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Neurofibromatosis type 1
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Disease at a Glance
Summary
Neurofibromatosis type 1 (NF1) is a genetic condition that affects the skin, the skeleton and the part of the nervous system outside the brain and spinal cord peripheral nervous system). The main signs and symptoms of NF1 include dark colored spots on the skin (café-au-lait spots), benign growths along the nerves (neurofibromas), and freckles in the underarm and groin. Other symptoms may include colored spots in the eye (Lisch nodules), curvature of the spine, learning disabilities, and an increased risk for cancer. The number of neurofibromas typically increases over time, and some can get large or turn cancerous and need to be removed. The severity and symptoms can vary greatly from person to person. This condition is caused by genetic changes (DNA variants) in the NF1 gene and is inherited in an autosomal dominant pattern. NF1 is diagnosed based on a clinical examination, the specific signs and symptoms, and genetic testing.
Estimated Number of People with this Disease
In the U.S. there may be between
30,000 to 200,000
What Information Does GARD Have For This Disease?
Many rare diseases have limited information. Currently GARD is able to provide the following information for this disease:
*Data may be currently unavailable to GARD at this time.
When do symptoms of this disease begin?
The most common ages for symptoms of a disease to begin is called age of onset. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any time during a person's life.
Prenatal
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
1-23 months
Child
2-11 years
Adolescent
12-18 years
Adult
19-65 years
Older Adult
65+ years
The common ages for symptoms to begin in this disease are shown above by the colored icon(s).
Symptoms
These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom.
This disease might cause these symptoms:
This disease might cause these symptoms:
Nervous System
69 Symptoms
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Nervous System
The nervous system is made up of the brain, spinal cord, and nerves. Common symptoms of problems in the nervous system include trouble moving, speaking, swallowing, breathing, or learning. Problems with memory, senses, or mood may also occur. Nervous system diseases are usually diagnosed and treated by neurologists.
69 Symptoms
Causes
This section is currently in development.
Inheritance
All individuals inherit two copies of most genes. The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease is inherited in the following pattern(s):
Questions:
Autosomal dominant inheritance
Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). Genes, like chromosomes, usually come in pairs. Dominant means that only one copy of the responsible gene (causal gene) must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.
In some cases, a person inherits the pathogenic variant from a parent who has the genetic disease. In other cases, the disease occurs because of a new pathogenic variant (de novo) in the causal gene and there is no family history of the disease.
Each child of an individual with an autosomal dominant disease has a 50% (1 in 2) chance of inheriting the variant and the disease. Typically, children who inherit a dominant variant will have the disease, but they may be more or less severely impacted than their parent. Sometimes a person may have a pathogenic variant for an autosomal dominant disease and show no signs or symptoms of the disease.Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). Genes, like chromosomes, usually come in pairs. Dominant means that only one copy of the responsible gene (causal gene) must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.
In some cases, a person inherits the pathogenic variant from a parent who has the genetic disease. In other cases, the disease occurs because of a new pathogenic variant (de novo) in the causal gene and there is no family history of the disease.
Each child of an individual with an autosomal dominant disease has a 50% (1 in 2) chance of inheriting the variant and the disease. Typically, children who inherit a dominant variant will have the disease, but they may be more or less severely impacted than their parent. Sometimes a person may have a pathogenic variant for an autosomal dominant disease and show no signs or symptoms of the disease.
In some cases, a person inherits the pathogenic variant from a parent who has the genetic disease. In other cases, the disease occurs because of a new pathogenic variant (de novo) in the causal gene and there is no family history of the disease.
Each child of an individual with an autosomal dominant disease has a 50% (1 in 2) chance of inheriting the variant and the disease. Typically, children who inherit a dominant variant will have the disease, but they may be more or less severely impacted than their parent. Sometimes a person may have a pathogenic variant for an autosomal dominant disease and show no signs or symptoms of the disease.Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). Genes, like chromosomes, usually come in pairs. Dominant means that only one copy of the responsible gene (causal gene) must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.
In some cases, a person inherits the pathogenic variant from a parent who has the genetic disease. In other cases, the disease occurs because of a new pathogenic variant (de novo) in the causal gene and there is no family history of the disease.
Each child of an individual with an autosomal dominant disease has a 50% (1 in 2) chance of inheriting the variant and the disease. Typically, children who inherit a dominant variant will have the disease, but they may be more or less severely impacted than their parent. Sometimes a person may have a pathogenic variant for an autosomal dominant disease and show no signs or symptoms of the disease.
Next Steps
Talking with the Medical Team
Good communication between the patient, family, and medical team can lead to an accurate diagnosis. In addition, health care decisions can be made together which improves the patient’s well-being and quality of life.
The National Library of Medicine's Unified Medical Language System (UMLS) is used to classify and organize diseases and disease categories.
Data from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more.
National Academies of Sciences, Engineering, and Medicine. 2015. Improving Diagnosis in Health Care. Washington, DC: The National Academies Press.
U.S. Department of Health and Human Services, Office of Disease Prevention and Health Promotion. (2015). Health Literacy Online: A Guide for Simplifying the User Experience.
- Reference: Access aggregated data from Orphanet at Orphadata. Orphanet is an online database of rare diseases and orphan drugs. Copyright, INSERM 1997.
- Reference: Download data from HPO. Kohler S, Gargano M, Matentzoglu N, et al., The Human Phenotype Ontology in 2021, Nucleic Acids Research, Volume 49, Issue D1, 8 January 2021, Pages D1207–D1217.
- Reference: MedGen Data Downloads and FTP
- Reference: Data from the Newborn Screening Coding and Terminology Guide is available here. Downs SM, van Dyck PC, Rinaldo P, et al. Improving newborn screening laboratory test ordering and result reporting using health information exchange . J Am Med Inform Assoc. 2010 Jan-Feb;17(1):13-8.
National Academies of Sciences, Engineering, and Medicine. 2015. Improving Diagnosis in Health Care. Washington, DC: The National Academies Press.
U.S. Department of Health and Human Services, Office of Disease Prevention and Health Promotion. (2015). Health Literacy Online: A Guide for Simplifying the User Experience.
Last Updated: Nov. 8, 2021