{"orpha":636,"name":"Neurofibromatosis type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Nonmosaic NF1","Nonmosaic neurofibromatosis type 1","Von Recklinghausen disease"],"definition":"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-636/","orphanet_url":"https://www.orpha.net/en/disease/detail/636","names":{"fr":{"name":"Neurofibromatose type 1","synonyms":["Maladie de Recklinghausen","NF1 non mosaïque","Neurofibromatose type 1 non mosaïque"],"definition":"Maladie génétique neurocutanée cliniquement hétérogène caractérisée par des taches café-au-lait, des nodules de Lisch dans l'iris, des taches de rousseur axillaires et inguinales et de multiples neurofibromes."},"de":{"name":"Neurofibromatose Typ 1","synonyms":["NF1","Von Recklinghausen-Erkrankung"],"definition":"Neurofibromatose Typ 1 (NF1) ist eine klinisch heterogene, neurokutane genetische Erkrankung, die durch Café-au-lait-Flecken, Irisknötchen, axilläre und inguinale Sommersprossen und multiple Neurofibrome gekennzeichnet ist."},"es":{"name":"Neurofibromatosis tipo 1","synonyms":["Enfermedad de Von Recklinghausen","NF 1","Neurofibromatosis 1"],"definition":"La neurofibromatosis tipo 1 (NF1) es un trastorno neurocutáneo genético clínicamente heterogéneo y caracterizado por manchas de color café con leche, nódulos de Lisch en el iris, pecas axilares o inguinales y múltiples neurofibromas."},"it":{"name":"Neurofibromatosi tipo 1","synonyms":["Malattia di von Recklinghausen","NF1 non in mosaico","Neurofibromatosi tipo 1 non in mosaico"],"definition":"La neurofibromatosi tipo 1 (NF1) è una malattia genetica neurocutanea, clinicamente eterogenea, caratterizzata da macchie caffè-latte, noduli iridei di Lisch, lentiggini a livello delle ascelle o dell'inguine e neurofibromi multipli."},"nl":{"name":"Neurofibromatose type 1","synonyms":["Niet-mozaïsche NF1","Niet-mozaïsche neurofibromatose type 1","Ziekte van von Recklinghausen"],"definition":"Neurofibromatose type 1 (NF1) is een klinisch heterogene, neurocutane, genetische aandoening gekenmerkt door café-au-lait-vlekken, Lisch-knobbeltjes in de iris, sproeten op oksel en lies en meervoudige neurofibromen."},"pt":{"name":"Neurofibromatose tipo 1","synonyms":["Doença von Recklinghausen","NF 1 não em mosaico","Neurofibromatose não em mosaico"],"definition":"A neurofibromatose tipo 1 (NF1) é uma doença genética neurocutânea clinicamente heterogénea, caracterizada por manchas café com leite, nódulos Lisch na íris, sardas axilares e inguinais e múltiplos neurofibromas."},"pl":{"name":"Neurofibromatoza typu 1","synonyms":["Choroba Von Recklinghausena","Nerwiakowłókniakowatość 1","NF1"],"definition":"Neurofibromatoza typu 1 to klinicznie heterogenna choroba nerwowo-skórna, która charakteryzuje się plamami typu cafe-au-lait, guzkami Lischa na tęczówce, piegowaniem pod pachami i w pachwinach oraz licznymi nerwiakowłókniakami."},"cs":{"name":"Neurofibromatóza, typ 1","synonyms":["NF1","Von Recklinghausenova choroba","Periferní typ neurofibromatózy"]},"uk":{"name":"Нейрофіброматоз, тип 1","synonyms":["Немозаїчний нейрофіброматоз типу 1","Немозаїчний NF1","Хвороба фон Реклінгхаузена"],"definition":"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas."},"zh":{"name":"神经纤维瘤病1型","synonyms":["von Recklinghausen病"]},"tr":{"name":"Nörofibromatoz tip 1","synonyms":["NF1","Von Recklinghausen hastalığı"]}},"xrefs":[{"source":"OMIM","code":"162200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"162210","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613675","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q85.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD2D.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"337970533"},{"source":"MONDO","code":"0018975","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D009456","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0027831","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7866","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10029270","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2029,"name":"Multiple non-ossifying fibromatosis","status":"inactive"},{"type":"Moved to","orpha":3444,"name":"Watson syndrome","status":"inactive"},{"type":"Referred to","orpha":79428,"name":"OBSOLETE: Familial segmental neurofibromatosis","status":"inactive"},{"type":"Referred to","orpha":79429,"name":"OBSOLETE: Familial spinal neurofibromatosis","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183619,"name":"Genetic eye tumor","classifications":[156]},{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":183487,"name":"Genetic skin tumor or hamartoma","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]},{"orpha":166466,"name":"Neurocutaneous syndrome with