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Neurofibromatosis type I (NF-1), or von Recklinghausen syndrome, is a complex multi-system human disorder caused by the mutation of neurofibromin 1 (NF-1), a gene on chromosome 17 that is responsible for production of a protein (neurofibromin) which is needed for normal function in many human cell types. NF-1 causes tumors along the nervous ...
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.
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 ...
Frequency. rare (estimated at 1:46,000-1:75,000) [2] 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.
The classification of mental disorders, also known as psychiatric nosology or psychiatric taxonomy, is central to the practice of psychiatry and other mental health professions. The two most widely used psychiatric classification systems are chapter V of the International Classification of Diseases, 10th edition (ICD-10), produced by the World ...
DSM-5. The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), is the 2013 update to the Diagnostic and Statistical Manual of Mental Disorders, the taxonomic and diagnostic tool published by the American Psychiatric Association (APA). In 2022, a revised version (DSM-5-TR) was published. [1]
The Diagnostic and Statistical Manual of Mental Disorders (DSM; latest edition: DSM-5-TR, published in March 2022 [1]) is a publication by the American Psychiatric Association (APA) for the classification of mental disorders using a common language and standard criteria. It is an internationally accepted manual on the diagnosis and treatment of ...
This is a list of major and frequently observed neurological disorders (e.g., Alzheimer's disease), symptoms (e.g., back pain), signs (e.g., aphasia) and syndromes (e.g., Aicardi syndrome). There is disagreement over the definitions and criteria used to delineate various disorders and whether some of these conditions should be classified as ...