, DIS3L2, DKC1, EGFR, ELANE, ERCC2, ERCC3, ERCC4, ERCC5, ETV6, EXT1, EXT2, FAH, FANCA, FANCC, FANCG, FH, GATA2, GBA, ABCB11, ALK, GJB2, GPC3, HFE, HMBS, HRAS, APC, ITK, KIT, SMAD4, MAX, MEN1, MET, MLH1, MPL, MSH2, MSH6, MTAP, MUTYH, NBN, NF1, NF2, ATM, PAX5, PDGFRA, SERPINA1, AXIN2, PMS2, PHOX2B, POLD1, POLE, POLH, PRKAR1A, PRSS1, BAP1, PTCH1, PTEN, PTPN11, RAD51C, RAD51D, RB1, RECQL4, RET 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

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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