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inflammatory skin and bowel disease, neonatal, 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

inflammatory skin and bowel disease, neonatal, 1

MONDO:0013693

Also known as:ADAM17 neonatal inflammatory skin and bowel diseaseinflammatory skin and bowel disease, neonatal, type 1neonatal inflammatory skin and bowel disease caused by mutation in ADAM17

Overview

Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene.

GeneticsAutosomal recessive · ADAM17 (chr 2)

OnsetNEONATAL, INFANTILE, CHILDHOOD

ResearchLimited published research (8 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Increased circulating IgE concentration, Pustule, Bloody diarrhea, and Duodenitis and others; and common findings: Failure to thrive and Villous atrophy.

Organ System	Phenotype Count	Example Features
Skin	2	Perioral erythema, Perianal erythema

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ADAM17 encodes ADAM metallopeptidase domain 17 (824 aa). Transmembrane metalloprotease which mediates the ectodomain shedding of a myriad of transmembrane proteins including adhesion proteins, growth factor precursors and cytokines important for inflammation and immunity. Highest expression in Cells Cultured fibroblasts (30.3 TPM) and Lung (27.2 TPM).

Inflammatory skin and bowel disease, neonatal, 1 is associated with mutations in the ADAM17 gene on chromosome 2.

ADAM17 is classified as a druggable target (Cell Surface, Druggable Genome, Enzyme, Neutral Zinc Metallopeptidase, Protease, and Transporter categories) with score 4.4.

28 pathogenic variants reported in ADAM17 in ClinVar.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for ADAM17 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for inflammatory skin and bowel disease, neonatal, 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 11 always present features, 2 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for inflammatory skin and bowel disease, neonatal, 1.

8 publications have been identified in PubMed for inflammatory skin and bowel disease, neonatal, 1. Research spans Case Report / Case Series (38%), Epidemiology / Natural History (25%), and Diagnostic / Biomarker (13%).

Recent Publications

Malhi K (2026). [PMID: 42015567](https://pubmed.ncbi.nlm.nih.gov/42015567/). *Pediatr Dermatol*. [Case Report / Case Series]
Negera A (2025). [PMID: 39910213](https://pubmed.ncbi.nlm.nih.gov/39910213/). *Scientific reports*. [Epidemiology / Natural History]
Chang HR (2025). [PMID: 40968583](https://pubmed.ncbi.nlm.nih.gov/40968583/). *Pediatric dermatology*. [Case Report / Case Series]
Karabinos A (2025). [PMID: 40040597](https://pubmed.ncbi.nlm.nih.gov/40040597/). *The Journal of dermatology*. [Epidemiology / Natural History]
Li Q (2024). [PMID: 38596091](https://pubmed.ncbi.nlm.nih.gov/38596091/). *Heliyon*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614328

GARD

Genetic and Rare Diseases Info Center

GARD:18429

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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inflammatory skin and bowel disease, neonatal, 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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