{"orpha":488618,"name":"Transketolase deficiency","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Short stature-developmental delay-congenital heart defect syndrome","TKT deficiency"],"definition":"A rare disorder of pentose phosphate metabolism characterized by developmental delay and intellectual disability, delayed or absent speech, short stature, and congenital heart defects (such as ventricular septal defect, atrial septal defect, and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment, and variable facial dysmorphism, among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol, and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-488618/","orphanet_url":"https://www.orpha.net/en/disease/detail/488618","names":{"fr":{"name":"Déficit en transketolase","synonyms":["Déficit en TKT","Syndrome de petite taille-retard de développement-cardiopathie congénitale"],"definition":"Trouble du métabolisme des pentoses-phosphates caractérisé par un retard de développement, une déficience intellectuelle, un retard ou une absence d'élocution, une petite taille et des malformations congénitales cardiaques (à savoir la communication interventriculaire, communication interauriculaire et une persistance du foramen ovale). Parmi les autres signes cliniques rapportés figurent l'hypotonie, l'hyperactivité, la stéréotypie, les anomalies ophtalmologiques (cataracte bilatérale, uvéite, strabisme), la déficience auditive et une dysmorphie faciale variable. Les analyses de laboratoire révèlent un taux élevé de polyols plasmatiques et urinaires (érythritol, arabitol et ribitol) et de sucre-phosphates urinaires (ribose-5-phosphate et xylulose/ribulose-5-phosphate)."},"de":{"name":"Transketolase-Mangel","synonyms":["Kleinwuchs-Entwicklungsverzögerung-kongenitaler Herzfehler-Syndrom","TK-Mangel"],"definition":"Eine seltene Störung des Pentosephosphatstoffwechsels, die durch Entwicklungsverzögerung und Intelligenzminderung, verzögertes oder fehlendes Sprechen, Kleinwuchs und angeborene Herzfehler (wie Ventrikelseptumdefekt, Vorhofseptumdefekt und offenes Foramen ovale) gekennzeichnet ist. Weitere berichtete Merkmale sind Hypotonie, Hyperaktivität, stereotypes Verhalten, ophthalmologische Anomalien (beidseitiger Katarakt, Uveitis, Strabismus), Schwerhörigkeit und variable Gesichtsdysmorphien, um nur einige zu nennen. Laboruntersuchungen zeigen erhöhte Plasma- und Urinpolyole (Erythrit, Arabit und Ribit) und Urinzuckerphosphate (Ribose-5-Phosphat und Xylulose/Ribulose-5-Phosphat)."},"es":{"name":"Deficiencia de transcetolasa","synonyms":["Deficiencia de TKT","Síndrome de talla baja-retraso del desarrollo-defectos cardíacos congénitos"],"definition":"Es un trastorno poco frecuente del metabolismo de las pentosas fosfato caracterizado por retraso del desarrollo y discapacidad intelectual, retraso o ausencia del habla, talla baja y defectos cardíacos congénitos (como defecto del tabique ventricular, defecto del tabique auricular y foramen oval permeable). Otras características adicionales descritas incluyen hipotonía, hiperactividad, estereotipia, anomalías oftalmológicas (catarata bilateral, uveítis, estrabismo), discapacidad auditiva y dismorfia facial variable, entre otras. Las pruebas de laboratorio muestran niveles elevados de polioles en plasma y orina (eritritol, arabitol y ribitol) y azúcares-fosfatos en orina (ribosa-5-fosfato y xilulosa/ribulosa-5-fosfato)."},"it":{"name":"Deficit di transchetolasi","definition":"Si tratta di una malattia rara del metabolismo del pentoso fosfato, caratterizzata da ritardo dello sviluppo, disabilità intellettiva, ritardo o assenza del linguaggio, bassa statura e cardiopatie congenite (difetto del setto interventricolare e interatriale, forame ovale pervio). I pazienti possono presentare anche ipotonia, iperattività, comportamenti stereotipati, anomalie oculari (cataratta bilaterale, uveite, strabismo), compromissione dell'udito e dismorfismi facciali. Gli esami di laboratorio evidenziano livelli elevati di polioli nel plasma e nelle urine (eritritolo, arabitolo e ribitolo) e di zucchero- fosfati nelle urine (ribosio-5-fosfato e xilulosio/ribulosio-5-fosfato)."},"nl":{"name":"Transketolasedeficiëntie","synonyms":["Kleine gestalte - ontwikkelingsachterstand - congenitaal hartdefect-syndroom","TKT-deficiëntie"],"definition":"Een zeldzame stoornis van metabolisme van pentosefosfaat, gekarakteriseerd door ontwikkelingsachterstand en intellectuele achterstand, vertraagde of afwezige spraak, kleine gestalte, en congenitale hartdefecten (zoals ventrikelseptumdefect, atriumseptumdefect, en persisterend foramen ovale). Bijkomende kenmerken die werden gerapporteerd, zijn onder meer hypotonie, hyperactiviteit, stereotiep gedrag, oftalmologische afwijkingen (bilateraal cataract, uveïtis, strabisme), gehoorverlies, en variabele faciale dysmorfie. Laboratoriumonderzoek toont verhoogde gehaltes van polyolen in plasma en urine (erythritol, arabitol, en ribitol) en suikerfosfaten in urine (ribose-5-fosfaat en xylulose/ribulose-5-fosfaat)."},"pt":{"name":"Défice de transcetolase"},"pl":{"name":"Niedobór transketolazy","synonyms":["Short stature-developmental delay-congenital heart defect syndrome","TKT deficiency"]},"cs":{"name":"Deficit transketolázy","synonyms":["Deficit TKT","Syndrom zahrnující malý vzrůst, opožděný vývoj a vrozenou srdeční vadu"]},"uk":{"name":"Дефіцит транскетолази","synonyms":["Синдром низькорослості - затримки розвитку - вродженої вади серця","Дефіцит ТКТ"],"definition":"A rare disorder of pentose phosphate metabolism characterized by developmental delay and intellectual disability, delayed or absent speech, short stature, and congenital heart defects (such as ventricular septal defect, atrial septal defect, and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment, and variable facial dysmorphism, among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol, and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate)."},"zh":{"name":"转酮醇酶缺乏症","synonyms":["身材矮小-发育迟缓-先天性心脏缺陷综合症"]},"tr":{"name":"Transketolaz eksikliği","synonyms":["TKT eksikliği","Kısa boy-gelişme geriliği-doğumsal kalp defekti sendromu"]}},"xrefs":[{"source":"OMIM","code":"617044","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C51.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014881","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1291328","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79186,"name":"Disorder of pentose phosphate metabolism","classifications":[150,156]},{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]}],"children":[],"genes":[{"symbol":"TKT","name":"transketolase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27259054[PMID]","hgnc":"11834","ensembl":"ENSG00000163931","omim":"606781","loci":["3p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"27259054[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27259054[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-10","source":"27259054[PMID}","terms":[{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025550","label":"Elevated circulating ribitol concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003508","label":"Proportionate short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410072","label":"Increased level of ribose in urine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011686","label":"Abnormal coronary artery course","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001051","label":"Seborrheic dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000869","label":"Secondary amenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null}]}}