{"orpha":640,"name":"Hereditary neuropathy with liability to pressure palsies","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Current pressure-sensitive neuropathy","HNPP","Heterozygous microdeletion 17p11.2p12","Potato-grubbing palsy","Tomaculous neuropathy","Tulip-bulb digger's palsy"],"definition":"A rare neurologic disease characterized by recurrent mononeuropathies usually triggered by minor physical activities innocuous to healthy people.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-640/","orphanet_url":"https://www.orpha.net/en/disease/detail/640","names":{"fr":{"name":"Neuropathie héréditaire avec hypersensibilité à la pression","synonyms":["HNPP","Microdélétion hétérozygote 17p11.2p12","Neuropathie tomaculaire"],"definition":"Maladie neurologique rare caractérisée par des mononeuropathies récurrentes habituellement déclenchées par des activités physiques mineures, inoffensives pour les personnes en bonne santé."},"de":{"name":"Hereditäre Neuropathie mit Neigung zu Drucklähmungen","synonyms":["HNPP","Hereditären Neuropathie mit Neigung zu Druckläsionen","Mikrodeletion 17p11.2p12, heterozygot","Neuropathie, tomakulöse"],"definition":"Eine seltene neurologische Erkrankung, die durch wiederkehrende Mononeuropathien gekennzeichnet ist, die in der Regel durch geringfügige körperliche Aktivitäten ausgelöst werden, die für gesunde Menschen harmlos sind."},"es":{"name":"Neuropatía hereditaria con susceptibilidad a la parálisis por presión","synonyms":["HNPP","Microdeleción heterocigota 17p11.2p12","Neuropatía sensitiva por presión","Neuropatía tomacular"],"definition":"Es una enfermedad neurológica poco frecuente caracterizada por una mononeuropatía recurrente, típicamente, desencadenada por una actividad física menor inocua en sujetos sanos."},"it":{"name":"Neuropatia ereditaria con predisposizione alle paralisi da pressione","synonyms":["HNPP","Microdelezione 17p11.2p12 eterozigote","Neuropatia sensibile alla pressione in atto","Neuropatia tomaculare","Paralisi da impianto di bulbi di tulipano","Paralisi da raccolta delle patate"],"definition":"La neuropatia ereditaria con predisposizione alle paralisi da pressione (HNPP) è una malattia neurologica rara caratterizzata da mononeuropatie ricorrenti in genere scatenate da lievi attività fisiche, che sono innocue per le persone sane."},"nl":{"name":"Erfelijke drukneuropathie","synonyms":["HNPP","Hereditaire neuropathie met vatbaarheid voor drukverlammingen","Heterozygote microdeletie 17p11.2p12","Tomaculeuze neuropathie"],"definition":"Een zeldzame neurologische ziekte, gekarakteriseerd door terugkerende mononeuropathieën, meestal uitgelokt door geringe fysieke activiteiten die onschadelijk zijn voor gezonde mensen."},"pt":{"name":"Neuropatia hereditária com suscetibilidade a paralisia por pressão","synonyms":["HNPP","Neuropatia tumacolosa","Polineuropatia familiar recorrente"],"definition":"Doença neurológica rara caracterizada por mononeuropatias recorrentes, geralmente desencadeadas por pequenas atividades físicas inofensivas para pessoas saudáveis."},"pl":{"name":"Dziedziczna neuropatia z nadwrażliwością na ucisk","synonyms":["Heterozygotyczna mikrodelecja 17p11.2p12","HNPP"],"definition":"Dziedziczna neuropatia ze skłonnością do porażeń z ucisku (HNPP) jest dziedziczną chorobą nerwów obwodowych, która charakteryzuje się powtarzającą się mononeuropatią, zazwyczaj wywołaną przez, nawet niedużą, aktywność fizyczną."},"cs":{"name":"Tomakulózní neuropatie","synonyms":["Aktuální neuropatie citlivá na tlak","HNPP","Heterozygotní mikrodelece 17p11.2p12","Hereditární neuropatie s tendencí k tlakovým parézám"]},"uk":{"name":"Спадкова нейропатія зі схильністю до паралічу тиску","synonyms":["Сучасна нейропатія, чутлива до тиску","Гетерозиготна мікроделеція 17p11.2p12","HNPP","Параліч чищення картоплі","Томакулярна нейропатія","Параліч копача цибулин тюльпанів"],"definition":"A rare neurologic disease characterized by recurrent mononeuropathies usually triggered by minor physical activities innocuous to healthy people."},"zh":{"name":"遗传性压力易感性周围神经病","synonyms":["17p11.2p12微缺失杂合子"]},"tr":{"name":"Kalıtsal basınca duyarlı nöropati","synonyms":["HNPP","Patates-toplayan felci","Tomakülöz nöropati","Lale soğanı kazıcısı felci","Mevcut basınca-duyarlı nöropati","Heterozigot mikrodelesyon 17p11.2p12"]}},"xrefs":[{"source":"OMIM","code":"162500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2126843932"},{"source":"MONDO","code":"0008087","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536965","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0393814","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5221","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10069382","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140453,"name":"Autosomal dominant hereditary demyelinating motor and sensory neuropathy","classifications":[156,181]},{"orpha":261965,"name":"Partial deletion of the short arm of chromosome 17 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"PMP22","name":"peripheral myelin protein 22","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9118","ensembl":"ENSG00000109099","omim":"601097","loci":["17p12"]},{"symbol":"PMP22","name":"peripheral myelin protein 22","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"9118","ensembl":"ENSG00000109099","omim":"601097","loci":["17p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.5,"area":"Europe","status":"Validated","source":"[EXPERT]_24646194[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":16.0,"area":"Finland","status":"Validated","source":"9447611[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-03","source":"38432886[PMID]_24646194[PMID]","terms":[{"hpo":"HP:0003431","label":"Decreased motor nerve conduction velocity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200101","label":"Decreased/absent ankle reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003738","label":"Exercise-induced myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003704","label":"Scapuloperoneal weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001605","label":"Vocal cord paralysis","frequency":"Occasional (29-5%)","criteria":null}]}}