{"orpha":478664,"name":"Hereditary sensory and autonomic neuropathy type 8","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HSAN8","Hereditary sensory and autonomic neuropathy type VIII"],"definition":"A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing, and recurrent skin infections. Large-fiber sensory modalities such as light touch, vibration, and proprioception are normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-478664/","orphanet_url":"https://www.orpha.net/en/disease/detail/478664","names":{"fr":{"name":"Neuropathie héréditaire sensitive et autonomique type 8","synonyms":["HSAN8","NHSA8","Neuropathie héréditaire sensitive et autonomique type VIII"],"definition":"Neuropathie sensitive et autonomique héréditaire autosomique récessive caractérisée par une insensibilité congénitale à la douleur aiguë ou inflammatoire, associée à une incapacité à identifier la sensation de chaleur ou de froid intense, entraînant de nombreuses lésions et blessures indolores causées par la mutilation. Les signes cliniques sont l'absence de réflexes cornéens entraînant une cicatrice cornéenne, une diminution de la transpiration et du larmoiement, et des infections cutanées récurrentes. Les modalités sensorielles telles que le toucher, la vibration et la proprioception propagés via les grosses fibres nerveuses sont normales."},"de":{"name":"Kongenitale Schmerzunempfindlichkeit-Hypohidrose-Syndrom","synonyms":["CIP-Hypohidrose-Syndrom","HSAN Typ VIII","HSAN8","Neuropathie, autonome hereditäre sensorische, Typ 8"],"definition":"Eine seltene autosomal-rezessiv vererbte sensorische und autonome Neuropathie, die durch eine angeborene Beeinträchtigung der Empfindung von akutem oder entzündlichem Schmerz in Kombination mit der Unfähigkeit, schädliche Hitze oder Kälte zu erkennen, gekennzeichnet ist und zu zahlreichen schmerzlosen verstümmelnden Läsionen und Verletzungen führt. Weitere Manifestationen sind das Fehlen von Hornhautreflexen, was zu Hornhautvernarbungen, vermindertem Schwitzen und Tränenfluss sowie wiederkehrenden Hautinfektionen führt. Die großfaserigen sensorischen Modalitäten wie leichte Berührung, Vibration und Propriozeption sind normal."},"es":{"name":"Neuropatía sensitiva autonómica hereditaria tipo 8","synonyms":["HSAN8","Neuropatía sensitiva autonómica hereditaria tipo VIII","Síndrome de CIP-hipohidrosis","Síndrome de insensibilidad congénita al dolor-hipohidrosis"],"definition":"Es una neuropatía autonómica y sensitiva hereditaria autosómica recesiva poco frecuente caracterizada por una alteración congénita de la sensación de dolor agudo o inflamatorio en combinación con una incapacidad para identificar el calor o el frío nocivos, lo que da lugar a numerosos daños y lesiones mutilantes indoloras. Otras manifestaciones son la ausencia del reflejo corneal que resulta en cicatrices corneales, reducción de la sudoración y lagrimeo e infecciones cutáneas recurrentes. Las modalidades sensitivas de fibras grandes como el tacto ligero, la vibración y la propiocepción son normales."},"it":{"name":"Neuropatia sensoriale e autonoma ereditaria tipo 8","definition":"Si tratta di una neuropatia sensoriale ed autonoma ereditaria rara, a trasmissione autosomica recessiva, caratterizzata dalla compromissione congenita della sensibilità al dolore acuto o infiammatorio, associata all'incapacità di riconoscere il calore o il freddo eccessivi, con conseguenti ferite multiple e lesioni mutilanti non dolorose. Altri segni clinici sono l'assenza dei riflessi corneali, con la conseguente formazione di cicatrici corneali, la riduzione della sudorazione e della lacrimazione, e le infezioni cutanee ricorrenti. Le funzioni sensoriali delle grandi fibre nervose, come il tatto, la vibrazione e la propriocezione, sono normali."},"nl":{"name":"Erfelijke sensorische en autonome neuropathie type 8","synonyms":["HSAN8","Erfelijke sensorische en autonome neuropathie type VIII"],"definition":"Een zeldzame autosomaal recessieve hereditaire sensorische en autonome neuropathie, gekarakteriseerd door congenitaal verstoorde sensatie van acute of inflammatoire pijn in combinatie met een onvermogen om schadelijke hitte of koude te identificeren, wat leidt tot talrijke pijnloze mutilerende laesies en letsels. Overige manifestaties zijn afwezigheid van cornealreflex resulterend in corneale littekenvorming, verminderd zweten en tranen, en recidiverende huidinfectie. Sensorische modaliteiten via grote zenuwvezels, zoals lichte aanraking, vibratie en proprioceptie, zijn normaal."},"pt":{"name":"Neuropatia sensitiva e autonómica hereditária tipo 8","synonyms":["Síndrome de insensibilidade à dor-hipohidrose congénita"]},"pl":{"name":"Zespół wrodzonej niewrażliwości na ból i hipohydrozy","synonyms":["Dziedziczna neuropatia czuciowa i autonomiczna typu VIII","Dziedziczna neuropatia czuciowa i autonomiczna typu 8","HSAN8","Zespół CIP i hipohydrozy"]},"cs":{"name":"Hereditání senzorická a autonomní neuropatie, typ 8","synonyms":["HSAN8","Hereditary sensory and autonomic neuropathy type VIII","Dědičná senzorická a autonomní neuropatie typu VIII"]},"uk":{"name":"Спадкова сенсорна та автономна нейропатія, тип 8","synonyms":["Спадкова сенсорна та автономна нейропатія VIII типу","HSAN8"],"definition":"A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing, and recurrent skin infections. Large-fiber sensory modalities such as light touch, vibration, and proprioception are normal."},"zh":{"name":"遗传性感觉和自主神经病8型","synonyms":["Hereditary sensory and autonomic neuropathy type VIII"],"definition":"一种罕见的常染色体隐性遗传性感觉和自主神经病，其特点是先天性急性或炎症性疼痛感觉障碍，同时不能识别有害的热或冷，导致许多无痛性致残病灶及损伤。进一步的表现是角膜反射缺失，导致角膜瘢痕、出汗和撕裂减少、皮肤反复感染。大纤维感觉方式如轻触、振动和本体感觉等均正常。"},"tr":{"name":"Kalıtsal duyusal ve otonom nöropati tip 8","synonyms":["HSAN8","Kalıtsal duyusal ve otonom nöropati tip VIII"]}},"xrefs":[{"source":"OMIM","code":"616488","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014662","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14662","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225308","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":"PRDM12","name":"PR/SET domain 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26005867[PMID]_26975306[PMID]_28050684[PMID]","hgnc":"13997","ensembl":"ENSG00000130711","omim":"616458","loci":["9q34.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"26005867[PMID]_26975306[PMID]_28050684[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26005867[PMID]_26975306[PMID]_28050684[PMID]"}],"phenotypes":null}