{"orpha":1192,"name":"Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome","Feigenbaum-Bergeron-Richardson syndrome"],"definition":"A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1192/","orphanet_url":"https://www.orpha.net/en/disease/detail/1192","names":{"fr":{"name":"Syndrome d'athérosclérose-surdité-épilepsie-diabète-néphropathie","synonyms":["Syndrome de Feigenbaum-Bergeron-Richardson"],"definition":"Maladie rare et sévère du système circulatoire caractérisée par une athérosclérose sévère, diffuse et prématurée (touchant l'aorte et les artères cérébrales, coronaires et rénales), une surdité neurosensorielle, un diabète sucré, une détérioration neurologique progressive avec symptômes cérébelleux et crises myocloniques photosensibles, et une néphropathie progressive. Un déficit partiel en complexes mitochondriaux III et IV dans les reins et les fibroblastes (mais pas dans les muscles) peut être associé. Aucun cas n'a été décrit dans la littérature depuis 1994."},"de":{"name":"Atherosklerose-Schwerhörigkeit-Diabetes-Epilepsie-Nephropathie-Syndrom","synonyms":["Feigenbaum-Bergeron-Richardson-Syndrom"],"definition":"Eine seltene, schwere Erkrankung des Kreislaufsystems, die durch vorzeitige, diffuse, schwere Atherosklerose (einschließlich der Aorta und der Nieren-, Koronar- und Hirnarterien), sensorineurale Schwerhörigkeit, Diabetes mellitus, fortschreitende neurologische Verschlechterung mit zerebellären Symptomen und photomyoklonischen Anfällen sowie progressive Nephropathie gekennzeichnet ist. Ein partieller Mangel der mitochondrialen Komplexe III und IV in der Niere und den Fibroblasten (aber nicht im Muskel) kann damit einhergehen. Seit 1994 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de ateroesclerosis-sordera-diabetes-epilepsia-nefropatía","synonyms":["Síndrome de Feigenbaum-Bergeron-Richardson","Síndrome de ateroesclerosis-hipoacusia-diabetes-epilepsia-nefropatía"],"definition":"Es una enfermedad grave y poco frecuente del sistema circulatorio caracterizada por aterosclerosis grave, temprana y difusa (incluyendo la aorta y las arterias renales, coronarias y cerebrales), sordera neurosensorial, diabetes mellitus, deterioro neurológico progresivo con síntomas cerebelosos y crisis epilépticas fotomioclónicas, así como nefropatía progresiva. Puede asociar una deficiencia parcial de los complejos mitocondriales III y IV en el riñón y en los fibroblastos (pero no en el músculo). No ha habido más casos descritos en la literatura desde 1994."},"it":{"name":"Sindrome da aterosclerosi-sordità-diabete-epilessia-nefropatia","synonyms":["Sindrome di Feigenbaum-Bergeron-Richardson"],"definition":"Si tratta di una malattia rara e grave dell'apparato circolatorio, caratterizzata da aterosclerosi precoce, generalizzata e grave (dell'aorta e delle arterie renali, coronarie e cerebrali), sordità neurosensoriale, diabete mellito, deterioramento neurologico progressivo con sintomi cerebellari e crisi foto-miocloniche, e nefropatia progressiva. Può associarsi a un deficit parziale dei complessi mitocondriali III e IV nei reni e nei fibroblasti (ma non nei muscoli). Non sono stati descritti nuovi casi dopo il 1994."},"nl":{"name":"Atherosclerose- doofheid - diabetes - epilepsie - nefropathie-syndroom","synonyms":["Syndroom van Feigenbaum-Bergeron-Richardson"],"definition":"Een zeldzame, ernstige ziekte van het circulatiesysteem, gekarakteriseerd door premature, diffuse, ernstige atherosclerose (inclusief de aorta en renale, coronaire en cerebrale slagaders), sensorineurale doofheid, diabetes mellitus, progressieve neurologische aftakeling met cerebellaire symptomen en fotomyoclonische insulten, en progressieve nefropathie. Partiële deficiëntie van mitochondriale complexen III en IV in de nieren en fibroblasten (maar niet in spieren) kan geassocieerd zijn. Sinds 1994 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de aterosclerose-surdez-diabetes-epilepsia-nefropatia","synonyms":["Síndrome Feigenbaum-Bergeron-Richardson"]},"pl":{"name":"Miażdzyca tętnic - głuchota - cukrzyca - padaczka - nefropatia","synonyms":["Zespół Feigenbauma, Bergerona i Richardsona"]},"cs":{"name":"Syndrom zahrnující aterosklerózu, hluchotu, diabetes, epilepsii a nefropatii","synonyms":["Feigenbaumův-Bergeronův-Richardsonův syndrom","Feigenbaum-Bergeron-Richardsonův syndrom"]},"uk":{"name":"Синдром атеросклерозу-глухоти-діабету-епілепсії-нефропатії","synonyms":["Синдром атеросклерозу - втрати слуху - діабету - епілепсії - нефропатії","Синдром Фейгенбаума-Берджерона-Річардсона"],"definition":"A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994."},"zh":{"name":"动脉粥样硬化-耳聋-糖尿病-癫痫-肾病综合征","synonyms":["Feigenbaum-Bergeron-Richardson 综合征"]},"tr":{"name":"Ateroskleroz-sağırlık-diyabet-epilepsi-nefropati sendromu","synonyms":["Ateroskleroz-işitme kaybı-diyabet-epilepsi-nefropati sendromu","Feigenbaum-Bergeron-Richardson sendromu"]}},"xrefs":[{"source":"OMIM","code":"209010","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I70.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1437964451"},{"source":"MONDO","code":"0008843","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536178","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931125","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2279","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98028,"name":"Rare circulatory system disease"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8172238[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8172238[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003287","label":"Abnormality of mitochondrial metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007201","label":"Cerebral artery atherosclerosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001677","label":"Coronaryartery atherosclerosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001327","label":"Photomyoclonic seizures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002344","label":"Progressive neurologic deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001633","label":"Abnormal mitral valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100545","label":"Arterial stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null}]}}