{"orpha":35708,"name":"Aromatic L-amino acid decarboxylase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AADC deficiency"],"definition":"A rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin. Clinical manifestations are typically characterized by early-onset muscular hypotonia, movement disorders (oculogyric crisis, dystonia), developmental delay, ptosis and non-motor symptoms (sleep disturbance, irritability, excessive sweating, and nasal congestion).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35708/","orphanet_url":"https://www.orpha.net/en/disease/detail/35708","names":{"fr":{"name":"Déficit en décarboxylase des acides aminés aromatiques","synonyms":["Déficit en AADC"],"definition":"Maladie neurométabolique rare et grave, d'origine génétique, associée à des manifestations cliniques en lien avec une altération de la synthèse de la dopamine, de la noradrénaline, de l'adrénaline et de la sérotonine. Généralement, les signes cliniques sont : une hypotonie musculaire précoce, des troubles du mouvement (crise oculogyrique, dystonie), un retard de développement, le ptosis et des symptômes non moteurs (troubles du sommeil, irritabilité, transpiration excessive et congestion nasale)."},"de":{"name":"Aromatische-L-Aminosäuredecarboxylase-Mangel","synonyms":["AADC-Mangel"],"definition":"Eine genetisch bedingte schwere neurometabolische Störung, die mit klinischen Manifestationen im Zusammenhang mit einer gestörten Synthese von Dopamin, Noradrenalin, Adrenalin und Serotonin einhergeht. Die klinischen Manifestationen sind typischerweise durch früh einsetzende Muskelhypotonie, Bewegungsstörungen (okulogyrische Krise, Dystonie), Entwicklungsverzögerung, Ptosis und nicht-motorische Symptome (Schlafstörungen, Reizbarkeit, übermäßiges Schwitzen und verstopfte Nase) gekennzeichnet."},"es":{"name":"Deficiencia de L-aminoácido aromático decarboxilasa","synonyms":["Deficiencia de AADC"],"definition":"Es un trastorno genético neurometabólico grave y poco frecuente asociado a manifestaciones clínicas relacionadas con una alteración en la síntesis de dopamina, noradrenalina, adrenalina y serotonina. Las manifestaciones clínicas se caracterizan típicamente por hipotonía muscular de inicio precoz, trastornos del movimiento (crisis oculógiras, distonía), retraso del desarrollo, ptosis y síntomas no motores (trastornos del sueño, irritabilidad, sudoración excesiva y congestión nasal)."},"it":{"name":"Deficit di decarbossilasi degli L-aminoacidi aromatici","synonyms":["Deficit di AADC"],"definition":"Il deficit di decarbossilasi degli L-aminoacidi aromatici (AADC) è una malattia neurometabolica grave rara, di origine genetica, i cui segni clinici sono correlati alla compromissione della sintesi della dopamina, della noradrenalina, dell'adrenalina e della serotonina. Il quadro clinico comprende l'ipotonia muscolare ad esordio precoce, i disturbi del movimento (crisi oculogire, distonia), il ritardo dello sviluppo, la ptosi e i sintomi non motori (disturbi del sonno, irritabilità, iperidrosi e congestione nasale)."},"nl":{"name":"Deficiëntie van aromatisch L-aminozuur-decarboxylase","synonyms":["AADC-deficiëntie"],"definition":"Een zeldzame, ernstige, genetische neurometabole aandoening, geassocieerd met klinische manifestaties gerelateerd aan verstoorde synthese van dopamine, noradrenaline, adrenaline en serotonine. Typische klinische manifestaties zijn vroege aanvang van musculaire hypotonie, bewegingsstoornissen (oculogyrische crisis, dystonie), ontwikkelingsachterstand, ptose en niet-motorische symptomen (slaapstoornis, prikkelbaarheid, excessief zweten, en neuscongestie)."},"pt":{"name":"Deficiência de L-aminoácidos aromáticos descarboxilase"},"pl":{"name":"Niedobór dekarboksylazy L-aminokwasów aromatycznych","synonyms":["Niedobór AADC"]},"cs":{"name":"Deficit dekarboxylázy aromatických L-aminokyselin","synonyms":["Deficit AADC"]},"uk":{"name":"Дефіцит декарбоксилази ароматичних L-амінокислот","synonyms":["Дефіцит AADC"],"definition":"A rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin. Clinical manifestations are typically characterized by early-onset muscular hypotonia, movement disorders (oculogyric crisis, dystonia), developmental delay, ptosis and non-motor symptoms (sleep disturbance, irritability, excessive sweating, and nasal congestion)."},"zh":{"name":"芳香族L-氨基酸脱羧酶缺乏症","synonyms":["AADC缺乏症"]},"tr":{"name":"Aromatik L-amino asit dekarboksilaz eksikliği","synonyms":["AADC eksikliği"]}},"xrefs":[{"source":"OMIM","code":"608643","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C59.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1134258245"},{"source":"MONDO","code":"0012084","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537437","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1291564","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"770","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10084110","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":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DDC","name":"dopa decarboxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21541720[PMID]_24865461[PMID]","hgnc":"2719","ensembl":"ENSG00000132437","omim":"107930","loci":["7p12.2-p12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":140.0,"area":"Worldwide","status":"Validated","source":"30689738[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30689738[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-08-30","source":"36928758[PMID]_35485958[PMID]_28100251[PMID]","terms":[{"hpo":"HP:0025455","label":"Decreased CSF 5-hydroxyindolacetic acid concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003785","label":"Decreased CSF homovanillic acid concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010553","label":"Oculogyric crisis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002375","label":"Hypokinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002509","label":"Limb hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000616","label":"Miosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001742","label":"Nasal congestion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0034392","label":"Joint contracture","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Very rare (<4-1%)","criteria":null}]}}