Rare Medical News

Disease Profile

Neurofibroma

Prevalence
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.

Unknown

Age of onset

-

ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Summary

A neurofibroma is a non-cancerous (benign) tumor that develops from the cells and tissues that cover nerves.[1] Some people who develop neurofibromas have a genetic condition known as neurofibromatosis (NF). There are different types of NF, but type 1 is the most common.

Symptoms

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
30%-79% of people have these symptoms
Enlarged peripheral nerve
0012645
Periarticular subcutaneous nodules
0007470
Plexiform neurofibroma
0009732
Subcutaneous neurofibromas
0100698
5%-29% of people have these symptoms
Abnormal cranial nerve morphology
0001291
Paraspinal neurofibromas
0006751
Peripheral nerve compression
0003406
Spinal canal stenosis
Narrow spinal canal
0003416
Symmetric spinal nerve root neurofibromas
0006851
1%-4% of people have these symptoms
Abnormal biliary tract morphology
0012440
Atypical neurofibromatosis
0007524
Enlargement of parotid gland
0011801
Facial neoplasm
Face tumor
0012289
Intestinal bleeding
0002584
Kyphoscoliosis
0002751
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Multiple intestinal neurofibromatosis
0005220
Neoplasia of the pleura
0100527
Neoplasm of the breast
Breast tumor
Tumours of the breast

[ more ]

0100013
Neoplasm of the trachea
0100551
Palmar neurofibromas
0007576
Peripheral Schwannoma
0009593
Recurrent otitis media
Recurrent middle ear infection
0000403
Spinal meningioma
0100010

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

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In-Depth Information

  • 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.
  • 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 Neurofibroma. Click on the link to view a sample search on this topic.

References

  1. Dictionary of cancer terms. National Cancer Institute Web site. https://www.cancer.gov/publications/dictionaries/cancer-terms?CdrID=45095. Accessed 7/20/2015.