U.S. Food and Drug Administration website.NF Clinical Program at St. Louis Children's Hospital,List of radiographic findings associated with cutaneous conditions,List of conditions associated with café au lait macules,Alternatively spliced transcript variants,"Neurofibromatosis 1 Diagnosed in Mother Only after a Follow-up of Her Daughter","About Neurofibromatosis – The University of Chicago Medicine","Neurofibromatosis 1: Current Issues in Diagnosis, Therapy, and Patient Management", by David Viskochil MD PhD, Mountain States Genetic Foundation, Denver 2010,"Malignant peripheral nerve sheath tumours in neurofibromatosis 1",https://jmg.bmj.com/content/jmedgenet/39/5/311.full.pdf,"Skeletal muscle and motor deficits in Neurofibromatosis Type 1","NF1 is a critical regulator of muscle development and metabolism","A clinical study of neurofibromatosis-1 at a tertiary health care centre in south India","Northwestern Health Sciences University ~ Diagnosis and Discussion","Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomized controlled trial","Resection of small plexiform neurofibromas in neurofibromatosis type 1 children",10.1002/(sici)1096-8628(19990326)89:1<31::aid-ajmg7>3.0.co;2-w,10.1002/(sici)1096-8628(19990326)89:1<38::aid-ajmg8>3.0.co;2-m,https://pubmed.ncbi.nlm.nih.gov/31350851/,10.1002/1097-0142(19931101)72:9<2746::AID-CNCR2820720936>3.0.CO;2-W,"Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980–2006 in France","Human Gene NF1 (uc002hgf.1) Description and Page Index","NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype","cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product","Mouse models of neurofibromatosis 1 and 2","Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras","The neurofibromatosis type 1 gene product neurofibromin enhances cell motility by regulating actin filament dynamics via the Rho-ROCK-LIMK2-cofilin pathway","Tumor microenvironment and neurofibromatosis type I: connecting the GAPs","British couple successfully screens out genetic disorder using NHS-funded PGD" by Antony Blackburn-Starza, June 9, 2008, BioNews 461,"Neurofibromatoses: part 1 – diagnosis and differential diagnosis","FDA Approves First Therapy for Children with Debilitating and Disfiguring Rare Disease",https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/213756s000lbl.pdf,GeneReviews/NCBI/NIH/UW entry on Neurofibromatosis 1,GeneReviews/NIH/NCBI/UW entry on Legius syndrome SPRED1 Sprouty-related, EVH1 domain-containing protein 1,WHO classification of the tumors of the central nervous system,EDARADD Hypohidrotic ectodermal dysplasia,intracellular signaling peptides and proteins,https://en.wikipedia.org/w/index.php?title=Neurofibromatosis_type_I&oldid=976063090,Articles containing potentially dated statements from 2015,All articles containing potentially dated statements,Articles with unsourced statements from January 2018,Creative Commons Attribution-ShareAlike License. Sie finden bei uns alle wichtigen Symptome, Therapien, Laborwerte, Untersuchungen, Eingriffe und Medikamente leicht verständlich erklärt. Many infants with Noonan syndrome also have heart defects and additional abnormalities may include malformations of certain blood and lymph vessels, blood clotting and platelet deficiencies, learning difficulties or mild intellectual disability, failure of the testes to descend into the scrotum (cryptorchidism) by the first year of life in affected males, and/or other symptoms and findings. Als Morbus Recklinghausen werden zwei verschiedene Krankheitsentitäten bezeichnet, deren Erstbeschreibung beide auf den deutschen Pathologen Friedrich Daniel von Recklinghausen (1833-1910) zurückgehen. Dural Ectasia in Neurofibromatosis 1: Case Series, Management, and Review. Radiation therapy, chemotherapy, or both treatments may be used by some clinicians to treat NF1-associated tumors, though their role is less clear and depends on tumor type and location. Diese oft länglichen, wurmartigen Tumoren gehen von den großen peripheren Nervenästen aus, welche etwa für die Bewegung von Armen und Beinen verantwortlich sind, zum Beispiel vom Ischiasnerven. 16 Suppl 2 (2003): 289–292. Die Prognose verschlechtert sich, wenn sich aus plexiformen Neurofibromen bösartige Tumoren gebildet haben. In fünf bis zehn Prozent können plexiforme Neurofibrome bösartig werden und sich zu Krebs entwickeln.Weitere Komplikationen, die im Rahmen von Morbus Recklinghausen auftreten, entstehen meist durch Begleiterkrankungen und hängen dann davon ab, welches Organsystem betroffen ist.Die Ursache für Morbus Recklinghausen liegt in den Genen.
Dieses ist maßgeblich daran beteiligt, die Entstehung bestimmter Tumoren zu unterdrücken (Tumorsuppressor).
2013 Aug; 17(6): 489-96.Vranceanu AM, Merker VL, Park E, et al. Einfach. (For more information on this disorder, choose “NF2” as your search term in the Rare Disease Database. 2013; 115: 939-55.Templer AK, Titus JB, Gutmann DH. In some people, life-threatening conditions relating to abnormal blood clotting may develop including deep vein thrombosis and pulmonary embolism. Areas of abnormal skin pigmentation typically include pale tan or light brown discolorations (cafe-au-lait spots), freckling in atypical locations such as under the arms (axillary region) or in the groin (inguinal region). Neurofibromatosis is usually diagnosed in childhood or early adulthood.The tumors are usually noncancerous (benign), but sometimes can become cancerous (malignant). Curr Opin Ophthalmol.