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  2. Neurofibromatosis - Wikipedia

    en.wikipedia.org/wiki/Neurofibromatosis

    Neurofibromatosis type I is the most common of the three types and is caused by genetic changes in the NF1 gene located on chromosome 17 (17q11.2). This gene encodes a cytoplasmic protein known the neurofibromin, which functions as a tumor suppressor and therefore serves as a signal regulator of cell proliferation and differentiation.

  3. Neurofibromatosis type I - Wikipedia

    en.wikipedia.org/wiki/Neurofibromatosis_type_I

    Café au lait spot characteristic of NF1 Diagnostic criteria of neurofibromatosis type I, requiring at least 2 of the mentioned items. [6]The following is a list of conditions and complications associated with NF-1, and, where available, age range of onset and progressive development, occurrence percentage of NF-1 population, method of earliest diagnosis, and treatments and related medical ...

  4. Fibromatosis - Wikipedia

    en.wikipedia.org/wiki/Fibromatosis

    Oncology. The term fibromatosis refers to a group of soft tissue tumors [1] which have certain characteristics in common, including absence of cytologic and clinical malignant features, a histology consistent with proliferation of well-differentiated fibroblasts, an infiltrative growth pattern, and aggressive clinical behavior with frequent ...

  5. Noonan syndrome - Wikipedia

    en.wikipedia.org/wiki/Noonan_syndrome

    1 in 1000 (1 in 2,000 severe disease) [ 4] Named after. Jacqueline Noonan. Noonan syndrome ( NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. [ 1] Facial features include widely spaced eyes, light-colored eyes, low-set ears, a ...

  6. Schwannomatosis - Wikipedia

    en.wikipedia.org/wiki/Schwannomatosis

    Schwannomatosis. Schwannomatosis is an extremely rare genetic disorder closely related to the more-common disorder neurofibromatosis (NF). Originally described in Japanese patients, [1] it consists of multiple cutaneous schwannomas, central nervous system tumors, and other neurological complications, excluding hallmark signs of NF.

  7. Neurofibromatosis type II - Wikipedia

    en.wikipedia.org/wiki/Neurofibromatosis_type_II

    Neurofibromatosis type II (also known as MISME syndrome – multiple inherited schwannomas, meningiomas, and ependymomas) is a genetic condition that may be inherited or may arise spontaneously, and causes benign tumors of the brain, spinal cord, and peripheral nerves. The types of tumors frequently associated with NF2 include vestibular ...

  8. Legius syndrome - Wikipedia

    en.wikipedia.org/wiki/Legius_syndrome

    Legius syndrome ( LS) is an autosomal dominant condition characterized by cafe au lait spots. [3] It was first described in 2007 and is often mistaken for neurofibromatosis type I. It is caused by mutations in the SPRED1 gene. [5] [6] It is also known as neurofibromatosis type 1-like syndrome.

  9. Neurofibromin - Wikipedia

    en.wikipedia.org/wiki/Neurofibromin

    Main symptoms of neurofibromatosis type I [28] Mutations in NF1 are primarily associated with neurofibromatosis type 1 (NF1, also known as von Recklinghausen syndrome). [6] [7] NF1 is the most common single gene disorder in humans, occurring in about 1 in 2500–3000 births worldwide. [29]