{"orpha":453510,"name":"Congenital insensitivity to pain with severe intellectual disability","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital absence of pain with severe intellectual disability","Congenital analgesia with severe intellectual disability","Congenital insensitivity to pain with preserved temperature sensation","Congenital insensitivity to pain with severe non-progressive cognitive delay"],"definition":"Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay, and normal motor movement/behavior and strength. Affected cases retained hot and cold perception.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-453510/","orphanet_url":"https://www.orpha.net/en/disease/detail/453510","names":{"fr":{"name":"Insensibilité congénitale à la douleur avec déficience intellectuelle sévère","synonyms":["Analgésie congénitale avec déficience intellectuelle sévère","Insensibilité congénitale à la douleur avec préservation de la sensibilité thermique"],"definition":"Neuropathie sensitive et autonomique héréditaire autosomique récessive rare caractérisée par l'absence totale de perception de la douleur dès la naissance, une absence de réponse au toucher, un retard cognitif non progressif sévère, et des mouvements/comportements moteurs normaux et une force normale. Les patients conservent la perception du chaud et du froid."},"de":{"name":"Kongenitale Schmerzunempfindlichkeit mit schwerer Intelligenzminderung","synonyms":["Kongenitale Analgesie mit schwerer Intelligenzminderung","Kongenitale Schmerzunempfindlichkeit mit erhaltener Temperaturempfindung","Kongenitale Schmerzunempfindlichkeit mit schwerer non-progressiver kognitiver Entwicklungsverzögerung"],"definition":"Eine seltene autosomal-rezessiv vererbte sensorische und autonome Neuropathie, die gekennzeichnet ist durch das völlige Fehlen der Schmerzwahrnehmung von Geburt an, eine Unempfindlichkeit gegenüber sanften Berührungen und eine schwere, nicht-progrediente kognitive Verzögerung. Motorische Bewegungen/Verhaltensweisen und Kraft sind normal und auch das Wärme- und Kälteempfinden bleibt erhalten."},"es":{"name":"Insensibilidad congénita al dolor con discapacidad intelectual grave","synonyms":["Analgesia congénita con discapacidad intelectual grave","Ausencia de dolor congénito con discapacidad intelectual grave","Insensibilidad congénita al dolor con preservación de la sensación térmica","Insensibilidad congénita al dolor con retraso cognitivo grave no progresivo"],"definition":"La insensibilidad congénita al dolor con discapacidad intelectual grave es una neuropatía sensitiva y autonómica hereditaria autosómica recesiva poco frecuente que se caracteriza por la ausencia total de percepción del dolor desde el nacimiento, falta de respuesta al tacto suave, profundo retraso cognitivo no progresivo y movimiento/comportamiento motor y fuerza normales. Los pacientes descritos mantienen la percepción de frío y calor."},"it":{"name":"Insensibilità congenita al dolore con disabilità intellettiva grave","synonyms":["Analgesia congenita con disabilità cognitiva grave","Assenza di dolore congenita con disabilità cognitiva grave","Insensibilità congenita al dolore con conservazione della sensibilità termica","Insensibilità congenita al dolore con ritardo cognitivo grave non progressivo"],"definition":"Si tratta di una neuropatia sensoriale ed autonoma ereditaria rara, a trasmissione autosomica recessiva, caratterizzata dalla completa assenza della percezione del dolore sin dalla nascita, dell'assenza di risposta al tocco delicato e da ritardo cognitivo grave non progressivo. Il movimento/comportamento motorio e la forza sono normali. Viene mantenuta la percezione del caldo e del freddo."