{"orpha":36386,"name":"Hereditary sensory and autonomic neuropathy type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary sensory and autonomic neuropathy type I","HSAN1"],"definition":"A rare slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances in some patients, autosomal dominant inheritance, and juvenile or adulthood disease onset.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-36386/","orphanet_url":"https://www.orpha.net/en/disease/detail/36386","names":{"fr":{"name":"Neuropathie héréditaire sensitive et autonomique type 1","synonyms":["HSAN1","NHSA1","Neuropathie héréditaire sensitive et autonomique type I"],"definition":"Maladie neurologique rare à progression lente et début juvénile ou adulte caractérisée par une perte sensitive à prédominance distale, des troubles autonomiques chez certains patients et une transmission autosomique dominante."},"de":{"name":"Neuropathie, autonome hereditäre sensorische, Typ 1","synonyms":["HSAN1","Neuropathie, autonome hereditäre sensorische, Typ I"],"definition":"Eine seltene neurologische Erkrankung, die langsam fortschreitet und sich durch einen ausgeprägten, vorwiegend distalen sensorischen Verlust sowie autonome Störungen bei einigen Patienten auszeichnet."},"es":{"name":"Neuropatía sensitiva autonómica hereditaria tipo 1","synonyms":["HSAN1","Neuropatía sensitiva autonómica hereditaria tipo I"],"definition":"Es un trastorno neurológico poco frecuente de progresión lenta caracterizado por una importante pérdida sensitiva predominantemente distal, alteraciones autonómicas en algunos pacientes, herencia autosómica dominante y aparición de la enfermedad en la juventud o en la edad adulta."},"it":{"name":"Neuropatia autonomica e sensoriale ereditaria, tipo 1"},"nl":{"name":"Erfelijke sensorische en autonome neuropathie type 1","synonyms":["Erfelijke sensorische en autonome neuropathie type I","HSAN 1"],"definition":"Een zeldzame traag progressieve neurologische aandoening, gekenmerkt door prominent hoofdzakelijk distaal zintuiglijk verlies, autonome stoornissen bij sommige patiënten, autosomaal dominante overerving, en juveniele of volwassen aanvang."},"pt":{"name":"Neuropatia autonómica e sensitiva hereditária tipo 1","synonyms":["Doença de Morvan"],"definition":"Doença neurológica rara, de progressão lenta, caracterizado por perda sensorial predominantemente distal, distúrbios autonómicos em alguns doentes, hereditariedade autossómica dominante e início da doença na juventude ou na idade adulta."},"pl":{"name":"Dziedziczna neuropatia czuciowa i autonomiczna typu 1","synonyms":["HSAN1","Dziedziczna neuropatia czuciowa i autonomiczna typu I"]},"cs":{"name":"Hereditární senzorická a autonomní neuropatie, typ 1","synonyms":["Hereditary sensory and autonomic neuropathy type I","HSAN1"]},"uk":{"name":"Спадкова сенсорна та вегетативна нейропатія, тип 1","synonyms":["Спадкова сенсорна та автономна нейропатія I типу","HSAN1"],"definition":"A rare slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances in some patients, autosomal dominant inheritance, and juvenile or adulthood disease onset."},"zh":{"name":"遗传性感觉和自主神经病变1型","synonyms":["遗传性感觉和自主神经病I型"]},"tr":{"name":"Kalıtsal duyusal ve otonom nöropati tip 1","synonyms":["HSAN1","Kalıtsal duyusal ve otonom nöropati tip I"]}},"xrefs":[{"source":"OMIM","code":"162400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613640","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613708","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615632","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C21.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1989773046"},{"source":"MONDO","code":"0018213","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0020071","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6635","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140474,"name":"Autosomal dominant hereditary sensory and autonomic neuropathy","classifications":[156,181]},{"orpha":352309,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ATL1","name":"atlastin GTPase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21194679[PMID]","hgnc":"11231","ensembl":"ENSG00000198513","omim":"606439","loci":["14q22.1"]},{"symbol":"ATL3","name":"atlastin GTPase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24459106[PMID]","hgnc":"24526","ensembl":"ENSG00000184743","omim":"609369","loci":["11q13.1"]},{"symbol":"SPTLC1","name":"serine palmitoyltransferase long chain base subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11242114[PMID]","hgnc":"11277","ensembl":"ENSG00000090054","omim":"605712","loci":["9q22.31"]},{"symbol":"SPTLC2","name":"serine palmitoyltransferase long chain base subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20920666[PMID]","hgnc":"11278","ensembl":"ENSG00000100596","omim":"605713","loci":["14q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"18348718[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-01","source":"25042817[PMID]_18348718[PMID]_20301564[PMID]","terms":[{"hpo":"HP:0002270","label":"Abnormality of the autonomic nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007078","label":"Decreased amplitude of sensory action potentials","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031060","label":"Impaired ability to dress oneself","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007550","label":"Hypohidrosis or 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(79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100287","label":"EMG: slow motor conduction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007002","label":"Motor axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002821","label":"Neuropathic arthropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002756","label":"Pathologic fracture","frequency":"Occasional (29-5%)","criteria":null}]}}