Inflammatory Skin And Bowel Disease, Neonatal, 1; Nisbd1

Clinical Features

Top most frequent phenotypes and symptoms related to Inflammatory Skin And Bowel Disease, Neonatal, 1; Nisbd1

  • Diarrhea
  • Erythema
  • Skin rash
  • Eosinophilia
  • Erythroderma
  • Pustule
  • Blepharitis
  • Hematochezia
  • Myocarditis
  • Villous atrophy

And another 4 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, 1; Nisbd1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Inflammatory skin and bowel disease, neonatal, type 1.

By Centogene AG - the Rare Disease Company (Germany).

ADAM17
Specificity
100 %
Genes
100 %
Hereditary hemorrhagic telangiectasia panel.

By Centogene AG - the Rare Disease Company (Germany).

ACVRL1, ADAM17, ENG, GDF2, SMAD4, PTPN14, RASA1
Specificity
15 %
Genes
100 %
Invitae Monogenic Inflammatory Bowel Disease Panel.

By Invitae (United States).

SH2D1A, BTK, STAT1, STAT3, STIM1, STXBP2, CD40LG, WAS, ZAP70, AICDA, RTEL1, NLRC4, CD3G, LRBA, DCLRE1C, ADA, DOCK8, ADAM17, TTC7A, G6PC3 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae (United States).

RMRP, RORC, SEMA3E, SH2D1A, SH3BP2, SLC7A7, SMARCAL1, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TAZ, TBK1, TCN2 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Invitae Autoinflammatory Syndromes Panel.

By Invitae (United States).

SH3BP2, TNFRSF1A, LPIN2, IL36RN, RBCK1, NLRP3, NLRC4, CARD14, TRNT1, ADA2, ADAM17, COPA, NLRP12, SLC29A3, ELANE, NOD2, IL10, IL10RA, IL10RB, IL1RN , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
ADAM17.

By Fulgent Genetics Fulgent Genetics (United States).

ADAM17
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics (Finland).

RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1 , (...)

View the complete list with 253 more genes
Specificity
1 %
Genes
100 %
Congenital Diarrhea Panel.

By Blueprint Genetics (Finland).

SAR1B, SI, SKIV2L, SLC10A2, SLC5A1, SLC9A3, SPINT2, STX3, EPCAM, NEUROG3, ADAM17, TTC7A, TTC37, CYP27A1, DGAT1, SLC26A3, GUCY2C, XIAP, IL10, IL10RA , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %

You can get up to 2 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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