{"orpha":457212,"name":"Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic syndromic intellectual disability characterized by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioral abnormalities (with mood instability, aggression, and self-mutilation), and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum, and prominent chin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-457212/","orphanet_url":"https://www.orpha.net/en/disease/detail/457212","names":{"fr":{"name":"Syndrome de tremblement essentiel progressif-trouble sévère du langage-dysmorphie faciale-déficience intellectuelle-trouble du comportement","definition":"Déficience intellectuelle rare d'origine génétique caractérisée par un retard global du développement, une déficience intellectuelle modérée à sévère, des troubles moteurs et des troubles du langage, des troubles du comportement (à savoir, instabilité de l'humeur, agressivité et automutilation) et un tremblement progressif des mains. La dysmorphie faciale se traduit par un rétrécissement de fentes palpébrales, des oreilles larges, un long philtrum et un menton proéminent."},"de":{"name":"Progressiver essentieller Tremor-Sprachstörung-Gesichtsdysmorphie-Intelligenzminderung-Verhaltensstörung-Syndrom","definition":"Eine seltene genetisch bedingte syndromale Form der Intelligenzminderung, die durch eine globale Entwicklungsverzögerung, eine mäßige bis schwere Intelligenzminderung, motorische und sprachliche Beeinträchtigungen, Verhaltensauffälligkeiten (mit Stimmungslabilität, Aggression und Selbstverstümmelung) und einen progressiven Handtremor gekennzeichnet ist. Zu den Gesichtsdysmorphien gehören enge Lidspalten, große Ohren, ein langes Philtrum und ein markantes Kinn."},"es":{"name":"Síndrome progresivo de temblor esencial-trastorno del habla-dismorfia facial-discapacidad intelectual-trastorno de la conducta","definition":"Es una discapacidad intelectual sindrómica de base genética poco frecuente caracterizada por un retraso global del desarrollo, discapacidad intelectual de moderada a grave, alteraciones motoras y del lenguaje, trastornos de conducta (con inestabilidad del estado de ánimo, agresión y automutilación) y temblor progresivo de las manos. La dismorfia facial incluye fisuras palpebrales estrechas, orejas grandes, filtrum largo y mentón prominente."},"it":{"name":"Sindrome tremore essenziale progressivo-deficit del linguaggio-dismorfismi facciali-disabilità intellettiva-anomalie del comportamento","definition":"Si tratta di una disabilità intellettiva sindromica genetica rara, caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva moderata-grave, deficit motori e del linguaggio, anomalie comportamentali (instabilità dell'umore, aggressività e automutilazione) e tremore progressivo delle mani. I dismorfismi facciali comprendono le rime palpebrali strette, le orecchie grandi, il filtro lungo e il mento prominente."},"nl":{"name":"Progressieve essentiële tremor - spraakstoornis - faciale dysmorfie - intellectuele achterstand - gedragsstoornis-syndroom","definition":"Een zeldzame, genetische syndromale intellectuele achterstand, gekarakteriseerd door algehele ontwikkelingsachterstand, matige tot ernstige intellectuele achterstand, stoornissen van motoriek en taal, gedragsafwijkingen (met stemmingswisselingen, agressie, en zelfverminking), en progressieve handtremor. Faciale dysmorfie omvat onder meer smalle ooglidspleten, grote oren, lang filtrum, en prominente kin."},"pt":{"name":"Síndrome de tremor essencial progressivo-perturbação da linguagem-dismorfia facial-perturbação do desenvolvimento intelectual-perturbação comportamental"},"pl":{"name":"Zespół postępującego drżenia samoistnego, upośledzenia mowy, dysmorfii twarzy, niepełnosprawności intelektualnej i nieprawidłowego zachowania"},"cs":{"name":"Syndrom zahrnující progresivní esenciální třes, poruchy řeči, faciální dysmorfismus, mentální retardaci a poruchy chování"},"uk":{"name":"Синдром прогресуючого есенціального тремору-порушення мовлення-дисморфізму обличчя-інтелектуальної недостатності-аномальної поведінки","definition":"A rare genetic syndromic intellectual disability characterized by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioral abnormalities (with mood instability, aggression, and self-mutilation), and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum, and prominent chin."},"zh":{"name":"进行性原发性震颤-言语障碍-面部畸形-智力障碍行为异常综合征"},"tr":{"name":"İlerleyici esansiyel titreme-konuşma bozukluğu-yüz dismorfizm-zihinsel yetersizlik-anormal davranış sendromu"}},"xrefs":[{"source":"OMIM","code":"616269","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"F78.1","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"0014559","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225395","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":307061,"name":"Rare genetic tremor disorder","classifications":[156]},{"orpha":306712,"name":"Rare tremor disorder","classifications":[181]}],"children":[],"genes":[{"symbol":"SLC6A17","name":"solute carrier family 6 member 17","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25704603[PMID]","hgnc":"31399","ensembl":"ENSG00000197106","omim":"610299","loci":["1p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"25704603[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25704603[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-11","source":"25704603[PMID]_25970702[PMID]","terms":[{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002378","label":"Hand tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045025","label":"Narrow palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000742","label":"Self-mutilation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003002","label":"Breast carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005580","label":"Duplication of renal pelvis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012114","label":"Endometrial carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000748","label":"Inappropriate laughter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002861","label":"Melanoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000073","label":"Ureteral duplication","frequency":"Occasional (29-5%)","criteria":null}]}}