{"orpha":247245,"name":"Superficial siderosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hemosiderosis of the central nervous system","Superficial hemosiderosis of the CNS","Superficial hemosiderosis of the central nervous system","Superficial siderosis of the CNS","Superficial siderosis of the central nervous system"],"definition":"Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247245/","orphanet_url":"https://www.orpha.net/en/disease/detail/247245","names":{"fr":{"name":"Sidérose superficielle","synonyms":["Hémosidérose du SNC","Hémosidérose du névraxe","Hémosidérose du système nerveux central","Hémosidérose marginale du névraxe","Hémosidérose superficielle du névraxe","Sidérose superficielle du système nerveux central"],"definition":"La sidérose superficielle est une maladie neurologique rare caractérisée par une surdité neurosensorielle progressive, une ataxie cérébelleuse, des signes pyramidaux, et des données d'imagerie révélant des dépôts d'hémosidérine dans les leptoméninges crâniaux et spinaux, ainsi que la couche subpiale. La maladie progresse lentement et les patients peuvent présenter une légère atteinte cognitive, un nystagmus, une dysmétrie, une spasticité, une dysdiadococinésie, une dysarthrie, une hyperréflexie et des signes de Babinski. Les signes additionnels rapportés incluent une démence, une incontinence urinaire, une anosmie, une agueusie et une anisocorie."},"de":{"name":"Superfizielle Siderose","synonyms":["Superfizielle Hämosiderose des Zentralnervensystems","Superfizielle Siderose des ZNS","Superfizielle Siderose des Zentralnervensystems","Hämosiderose des Zentralnervensystems","Superfizielle Hämosiderose des ZNS"],"definition":"Die oberflächliche Siderose ist eine seltene neurologische Erkrankung, die durch eine progrediente Innenohrschwerhörigkeit, zerebelläre Ataxie, pyramidale Zeichen und spezifischen Befunden im Neuroimaging gekennzeichnet ist, die Hämosiderinablagerungen in den spinalen und kranialen Leptomeningen und der subpialen Schicht zeigen. Die Krankheit schreitet langsam voran und die Patienten können sich mit leichter kognitiver Beeinträchtigung, Nystagmus, Dysmetrie, Spastik, Dysdiadochokinese, Dysarthrie, Hyperreflexie und Babinski-Zeichen präsentieren. Zusätzliche Merkmale sind Demenz, Harninkontinenz, Anosmie, Verlust der Geschmacksempfindung und Anisokorie."},"es":{"name":"Siderosis superficial","synonyms":["Hemosiderosis del sistema nervioso central","Hemosiderosis superficial del SNC","Hemosiderosis superficial del sistema nervioso central","Siderosis superficial del SNC","Siderosis superficial del sistema nervioso central"],"definition":"La siderosis superficial es una enfermedad neurológica poco frecuente caracterizada por pérdida auditiva neurosensorial progresiva, ataxia cerebelosa, signos piramidales y hallazgos de neuroimagen que revelan depósitos de hemosiderina en la leptomeninge espinal y craneal y en las capas subpiales. La enfermedad progresa lentamente y los afectados pueden presentarse con leve deterioro cognitivo, nistagmo, dismetría, espasticidad, disdiadococinesia, disartria, hiperreflexia y signo de Babinski. También se han descrito otros rasgos adicionales que incluyen demencia, incontinencia urinaria, anosmia, ageusia y anisocoria."},"it":{"name":"Siderosi superficiale","definition":"La siderosi superficiale è una malattia neurologica rara caratterizzata da sordità neurosensoriale progressiva, atassia cerebellare, segni piramidali e depostiti di emosiderina nelle leptomeningi spianali e craniche e nello strato subpiale, evidenti alle immagini diagnostiche. La malattia progredisce lentamente; i pazienti presentano lieve deficit cognitivo, nistagmo, dismetria, spasticità, disdiadococinesia, disartria, ipereflessia e segno di Babinski. Altri possibili segni clinici sono la demenza, l'incontinenza urinaria, l'anosmia, l'ageusia e l'anisocoria."},"nl":{"name":"Oppervlakkige siderose","synonyms":["Hemosiderose van centraal zenuwstelsel","Oppervlakkige hemosiderose van CZS","Oppervlakkige hemosiderose van centraal zenuwstelsel","Oppervlakkige siderose van CZS","Oppervlakkige siderose van centraal zenuwstelsel"],"definition":"Oppervlakkige siderose is een zeldzame neurologische aandoening en wordt gekarakteriseerd door progressief sensorineuraal gehoorverlies, cerebellaire ataxie, piramidale kenmerken, en bevindingen van neurologische beeldvorming die wijzen op afzettingen van hemosiderine in de spinale en craniële leptomeningen en in de subpiale laag. De ziekte kent een trage progressie en patiënten kunnen milde cognitieve beperkingen, nystagmus, dysmetrie, spasticiteit, dysdiadochokinese, dysartrie, hyperreflexie, en het teken van Babinski vertonen. Bijkomende kenmerken die werden gerapporteerd, zijn onder meer dementie, urine-incontinentie, anosmie, ageusie, en anisocorie."