{"orpha":970,"name":"Hereditary sensory and autonomic neuropathy type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive sensory radicular neuropathy","HSAN2","Hereditary sensory and autonomic neuropathy type II","Neurogenic acroosteolysis"],"definition":"A rare hereditary sensory and autonomic neuropathy characterized by profound and universal sensory loss involving large and small fiber nerves.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-970/","orphanet_url":"https://www.orpha.net/en/disease/detail/970","names":{"fr":{"name":"Neuropathie héréditaire sensitive et autonomique type 2","synonyms":["Acro-ostéolyse neurogénique","HSAN2","NHSA2","Neuropathie radiculaire sensitive autosomique récessive"],"definition":"Neuropathie héréditaire sensitive et autonomique rare caractérisée par une perte sensorielle profonde et universelle affectant les fibres nerveuses de petit et de grand calibre."},"de":{"name":"Neuropathie, autonome hereditäre sensorische, Typ 2","synonyms":["Akroosteolyse, neurogene","HSAN2","Neuropathie, autonome hereditäre sensorische, Typ II","Neuropathie, radikuläre sensorische, autosomal-rezessive"],"definition":"Eine seltene hereditäre sensorische und autonome Neuropathie, mit erheblich und allgemein eingeschränkter Sensibilität (unter Einbeziehung der großen und kleinen Nervenfasern)."},"es":{"name":"Neuropatía sensitiva autonómica hereditaria tipo 2","synonyms":["Acroosteólisis neurogénica","HSAN2","Neuropatía radicular sensitiva autosómica recesiva","Neuropatía sensitiva autonómica hereditaria tipo II"],"definition":"Es una neuropatía hereditaria sensitiva y autonómica poco frecuente caracterizada por una pérdida sensitiva global profunda que afecta a fibras de grueso y pequeño calibre."},"it":{"name":"Neuropatia sensoriale e autonoma ereditaria tipo 2","synonyms":["Acro-osteolisi neurogena","HSAN 2","Neuropatia radicolare sensoriale autosomica recessiva"],"definition":"Si tratta di una neuropatia sensoriale e autonoma ereditaria rara, caratterizzata da perdita sensoriale profonda e generalizzata, che interessa le fibre nervose piccole e grandi."},"nl":{"name":"Erfelijke sensorische en autonome neuropathie type 2","synonyms":["Autosomaal recessieve sensorische radiculaire neuropathie","Erfelijke sensorische en autonome neuropathie type II","HSAN 2","Neurogene acro-osteolyse"],"definition":"Een zeldzame, erfelijke sensorische en autonome neuropathie gekarakteriseerd door totaal en universeel zintuiglijk verlies met betrokkenheid van kleine en grote zenuwvezels."},"pt":{"name":"Neuropatia sensitiva e autonómica hereditária tipo 2","synonyms":["Acrosteólise neurogénica","Doença de Morvan","Neuropatia radicular sensitiva forma recessiva"]},"pl":{"name":"Dziedziczna neuropatia czuciowa i autonomiczna typu 2","synonyms":["HSAN2","Akroosteoliza neurogenna","Autosomalna recesywna czuciowa neuropatia korzeniowa","Dziedziczna neuropatia czuciowa i autonomiczna typu II"]},"cs":{"name":"Hereditární senzorická a autonomní neuropatie II","synonyms":["HSAN2","Neurogenní akroosteolýza","HSAN II","Autozomálně recesivní senzorická radikulární neuropatie"]},"uk":{"name":"Спадкова сенсорна та вегетативна нейропатія, тип 2","synonyms":["Аутосомно-рецесивна сенсорна корінцева нейропатія","Спадкова сенсорна та автономна нейропатія II типу","HSAN2","Нейрогенний акроостеоліз"],"definition":"A rare hereditary sensory and autonomic neuropathy characterized by profound and universal sensory loss involving large and small fiber nerves."},"zh":{"name":"遗传性感觉和自主神经病2型","synonyms":["遗传性感觉和自主神经病2型"]},"tr":{"name":"Kalıtsal duyusal ve otonom nöropati tip 2","synonyms":["HSAN2","Nörojenik akroosteoliz","Otozomal Çekinik duyusal radiküler nöropati","Kalıtsal duyusal ve otonom nöropati tip II"]}},"xrefs":[{"source":"OMIM","code":"201300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"243000","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613115","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614213","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C21.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2016844157"},{"source":"MONDO","code":"0019941","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0020072","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3976","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140477,"name":"Autosomal recessive hereditary sensory and autonomic neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"KIF1A","name":"kinesin family member 1A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21089229[PMID]","hgnc":"888","ensembl":"ENSG00000130294","omim":"601255","loci":["2q37.3"]},{"symbol":"RETREG1","name":"reticulophagy regulator 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21089229[PMID]","hgnc":"25964","ensembl":"ENSG00000154153","omim":"613114","loci":["5p15.1"]},{"symbol":"SCN9A","name":"sodium voltage-gated channel alpha subunit 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23596073[PMID]","hgnc":"10597","ensembl":"ENSG00000169432","omim":"603415","loci":["2q24.3"]},{"symbol":"WNK1","name":"WNK lysine deficient protein kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21089229[PMID]","hgnc":"14540","ensembl":"ENSG00000060237","omim":"605232","loci":["12p13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003103","label":"Abnormal cortical bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003028","label":"Abnormality of the ankles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001842","label":"Acroosteolysis (feet)","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008391","label":"Dystrophic fingernails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001810","label":"Dystrophic toenail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Very frequent (99-80%)","criteria":null}]}}