{"orpha":1062,"name":"Hereditary neurocutaneous malformation","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare genetic vascular anomaly characterized by the presence of angiomatous lesions affecting the skin, brain, and spinal cord. Lesions of the central nervous system have a marked tendency to bleed. There have been no further descriptions in the literature since 1988.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1062/","orphanet_url":"https://www.orpha.net/en/disease/detail/1062","names":{"fr":{"name":"Malformation neurocutanée héréditaire","definition":"Anomalie vasculaire génétique rare caractérisée par la présence de lésions angiomateuses affectant la peau, le cerveau et la moelle épinière. Les lésions du système nerveux central donnent souvent lieu à des hémorragies. Aucun cas n'a été décrit dans la littérature depuis 1988."},"de":{"name":"Neurokutane Fehlbildung, hereditäre","definition":"Eine seltene genetisch bedingte Gefäßanomalie, die durch angiomatöse Läsionen an Haut, Gehirn und Rückenmark gekennzeichnet ist. Die Läsionen des Zentralnervensystems haben eine ausgeprägte Blutungsneigung. Seit 1988 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Malformación neurocutánea hereditaria","definition":"Es una anomalía vascular de base genética poco frecuente caracterizada por la presencia de lesiones angiomatosas que afectan a la piel, al cerebro y a la médula espinal. Las lesiones del sistema nervioso central presentan una elevada tendencia al sangrado. No ha habido más casos descritos en la literatura desde 1988."},"it":{"name":"Malformazione neurocutanea ereditaria","definition":"Si tratta di un'anomalia vascolare genetica rara, caratterizzata da lesioni angiomatose che interessano la cute, il cervello e il midollo spinale. Le lesioni del sistema nervoso centrale hanno una marcata tendenza alle emorragie. Non sono stati descritti nuovi casi dopo il 1988."},"nl":{"name":"Erfelijke neurocutane malformatie","definition":"Een zeldzame, genetische vasculaire anomalie, gekenmerkt door de aanwezigheid van angiomateuze laesies die huid, hersenen, en ruggenmerg aantasten. Laesies van centraal zenuwstelsel vertonen een sterke neiging tot bloeden. Sinds 1988 verschenen er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Malformação neurocutânea hereditária"},"pl":{"name":"Dziedziczny naczyniak nerwowo-skórny"},"cs":{"name":"Dědičné neurokutánní angiomy"},"uk":{"name":"Спадкова нейрошкірна вада розвитку","definition":"A rare genetic vascular anomaly characterized by the presence of angiomatous lesions affecting the skin, brain, and spinal cord. Lesions of the central nervous system have a marked tendency to bleed. There have been no further descriptions in the literature since 1988."},"zh":{"name":"遗传性神经皮肤畸形"},"tr":{"name":"Kalıtsal nörokutanöz malformasyon"}},"xrefs":[{"source":"OMIM","code":"106070","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D18.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2D.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"182579434"},{"source":"MONDO","code":"0007116","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536364","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1275084","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"676","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":673470,"name":"Benign vascular tumor","classifications":[147,198,202]},{"orpha":166487,"name":"Cerebral diseases of vascular origin with epilepsy","classifications":[156,181]},{"orpha":371436,"name":"Genetic neurovascular malformation","classifications":[156]},{"orpha":98196,"name":"Malformation syndrome with hamartosis","classifications":[147,156]},{"orpha":102006,"name":"Neurovascular malformation","classifications":[181]},{"orpha":459543,"name":"Rare genetic vascular tumor","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"537017[PMID]_3342546[PMID]_7189031[PMID]_998575[PMID]_14186663[PMID]_8929507[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3342546[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002277","label":"Horner syndrome","frequency":"Frequent (79-30%)","criteria":null}]}}