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

neurofibromatosis type 1 due to NF1 mutation or intragenic deletion - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

MONDO:0018208

Also known as:Von Recklinghausen disease due to NF1 mutation or intragenic deletion

Overview

Diagnosis

Biomarker and diagnostic research for neurofibromatosis type 1 due to NF1 mutation or intragenic deletion has been reported in the published literature.

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 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion.

201 publications have been identified in PubMed for neurofibromatosis type 1 due to NF1 mutation or intragenic deletion. Research spans Basic Science / Preclinical (37%), Case Report / Case Series (17%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Laboratory research	65	37%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:51 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Financial & Access Support (External Programs)

View all programs →

Neurofibromatosis Type 1 (NF1) Medical Assistance

Medical AssistanceCurrently AcceptingOperated by National Organization for Rare Disorders

Visit official site

Program availability and eligibility requirements are set by each foundation. Contact them directly to learn more about your options.

Are you a patient organization for this condition?

Claim this page and your organization will be listed here for patients and families to find.

Be recognized as the official organization
Get notified of new trials, FDA decisions, and research
Appear in the disease page directory
Embed this content on your website — free

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:363700

GARD

Genetic and Rare Diseases Info Center

GARD:17570

Questions for Your Care Team

→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

neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

Overview

Diagnosis

Research Landscape

Patient Support

Financial & Access Support (External Programs)

Are you a patient organization for this condition?

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications