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Diseases » Neurofibromatosis-1 » Summary

What is Neurofibromatosis-1?

What is Neurofibromatosis-1?

  • Neurofibromatosis-1: Genetic disorder often leading to tumors on nerves.
  • Neurofibromatosis-1: Type 1 (peripheral) neurofibromatosis (von Recklinghausen's disease), is the most common type of neurofibromatosis. It is characterized clinically by cutaneous and subcutaneous tumors with patches of hyperpigmentation. The hyperpigmented skin areas, are present from birth and found anywhere on the body surface. They can vary markedly in size and color. The dark brown areas are called cafe-au-lait spots. The multiple cutaneous and subcutaneous tumors are nerve sheath neoplasms, called neurofibromas. They can develop anywhere along the peripheral nerve fibers. Neurofibromas can become quite large, causing a major disfigurement, eroding bone, and compressing various peripheral nerve structures. Type 1 neurofibromatosis has dominant inheritance, with a gene locus on the proximal long arm of chromosome 17. -- 2003
    Source - Diseases Database

Neurofibromatosis-1 is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Neurofibromatosis-1, or a subtype of Neurofibromatosis-1, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Neurofibromatosis-1 as a "rare disease".
Source - Orphanet

Neurofibromatosis-1: Introduction

Types of Neurofibromatosis-1:

Broader types of Neurofibromatosis-1:

How many people get Neurofibromatosis-1?

Prevalance of Neurofibromatosis-1: 1 per 3,000 - 4,000 people suffer from neurofibromatosis type 1 worldwide, Genetics Home Reference website
Prevalance Rate of Neurofibromatosis-1: approx 1 in 3,000 or 0.03% or 90,666 people in USA [about data]

Who gets Neurofibromatosis-1?

Patient Profile for Neurofibromatosis-1: Symptom onset from birth to 10 years

How serious is Neurofibromatosis-1?

Prognosis of Neurofibromatosis-1: NF1 is usually mild, though it can sometimes be severe.
Complications of Neurofibromatosis-1: see complications of Neurofibromatosis-1

What causes Neurofibromatosis-1?

Causes of Neurofibromatosis-1: see causes of Neurofibromatosis-1

What are the symptoms of Neurofibromatosis-1?

Symptoms of Neurofibromatosis-1: see symptoms of Neurofibromatosis-1

Complications of Neurofibromatosis-1: see complications of Neurofibromatosis-1

Can anyone else get Neurofibromatosis-1?

Contagion of genetic conditions: generally not; see details in contagion of genetic diseases.

Inheritance of genetic conditions: see details in inheritance of genetic diseases.

Neurofibromatosis-1: Testing

Diagnostic testing: see tests for Neurofibromatosis-1.

Misdiagnosis: see misdiagnosis and Neurofibromatosis-1.

How is it treated?

Doctors and Medical Specialists for Neurofibromatosis-1: Medical Geneticist, Neurologist, Orthopedic Surgeon ; see also doctors and medical specialists for Neurofibromatosis-1.
Treatments for Neurofibromatosis-1: see treatments for Neurofibromatosis-1
Research for Neurofibromatosis-1: see research for Neurofibromatosis-1

Organs Affected by Neurofibromatosis-1:

Organs and body systems related to Neurofibromatosis-1 include:

Name and Aliases of Neurofibromatosis-1

Main name of condition: Neurofibromatosis-1

Class of Condition for Neurofibromatosis-1: genetic

Other names or spellings for Neurofibromatosis-1:

NF1, neurofibromatosis type 1, Type 1 neurofibromatosis, Recklinghausen's Disease, Von Recklinghausen disease

Von Recklinghausen's disease Source - Diseases Database

Neurofibromatosis type 1, Recklinghausen's Disease, Type 1 neurofibromatosis, Von Recklinghausen disease, Recklinghausen's Disease, Type 1 neurofibromatosis, Von Recklinghausen disease, NF1
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Neurofibromatosis-1: Related Conditions

Research the causes of these diseases that are similar to, or related to, Neurofibromatosis-1:


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