inflammatory skin and bowel disease, neonatal, 1
Findings
No curated finding names inflammatory skin and bowel disease, neonatal, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene.
Definition from the Mondo Disease Ontology (MONDO:0013693), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BlepharitisHPOHP:0000498
- 2 of 2 reported patients
- Bloody diarrheaHPOHP:0025085
- 2 of 2 reported patients · Neonatal onset
- DuodenitisHPOHP:0033117
- 2 of 2 reported patients
- ErythrodermaHPOHP:0001019
- 2 of 2 reported patients
- Increased circulating IgE concentrationHPOHP:0003212
- 2 of 2 reported patients
- OnychogryphosisHPOHP:0001805
- 2 of 2 reported patients
- Otitis externaHPOHP:0410017
Show the remaining 1
- Villous atrophyHPOHP:0011473
- 1 of 2 reported patients · Childhood onset
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ADAM17HGNC:195
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: inflammatory skin and bowel disease, neonatal, 1
- Also called
- ADAM17 neonatal inflammatory skin and bowel diseaseinflammatory skin and bowel disease, neonatal, type 1neonatal inflammatory skin and bowel disease caused by mutation in ADAM17