{"orpha":64752,"name":"Hereditary sensory and autonomic neuropathy type 5","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CIP","Congenital insensitivity to pain and thermal analgesia","HSAN5","Hereditary sensory and autonomic neuropathy type V"],"definition":"A rare congenital sensory neuropathy characterized by selective or generalized loss of pain perception and impaired temperature sensitivity, in the absence of other abnormal neurological function. Patients present with variable severity of insensibility to pain and temperature. Self-mutilation of the lips, tongue, and fingers, painless injuries resulting in cuts, bruises, fractures, destroyed joints (Charcot joints) mostly in the knees and and feet are frequentyly observed. Patients have normal motor and sensory nerve conduction. Nerve biopsy typically manifest with reduced/absent small myelinated fibers whereas unmyelinated fibers are usually not affected. Episodic increase in body temperature, skin blotching, decreased sweating, poor wound healing, infections in teeth, joints and bone, neurotrophic keratitis, prematurely aged appearance, with malar hypoplasia, sunken eyes are reported in few patients. Mild intellectual disability may also be present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-64752/","orphanet_url":"https://www.orpha.net/en/disease/detail/64752","names":{"fr":{"name":"Neuropathie héréditaire sensitive et autonomique type 5","synonyms":["HSAN5","ICD","Insensibilité congénitale à la douleur et analgésie thermique","NHSA5","Neuropathie héréditaire sensitive et autonomique type V"],"definition":"Neuropathie sensitive congénitale rare caractérisée par une perte sélective ou généralisée de la sensibilité à la douleur et une altération de la sensibilité à la température, en l'absence d'autres anomalies neurologiques. Les patients présentent une insensibilité plus ou moins grave à la douleur et à la température. On observe fréquemment des automutilations des lèvres, de la langue et des doigts, des blessures indolores entraînant des coupures, des contusions, des fractures, une destruction d'articulations (articulations de Charcot), principalement au niveau des genoux et des pieds. Le conduction nerveuse motrice et sensorielle est normale chez ces patients. La biopsie nerveuse met généralement en évidence une réduction/absence de petites fibres myélinisées, tandis que les fibres non myélinisées ne sont généralement pas affectées. Une augmentation épisodique de la température corporelle, des taches cutanées, une diminution de la transpiration, une mauvaise cicatrisation des plaies, des infections dentaires et ostéo-articulaires, une kératite neurotrophique, un vieillissement prématuré, avec hypoplasie malaire et yeux enfoncés, sont rapportés chez quelques patients. Une déficience intellectuelle légère peut également être présente."},"de":{"name":"Neuropathie, autonome hereditäre sensorische, Typ 5","synonyms":["HSAN5","Kongenitale Analgesie mit Thermanästhesie","Neuropathie, autonome hereditäre sensorische, Typ V"],"definition":"Eine seltene kongenitale sensorische Neuropathie, die durch einen selektiven oder generalisierten Verlust der Schmerzwahrnehmung und eine Beeinträchtigung der Temperaturempfindlichkeit gekennzeichnet ist, ohne dass eine andere abnorme neurologische Funktion vorliegt. Die Patienten weisen eine unterschiedlich ausgeprägte Unempfindlichkeit gegenüber Schmerzen und Temperatur auf. Selbstverstümmelung von Lippen, Zunge und Fingern, schmerzlose Verletzungen in Form von Schnittwunden, Prellungen, Brüchen und zerstörten Gelenken (Charcot-Gelenke), vor allem in den Knien und Füßen, werden häufig beobachtet. Die Patienten haben eine normale motorische und sensorische Nervenleitfähigkeit. Die Nervenbiopsie zeigt typischerweise reduzierte/abwesende kleine myelinisierte Fasern, während nicht myelinisierte Fasern in der Regel nicht betroffen sind. Episodische Erhöhungen der Körpertemperatur, Hautflecken, vermindertes Schwitzen, schlechte Wundheilung, Infektionen an Zähnen, Gelenken und Knochen, neurotrophe Keratitis, vorzeitig gealtertes Aussehen mit Malarhypoplasie und eingesunkenen Augen werden bei wenigen Patienten berichtet. Es kann auch eine leichte Intelligenzminderung vorliegen."},"es":{"name":"Neuropatía sensitiva autonómica hereditaria tipo 5","synonyms":["CIP","HSAN5","Insensibilidad congénita al dolor y analgesia térmica","Neuropatía sensitiva autonómica hereditaria tipo V"],"definition":"Es una neuropatía sensitiva congénita poco frecuente caracterizada por una pérdida selectiva o generalizada de la sensibilidad termoalgésica de gravedad variable en ausencia de otras anomalías de la función neurológica. Son frecuentes la automutilación de labios, lengua y dedos, y las lesiones indoloras que resultan en cortes, hematomas, fracturas y destrucción de las articulaciones (artropatía de Charcot), principalmente de las rodillas y de los pies. Los pacientes presentan una velocidad normal de conducción nerviosa motora y sensitiva. La biopsia nerviosa generalmente evidencia fibras mielinizadas pequeñas reducidas o ausentes, mientras que las fibras amielínicas no suelen estar afectadas. En algunos pacientes se ha descrito un aumento episódico de la temperatura corporal, ronchas en la piel, disminución de la sudoración, mala cicatrización de heridas, infecciones dentales, articulares y óseas, queratitis neurotrófica, envejecimiento prematuro, con hipoplasia malar y ojos hundidos. También puede asociar discapacidad intelectual leve."