{"orpha":73229,"name":"HANAC syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome","Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome"],"definition":"A rare multisystemic disease characterized by small-vessel brain disease, cerebral aneurysm, and extracerebral findings involving the kidney, muscle, and small vessels of the eye.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-73229/","orphanet_url":"https://www.orpha.net/en/disease/detail/73229","names":{"fr":{"name":"Syndrome HANAC","synonyms":["Syndrome autosomique dominant d'hématurie-tortuosités rétiniennes-crampes musculaires","Syndrome héréditaire d'angiopathie-néphropathie-anévrismes-crampes musculaires"],"definition":"Maladie multisystémique rare caractérisée par une atteinte des petits vaisseaux cérébraux et des anévrysmes cérébraux, avec des signes extra-cérébraux, rénaux, musculaires et des petits vaisseaux oculaires."},"de":{"name":"HANAC-Syndrom","synonyms":["Autosomal-dominante familiäre Hämaturie-gewundene Netzhautarteriolen-Kontrakturen-Syndrom","Hereditäres Angiopathie-Nephropathie-Aneurysmen-Muskelkrampf-Syndrom"],"definition":"Eine seltene Multisystemerkrankung, die durch eine Erkrankung der kleinen Gefäße des Gehirns, zerebrale Aneurysmen und extrazerebrale Befunde mit Beteiligung von Niere, Muskulatur und kleiner Gefäße des Auges gekennzeichnet ist."},"es":{"name":"Síndrome HANAC","synonyms":["Síndrome de hematuria familiar autosómica dominante-tortuosidad arteriolar retiniana-contracturas","Síndrome de hereditario de angiopatía-nefropatía-aneurismas-calambres musculares"],"definition":"Es una enfermedad multisistémica poco frecuente caracterizada por enfermedad cerebral de pequeños vasos, aneurisma cerebral y hallazgos extracerebrales que afectan al riñón, músculo y pequeños vasos del ojo."},"it":{"name":"Sindrome HANAC","synonyms":["Ematuria familiare autosomica dominante - tortuosità delle arterie retiniche - contratture","Sindrome angiopatia ereditaria-nefropatia-aneurismi-crampi muscolari"],"definition":"La sindrome HANAC è una malattia multisistemica rara caratterizzata da un interessamento dei piccoli vasi cerebrali, aneurismi cerebrali e segni clinici extracerebrali a livello dei reni, dei muscoli e dei piccoli vasi degli occhi."},"nl":{"name":"HANAC-syndroom","synonyms":["Autosomaal dominante familiale hematurie - retinale arteriële tortuositeit - contracturen-syndroom","Erfelijk angiopathie - nefropathie - aneurysmata - spierkrampen-syndroom"],"definition":"Een zeldzame multisysteemziekte gekarakteriseerd door ziekte van de kleine bloedvaten in de hersenen, cerebraal aneurysma, en extracerebrale bevindingen met betrokkenheid van de nieren, spieren, en kleine bloedvaten van het oog."},"pt":{"name":"Síndrome HANAC","synonyms":["Síndrome de angiopatia hereditária-nefropatia-aneurismas-cãimbras","Síndrome de hematúria familiar autossómica dominante-tortuosidade arteriolar da retina-contraturas"]},"pl":{"name":"Autosomalna dominująca hematuria rodzinna - krętość tętnic siatkówki - przykurcze","synonyms":["Zespół dziedziczna angiopatia-nefropatia-tętniaki-skurcze mięśni","Zespół HANAC"]},"cs":{"name":"Syndrom zahrnující autozomálně dědičnou familiární hematurii, retinální arteriální tortuozitu a kontraktury","synonyms":["HANAC syndrom","Syndrom zahrnující hereditární angiopatii, nefropatii, aneuryzmata a svalové křeče"]},"uk":{"name":"Синдром HANAC","synonyms":["Аутосомно-домінантний сімейний синдром гематурії - звивистості артеріол сітківки - контрактури сітківки","Синдром спадкової ангіопатії-нефропатії-аневризми- мязових спазмів"],"definition":"A rare multisystemic disease characterized by small-vessel brain disease, cerebral aneurysm, and extracerebral findings involving the kidney, muscle, and small vessels of the eye."},"zh":{"name":"HANAC综合征","synonyms":["常染色体显性遗传性血尿-视网膜动脉迂曲-挛缩综合征"]},"tr":{"name":"HANAC sendromu","synonyms":["Kalıtsal anjiyopati-nefropati-anevrizmalar-kas krampları sendromu","Otozomal dominant ailesel hematüri-retinal arteriolar tortuozite-kontraktür sendromu"]}},"xrefs":[{"source":"OMIM","code":"611773","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I99","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB4Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"733821001"},{"source":"MONDO","code":"0012726","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567088","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2673195","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10889","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":477765,"name":"COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency","classifications":[156,181]},{"orpha":544590,"name":"Collagen-related glomerular basement membrane disease","classifications":[156,188,233]}],"children":[],"genes":[{"symbol":"COL4A1","name":"collagen type IV alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18160688[PMID]_20301768[PMID]","hgnc":"2202","ensembl":"ENSG00000187498","omim":"120130","loci":["13q34"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"20818663[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20818663[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-03-27","source":"26260163[PMID]_31453918[PMID]_36372235[PMID]_20301768[PMID]","terms":[{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012841","label":"Retinal vascular tortuosity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004944","label":"Dilatation of the cerebral artery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005562","label":"Multiple renal cysts","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000631","label":"Retinal arterial tortuosity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001342","label":"Cerebral hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012213","label":"Decreased glomerular filtration rate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032325","label":"Lacunar stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007700","label":"Ocular anterior segment dysgenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000573","label":"Retinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null}]}}