{"orpha":363700,"name":"Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Von Recklinghausen disease due to NF1 mutation or intragenic deletion"],"definition":null,"note":"This disease is described under Neurofibromatosis type 1","url":"https://raremap.alftech.space/d/ORPHA-363700/","orphanet_url":"https://www.orpha.net/en/disease/detail/363700","names":{"fr":{"name":"Neurofibromatose type 1 par mutation ou délétion intragénique de NF1","synonyms":["Maladie de Recklinghausen par mutation ou délétion intragénique de NF1"]},"de":{"name":"Neurofibromatose Typ 1 durch NF1-Genmutation oder intragenische Deletion","synonyms":["Von Recklinghausen-Krankheit durch NF1-Genmutation oder intragenische Deletion"]},"es":{"name":"Neurofibromatosis tipo 1 por una mutación en el gen NF1 o una deleción intragénica","synonyms":["Enfermedad de Von Recklinghause por una mutación en el gen NF1 o una deleción intragénica"]},"it":{"name":"Neurofibromatosi tipo 1 da mutazione o delezione intragenica di NF1","synonyms":["Malattia di von Recklinghausen da mutazione o delezione intragenica di NF1"]},"nl":{"name":"Neurofibromatose type 1 door NF1-mutatie of intragenische deletie","synonyms":["Ziekte van Von Recklinghausen door NF1-mutatie of intragenische deletie"]},"pt":{"name":"Neurofibromatose tipo 1 por mutação ou deleção intragénica em NF1"},"pl":{"name":"Neurofibromatoza typu 1 spowodowana mutacją NF1 lub delecją wewnątrzgenową","synonyms":["Choroba von Recklinghausena spowodowana mutacją NF1 lub delecją wewnątrzgenową"]},"cs":{"name":"Neurofibromatóza typ 1 způsobená mutacemi nebo intragenovými delecemi NF1 genu","synonyms":["Von Recklinghausenova nemoc způsobená mutacemi nebo intragenovými delecemi NF1 genu"]},"uk":{"name":"Нейрофіброматоз тип 1, зумовлений мутацією або внутрішньогенною делецією NF1","synonyms":["Хвороба фон Реклінггаузена внаслідок мутації або внутрішньогенної делеції NF1"]},"zh":{"name":"NF1基因突变或基因内缺失所致神经纤维瘤病1型","synonyms":["NF1基因突变或基因内缺失所致Von Recklinghausen病"]},"tr":{"name":"NF1 mutasyonu veya intragenik delesyon kaynaklı nörofibromatozis tip 1","synonyms":["NF1 mutasyonu veya intragenik delesyonuna bağlı Von Recklinghausen hastalığı"]}},"xrefs":[{"source":"OMIM","code":"162200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q85.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018208","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5779636","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":636,"name":"Neurofibromatosis type 1","classifications":[147,156,181,187,188,189,199,202,233]}],"children":[],"genes":[{"symbol":"NF1","name":"neurofibromin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301288[PMID]","hgnc":"7765","ensembl":"ENSG00000196712","omim":"613113","loci":["17q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-20","source":"28213670[PMID]_26338194[PMID]_20513137[PMID]_29618358[PMID]","terms":[{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000997","label":"Axillary freckling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012062","label":"Bone cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000475","label":"Broad neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030052","label":"Inguinal freckling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009737","label":"Lisch nodules","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001833","label":"Long foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011407","label":"Proportionate tall stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009088","label":"Speech articulation difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100698","label":"Subcutaneous neurofibromas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012210","label":"Abnormal renal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006479","label":"Abnormality of the dental pulp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0430022","label":"Abnormality of the sphenoid sinus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010794","label":"Impaired visuospatial constructive cognition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100697","label":"Neurofibrosarcoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009734","label":"Optic nerve glioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002057","label":"Prominent glabella","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009735","label":"Spinal neurofibromas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032252","label":"Granuloma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0020035","label":"Lower limb dysmetria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030426","label":"Ossifying fibroma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100008","label":"Schwannoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very rare (<4-1%)","criteria":null}]}}