{"orpha":314381,"name":"Hereditary sensory and autonomic neuropathy type 6","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HSAN6","Hereditary sensory and autonomic neuropathy type VI","Familial dysautonomia with contractures"],"definition":"A rare hereditary sensory and autonomic neuropathy characterized by hypotonia in infancy, variable psychomotor retardation, markedly impaired pain sensitivity with poorly healing distal ulcerations and painless fractures leading to joint deformities and amputation of fingers and toes, altered deep tendon reflexes, and dysautonomic symptoms including hypohidrosis and heat intolerance, chronic diarrhea, pupillary abnormalities, or urinary incontinence. Sensorineural hearing loss has also been reported. The severity of the disease is highly variable, with severe cases being potentially lethal in infancy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314381/","orphanet_url":"https://www.orpha.net/en/disease/detail/314381","names":{"fr":{"name":"Neuropathie héréditaire sensitive et autonomique type 6","synonyms":["Dysautonomie familiale avec contractures","HSAN6","NHSA6","Neuropathie héréditaire sensitive et autonomique type VI"],"definition":"Neuropathie sensorielle et autonomique héréditaire rare caractérisée par une hypotonie survenant dans la petite enfance, un retard psychomoteur variable, une altération nette de la sensibilité à la douleur et des ulcérations du segment distal qui cicatrisent mal et des fractures indolores entraînant des déformations articulaires et l'amputation des doigts et des orteils, une altération des réflexes tendineux profonds et des symptômes dysautonomiques, notamment une hypohidrose et une intolérance à la chaleur, une diarrhée chronique, des anomalies pupillaires ou une incontinence urinaire. Une perte auditive neurosensorielle a également été décrite. La gravité de la maladie est très variable, les cas les plus graves pouvant être fatals dès l'enfance."},"de":{"name":"Neuropathie, autonome hereditäre sensorische, Typ 6","synonyms":["Dysautonomie, familiäre, mit Kontrakturen","HSAN6","Neuropathie, autonome hereditäre sensorische, Typ VI"],"definition":"Eine seltene hereditäre sensorische und autonome Neuropathie, die durch Hypotonie im Säuglingsalter, variable psychomotorische Retardierung, stark beeinträchtigte Schmerzempfindlichkeit mit schlecht heilenden distalen Ulzerationen und schmerzlosen Frakturen, die zu Fehlbildungen und Amputationen von Fingern und Zehen führen, veränderte tiefe Sehnenreflexe und dysautonomische Symptome wie Hypohidrose und Wärmeintoleranz, chronischer Durchfall, Pupillenanomalien oder Harninkontinenz gekennzeichnet ist. Auch ein sensorineuraler Hörverlust wurde berichtet. Der Schweregrad der Krankheit ist sehr unterschiedlich, wobei schwere Fälle bereits im Säuglingsalter tödlich verlaufen können."},"es":{"name":"Neuropatía sensitiva autonómica hereditaria tipo 6","synonyms":["Disautonomía familiar con contracturas","HSAN6","Neuropatía sensitiva autonómica hereditaria tipo VI"],"definition":"Es una neuropatía sensitiva y autonómica hereditaria poco frecuente caracterizada por hipotonía en el periodo de lactancia, retraso psicomotor variable, marcada alteración de la sensibilidad al dolor con ulceraciones distales que cicatrizan mal y fracturas indoloras que conducen a deformidades articulares y amputación de los dedos de las manos y los pies, alteración de los reflejos tendinosos profundos y síntomas disautonómicos, incluyendo hipohidrosis e intolerancia al calor, diarrea crónica, anomalías pupilares o incontinencia urinaria. También se ha descrito hipoacusia neurosensorial. La gravedad de la enfermedad es muy variable, siendo los casos más graves potencialmente letales en el lactante."},"it":{"name":"Neuropatia autonomica e sensoriale ereditaria, tipo 6","synonyms":["Disautonomia familiare con contratture","HSAN6"]},"nl":{"name":"Erfelijke sensorische en autonome neuropathie type 6","synonyms":["Erfelijke sensorische en autonome neuropathie type VI","Familiale dysautonomie met contracturen","HSAN6"],"definition":"Een zeldzame hereditaire sensorische en autonome neuropathie, gekenmerkt door hypotonie in de zuigelingentijd, variabele psychomotorische retardatie, aanzienlijk verstoorde gevoeligheid voor pijn met slecht helende distale ulceraties en pijnloze fracturen die leiden tot gewrichtsmisvormingen en amputatie van vingers en tenen, gewijzigde diepe peesreflexen, en dysautonome symptomen waaronder hypohidrose en intolerantie voor hitte, chronische diarree, afwijkingen van pupil, of urinaire incontinentie. Sensorineuraal gehoorverlies werd ook reeds gerapporteerd. De ernst van de ziekte is zeer variabel, en ernstige gevallen zijn mogelijk letaal in de zuigelingentijd."},"pt":{"name":"Neuropatia sensitiva e autonómica hereditária tipo 6","synonyms":["Disautonomia familiar com contraturas","HSAN6"],"definition":"Neuropatia hereditária sensitiva e autonómica rara, caracterizada por hipotonia na infância, atraso do desenvolvimento psicomotor variável, diminuição acentuada da sensibilidade à dor, com úlceras distais de difícil cicatrização e fraturas indolores, levando a deformidades articulares e amputação de dedos das mãos e dos pés, alteração dos reflexos tendinosos profundos e sintomas disautonómicos, incluindo hipoidrose e intolerância ao calor, diarreia crónica, anomalias pupilares ou incontinência urinária. Défice auditivo neurossensorial também tem sido reportado. A gravidade da doença é altamente variável, sendo os casos graves potencialmente letais na infância."},"pl":{"name":"Dziedziczna neuropatia zmysłowa i autonomiczna typu 6 6","synonyms":["HSAN6","Rodzinna dysautonomia z przykurczami","Dziedziczna neuropatia zmysłowa i autonomiczna typu 6 VI"]},"cs":{"name":"Hereditární senzorická a autonomní neuropatie, typ 6","synonyms":["Familiární dysautonomie s kontrakturami","HSAN6"]},"uk":{"name":"Спадкова сенсорна та автономна нейропатія, тип 6","synonyms":["Сімейна дисавтономія з контрактурами","Спадкова сенсорна та автономна нейропатія VI типу","HSAN6"],"definition":"A rare hereditary sensory and autonomic neuropathy characterized by hypotonia in infancy, variable psychomotor retardation, markedly impaired pain sensitivity with poorly healing distal ulcerations and painless fractures leading to joint deformities and amputation of fingers and toes, altered deep tendon reflexes, and dysautonomic symptoms including hypohidrosis and heat intolerance, chronic diarrhea, pupillary abnormalities, or urinary incontinence. Sensorineural hearing loss has also been reported. The severity of the disease is highly variable, with severe cases being potentially lethal in infancy."},"zh":{"name":"遗传性感觉自主神经病6型","synonyms":["遗传性感觉自主神经病VI型"]},"tr":{"name":"Kalıtsal duyusal ve otonomik nöropati tip 6","synonyms":["HSAN6","Kontraktürler ile seyreden ailesel disotonomi","Kalıtsal duyusal ve otonom nöropati tip VI"]}},"xrefs":[{"source":"OMIM","code":"614653","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013839","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3539003","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":"DST","name":"dystonin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22522446[PMID]","hgnc":"1090","ensembl":"ENSG00000151914","omim":"113810","loci":["6p12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"22522446[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}