{"orpha":64748,"name":"Dejerine-Sottas syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Charcot-Marie-Tooth disease type 3","HMSN 3","HMSN III","Hereditary motor and sensory neuropathy type 3","Hereditary motor and sensory neuropathy type III"],"definition":"A clinical entity that represents a severe phenotype of Charcot-Marie-Tooth disease characterized by onset occurring in infancy, severe motor weakness, delayed motor development, extremely slow nerve conduction (< 10-12 m/s), areflexia and foot deformity. Mutations in the genes <i>PMP22</i> (17p12), <i>MPZ</i> (1q22), <i>EGR2</i> (10q21.1) and <i>PRX</i> (19q13.2) have been implicated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-64748/","orphanet_url":"https://www.orpha.net/en/disease/detail/64748","names":{"fr":{"name":"Syndrome de Dejerine-Sottas","synonyms":["HMSN 3","HMSN III","Maladie de Charcot-Marie-Tooth type 3","Neuropathie sensitivo-motrice héréditaire type 3","Neuropathie sensitivo-motrice héréditaire type III"],"definition":"Entité clinique représentant un phénotype sévère de la maladie de Charcot-Marie-Tooth, caractérisée par une apparition infantile d'une faiblesse motrice sévère, d'un retard de développement moteur, d'une conduction nerveuse extrêmement lente (<&nbsp;10-12&nbsp;m/s), d'une aréflexie et d'une déformation des pieds. Le syndrome est associé à des mutations des gènes <i>PMP22</i> (17p12), <i>MPZ</i> (1q22), <i>EGR2</i> (10q21.1) et <i>PRX</i> (19q13.2)."},"de":{"name":"Dejerine-Sottas-Syndrom","synonyms":["Charcot-Marie-Tooth-Krankheit Typ 3","HMSN III","HMSN3","Neuropathie, hereditäre motorisch-sensorische, Typ 3"],"definition":"Das Dejerine-Sottas-Syndrom bezeichnet einen schweren Phänotyp der Charcot-Marie-Tooth Erkrankung (siehe dort) und ist durch Beginn im Kleinkindalter, schwere motorische Schwäche, verzögerte motorische Entwicklung, extrem langsame Nervenleitgeschwindigkeit (< 10-12 m/s), Areflexie und Fußdeformitäten charakterisiert. Mutationen in den Genen <i>PMP22</i> (17p12), <i>MPZ</i> (1q22), <i>EGR2</i> (10q21.1) und <i>PRX</i> (19q13.2) werden mit der Erkrankung in Verbindung gebracht."},"es":{"name":"Síndrome de Dejerine-Sottas","synonyms":["Enfermedad de Charcot-Marie-Tooth tipo 3","HMSN 3","HMSN III","Neuropatía hereditaria sensitivo-motora tipo 3","Neuropatía hereditaria sensitivo-motora tipo III"],"definition":"Es una entidad clínica que representa un fenotipo grave de la enfermedad de Charcot-Marie-Tooth caracterizada por el inicio en la lactancia de una grave debilidad motora, retraso del desarrollo motor, conducción nerviosa extremadamente lenta (< 10-12 m/s), arreflexia y malformación del pie. Se ha relacionado con mutaciones en los genes <i>PMP22</i> (17p12), <i>MPZ</i> (1q22), <i>EGR2</i> (10q21.1) y <i>PRX</i> (19q13.2)."},"it":{"name":"Sindrome di Dejerine-Sottas","synonyms":["HMSN 3","HMSN III","Malattia di Charcot-Marie-Tooth, tipo 3","Neuropatia sensitivo-motoria ereditaria, tipo 3","Neuropatia sensitivo-motoria ereditaria, tipo III"],"definition":"La sindrome di Dejerine-Sottas è la forma grave della malattia di Charcot-Marie-Tooth (si veda questo termine). E' caratterizzata da un esordio infantile, con grave debolezza motoria, ritardo dello sviluppo motorio, conduzione nervosa molto lenta (< 10-12 m/s), areflessia e deformità del piede. La sindrome si associa alle mutazioni nei geni <i>PMP22</i> (17p12), <i>MPZ</i> (1q22), <i>EGR2</i> (10q21.1) <i>PRX</i> (19q13.2)."