{"orpha":562509,"name":"Heme oxygenase-1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HO-1 deficiency"],"definition":"A rare inborn error of metabolism characterized by congenital asplenia and childhood or adolescent onset of generalized inflammation, persistent intravascular hemolysis and anemia, severe endothelial injury with abnormal coagulation, bleeding diathesis, and nephropathy. Additional reported manifestations include growth retardation, mild facial dysmorphism, and hepatomegaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-562509/","orphanet_url":"https://www.orpha.net/en/disease/detail/562509","names":{"fr":{"name":"Déficit en hème oxygénase-1","synonyms":["Déficit en HO-1"],"definition":"Erreurs innées du métabolisme rares caractérisée par une asplénie congénitale et l'apparition, au cours de l'enfance ou de l'adolescence, d'une inflammation généralisée, d'une hémolyse et d'une anémie intravasculaires persistantes, des lésions endothéliales sévères s'accompagnant de troubles de coagulation, d'une diathèse hémorragique et d'une néphropathie. Les autres signes cliniques rapportés sont un retard de croissance, une dysmorphie faciale légère et une hépatomégalie."},"de":{"name":"Hämoxygenase 1-Mangel","synonyms":["HO-1-Defizienz"],"definition":"Eine seltene angeborene Stoffwechselstörung, die durch kongenitale Asplenie und im Kindes- oder Jugendalter auftretende generalisierte Entzündungen, anhaltende intravaskuläre Hämolyse und Anämie, schwere Endothelschäden mit abnormaler Gerinnung, Blutungsdiathese und Nephropathie gekennzeichnet ist. Zu den weiteren berichteten Manifestationen gehören Wachstumsverzögerung, leichte Gesichtsdysmorphien und Hepatomegalie."},"es":{"name":"Deficiencia de hemo oxigenasa 1","synonyms":["Deficiencia de HO-1"],"definition":"Es un error congénito del metabolismo poco frecuente caracterizado por asplenia congénita y un inicio en la infancia o en la adolescencia de inflamación generalizada, hemólisis intravascular persistente y anemia, grave lesión endotelial con coagulación anómala, diátesis hemorrágica y nefropatía. Otras manifestaciones adicionales descritas incluyen retraso del crecimiento, leve dismorfia facial y hepatomegalia."},"it":{"name":"Deficit di eme ossigenasi-1","synonyms":["Deficit di HO-1"],"definition":"Si tratta di un raro errore congenito del metabolismo, caratterizzato da asplenia congenita e infiammazione generalizzata che esordisce durate l'infanzia o l'adolescenza, emolisi intravascolare persistente, anemia, grave danno endoteliale con anomalie della coagulazione, diatesi emorragica e nefropatia. I pazienti possono presentare anche ritardo della crescita, dismorfismi facciali sfumati ed epatomegalia."},"nl":{"name":"Heem-oxygenase-1-deficiëntie","synonyms":["HO-1-deficiëntie"],"definition":"Een zeldzaam aangeboren defect van stofwisseling, gekarakteriseerd door congenitale asplenie en in de kindertijd of adolescentie aanvangende gegeneraliseerde inflammatie, persisterende intravasculaire hemolyse en anemie, ernstig letsel van endotheel met abnormale coagulatie, bloedingsneiging, en nefropathie. Bijkomende manifestaties die werden gerapporteerd, zijn onder meer groeiretardatie, milde faciale dysmorfie, en hepatomegalie."},"pt":{"name":"Deficiência de heme oxigenase-1"},"pl":{"name":"Niedobór oksygenazy hemowej-1","synonyms":["HO-1 deficiency"]},"cs":{"name":"Deficit hem oxygenázy-1","synonyms":["HO-1 deficiency"]},"uk":{"name":"Дефіцит гемоксигенази-1","synonyms":["Дефіцит HO-1"],"definition":"A rare inborn error of metabolism characterized by congenital asplenia and childhood or adolescent onset of generalized inflammation, persistent intravascular hemolysis and anemia, severe endothelial injury with abnormal coagulation, bleeding diathesis, and nephropathy. Additional reported manifestations include growth retardation, mild facial dysmorphism, and hepatomegaly."},"zh":{"name":"血红素加氧酶-1缺乏症","synonyms":["HO-1 deficiency"]},"tr":{"name":"Hem oksijenaz-1 eksikliği","synonyms":["HO-1 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"614034","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C58.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013536","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564200","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1841651","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309813,"name":"Disorder of porphyrin and heme metabolism","classifications":[150,156]}],"children":[],"genes":[{"symbol":"HMOX1","name":"heme oxygenase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31216709[PMID]","hgnc":"5013","ensembl":"ENSG00000100292","omim":"141250","loci":["22q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"9884342[PMID]_21088618[PMID]_22023467[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22023467[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-01-19","source":"38178812[PMID]_38178812[PMID]_33546372[PMID]","terms":[{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0033480","label":"Hypobilirubinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003281","label":"Increased circulating ferritin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001954","label":"Recurrent fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001746","label":"Asplenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033106","label":"Elevated circulating D-dimer concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020180","label":"Elevated haptoglobin level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011900","label":"Hypofibrinogenemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001894","label":"Thrombocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032550","label":"Howell-Jolly bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006270","label":"Hypoplastic spleen","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000123","label":"Nephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001981","label":"Schistocytosis","frequency":"Occasional (29-5%)","criteria":null}]}}