neurofibromatosis 1

neurofibromatosis 1
(NF1) an autosomal dominant disorder due to mutation in the NF1 gene (locus: 17q11.2), which encodes the tumor suppressor neurofibromin; it is marked by developmental changes in the nervous system, muscles, bones, and skin with cafй au lait spots, intertriginous freckling, Lisch nodules, and multiple pedunculated neurofibromas over much of the body. Called also von Recklinghausen disease and peripheral n.

Medical dictionary. 2011.

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  • Neurofibromatosis — Classification and external resources Back of an elderly woman with neurofibromatosis ICD 10 Q …   Wikipedia

  • neurofibromatosis — f. neurol. Facomatosis hereditaria que se transmite de forma autosómica dominante y que se caracteriza por la aparición de manchas cutáneas múltiples, además de neurinomas, ganglioneuromas y neurofibromas. La formación de los tumores u otras… …   Diccionario médico

  • Neurofibromatosis — Este artículo o sección necesita referencias que aparezcan en una publicación acreditada, como revistas especializadas, monografías, prensa diaria o páginas de Internet fidedignas. Puedes añadirlas así o avisar al a …   Wikipedia Español

  • Neurofibromatosis — ► sustantivo femenino MEDICINA Enfermedad caracterizada por la formación de tumores fibrosos en la piel y en los nervios. IRREG. plural neurofibromatosis * * * Las neurofibromatosis son trastornos genéticos del sistema nervioso que afectan… …   Enciclopedia Universal

  • neurofibromatosis — /noor oh fuy broh meuh toh sis, nyoor /, n. Pathol. a dominantly inherited genetic disorder characterized by flat brown patches on the skin, neurofibromas of the skin and internal organs, and in some cases skeletal deformity. [1895 1900; < NL… …   Universalium

  • Neurofibromatosis — Hereditary disorder characterized by cafe au lait (light brown) coffee with milk spots on the skin, and a tendency to develop large tumors on the nerves, skin, and internal organs. Neurofibromatosis may include deformation of the bones and… …   Medical dictionary

  • neurofibromatosis — Tumours of neuronal sheath; the most common genetic disease. Type 1 neurofibromatosis is associated with the the von Recklinghausen Neurofibromatosis locus that encodes the NF 1 protein, a GTPase activating protein which interacts with the ras… …   Dictionary of molecular biology

  • neurofibromatosis 2 — (NF2) an autosomal dominant disorder due to mutation in the NF2 gene (locus: 22q12.2), which encodes the cytoskeletal protein merlin (also called neurofibromin 2), which acts as a tumor suppressor. It is characterized by usually bilateral… …   Medical dictionary

  • neurofibromatosis — n. either of two hereditary conditions inherited as autosomal dominant traits and characterized by benign tumours growing from the fibrous coverings of nerves (see neurofibroma). In neurofibromatosis type I (von Recklinghausen s disease) numerous …   The new mediacal dictionary

  • neurofibromatosis — Eng. Neurofibromatosis Ver enfermedad de Von Recklinghausen …   Diccionario de oftalmología

  • neurofibromatosis — /ˌnjuroʊˌfaɪbrəməˈtoʊsəs/ (say .nyoohroh.fuybruhmuh tohsuhs) noun → von Recklinghausen s disease of multiple neurofibromatosis …  

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