{"orpha":2224,"name":"Hypertryptophanemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare inborn error of metabolism characterized by congenital hypertryptophanemia and hyperserotonemia. Patients are typically asymptomatic, although developmental delay, intellectual disability, and behavioral abnormalities, among others, have been reported in association.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2224/","orphanet_url":"https://www.orpha.net/en/disease/detail/2224","names":{"fr":{"name":"Hypertryptophanémie familiale","definition":"Erreur innée du métabolisme rare caractérisée par une hypertryptophanémie congénitale et une hypersérotoninémie. Les patients sont généralement asymptomatiques, mais un retard de développement, une déficience intellectuelle et des troubles du comportement, entre autres, ont été rapportés en association avec la maladie."},"de":{"name":"Hypertryptophanämie, familiäre","definition":"Eine seltene angeborene Stoffwechselstörung, die durch angeborene Hypertryptophanämie und Hyperserotonämie gekennzeichnet ist. Die Patienten sind in der Regel asymptomatisch, obwohl unter anderem über Entwicklungsverzögerungen, Intelligenzminderungen und Verhaltensanomalien berichtet worden ist."},"es":{"name":"Hipertriptofanemia familiar","definition":"Es un error congénito del metabolismo, poco frecuente, caracterizado por hipertriptofanemia e hiperserotonemia congénitas. Los pacientes suelen permanecer asintomáticos, aunque se ha descrito la asociación con retraso psicomotor, discapacidad intelectual y trastornos de la conducta, entre otros."},"it":{"name":"Ipertriptofanemia","definition":"Si tratta di un errore congenito raro del metabolismo, caratterizzato da ipertriptofanemia e iperserotonemia congenite. Di solito i pazienti sono asintomatici, ma possono presentare ritardo dello sviluppo, disabilità intellettiva e anomalie comportamentali."},"nl":{"name":"Hypertryptofanemie","definition":"Een zeldzaam aangeboren defect van stofwisseling, gekenmerkt door congenitale hypertryptofanemie en hyperserotonemie. Patiënten azijn doorgaans asymptomatisch, maar associatie van onder meer ontwikkelingsachterstand, intellectuele achterstand, en gedragsafwijkingen werden ook reeds gerapporteerd."},"pt":{"name":"Hipertriptofanemia"},"pl":{"name":"Hipertrypofanemia"},"cs":{"name":"Hypertryptofanemie"},"uk":{"name":"Гіпертриптофанемія","definition":"A rare inborn error of metabolism characterized by congenital hypertryptophanemia and hyperserotonemia. Patients are typically asymptomatic, although developmental delay, intellectual disability, and behavioral abnormalities, among others, have been reported in association."},"zh":{"name":"高色氨酸血症"},"tr":{"name":"Hipertriptofanemi"}},"xrefs":[{"source":"OMIM","code":"600627","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1215141359"},{"source":"MONDO","code":"0010907","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563467","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931837","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2871","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":289829,"name":"Disorder of tryptophan metabolism","classifications":[150,156]}],"children":[],"genes":[{"symbol":"TDO2","name":"tryptophan 2,3-dioxygenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28285122[PMID]","hgnc":"11708","ensembl":"ENSG00000151790","omim":"191070","loci":["4q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-02-04","source":"28285122[PMID]_36188218[PMID]","terms":[{"hpo":"HP:0500134","label":"Hypertryptophanemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003144","label":"Increased serum serotonin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003361","label":"Tryptophanuria","frequency":"Very frequent (99-80%)","criteria":null}]}}