},"it":{"name":"Neuropatia autonomica e sensoriale ereditaria tipo 5","synonyms":["CIP","HSAN 5","Insensibilità congenita al dolore e analgesia termica","Neuropatia autonomica e sensoriale ereditaria tipo V"]},"nl":{"name":"Erfelijke sensorische en autonome neuropathie type 5","synonyms":["CIP","Congenitale pijnongevoeligheid en thermische analgesie","Erfelijke sensorische en autonome neuropathie type V","HSAN 5"],"definition":"Een zeldzame congenitale sensorische neuropathie, gekenmerkt door selectief of gegeneraliseerd verlies van pijnperceptie en verstoorde gevoeligheid voor temperatuur, in afwezigheid van andere abnormale neurologische functie. Patiënten vertonen variabele ernst van ongevoeligheid voor pijn en temperatuur. Zelfverminking van lippen, tong en vingers, en pijnloze letsels die resulteren in snijwonden, kneuzingen, fracturen, kapotte gewrichten (Charcot-gewrichten) meestal van knie en voet worden vaak waargenomen. Patiënten hebben normale motorische en sensorische zenuwgeleiding. Zenuwbiopsie toont doorgaans verminderde/afwezige kleine gemyeliniseerde vezels, terwijl niet-gemyeliniseerde vezels meestal niet aangetast zijn. Episodische toename van lichaamstemperatuur, huidvlekken, minder zweten, slechte wondgenezing, infecties van tanden, gewrichten en botten, neurotrofe keratitis, en prematuur verouderd uiterlijk met hypoplasie van jukbeenderen en diepliggende ogen, worden bij enkele patiënten gerapporteerd. Milde intellectuele achterstand kan ook aanwezig zijn."},"pt":{"name":"Neuropatia autonómica e sensorial hereditária tipo 5","synonyms":["CIP","HSAN 5","Insensibilidade congénita à dor e analgesia térmica","Neuropatia autonómica e sensorial hereditária tipo V"],"definition":"A neuropatia sensitiva e autonómica, hereditária, tipo 5 (HSAN5) é caracterizada pela perda da percepção da dor e diminuição da sensibilidade à temperatura, na ausência de qualquer outra anomalia neurológica importante."},"pl":{"name":"Dziedziczna neuropatia czuciowa i autonomiczna typu 5","synonyms":["HSAN5","Dziedziczna neuropatia czuciowa i autonomiczna typu V","Wrodzona niewrażliwość na ból i temperaturę","Dziedziczna neuropatia czuciowa i autonomiczna typu 5"]},"cs":{"name":"Hereditární senzorická a autonomní neuropatie, typ 5","synonyms":["Vrozená necitlivost na bolest a termální analgézie","HSAN5"]},"uk":{"name":"Спадкова сенсорна та автономна нейропатія, тип 5","synonyms":["CIP","Вроджена нечутливість до болю та теплової аналгезії","Спадкова сенсорна та автономна нейропатія типу V","HSAN5"],"definition":"A disorder that is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies."},"zh":{"name":"遗传性感觉和自主神经病5型","synonyms":["先天性痛觉温度觉不敏感"]},"tr":{"name":"Kalıtsal duyusal ve otonom nöropati tip 5","synonyms":["HSAN5","Kalıtsal duyusal ve otonom nöropati tip V","Ağrı ve termal analjeziye doğumsal duyarsızlık"]}},"xrefs":[{"source":"OMIM","code":"608654","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C21.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1411011731"},{"source":"MONDO","code":"0012092","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0020075","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12328","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":"NTRK1","name":"neurotrophic receptor tyrosine kinase 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"11310631[PMID]","hgnc":"8031","ensembl":"ENSG00000198400","omim":"191315","loci":["1q23.1"]},{"symbol":"NGF","name":"nerve growth factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14976160[PMID]","hgnc":"7808","ensembl":"ENSG00000134259","omim":"162030","loci":["1p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.035,"area":"Japan","status":"Not yet validated","source":"23495212[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-07-12","source":"20978020[PMID]_14976160[PMID]","terms":[{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000168","label":"Abnormality of the gingiva","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000970","label":"Anhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007249","label":"Decreased number of small peripheral myelinated nerve fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010829","label":"Impaired temperature sensition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007021","label":"Pain insensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002661","label":"Painless fractures due to injury","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001058","label":"Poor wound healing","frequency":"Frequent (79-30%)","criteria":null}]}}