{"orpha":397922,"name":"Ferro-cerebro-cutaneous syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cerebro-cutaneous syndrome with iron overload"],"definition":"A rare neurodegenerative disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397922/","orphanet_url":"https://www.orpha.net/en/disease/detail/397922","names":{"fr":{"name":"Syndrome ferro-cérébro-cutané","synonyms":["Syndrome cérébro-cutané avec surcharge en fer"],"definition":"Maladie neurodégénérative rare caractérisée par une neurodégénérescence progressive, des anomalies cutanées, y compris une ichtyose ou une dermatite séborrhéique de degré variable, et une surcharge systémique en fer. Les patients présentent des crises convulsives d'apparition infantile, une encéphalopathie, des mouvements oculaires anormaux, une hypotonie axiale et hypertonie périphérique, des réflexes rapides, une cécité et une surdité corticales, des myoclonies et une hépato/splénomégalie, ainsi que des anomalies buccodentaires, notamment une microdontie, des dents très espacées et pointues et un retard d'éruption dentaire, ainsi qu'une prolifération gingivale."},"de":{"name":"Ferro-zerebro-kutanes Syndrom","synonyms":["Zerebro-kutanes Syndrom mit Eisenüberladung"],"definition":"Eine seltene neurologische Erkrankung, die durch fortschreitende Neurodegeneration, Hautanomalien, einschließlich Ichthyose oder seborrhoischer Dermatitis unterschiedlichen Grades, und systemische Eisenüberladung gekennzeichnet ist. Die Patienten zeigen Krampfanfälle im Kindesalter, Enzephalopathie, abnorme Augenbewegungen, axiale Hypotonie mit peripherer Hypertonie, ausgeprägte Reflexe, kortikale Blindheit und Taubheit, Myoklonus und Hepato-/Splenomegalie sowie orale Manifestationen wie Mikrodontie, weit auseinander stehende und spitze Zähne mit verzögertem Durchbruch und Zahnfleischwucherung."},"es":{"name":"Síndrome férrico-cerebro-cutáneo","synonyms":["Síndrome cerebro-cutáneo con sobrecarga de hierro"],"definition":"Es una enfermedad neurodegenerativa poco frecuente caracterizada por neurodegeneración progresiva, anomalías cutáneas con ictiosis o dermatitis seborreica de grado variable y sobrecarga sistémica de hierro. Los pacientes presentan crisis epilépticas de inicio en la lactancia, encefalopatía, movimientos oculares anómalos, hipotonía axial con hipertonía periférica, reflejos vivos, sordera y ceguera cortical, mioclonos y hepato/esplenomegalia, así como manifestaciones orales, que incluyen microdoncia, dientes muy espaciados y puntiagudos con retraso en la erupción, y sobrecrecimiento gingival."},"it":{"name":"Sindrome ferro-cerebro-cutanea","synonyms":["Sindrome cerebro-cutanea con sovrccarico di ferro"],"definition":"La sindrome ferro-cerebro-cutanea è un'epatopatia metabolica genetica rara, caratterizzata da degenerazione neurologica progressiva, anomalie cutanee (ittiosi o dermatite seborroica di gravità variabile) e sovraccarico sistemico di ferro. I pazienti presentano crisi epilettiche ad esordio infantile, encefalopatia, movimenti anomali degli occhi, ipotonia assiale con ipertonia periferica, velocizzazione dei riflessi, cecità e sordità corticale, mioclono, epato/splenomegalia e segni clinici nella cavità orale, compresa la microdontia, i denti appuntiti e iperdistanziati con ritardo nell'eruzione, l'ipertrofia delle gengive."},"nl":{"name":"Ferro-cerebro-cutaan syndroom","synonyms":["Cerebro-cutaan syndroom met ijzerstapeling"],"definition":"Een zeldzame neurodegeneratieve aandoening, gekenmerkt door progressieve neurodegeneratie, cutane afwijkingen, waaronder variabele gradaties van ichthyosis of seborroïsche dermatitis, en systemische ijzerstapeling. Patiënten vertonen infantiel aanvangende insulten, encefalopathie, abnormale oogbewegingen, axiale hypotonie met perifere hypertonie, snelle reflexen, corticale blindheid en doofheid, myoclonus en hepato-/splenomegalie, alsook orale manifestaties, waaronder microdontie, ver uit elkaar staande en puntige tanden met vertraagde eruptie, en gingivale overgroei."},"pt":{"name":"Síndrome ferro - cérebro - cutâneo"},"pl":{"name":"Zespół mózgowo-skórny z gromadzeniem żelaza","synonyms":["Cerebro-cutaneous syndrome with iron overload"],"definition":"Rzadka choroba neurodegeneracyjna charakteryzująca się postępującą degeneracją układu nerwowego, nieprawidłowościami skórnymi, w tym rybią łuską o różnym stopniu nasilenia lub łojotokowym zapaleniem skóry oraz ogólnoustrojowym przeciążeniem żelazem. U pacjentów występują napady padaczkowe o początku w wieku dziecięcym, encefalopatia, nieprawidłowe ruchy gałek ocznych, hipotonia osiowa z wzmożonym napięciem obwodowym, żywe odruchy, ślepota korowa i głuchota, mioklonie i hepato/splenomegalia, a także objawy ze strony jamy ustnej, w tym mikrodoncja, szeroko rozstawione i spiczaste zęby, opóźnione wyrzynanie zębów oraz przerost dziąseł."},"cs":{"name":"Fero-cerebro-kutánní syndrom","synonyms":["Cerebro-kutánní syndrom s přetížením železem"]},"uk":{"name":"Ферроцереброкутанний синдром","synonyms":["Церебро-шкірний синдром з надлишком заліза"],"definition":"Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth."},"zh":{"name":"铁超负荷-脑-皮肤综合征","synonyms":["脑皮肤综合征伴铁超载"],"definition":"铁-脑-皮肤综合征是一种罕见的遗传性代谢性肝病，其特征是进行性神经变性、皮肤异常（包括不同程度的鱼鳞病或脂溢性皮炎）以及全身铁超载。患者表现为婴儿期癫痫发作、脑病、眼球运动异常、轴性肌张力降低伴外周肌张力增高、反射亢进、皮质盲和耳聋、肌阵挛和肝/脾肿大，以及口腔表现（包括小牙畸形、牙齿稀疏和尖牙延迟萌出以及牙龈过度生长）。"},"tr":{"name":"Ferro-serebro-kutanöz sendrom","synonyms":["Aşırı demir yüklemesi ile seyreden serebro-kütanöz sendromu"]}},"xrefs":[{"source":"OMIM","code":"301072","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.10","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018346","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751570","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":309515,"name":"Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation","classifications":[150,156]},{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":156604,"name":"Genetic parenchymatous liver disease","classifications":[156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]},{"orpha":101939,"name":"Rare parenchymal liver disease","classifications":[183]}],"children":[],"genes":[{"symbol":"PIGA","name":"phosphatidylinositol glycan anchor biosynthesis class A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24259288[PMID]","hgnc":"8957","ensembl":"ENSG00000165195","omim":"311770","loci":["Xp22.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"24259288[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24259288[PMID]"}],"phenotypes":null}