{"orpha":391397,"name":"Hereditary sensory and autonomic neuropathy type 7","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CIP with hyperhidrosis and gastrointestinal dysfunction","Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction","HSAN with hyperhidrosis and gastrointestinal dysfunction","HSAN7","Hereditary sensory and autonomic neuropathy type VII","Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction"],"definition":"A rare, genetic, periphery neuropathy characterized by a congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhea and/or constipation. Cognitive development is normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391397/","orphanet_url":"https://www.orpha.net/en/disease/detail/391397","names":{"fr":{"name":"Neuropathie héréditaire sensitive et autonomique type 7","synonyms":["Insensibilité congénitale à la douleur avec hyperhidrose et troubles gastro-intestinaux","NHSA avec hyperhidrose et troubles gastrointestinaux","NHSA7","Neuropathie héréditaire sensitive et autonomique avec hyperhidrose et troubles gastro-intestinaux","Neuropathie héréditaire sensitive et autonomique type VII"],"definition":"Neuropathie périphérique rare et génétique caractérisée par une insensibilité congénitale à la douleur, une hypotonie musculaire et des troubles gastro-intestinaux. Les patients présentent un retard d'acquisition des principales étapes du développement, des signes d'automutilation, des ulcères cutanés, une mauvaise cicatrisation, des fractures indolores, une hyperhidrose, un inconfort abdominal, des diarrhées et/ou une constipation. Le développement cognitif des patients est normal."},"de":{"name":"Neuropathie, autonome hereditäre sensorische, Typ 7","synonyms":["CIP mit Hyperhidrose und gastrointestinaler Dysfunktion","HSAN mit Hyperhidrose und gastrointestinaler Dysfunktion","HSAN7","Hereditäre sensorische und autonome Neuropathie mit Hyperhidrose und gastrointestinaler Dysfunktion","Kongenitale Schmerzunempfindlichkeit mit Hyperhidrose und gastrointestinaler Dysfunktion","Neuropathie, autonome hereditäre sensorische, Typ VII"]},"es":{"name":"Neuropatía sensitiva autonómica hereditaria tipo 7","synonyms":["CIP con hiperhidrosis y disfunción gastrointestinal","HSAN con hiperhidrosis y disfunción gastrointestinal","HSAN7","Insensibilidad congénita al dolor con hiperhidrosis y disfunción gastrointestinal","Neuropatía sensitiva autonómica hereditaria con hiperhidrosis y disfunción gastrointestinal","Neuropatía sensitiva autonómica hereditaria tipo VII"],"definition":"Es una neuropatía periférica, poco frecuente y genética, caracterizada por insensibilidad congénita al dolor, hipotonía muscular y trastornos gastrointestinales. Los pacientes presentan hitos del desarrollo motor tardíos, auto-mutilaciones, úlceras cutáneas, mala cicatrización de heridas, fracturas indoloras, hiperhidrosis, malestar abdominal, diarrea y/o estreñimiento. Su desarrollo cognitivo es normal."},"it":{"name":"Neuropatia sensoriale e autonomica ereditaria tipo 7","synonyms":["HSAN con iperidrosi e disfunzione gastrointestinale","HSAN7","Insensibilità congenita al dolore con iperidrosi e disfunzione gastrointestinale","Neuropatia autonomica e sensoriale ereditaria con iperidrosi e disfunzione gastrointestinale"],"definition":"È una neuropatia periferica rara di origine genetica, caratterizzata da insensibilità congenita al dolore, ipotonia muscolare e disturbi gastrointestinali. I pazienti presentano ritardo dello sviluppo motorio, automutilazione, ulcere cutanee, ridotta cicatrizzazione, fratture indolori, iperidrosi, sensazione di fastidio all'addome, diarrea e/o costipazione. Lo sviluppo cognitivo è normale."