},"nl":{"name":"Congenitale ongevoeligheid voor pijn met ernstige intellectuele achterstand","synonyms":["Conenitale analgesie met ernstige intellectuele achterstand","Congenitale afwezigheid van pijn met ernstige intellectuele achterstand","Congenitale insensitiviteit voor pijn met ernstige niet-progressieve cognitieve achterstand","Congenitale ongevoeligheid voor pijn met behouden temperatuursensatie"],"definition":"Een zeldzame autosomaal recessieve hereditaire sensorische en autonome neuropathie, gekarakteriseerd door volledige afwezigheid van pijnzin vanaf de geboorte, ongevoeligheid voor lichte aanraking, ernstige niet-progressieve cognitieve achteruitgang, en normale motorische beweging/gedrag en kracht. Getroffen gevallen behouden warmte- en koudezin."},"pt":{"name":"Insensibilidade congénita à dor com perturbação do desenvolvimento intelectual grave"},"pl":{"name":"Wrodzona niewrażliwość na ból z głęboką niepełnosprawnością intelektualną","synonyms":["Wrodzona analgezja z głęboką niepełnosprawnością intelektualną","Wrodzona niewrażliwość na ból z ciężkimi niepostępującymi zaburzeniami poznawczymi","Wrodzona niewrażliwość na ból z zachowanym czuciem temperatury","Wrodzony brak czucia bólu z głęboką niepełnosprawnością intelektualną"]},"cs":{"name":"Vrozená necitlivost pro bolest s těžkou mentální retardací","synonyms":["Vrozená necitlivost pro bolest se zachovanou citlivostí pro teplo","Vrozená absence bolesti s těžkou mentální retardací","Vrozená analgezie s těžkou mentální retardací","Vrozená necitlivost pro bolest s těžkým neprogresivním kognitivním opožděním"]},"uk":{"name":"Вроджена нечутливість до болю з тяжкими порушеннями інтелекту","synonyms":["Вроджена відсутність болю при тяжких інтелектуальних порушеннях","Вроджена аналгезія з тяжкою інтелектуальною недостатністю","Вроджена нечутливість до болю зі збереженим температурним відчуттям","Вроджена нечутливість до болю з тяжкою непрогресуючою когнітивною затримкою"],"definition":"Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay, and normal motor movement/behavior and strength. Affected cases retained hot and cold perception."},"zh":{"name":"先天性痛觉不敏感合并严重智力障碍","synonyms":["先天性痛觉不敏感合并严重非进展性智力障碍"],"definition":"先天性重度智力障碍者及对疼痛不敏感症是一种罕见的常染色体隐性遗传性感觉和自主神经病，其特征是出生时完全没有疼痛感，对软触感无反应，严重的非进行性认知迟缓以及正常的运动/行为和体力。患者保留了冷热感知。"},"tr":{"name":"Ağır zihinsel yetersizlik ile seyreden doğumsal ağrı duyarsızlığı","synonyms":["Ağır zihinsel yetersizlik ile seyreden doğumsal analjezi","Ağır zihinsel yetersizlik ile seyreden doğumsal ağrı yokluğu","Korunmuş sıcaklık hissi ile seyreden ağrıya doğumsal duyarsızlık","Ağır ilerleyici olmayan bilişsel gecikme ile seyretmeyen ağrıya doğumsal duyarsızlık"]}},"xrefs":[{"source":"ICD-10","code":"G60.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"0018682","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679994","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]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CLTCL1","name":"clathrin heavy chain like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26068709[PMID]","hgnc":"2093","ensembl":"ENSG00000070371","omim":"601273","loci":["22q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"26068709[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26068709[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-10","source":"29419974[PMID]_26068709[PMID]","terms":[{"hpo":"HP:0008000","label":"Decreased corneal reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002188","label":"Delayed CNS myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010830","label":"Impaired tactile sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007021","label":"Pain insensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000742","label":"Self-mutilation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008780","label":"Congenital bilateral hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200020","label":"Corneal erosion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010841","label":"Multifocal epileptiform discharges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011470","label":"Nasogastric tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012044","label":"Seesaw nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001772","label":"Talipes equinovalgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002982","label":"Tibial bowing","frequency":"Occasional (29-5%)","criteria":null}]}}