Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

inflammatory skin and bowel disease, neonatal, 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

inflammatory skin and bowel disease, neonatal, 2

MONDO:0014481

Also known as:EGFR neonatal inflammatory skin and bowel diseaseinflammatory skin and bowel disease, neonatal, type 2neonatal inflammatory skin and bowel disease caused by mutation in EGFR

Overview

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

GeneticsAutosomal recessive · EGFR (chr 7)

ResearchLimited published research (4 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: Polyhydramnios, Increased circulating IgE concentration, Pustule, and Coarctation of aorta and others. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	2	Vomiting, Secretory diarrhea

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.

EGFR encodes epidermal growth factor receptor (1,210 aa). Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses. Highest expression in Skin Sun Exposed Lower leg (78.3 TPM) and Skin Not Sun Exposed Suprapubic (75.9 TPM).

Inflammatory skin and bowel disease, neonatal, 2 is associated with mutations in the EGFR gene on chromosome 7.

The EGFR protein participates in EGFR E746_S752delinsV, EGFR L747_A750delinsP, and EGFR D770_N771insNPG pathways.

EGFR is classified as a druggable target (Cell Surface, Clinically Actionable, Drug Resistance, Druggable Genome, Kinase, and Tyrosine Kinase categories) with score 1.4.

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 EGFR is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for inflammatory skin and bowel disease, neonatal, 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 10 always present 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, 2.

4 publications have been identified in PubMed for inflammatory skin and bowel disease, neonatal, 2. Research spans Case Report / Case Series (50%), Diagnostic / Biomarker (25%), and Epidemiology / Natural History (25%).

Recent Publications

Chang HR (2026). [PMID: 40968583](https://pubmed.ncbi.nlm.nih.gov/40968583/). *Pediatr Dermatol*. [Case Report / Case Series]
Karabinos A (2025). [PMID: 40040597](https://pubmed.ncbi.nlm.nih.gov/40040597/). *J Dermatol*. [Case Report / Case Series]
Negera A (2025). [PMID: 39910213](https://pubmed.ncbi.nlm.nih.gov/39910213/). *Sci Rep*. [Epidemiology / Natural History]
Niehues T (2024). [PMID: 39381601](https://pubmed.ncbi.nlm.nih.gov/39381601/). *Allergol Select*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:46 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616069

GARD

Genetic and Rare Diseases Info Center

GARD:18430

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?

← Back to All Diseases

inflammatory skin and bowel disease, neonatal, 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features