{"orpha":48818,"name":"Aceruloplasminemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary ceruloplasmin deficiency"],"definition":"A rare adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia (often microcytic), visceral and brain iron accumulation, diabetes, various neurological symptoms and retinal degeneration.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-48818/","orphanet_url":"https://www.orpha.net/en/disease/detail/48818","names":{"fr":{"name":"Acéruléoplasminémie","synonyms":["Déficit héréditaire en céruloplasmine"],"definition":"Neurodégénérescence rare avec surcharge cérébrale en fer (NBIA) apparaissant à l'âge adulte, caractérisée par une anémie (souvent microcytaire), une accumulation de fer au niveau viscéral et cérébral, un diabète, divers symptômes neurologiques et une dégénérescence rétinienne."},"de":{"name":"Aceruloplasminämie","synonyms":["Ceruloplasmin-Mangel, hereditärer"],"definition":"Die A-Zöruloplasminämie ist eine im Erwachsenenalter beginnende neurodegenerative Erkrankung mit Eisenspeicherung im Gehirn (NBIA; s. dort). Die Krankheit ist gekennzeichnet durch Anämie, Retinopathie, Diabetes und verschiedene neurologische Symptome."},"es":{"name":"Aceruloplasminemia","synonyms":["Deficiencia hereditaria de ceruloplasmina"],"definition":"Es un trastorno neurodegenerativo por acúmulo cerebral de hierro (NBIA; por sus siglas en inglés) de inicio en la edad adulta caracterizado por anemia, degeneración retiniana y diabetes, además de síntomas neurológicos variados."},"it":{"name":"Aceruloplasminemia","synonyms":["Deficit ereditario di ceruloplasmina"]},"nl":{"name":"Aceruloplasminemie","synonyms":["Erfelijke ceruloplasminedeficiëntie","Erfelijke hypoceruloplasminemie"],"definition":"Een zeldzame, in de volwassenheid aanvangende neurodegeneratieve aandoening ijzerstapeling in hersenen (NBIA), gekenmerkt door anemie, retinadegeneratie, diabetes en verschillende neurologische symptomen."},"pt":{"name":"Aceruloplasminemia"},"pl":{"name":"Aceruloplazminemia","synonyms":["Dziedziczny Niedobór ceruloplazminy"]},"cs":{"name":"Aceruloplasminemie","synonyms":["Dědičný deficit ceruloplasminu"]},"uk":{"name":"Ацерулоплазмінемія","synonyms":["Спадковий дефіцит церулоплазміну"],"definition":"A rare adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms."},"zh":{"name":"血浆铜蓝蛋白缺乏症","synonyms":["遗传性血浆铜蓝蛋白缺乏症"]},"tr":{"name":"Aseruloplazminemi","synonyms":["Kalıtsal seruloplazmin eksikliği"]}},"xrefs":[{"source":"OMIM","code":"604290","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A00.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"688027972"},{"source":"MONDO","code":"0011426","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536004","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0878682","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9499","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98360,"name":"Constitutional anemia due to iron metabolism disorder","classifications":[156,194]},{"orpha":309839,"name":"Disorder of copper metabolism","classifications":[150,156]},{"orpha":309842,"name":"Disorder of iron metabolism and transport","classifications":[150,156]},{"orpha":385,"name":"Neurodegeneration with brain iron accumulation","classifications":[156,181]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"CP","name":"ceruloplasmin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301666[PMID]","hgnc":"2295","ensembl":"ENSG00000047457","omim":"117700","loci":["3q24-q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Japan","status":"Validated","source":"10449129[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.09,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-12","source":"20301666[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025498","label":"Aceruloplasminemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004840","label":"Hypochromic microcytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003281","label":"Increased circulating ferritin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005505","label":"Refractory anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010837","label":"Decreased circulating ceruloplasmin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011967","label":"Decreased circulating copper concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040303","label":"Decreased serum iron","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012465","label":"Elevated hepatic iron concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000608","label":"Macular degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000546","label":"Retinal degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010994","label":"Abnormal corpus striatum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012090","label":"Abnormal pancreas morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012696","label":"Abnormal thalamic MRI signal intensity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100321","label":"Abnormality of the dentate nucleus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002304","label":"Akinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012179","label":"Craniofacial dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000273","label":"Facial grimacing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012675","label":"Iron accumulation in brain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Excluded (0%)","criteria":null}]}}