ADAM17 gene related symptoms and diseases

All the information presented here about the ADAM17 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ADAM17 gene

Symptoms // Phenotype % Cases
Diarrhea Uncommon - Between 30% and 50% cases
Erythema Uncommon - Between 30% and 50% cases
Skin rash Uncommon - Between 30% and 50% cases
Eosinophilia Uncommon - Between 30% and 50% cases
Erythroderma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ADAM17 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Pustule
  • Blepharitis
  • Hematochezia
  • Myocarditis
  • Villous atrophy
  • Thick nail
  • Recurrent infection of the gastrointestinal tract
  • Paronychia

And 1 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ADAM17 gene

Here you will find a list of rare diseases related to the ADAM17. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1


Most common symptoms of INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1

  • Diarrhea
  • Erythema
  • Skin rash
  • Eosinophilia
  • Erythroderma


More info about INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1

SOURCES: OMIM

NEONATAL INFLAMMATORY SKIN AND BOWEL DISEASE


Description

Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.


More info about NEONATAL INFLAMMATORY SKIN AND BOWEL DISEASE

SOURCES: ORPHANET


Potential gene panels for ADAM17 gene

Inflammatory skin and bowel disease, neonatal, type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ADAM17 gene.

More info about this panel

Hereditary hemorrhagic telangiectasia panel Panel

Germany.

By Centogene AG - the Rare Disease Company Hereditary hemorrhagic telangiectasia panel that also includes the following genes: ACVRL1 ADAM17 ENG GDF2 SMAD4 PTPN14 RASA1

More info about this panel

Invitae Monogenic Inflammatory Bowel Disease Panel Panel

United States.

By Invitae Invitae Monogenic Inflammatory Bowel Disease Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 STIM1 STXBP2 CD40LG WAS ZAP70 AICDA

More info about this panel

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel

Invitae Autoinflammatory Syndromes Panel Panel

United States.

By Invitae Invitae Autoinflammatory Syndromes Panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN RBCK1 NLRP3 NLRC4 CARD14 TRNT1 ADA2

More info about this panel

ADAM17 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ADAM17 gene.

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Congenital Diarrhea Panel Panel

Finland.

By Blueprint Genetics Congenital Diarrhea Panel that also includes the following genes: SAR1B SI SKIV2L SLC10A2 SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3

More info about this panel

Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes Panel

Spain.

By Reference Laboratory Genetics Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes that also includes the following genes: SH2D1A STXBP2 TERC TERT TGFB1 TINF2 CD40LG WAS WIPF1 CARD9

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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