Overview
Neurofibromatosis type 1 (NF1), sometimes called von Recklinghausen disease, is a genetic condition caused by changes (mutations or deletions) in the NF1 gene. This gene normally produces a protein called neurofibromin, which helps control cell growth. When the gene is not working properly, cells can grow in an uncontrolled way, leading to the formation of tumors along nerves throughout the body. These tumors, called neurofibromas, are usually benign (not cancerous), but they can cause a wide range of problems depending on where they grow. NF1 affects many parts of the body. The most recognizable signs are café-au-lait spots — flat, light brown patches on the skin that often appear in early childhood. Other common features include freckling in the armpits or groin, small bumps on or under the skin (neurofibromas), and tiny nodules on the iris of the eye called Lisch nodules. Some people develop learning difficulties, attention problems, or bone abnormalities. In a smaller number of cases, tumors can grow along major nerves (plexiform neurofibromas) and may cause pain, disfigurement, or rarely transform into cancer. There is currently no cure for NF1, but treatment focuses on monitoring for complications and managing symptoms as they arise. In 2020, the FDA approved selumetinib (Koselugo) for children with symptomatic, inoperable plexiform neurofibromas, marking a major advance. Regular check-ups with a team of specialists are essential to catch and address problems early. Many people with NF1 live full, productive lives, especially with proper medical follow-up.
Also known as:
Key symptoms:
Café-au-lait spots (flat light brown skin patches)Freckling in the armpits or groin areaSoft bumps on or under the skin (neurofibromas)Tiny nodules on the colored part of the eye (Lisch nodules)Learning difficulties or trouble with reading and mathAttention deficit and hyperactivityLarger tumors along nerves (plexiform neurofibromas)Bone abnormalities such as bowing of the legsScoliosis (curved spine)High blood pressureShort statureHeadachesVision problems, especially from optic pathway gliomasPain or tingling from nerve tumorsCosmetic concerns from visible skin tumors
Clinical phenotype terms (50)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
10 eventsGirish Dhall, MD — PHASE1
M.D. Anderson Cancer Center
The Hospital for Sick Children — NA
Chia Tai Tianqing Pharmaceutical Group Co., Ltd. — PHASE3
Massachusetts General Hospital — NA
University of Alabama at Birmingham — PHASE2
Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University — PHASE2
Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University — PHASE2
Johns Hopkins University — PHASE1, PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion.
11 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my (or my child's) NF1 based on the type of genetic change found?,What screening tests and how often should they be done to watch for complications?,Are there any signs I should watch for at home that would need urgent medical attention?,Would my child benefit from neuropsychological testing for learning or attention issues?,Is selumetinib or any other treatment appropriate for the tumors we are seeing?,What is the chance of passing NF1 to future children, and is genetic counseling available?,Are there any clinical trials that might be a good fit for my situation?
Common questions about Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
What is Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion?
Neurofibromatosis type 1 (NF1), sometimes called von Recklinghausen disease, is a genetic condition caused by changes (mutations or deletions) in the NF1 gene. This gene normally produces a protein called neurofibromin, which helps control cell growth. When the gene is not working properly, cells can grow in an uncontrolled way, leading to the formation of tumors along nerves throughout the body. These tumors, called neurofibromas, are usually benign (not cancerous), but they can cause a wide range of problems depending on where they grow. NF1 affects many parts of the body. The most recogniz
How is Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion inherited?
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion typically begin?
Typical onset of Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion is childhood. Age of onset can vary across affected individuals.
Are there clinical trials for Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion?
Yes — 11 recruiting clinical trials are currently listed for Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.