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Disease Profile
Neurofibromatosis type 1
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000
Age of onset
Infancy
ICD-10
Q85.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
NF1; Type 1 neurofibromatosis; Recklinghausen's disease;
Categories
Musculoskeletal Diseases; Nervous System Diseases
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
Symptoms
Signs and symptoms may include:[1][3][5]
- Non-cancerous growths along the nerves under the skin (cutaneous neurofibromas)
- Large growths along nerves that may become cancerous (plexiform neuromas)
- Dark spots of skin (café au lait spots)
- Freckling, especially in the underarm and groin
- Pigment in the colored part of the eye (Lisch nodules)
- Learning disabilities
Seizures - Autism spectrum disorder
High blood pressure Short stature - Large head (macrocephaly)
- Curvature of the spine (
scoliosis )
In many cases, the first symptom of neurofibromatosis type 1 (NF1) is multiple small dark colored birth marks known as café-au-lait spots. As they grow older, people with NF1 develop neurofibromas,
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
||
---|---|---|---|---|
80%-99% of people have these symptoms | ||||
Astrocytoma | 0009592 | |||
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 | ||
Generalized hyperpigmentation | 0007440 | |||
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |||
Lisch nodules | 0009737 | |||
Macule |
Flat, discolored area of skin
|
0012733 | ||
Melanocytic nevus |
Beauty mark
|
0000995 | ||
Meningioma | 0002858 | |||
Multiple cafe-au-lait spots | 0007565 | |||
Multiple lipomas |
Multiple fatty lumps
|
0001012 | ||
Plexiform neurofibroma | 0009732 | |||
Specific learning disability | 0001328 | |||
Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] |
0001482 | ||
30%-79% of people have these symptoms | ||||
0001251 | ||||
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 | ||
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 | ||
Freckling | 0001480 | |||
Genu valgum |
Knock knees
|
0002857 | ||
Headache |
Headaches
|
0002315 | ||
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 | ||
Heterochromia iridis |
Different colored eyes
|
0001100 | ||
Memory impairment |
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ] |
0002354 | ||
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 | ||
Paresthesia |
Pins and needles feeling
Tingling
[ more ] |
0003401 | ||
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 | ||
Recurrent fractures |
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] |
0002757 | ||
Skeletal dysplasia | 0002652 | |||
Slender long bone |
Long bones slender
Thin long bones
[ more ] |
0003100 | ||
Tall stature |
Increased body height
|
0000098 | ||
5%-29% of people have these symptoms | ||||
Abnormal electroretinogram | 0000512 | |||
Abnormal eyelid morphology |
Abnormality of the eyelid
Abnormality of the eyelids
[ more ] |
0000492 | ||
Abnormal hair quantity | 0011362 | |||
Abnormality of retinal pigmentation | 0007703 | |||
Abnormality of the hip bone |
Abnormality of the hips
|
0003272 | ||
Abnormality of the respiratory system | 0002086 | |||
Abnormality of the upper urinary tract | 0010935 | |||
Arterial stenosis |
Narrowing of an artery
|
0100545 | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |||
Chorioretinal coloboma |
Birth defect that causes a hole in the innermost layer at the back of the eye
|
0000567 | ||
Chronic myelogenous leukemia | 0005506 | |||
Corneal opacity | 0007957 | |||
Genu varum |
Outward bow-leggedness
Outward bowing at knees
[ more ] |
0002970 | ||
0000501 | ||||
Too much cerebrospinal fluid in the brain
|
0000238 | |||
Hypertension | 0000822 | |||
Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 | ||
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 | ||
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 | ||
Macrocephaly |
Large head circumference
Large head
Increased size of skull
[ more ] |
0000256 | ||
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 | ||
Neoplasm of the gastrointestinal tract |
Gastrointestinal tract tumor
GI tract tumor
[ more ] |
0007378 | ||
Pheochromocytoma | 0002666 |
Conditions with similar signs and symptoms from Orphanet
|
---|
Legius syndrome (see this term) is often clinically indistinguishable from NF1 and is seen in about 2% of people fulfilling NF1 diagnostic criteria. There are however a small number of individuals with NF1 who like Legius syndrome patients do not develop non-pigmentary manifestations. Constitutional mismatch repair deficiency syndrome should be considered. Other differential diagnoses include McCune-Albright syndrome, Noonan syndrome with lentigines and Proteus syndrome. Most cases of multiple non-ossifying fibromatosis are cases of NF1 (see these terms).
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Children's Tumor Foundation (CTF)
120 Wall Street, 16th floor
New York, NY 10005-3904
Toll-free: 1-800-323-7938
Telephone: +1-212-344-6633
Fax: +1-212-747-0004
E-mail: [email protected]
Website: https://www.ctf.org/ -
Nerve Tumours UK
1st Floor
44 Coombe Lane
London, SW20 0LA United Kingdom
Toll-free: 07939 046 030 (Helpline)
Telephone: 44(0)208 439 1234
E-mail: [email protected]
Website: https://nervetumours.org.uk -
Neurofibromatosis Network
213 S. Wheaton Ave.
Wheaton, IL 60187
Toll-free: 1-800-942-6825
Telephone: +1-630-510-1115
Fax: +1-630-510-8505
E-mail: [email protected]
Website: https://www.nfnetwork.org/ -
Tumour Foundation of BC
19172 Fourth Avenue PO
Vancouver, BC, V6K 4R8 Canada
Toll-free: 1-800-385-2263
E-mail: [email protected]
Website: https://www.tumourfoundation.ca
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Neurofibromatosis type 1. This website is maintained by the National Library of Medicine.
- The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Neurofibromatosis type 1. Click on the link to view a sample search on this topic.
References
- Friedman JM. Neurofibromatosis 1. GeneReviews. Updated June 2019; https://www.ncbi.nlm.nih.gov/books/NBK1109/.
- Korf BR, Lobbous M, Metrock LK. Neurofibromatosis type 1 (NF1): Management and prognosis. UpToDate. Updated Dec 2, 2019; https://www.uptodate.com/contents/neurofibromatosis-type-1-nf1-management-and-prognosis.
- Ly KI, Blakeley JO. The Diagnosis and Management of Neurofibromatosis Type 1. Med Clin North Am. Nov 2019; 103(6):1035-1054. https://pubmed.ncbi.nlm.nih.gov/31582003.
- Giugliano T, Santoro C, Torella A, Del Vecchio Blanco F, Grandone A et al. Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.. Genes (Basel). Jul 31, 2019; 10(8):580. https://pubmed.ncbi.nlm.nih.gov/31370276.
- Bruce R Korf, MD, PhD. Neurofibromatosis type 1 (NF1): Pathogenesis, clinical features, and diagnosis. UpToDate. June 2015; Accessed 7/19/2015.
- National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md., USA July 13-15, 1987. Neurofibromatosis. 1988; 1(3):172-178. https://pubmed.ncbi.nlm.nih.gov/3152465.
- Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR. AAP COUNCIL ON GENETICS, AAP AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS. Health Supervision for Children With Neurofibromatosis Type 1.. Pediatrics. May 2019; 143(5):e20190660. https://pubmed.ncbi.nlm.nih.gov/31010905.
- Stewart DR, Korf BR, Nathanson KL, Stevenson DA, Yohay K. Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. Jul 2018; 20(7):671-82. https://pubmed.ncbi.nlm.nih.gov/30006586.
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