{"orpha":926,"name":"Acatalasemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Catalase deficiency"],"definition":"A rare inborn error of metabolism characterized by a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. The disorder is usually asymptomatic but may be associated with oral ulcerations and gangrene, or diabetes mellitus and atherosclerosis in certain populations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-926/","orphanet_url":"https://www.orpha.net/en/disease/detail/926","names":{"fr":{"name":"Acatalasémie","synonyms":["Déficit en catalase"],"definition":"Erreurs innées du métabolisme rares, caractérisées par un déficit en catalase érythrocytaire, enzyme responsable de la dégradation du peroxyde d'hydrogène. La maladie est généralement asymptomatique mais peut être associée dans certaines populations à une ulcération buccale et à la gangrène, ou au diabète sucré et à l'athérosclérose."},"de":{"name":"Akatalasämie","synonyms":["Katalase-Mangel"],"definition":"Ein seltener angeborener Stoffwechseldefekt, der durch einen Mangel an Erythrozytenkatalase, einem Enzym, das für den Abbau von Wasserstoffperoxid verantwortlich ist, gekennzeichnet ist. Die Störung ist in der Regel asymptomatisch, kann aber bei bestimmten Bevölkerungsgruppen mit Mundgeschwüren und Gangrän oder Diabetes mellitus und Arteriosklerose einhergehen."},"es":{"name":"Acatalasemia","synonyms":["Deficiencia de catalasa"],"definition":"Es un trastorno congénito del metabolismo poco frecuente caracterizado por una deficiencia en la catalasa eritrocitaria, enzima que cataliza la descomposición del peróxido de hidrógeno. Este trastorno es generalmente asintomático pero puede asociarse con ulceraciones orales y gangrena, o diabetes mellitus y arteroesclerosis en ciertas poblaciones."},"it":{"name":"Acatalasemia","synonyms":["Deficit di catalasi"],"definition":"Si tratta di un raro errore congenito del metabolismo, caratterizzato da un deficit della catalasi eritrocitaria, un enzima responsabile della degradazione del perossido di idrogeno. In genere i pazienti sono asintomatici, ma in alcune popolazioni la malattia può associarsi a ulcere e gangrena del cavo orale, oppure a diabete mellito e aterosclerosi."},"nl":{"name":"Acatalasemie","synonyms":["Catalasedeficiëntie"],"definition":"Een zeldzaam aangeboren defect van stofwisseling, gekenmerkt door deficiëntie van katalase in erytrocyten, een enzym dat verantwoordelijk is voor afbraak van waterstofperoxide. De aandoening is meestal asymptomatisch, maar kan geassocieerd zijn met orale ulceraties en gangreen, of diabetes mellitus en atherosclerose in bepaalde populaties."},"pt":{"name":"Acatalassemia","synonyms":["Deficiência de catalase"],"definition":"Erro inato raro do metabolismo caracterizado por uma deficiência na catalase eritrocitária, uma enzima responsável pela degradação do peróxido de hidrogénio. A doença é habitualmente assintomática, mas pode estar associada a ulcerações orais e gangrena ou diabetes mellitus e aterosclerose em determinadas populações."},"pl":{"name":"Akatalazja","synonyms":["Niedobór katalazy"]},"cs":{"name":"Akatalazemie","synonyms":["Deficit katalázy"]},"uk":{"name":"Акаталаземія","synonyms":["Дефіцит каталази"],"definition":"A rare inborn error of metabolism characterized by a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. The disorder is usually asymptomatic but may be associated with oral ulcerations and gangrene, or diabetes mellitus and atherosclerosis in certain populations."},"zh":{"name":"过氧化氢酶缺乏症","synonyms":["过氧化氢酶缺乏症"]},"tr":{"name":"Akatalazemi","synonyms":["Katalaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"614097","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E80.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5C57.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013571","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020642","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268419","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"363","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10086141","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309810,"name":"Disorder of peroxisomal alpha-, beta- and omega-oxidation","classifications":[150,156,233]}],"children":[],"genes":[{"symbol":"CAT","name":"catalase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11001624[PMID]","hgnc":"1516","ensembl":"ENSG00000121691","omim":"115500","loci":["11p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.2,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-11","source":"11500062[PMID]_24025477[PMID]_24522161[PMID]_25772105[PMID]_1999334[PMID]_11117918[PMID]","terms":[{"hpo":"HP:0012517","label":"Reduced catalase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000155","label":"Oral ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100758","label":"Gangrene","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000225","label":"Gingival bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000230","label":"Gingivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001935","label":"Microcytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040113","label":"Old-aged sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000166","label":"Severe periodontitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002634","label":"Arteriosclerosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100605","label":"Neoplasm of the larynx","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006357","label":"Premature loss of permanent teeth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001045","label":"Vitiligo","frequency":"Very rare (<4-1%)","criteria":null}]}}