{"orpha":445062,"name":"Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome","Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome"],"definition":"A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-445062/","orphanet_url":"https://www.orpha.net/en/disease/detail/445062","names":{"fr":{"name":"Syndrome de diabète sucré juvénile-neurodégénérescence centrale et périphérique","synonyms":["Syndrome d'ataxie cérébelleuse et périphérique combinée-surdité-diabète sucré"],"definition":"Maladie génétique rare caractérisée par un diabète sucré insulinodépendant d'apparition juvénile associé à des anomalies du système nerveux central et périphérique, avec un début variable entre l'enfance et l'adolescence. Les signes cliniques neurologiques comprennent une ataxie cérébelleuse associée à une ataxie de la voie afférente, une perte auditive neurosensorielle, des signes d'atteinte du système pyramidal et une neuropathie périphérique sensorimotrice démyélinisante. Une hypothyroïdie a été rapportée chez certains patients. L'IRM peut révéler une atrophie cérébrale généralisée."},"de":{"name":"Juveniler Diabetes mellitus-zentrale und periphere Neurodegeneration-Syndrom","synonyms":["Kombinierte zerebelläre und periphere Ataxie-Hörverlust-Diabetes mellitus-Syndrom"],"definition":"Eine seltene genetische Störung, die durch einen insulinabhängigen Diabetes mellitus im Jugendalter gekennzeichnet ist, der mit Anomalien des zentralen und peripheren Nervensystems einhergeht und variabel zwischen dem Säuglings- und dem Jugendalter auftritt. Zu den neurologischen Manifestationen gehören kombinierte zerebelläre und afferente Ataxie, sensorineurale Schwerhörigkeit, Anzeichen von Pyramidenbahnen und demyelinisierende sensorimotorische periphere Neuropathie. Bei einigen Patienten wurde eine Hypothyreose festgestellt. Die Bildgebung des Gehirns kann eine generalisierte zerebrale Atrophie zeigen."},"es":{"name":"Síndrome de diabetes mellitus de inicio juvenil-neurodegeneración central y periférica","synonyms":["Síndrome de ataxia cerebelosa y periférica combinada-hipoacusia-diabetes mellitus","Síndrome de ataxia cerebelosa y periférica combinada-sordera-diabetes mellitus"],"definition":"Es una enfermedad genética poco frecuente caracterizada por diabetes mellitus insulinodependiente de inicio juvenil asociada a anomalías del sistema nervioso central y periférico con un inicio variable entre la lactancia y la adolescencia. Las manifestaciones neurológicas incluyen ataxia cerebelosa y aferente combinada, hipoacusia neurosensorial, signos piramidales y neuropatía periférica sensitivo-motora desmielinizante. Se ha descrito hipotiroidismo en algunos pacientes. Las imágenes cerebrales pueden mostrar atrofia cerebral generalizada."},"it":{"name":"Sindrome diabete mellito ad esordio giovanile-neurodegenerazione centrale e periferica","synonyms":["Sindrome atassia cerebellare e periferica combinata-sordità-diabete mellito"],"definition":"Si tratta di una malattia genetica rara, caratterizzata da diabete mellito insulino-dipendente ad esordio giovanile, associato ad anomalie del sistema nervoso centrale e periferico che esordiscono tra la prima infanzia e l'adolescenza. I sintomi neurologici comprendono l'atassia cerebellare ed afferente, la sordità neurosensoriale, i sintomi piramidali e la neuropatia sensitivo-motoria periferica demielinizzante. Alcuni pazienti presentano ipotiroidismo. Le neuroimmagini mostrano atrofia cerebrale generalizzata."},"nl":{"name":"Diabetes mellitus - gehoorverlies - centrale en perifere neurodegeneratie-syndroom met juveniele aanvang","synonyms":["Gecombineerde cerebellaire en perifere ataxie - gehoorverlies - diabetes mellitus-syndroom"],"definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door juveniel aanvangende insulineafhankelijke diabetes mellitus, geassocieerd met afwijkingen van centraal en perifeer zenuwstelsel met variabele aanvang tussen zuigelingentijd en adolescentie. Neurologische manifestaties zijn onder meer gecombineerde cerebellaire en afferente ataxie, sensorineuraal gehoorverlies, piramidebaanverschijnselen, en demyeliniserende sensorimotorische perifere neuropathie. Bij sommige patiënten werd hypothyreoïdie gerapporteerd. Beeldvorming van hersenen toont mogelijk gegeneraliseerde cerebrale atrofie."},"pt":{"name":"Síndrome de diabetes mellitus de início juvenil-neurodegenerescência central e periférica"},"pl":{"name":"Zespół cukrzycy o początku w wieku młodzieńczym z ośrodkową i obwodową neurodegeneracją","synonyms":["Zespół złożonej ataksji móżdżkowej i obwodowej, utraty słuchu i cukrzycy"]},"cs":{"name":"Syndrom zahrnující juvenilní diabetes mellitus a centrální a periferní neurodegeneraci","synonyms":["Syndrom zahrnující kombinovanou mozečkovou a periferní ataxii, ztrátu sluchu a diabetes mellitus"]},"uk":{"name":"Синдром ювенільного цукрового діабету-центральної та периферичної нейродегенерації","synonyms":["Поєднання мозочкової та периферичної атаксії-глухоти-цукрового діабету","Поєднання мозочкової та периферичної атаксії-втрати слуху-цукрового діабету"],"definition":"A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy."},"zh":{"name":"青少年型糖尿病合并中枢和外周神经系统退行性变","synonyms":["小脑和周围性联合共济失调-耳聋-糖尿病综合征"],"definition":"一种罕见的遗传性疾病，其特征是少年期胰岛素依赖型糖尿病与中枢神经系统和外周神经系统异常有关，在婴儿和青春期之间发病。神经系统表现包括合并小脑和传入性共济失调，感觉神经性听力减退，锥体束征和脱髓鞘性感觉运动性周围神经病。也有甲状腺功能减退症的报道。脑部影像学检查可能显示全身性脑萎缩。"},"tr":{"name":"Jüvenil başlangıçlı diabetes mellitus-merkezi ve periferik nörodejenerasyon sendromu","synonyms":["Kombine serebellar ve periferik ataksi-sağırlık-diabetes mellitus sendromu","Kombine serebellar ve periferik ataksi-işitme kaybı-diabetes mellitus sendromu"]}},"xrefs":[{"source":"OMIM","code":"616192","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"5A13.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014523","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015436","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":183518,"name":"Hereditary ataxia","classifications":[156,181]},{"orpha":181381,"name":"Other rare diabetes mellitus","classifications":[193]},{"orpha":183625,"name":"Rare genetic diabetes mellitus","classifications":[156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"DNAJC3","name":"DnaJ heat shock protein family (Hsp40) member C3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25466870[PMID]","hgnc":"9439","ensembl":"ENSG00000102580","omim":"601184","loci":["13q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"25466870[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25466870[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-21","source":"15793246[PMID]_25466870[PMID]","terms":[{"hpo":"HP:0002522","label":"Areflexia of lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006827","label":"Atrophy of the spinal cord","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007366","label":"Atrophy/Degeneration affecting the brainstem","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007108","label":"Demyelinating peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010871","label":"Sensory ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null}]}}