},"pt":{"name":"Siderose superficial"},"pl":{"name":"Sideroza powierzchowna","synonyms":["Hemosiderosis of the central nervous system","Superficial hemosiderosis of the CNS","Superficial hemosiderosis of the central nervous system","Superficial siderosis of the CNS","Superficial siderosis of the central nervous system"]},"cs":{"name":"Superficiální sideróza","synonyms":["Hemosiderosis of the central nervous system","Superficial hemosiderosis of the CNS","Superficial hemosiderosis of the central nervous system","Superficial siderosis of the CNS","Superficial siderosis of the central nervous system"]},"uk":{"name":"Поверхневий сидероз","synonyms":["Гемосидероз центральної нервової системи","Поверхневий гемосидероз центральної нервової системи","Поверхневий гемосидероз ЦНС","Поверхневий сидероз центральної нервової системи","Поверхневий сидероз ЦНС"],"definition":"Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria."},"zh":{"name":"浅表肺沉着病","synonyms":["中枢神经系统浅表含铁血黄素沉着症"],"definition":"浅表铁质沉着症是一种罕见的神经系统疾病，其特征是进行性的感音神经性听力丧失、小脑共济失调、锥体征和神经影像学表现显示含铁血黄素沉积在脊柱和颅骨软脑膜及软脑膜下层。该病进展缓慢，患者可能出现轻度认知障碍、眼球震颤、辨距不良、痉挛、轮替动作困难、构音障碍、反射亢进和巴宾斯基征。其他已报道的特征包括痴呆症、尿失禁、嗅觉丧失、味觉丧失和瞳孔大小不等。"},"tr":{"name":"Yüzeysel sideroz","synonyms":["CNS'nin yüzeysel siderozu","CNS'nin yüzeysel hemosiderozu","Merkezi sinir sisteminin hemosiderozu","Merkezi sinir sisteminin yüzeysel siderozu","Merkezi sinir sisteminin yüzeysel hemosiderozu"]}},"xrefs":[{"source":"ICD-10","code":"I69.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016594","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2938918","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9484","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10070564","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":247242,"name":"Acquired ataxia","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"20083040[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-24","source":"29160113[PMID]_21822983[PMID]","terms":[{"hpo":"HP:0009591","label":"Abnormality of the vestibulocochlear nerve","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011029","label":"Internal hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007240","label":"Progressive gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002334","label":"Abnormality of the cerebellar vermis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002921","label":"Abnormality of the cerebrospinal fluid","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002143","label":"Abnormality of the spinal cord","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009916","label":"Anisocoria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000458","label":"Anosmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100026","label":"Arteriovenous malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006827","label":"Atrophy of the spinal cord","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007366","label":"Atrophy/Degeneration affecting the brainstem","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003698","label":"Difficulty standing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032398","label":"Dysgyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100952","label":"Enlarged sylvian cistern","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000009","label":"Functional abnormality of the bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010829","label":"Impaired temperature sensition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100006","label":"Neoplasm of the central nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010633","label":"Partial anosmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001934","label":"Persistent bleeding after trauma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002138","label":"Subarachnoid hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030321","label":"Abnormal vertebral artery morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0045052","label":"Abnormality of the brachial nerve plexus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}