what is nf1 genetic disorder - Search
  1. Also known as: NF
    Content medically reviewed by
    Dr. Rakshith Bharadwajverified specialist
    MD, Internal Medicine
    View full profile onLinkedIn logoLinkedIn
    Complications

    Complications of NF1

    • Neurological Problems
    • Skeletal Problems
    • Vision Problems
    • Cardiovascular Problems
    • Hypertension
    • Short stature
    • Large head
    • Breathing Problems
    • Cancer
    • Benign adrenal gland tumor

    Complications of NF2

    • Partial or total deafness
    • Facial nerve damage
    • Vision problems
    • Small benign skin tumors
    • Weakness or numbness in the extremities
    • Multiple benign tumors or spinal tumors

    Complications of Schwannomatosis

    • Debilitating pain requiring surgical treatment

    Symptoms & Reports
    If you or someone you know is exhibiting symptoms of Neurofibromatosis, seek medical attention immediately.

    Symptoms differ in all the three types of Neurofibromatoses.

    Symptoms for NF1 (These are found in childhood)

    • Presence of flat, light brown spots on The skin
    • Freckling in armpits or groin area
    • Tiny bumps on The iris of eye
    • Soft bumps on or under the skin
    • Bone deformities
    • Tumor on optic nerve
    • Learning disabilities
    • Head size larger than average
    • Short Stature

    Symptoms for NF2 (These are found in teenage)

    • Gradual hearing loss
    • Ringing in The ears
    • Poor balance
    • Head aches
    • Numbness and weakness in arms or legs
    • Facial drop
    • Vision problems
    • Symptoms for Schwannomatosis
    • Chronic pain anywhere in the body
    • Numbness or weakness in various parts of body
    • Loss of Muscle


    Common symptoms and their severity as reported by people on Patientslikeme.

    Symptoms
    Severity Graph
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    (72)
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    (18)
    Last Update : 2024-04-01.
    Seve...
    Mode...
    Mild
    None
    Causes

    • Neurofibromatosis is caused by genetic mutations that are either inherited or are acquired spontaneously.
    • The disease follows an autosomal dominant pattern of inheritance which means that a child can be affected even if one defective gene is inherited.
    • Mutations (defects) in NF1 gene result in abnormal/no neurofibromin protein which causes NF1. defects in NF2 gene cause abnormality in/loss of protein called merlin leading to NF2 disease. Both these proteins have a role in cell growth regulation.
    • The risk factors include:
    • Family history

    Prevention

    There are no preventive measures.

    Source: Focus Medica . For informational purposes only. Consult a medical professional for advice. Learn more

    People also ask

    What does NF1 stand for?
    Cancers (Basel). 2022 Sep 17;14(18) [ PMC free article] [ PubMed] 8. Easton DF, Ponder MA, Huson SM, Ponder BA. An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. Am J Hum Genet. 1993 Aug;53(2):305-13. [ PMC free article] [ PubMed] 9.
    www.ncbi.nlm.nih.gov/books/NBK459358/
    What percentage of people with neurofibromatosis type 1 inherited NF1 gene mutations?
    Approximately 50 percent of people with neurofibromatosis type 1 inherited an altered copy of the nf1 gene from a parent who also has neurofibromatosis type 1.
    www.chop.edu/conditions-diseases/neurofibromatosis-ty…
    What are neurofibromatosis type 1 (NF1) genetic test results?
    Neurofibromatosis type 1 (NF1) genetic test results can also provide important information for other family members. If a mutation responsible for neurofibromatosis type 1 (NF1) syndrome is identified, at-risk relatives (first or second degree relatives) can be tested for the same genetic alteration.
    www.chop.edu/conditions-diseases/neurofibromatosis-ty…
    What is the NF1 gene?
    The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many types of cells, including nerve cells and specialized cells called oligodendrocytes and Schwann cells that surround nerves.
    medlineplus.gov/genetics/gene/nf1/
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  2. Neurofibromatosis - Symptoms and causes - Mayo Clinic

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