{"orpha":217399,"name":"Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital absence of pain with hyperhidrosis","Congenital analgesia with hyperhidrosis","Congenital indifference to pain with hyperhidrosis","Congenital insensitivity to pain with hyperhidrosis"],"definition":"A rare hereditary sensory and autonomic neuropathy characterized by congenital insensitivity to pain, general hypesthesia, diminished temperature sensitivity, and hyperhidrosis. Motor function is preserved. Skin biopsy reveals lack of cutaneous innervation except for sensory and autonomic innervation of blood vessels and sweat glands.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217399/","orphanet_url":"https://www.orpha.net/en/disease/detail/217399","names":{"fr":{"name":"Insensibilité congénitale à la douleur-hyperhidrose-absence d'innervation sensorielle cutanée","synonyms":["Analgésie congénitale avec hyperhidrose","Indifférence congénitale à la douleur avec hyperhidrose","Insensibilité congénitale à la douleur avec hyperhidrose"],"definition":"Neuropathie héréditaire sensitive et autonomique rare, caractérisée par une insensibilité congénitale à la douleur, une hypoesthésie générale, une diminution de la sensibilité à la température et une hyperhidrose. La fonction motrice est préservée. La biopsie de la peau révèle l'absence d'innervation cutanée, à l'exception de l'innervation sensorielle et autonomique des vaisseaux sanguins et des glandes sudoripares."},"de":{"name":"Kongenitale Schmerzunempfindlichkeit mit Hyperhidrose und Verlust der kutanen sensorischen Innervation","synonyms":["Kongenitale Analgesie mit Hyperhidrose","Kongenitale Schmerzunempfindlichkeit mit Hyperhidrose"],"definition":"Eine seltene hereditäre sensorische und autonome Neuropathie, die durch angeborene Unempfindlichkeit gegenüber Schmerzen, allgemeine Hypästhesie, verminderte Temperaturempfindlichkeit und Hyperhidrose gekennzeichnet ist. Die motorische Funktion ist erhalten. Die Hautbiopsie zeigt das Fehlen der kutanen Innervation mit Ausnahme der sensorischen und autonomen Innervation der Blutgefäße und Schweißdrüsen."},"es":{"name":"Insensibilidad congénita al dolor-hiperhidrosis-ausencia de inervación sensitiva cutánea","synonyms":["Analgesia congénita con hiperhidrosis","Ausencia congénita de dolor con hiperhidrosis","Indiferencia congénita al dolor con hiperhidrosis","Insensibilidad congénita al dolor con hiperhidrosis"],"definition":"Es una neuropatía sensitiva y autonómica hereditaria poco frecuente caracterizada por insensibilidad congénita al dolor, hipoestesia general, disminución de la sensibilidad a la temperatura e hiperhidrosis. La función motora está preservada. La biopsia de piel revela la ausencia de inervación cutánea excepto por la inervación sensitiva y autonómica de los vasos sanguíneos y de las glándulas sudoríparas."},"it":{"name":"Insensibilità congenita al dolore-iperidrosi-assenza di innervazione sensoriale della cute","synonyms":["Analgesia congenita con iperidrosi","Assenza congenita di dolore con iperidrosi","Indifferenza congenita al dolore con iperidrosi","Insensibilità congenita al dolore con iperidrosi"]},"nl":{"name":"Congenitale ongevoeligheid voor pijn - hyperhidrose - afwezigheid van sensorische innervatie van huid","synonyms":["Congenitale afwezigheid van pijn met hyperhidrose","Congenitale analgesie met hyperhidrose","Congenitale insensitiviteit voor pijn met hyperhidrose","Congenitale ongevoeligheid voor pijn met hyperhidrose"],"definition":"Een zeldzame erfelijke sensorische en autonome neuropathie, gekenmerkt door congenitale ongevoeligheid voor pijn, algemene hypesthesie (verminderde gevoeligheid), verminderde temperatuurgevoeligheid, en hyperhidrose. De motorische functie blijft behouden. Biopsie van huid toont gebrek aan innervatie van huid, met uitzondering van sensorische en autonome innervatie van bloedvaten en zweetklieren."},"pt":{"name":"Insensibilidade congénita à dor-hiperhidrose-ausência de enervação cutânea sensorial","synonyms":["Analgesia congénita com hiperhidrose","Ausência de dor congénita com hiperhidrose","Indiferença à dor congénita com hiperhidrose","Insensibilidade à dor congénita com hiperhidrose"],"definition":"Neuropatia hereditária sensorial e autonómica rara caracterizada por insensibilidade congénita à dor, hipostesia geral, sensibilidade diminuída à temperatura e hiper-hidrose. A função motora é preservada. A biópsia de pele revela falta de inervação cutânea, exceto pela inervação sensorial e autonómica de vasos sanguíneos e glândulas sudoríparas."},"pl":{"name":"Wrodzona niewrażliwość na ból z hiperhydrozą","synonyms":["Wrodzona analgezja z hiperhydrozą","Wrodzona obojętność na ból z hiperhydrozą","Wrodzony brak bólu z hiperhydrozą","Wrodzona niewrażliwość na ból-nadmierne pocenie-brak włókien nerwowych C","Wrodzony zespół niewrażliwość na ból, nadmiernej potliwości oraz braku unerwienia czuciowego skóry"]},"cs":{"name":"Vrozená insenzitivita k bolesti s hyperhidrózou a absencí kožní senzorické inervace","synonyms":["Vrozená absence bolesti s hyperhidrózou","Vrozená analgesie s hyperhidrózou","Vrozená netečnost k bolesti s hyperhidrózou"]},"uk":{"name":"Вроджена нечутливість до болю - гіпергідроз - відсутність шкірної сенсорної іннервації","synonyms":["Вроджена відсутність болю при гіпергідрозі","Вроджена аналгезія при гіпергідрозі","Вроджена байдужість до болю при гіпергідрозі","Вроджена нечутливість до болю при гіпергідрозі"],"definition":"A rare hereditary sensory and autonomic neuropathy characterized by congenital insensitivity to pain, general hypesthesia, diminished temperature sensitivity, and hyperhidrosis. Motor function is preserved. Skin biopsy reveals lack of cutaneous innervation except for sensory and autonomic innervation of blood vessels and sweat glands."},"zh":{"name":"先天性痛觉不敏感伴多汗症","synonyms":["先天性痛觉不敏感伴多汗症"]},"tr":{"name":"Hiperhidroz ile seyreden ağrıya doğumsal duyarsızlık","synonyms":["Hiperhidrozlu doğumsal analjezi","Hiperhidroz ile seyreden doğumsal ağrı yokluğu","Hiperhidroz ile seyreden ağrıya doğumsal duyarsızlık"]}},"xrefs":[{"source":"ICD-10","code":"G60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016319","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679817","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140471,"name":"Hereditary sensory and autonomic neuropathy","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"19836135[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19836135[PMID]"}],"phenotypes":null}