epilepsy","classifications":[156,181]},{"orpha":634518,"name":"Neurofibromatosis/schwannomatosis","classifications":[156,181,202]},{"orpha":93450,"name":"Primary bone dysplasia with disorganized development of skeletal components","classifications":[147,156,199]},{"orpha":536391,"name":"RASopathy","classifications":[156]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":477771,"name":"Rare disorder with a moyamoya angiopathy","classifications":[156,181]},{"orpha":101950,"name":"Rare eye tumor","classifications":[189,202]},{"orpha":156629,"name":"Rare genetic cause of hypertension","classifications":[156,188]},{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]}],"children":[{"orpha":97685,"name":"17q11 microdeletion syndrome","type":"Clinical subtype"},{"orpha":363700,"name":"Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":363700,"name":"Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion"}},{"symbol":"NF1","name":"neurofibromin 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"7765","ensembl":"ENSG00000196712","omim":"613113","loci":["17q11.2"],"via":{"orpha":97685,"name":"17q11 microdeletion syndrome"}}],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":21.0,"area":"United Kingdom","status":"Validated","source":"20082463[PMID]_2511318[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":24.46,"area":"Finland","status":"Validated","source":"29215653[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":47.5,"area":"New Zealand","status":"Validated","source":"2518509[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":21.3,"area":"Europe","status":"Validated","source":"10991696[PMID]_20082463[PMID]_2511318[PMID]_6807042[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":36.65,"area":"United States","status":"Validated","source":"ISBN:039800370X[OTHER]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":36.9,"area":"United Kingdom","status":"Validated","source":"20082463[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":33.3,"area":"Worldwide","status":"Validated","source":"20301288[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":50.0,"area":"Finland","status":"Validated","source":"25354145[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.7,"area":"Canada","status":"Validated","source":"1685193[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Sweden","status":"Validated","source":"6807042[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-08-10","source":"20301288[PMID]_25030515[PMID]","terms":[{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009592","label":"Astrocytoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007440","label":"Generalized hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009737","label":"Lisch nodules","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012733","label":"Macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002858","label":"Meningioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001012","label":"Multiple lipomas","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009732","label":"Plexiform neurofibroma","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","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":"Diagnostic criterion"},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001100","label":"Heterochromia iridis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030052","label":"Inguinal freckling","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal 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(29-5%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010935","label":"Abnormality of the upper urinary tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100545","label":"Arterial stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005506","label":"Chronic myelogenous leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100723","label":"Gastrointestinal stroma tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002970","label":"Genu 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(29-5%)","criteria":null},{"hpo":"HP:0007378","label":"Neoplasm of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009734","label":"Optic nerve glioma","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002666","label":"Pheochromocytoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100242","label":"Sarcoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","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:0010786","label":"Urinary tract neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100570","label":"Carcinoid tumor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001909","label":"Leukemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002859","label":"Rhabdomyosarcoma","frequency":"Very rare (<4-1%)","criteria":null}]}}