Synonyms: Von Recklinghausen disease due to NF1 mutation or intragenic deletion
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2026
Newly diagnosed with
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Cache DNA
At Cache, we are on a mission to store the biomolecules of today in order to unlock the possibilities of tomorrow. Our vision is to create a scalable, sustainable, and standardized platform for reliable storage and access of biomolecules by combining chemistry, biology, automation, and computational tools to support patient advocacy groups worldwide and better connect samples to insights.
Childhood Tumour Trust
Childhood Tumour Trust arepassionate about empowering children, young people and their families and carers affected by the genetic condition Neurofibromatosis Type 1. We run activity camps for children, organise family days out, run online classes, help provide counselling and produce information resources about NF1. We also campaign to raise awareness and improve pathways of care.
Genetic Epilepsy Team Australia
Collaboration of research and care
Littlest Tumor Foundation
Our mission is to increase understanding of neurofibromatosis (NF), empower affected families, and advance research of preventative therapies.
Neurofibrosis Midwest
NF Midwest is committed to improving the lives of children, adults, and families impacted by neurofibromatosis. Our continued focus and foundation is on Clinics, Awareness, Research, Education and Support in the states of Illinois, Indiana, Iowa, Kentucky, Wisconsin, and Missouri.
RASopathies Network
Our mission is to advance research to improve the quality of life for RASopathy families by bringing together clinicians, scientists, and families.
Rare Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
For a list of clinical trials in this disease area, please click here.