{"orpha":230,"name":"Dopamine beta-hydroxylase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DBH deficiency"],"definition":"A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-230/","orphanet_url":"https://www.orpha.net/en/disease/detail/230","names":{"fr":{"name":"Déficit en dopamine bêta-hydroxylase","synonyms":["Déficit en DBH"],"definition":"Trouble primaire très rare de la synthèse des neurotransmetteurs monoamines avec un déficit en noradrénaline et en adrénaline entraînant une hypotension orthostatique sévère et un ptosis des paupières chez les sujets jeunes."},"de":{"name":"Dopamin-beta-Hydroxylase-Mangel","synonyms":["DBH-Mangel","Noradrenalin-Mangel"],"definition":"Eine sehr seltene primäre Monoamin-Neurotransmitter-Synthesestörung mit Noradrenalin - und Adrenalinmangel, die in jungen Jahren zu schwerer orthostatischer Hypotonie und Ptosis der Augenlider führt."},"es":{"name":"Deficiencia de dopamina beta-hidroxilasa","synonyms":["Deficiencia de DBH"],"definition":"Es un trastorno primario muy poco frecuente de la síntesis de neurotransmisores monoamínicos con deficiencia de norepinefrina y adrenalina que conduce a hipotensión ortostática grave de inicio a una edad temprana y ptosis palpebral."},"it":{"name":"Deficit di dopamina beta-idrossilasi","synonyms":["Deficit di DBH"],"definition":"Il deficit primitivo di dopamina beta-idrossilasi (DBH) è una malattia molto rara della sintesi dei neurotrasmettitori monoaminici, associata al deficit di noradrenalina e adrenalina, che causa ipotensione ortostatica grave ad esordio giovanile e ptosi palpebrale."},"nl":{"name":"Deficiëntie van dopamine-bèta-hydroxylase","synonyms":["DBH-deficiëntie"],"definition":"Een zeer zeldzame primaire stoornis van synthese van monoamine neurotransmitter, met deficiëntie van norepinefrine en adrenaline die leidt tot op jonge leeftijd optredende ernstige orthostatische hypotensie en ptosis van oogleden."},"pt":{"name":"Deficiência de dopamina beta-hidroxilase","synonyms":["Deficiência de DBH"],"definition":"Doença primária da síntese de neurotransmissores de monoaminas muito rara com défices de noradrenalina e adrenalina que originam hipotensão ortostática grave de início precoce e ptose palpebral."},"pl":{"name":"Niedobór beta-hydroksylazy dopaminy","synonyms":["Niedobór noradrenaliny","Niedobór norepinefryny"]},"cs":{"name":"Deficit dopamin beta-hydroxylázy","synonyms":["Deficit noradrenalinu","Deficit norepinefrinu"]},"uk":{"name":"Дефіцит бета-гідроксилази дофаміну","synonyms":["Дефіцит DBH"],"definition":"A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis."},"zh":{"name":"多巴胺β羟化酶缺乏","synonyms":["去甲肾上腺素缺乏症"]},"tr":{"name":"Dopamin beta-hidroksilaz eksikliği","synonyms":["Noradrenalin eksikliği","Norepinefrin eksikliği"]}},"xrefs":[{"source":"OMIM","code":"223360","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G90.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C59.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1091941812"},{"source":"MONDO","code":"0009123","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535600","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342687","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1903","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309830,"name":"Disorder of catecholamine synthesis","classifications":[150,156]},{"orpha":448426,"name":"Genetic primary orthostatic hypotension","classifications":[156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":182058,"name":"Primary orthostatic hypotension","classifications":[181]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"DBH","name":"dopamine beta-hydroxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301647[PMID]","hgnc":"2689","ensembl":"ENSG00000123454","omim":"609312","loci":["9q34.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"33034372[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"33034372[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-28","source":"27778639[PMID]_20301647[PMID]_2300263[PMID]_3010116[PMID]","terms":[{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011979","label":"Elevated urinary dopamine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001278","label":"Orthostatic hypotension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012384","label":"Rhinitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003259","label":"Elevated circulating creatinine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009020","label":"Exercise-induced muscle fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003138","label":"Increased blood urea nitrogen","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012877","label":"Retrograde ejaculation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003115","label":"Abnormal EKG","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000017","label":"Nocturia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012670","label":"Orthostatic syncope","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Very rare (<4-1%)","criteria":null}]}}