},"nl":{"name":"Syndroom van Dejerine-Sottas","synonyms":["Erfelijke motorische en sensorische neuropathie type 3","Erfelijke motorische en sensorische neuropathie type III","HMSN 3","HMSN III","Ziekte van Charcot-Marie-Tooth type 3"],"definition":"Een klinische entiteit die een ernstig fenotype van ziekte van Charcot-Marie-Tooth vertegenwoordigt, en die gekarakteriseerd wordt door aanvang in de zuigelingentijd, ernstige motorische zwakte, motorische ontwikkelingsachterstand, extreem trage zenuwgeleiding (< 10-12 m/s), areflexie en voetmisvorming. Mutaties in de genen <i>PMP22</i> (17p12), <i>MPZ</i> (1q22), <i>EGR2</i> (10q21.1) en <i>PRX</i> (19q13.2) zijn betrokken."},"pt":{"name":"Síndrome de Dejerine-Sottas","synonyms":["Neuropatia hipertrófica da infância","Neuropatia motora e sensitiva hereditária tipo 3 (HMSN 3)"]},"pl":{"name":"Zespół Dejerine'a i Sottasa","synonyms":["Choroba Charcot, Marie i Tooth typu 3","Hereditary motor and sensory neuropathy type 3","HMSN 3","Hypertrophic neuropathy of infancy"],"definition":"Zespół Dejerine’a i Sottasa to jednostka kliniczna stanowiąca ciężki fenotyp choroby Charcota, Mariego i Tootha (sprawdź ten termin) o początku w wieku niemowlęcym charakteryzująca się znacznym osłabieniem ruchowym, opóźnieniem rozwoju ruchowego, bardzo spowolnionym przewodnictwem nerwowym (inf 10-12 m/s), brakiem odruchów oraz zniekształceniem stóp. Wykazano mutacje genów PMP22 (17p12), MPZ (1q22), EGR2 (10q21.1) i PRX (19q13.2)."},"cs":{"name":"Dejerine-Sottasův syndrom","synonyms":["Charcotova-Marieova-Toothova nemoc, typ 3","HMSN 3","HMSN III","Hereditární motorická a sensorická neuropatie, typ 3","Hereditární motorická a sensorická neuropatie, typ III","Charcot-Marie-Toothova nemoc, typ 3"]},"uk":{"name":"Синдром Дежеріна-Соттаса","synonyms":["Хвороба Шарко-Марі-Тута тип 3","Спадкова моторна та сенсорна нейропатія типу 3","Спадкова моторна та сенсорна нейропатія III типу","HMSN 3","HMSN III"],"definition":"A clinical entity that represents a severe phenotype of Charcot-Marie-Tooth disease characterized by onset occurring in infancy, severe motor weakness, delayed motor development, extremely slow nerve conduction (< 10-12 m/s), areflexia and foot deformity. Mutations in the genes <i>PMP22</i> (17p12), <i>MPZ</i> (1q22), <i>EGR2</i> (10q21.1) and <i>PRX</i> (19q13.2) have been implicated."},"zh":{"name":"Dejerine-Sottas综合征","synonyms":["遗传性运动感觉神经病III型"]},"tr":{"name":"Dejerine-Sottas sendromu","synonyms":["HMSN 3","HMSN III","Charcot-Marie-Tooth hastalığı tip 3","Kalıtsal motor ve duyusal nöropati tip 3","Kalıtsal motor ve duyusal nöropati tip III"]}},"xrefs":[{"source":"OMIM","code":"145900","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"618184","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"418660830"},{"source":"MONDO","code":"0007790","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0011195","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9204","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140453,"name":"Autosomal dominant hereditary demyelinating motor and sensory neuropathy","classifications":[156,181]},{"orpha":140459,"name":"Autosomal recessive hereditary demyelinating motor and sensory neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PRX","name":"periaxin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"11133365[PMID]","hgnc":"13797","ensembl":"ENSG00000105227","omim":"605725","loci":["19q13.2"]},{"symbol":"EGR2","name":"early growth response 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11523566[PMID]","hgnc":"3239","ensembl":"ENSG00000122877","omim":"129010","loci":["10q21.3"]},{"symbol":"MPZ","name":"myelin protein zero","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8816708[PMID]_12242557[PMID]","hgnc":"7225","ensembl":"ENSG00000158887","omim":"159440","loci":["1q23.3"]},{"symbol":"PMP22","name":"peripheral myelin protein 22","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18698610[PMID]_12090401[PMID]","hgnc":"9118","ensembl":"ENSG00000109099","omim":"601097","loci":["17p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12090401[PMID]"}],"phenotypes":null}