},"nl":{"name":"Erfelijke sensorische en autonome neuropathie type 7","synonyms":["CIP met hyperhidrose en gastro-intestinale disfunctie","Congenitale ongevoeligheid voor pijn met hyperhidrose en gastro-intestinale disfunctie","Erfelijke sensorische en autonome neuropathie met hyperhidrose en gastro-intestinale disfunctie","Erfelijke sensorische en autonome neuropathie type VII","HSAN met hyperhidrose en gastro-intestinale disfunctie","HSAN7"],"definition":"Een zeldzame, genetische, perifere neuropathie die gekarakteriseerd wordt door een congenitale ongevoeligheid voor pijn, musculaire hypotonie en gastro-intestinale stoornissen. Patiënten vertonen vertraging in het bereiken van motorische mijlpalen, zelfverminking, huidzweren, slechte wondheling, pijnloze fracturen, hyperhidrose, abdominaal ongemak, diarree en/of constipatie. Cognitieve ontwikkeling is normaal."},"pt":{"name":"Neuropatia sensitiva e autonómica hereditária tipo 7","synonyms":["CIP com hiperhidrose e disfunção gastrointestinal","HSAN com hiperhidrose e disfunção gastrointestinal","HSAN7","Insensibilidade à dor congénita com hiperhidrose e disfunção gastrointestinal","Neuropatia sensitiva e autonómica hereditária com hiperhidrose e disfunção gastrointestinal","Neuropatia sensitiva e autonómica hereditária tipo VII"]},"pl":{"name":"Dziedziczna neuropatia czuciowa i autonomiczna typu 7","synonyms":["HSAN7","Dziedziczna neuropatia czuciowa i autonomiczna typu VII","CIP z hiperhydrozą i dysfunkcją żołądkowo-jelitową","HSAN z hiperhydrozą i dysfunkcją żołądkowo-jelitową","Wrodzona niewrażliwość na ból z hiperhydrozą i dysfunkcją żołądkowo-jelitową","Dziedziczna neuropatia czuciowa i autonomiczna z hiperhydrozą i dysfunkcją żołądkowo-jelitową"]},"cs":{"name":"Hereditární senzorická a autonomní neuropatie, typ 7","synonyms":["Vrozená necitlivost na bolest s hyperhidrózou a gastrointestinální dysfunkcí","HSAN s hyperhidrózou a gastrointestinální dysfunkcí","HSAN7","Hereditární senzorická a autonomní neuropatie s hyperhidrózou a gastrointestinální dysfunkcí"]},"uk":{"name":"Спадкова сенсорна та автономна нейропатія, тип 7","synonyms":["CIP при гіпергідрозі та дисфункції шлунково-кишкового тракту","Вроджена нечутливість до болю при гіпергідрозі та дисфункції шлунково-кишкового тракту","Спадкова сенсорна та автономна нейропатія VII типу","Спадкова сенсорна та вегетативна нейропатія з гіпергідрозом та дисфункцією шлунково-кишкового тракту","HSAN при гіпергідрозі та дисфункції шлунково-кишкового тракту","HSAN7"],"definition":"A rare, genetic, periphery neuropathy characterized by a congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhea and/or constipation. Cognitive development is normal."},"zh":{"name":"遗传性感觉和自主神经病变7型","synonyms":["遗传性感觉和自主神经病伴多汗症和胃肠功能障碍"],"definition":"本病是一种罕见的遗传性外周神经病，其特征是先天对疼痛不敏感，肌张力减退和胃肠紊乱。患者表现为运动里程碑达成延迟、自残、皮肤溃疡、伤口愈合不良、无痛性骨折、多汗症、腹部不适、腹泻和/或便秘的患者。患者的认知发展是正常的。"},"tr":{"name":"Kalıtsal duyusal ve otonom nöropati tip 7","synonyms":["HSAN7","Kalıtsal duyusal ve otonom nöropati tip VII","Hiperhidroz ve gastrointestinal disfonksiyonu ile seyreden CIP","Hiperhidroz ve gastrointestinal disfonksiyonu ile sEyreden HSAN","Hiperhidroz ve gastrointestinal disfonksiyon ile seyreden ağrıya doğumsal duyarsızlık","Hiperhidroz ve gastrointestinal disfonksiyon ile seyreden kalıtsal duyusal ve otonomik nöropati"]}},"xrefs":[{"source":"OMIM","code":"615548","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014244","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3809882","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12732","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]}],"children":[],"genes":[{"symbol":"SCN11A","name":"sodium voltage-gated channel alpha subunit 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"24036948[PMID]","hgnc":"10583","ensembl":"ENSG00000168356","omim":"604385","loci":["3p22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"24036948[PMID]_24813307[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}