{"orpha":457279,"name":"Houge-Janssens syndrome type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PPP2R5D-related Houge-Janssens syndrome","PPP2R5D-related neurodevelopmental disorder","HJS1"],"definition":"A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-457279/","orphanet_url":"https://www.orpha.net/en/disease/detail/457279","names":{"fr":{"name":"Syndrome de Houge-Janssens type 1","synonyms":["Syndrome de Houge-Janssens associé à PPP2R5D","Trouble du neurodéveloppement associé à PPP2R5D"],"definition":"Déficience intellectuelle syndromique rare caractérisée par une hypotonie, un retard de développement global, un langage limité ou absent, une déficience intellectuelle, une macrocéphalie, une légère dysmorphie faciale, des convulsions et un trouble du spectre de l'autisme. Des anomalies ophtalmologiques, cardiaques, squelettiques et du système nerveux central ont été rapportées en association."},"de":{"name":"Houge-Janssens-Syndrom Typ 1","synonyms":["HJS1","Neurologische Entwicklungsstörung, PPP2R5D-assoziierte"],"definition":"Eine seltene, syndromale Form der Intelligenzminderung, gekennzeichnet durch Hypotonie, globale Entwicklungsverzögerung, eingeschränkte oder fehlende Sprache, intellektuelle Beeinträchtigung, Makrozephalie, leichte dysmorphe Merkmale, Krampfanfälle und Autismus-Spektrum-Störung. Es wurden auch Anomalien des Auges, des Herzens, des Skeletts und des Zentralnervensystems berichtet."},"es":{"name":"Síndrome de Houge-Janssens tipo 1","synonyms":["SHJ1","Síndrome de Houge-Janssens asociado al gen PPP2R5D","Trastorno del neurodesarrollo asociado al gen PPP2R5D"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente caracterizada por hipotonía, retraso global del desarrollo, habla ausente o limitada, discapacidad intelectual, macrocefalia, leves rasgos dismórficos, epilepsia y trastorno del espectro autista. También se han asociado anomalías oftalmológicas, cardíacas, esqueléticas y del sistema nervioso central."},"it":{"name":"Sindrome di Houge-Janssens tipo 1","synonyms":["Sindrome di Houge-Janssens correlata a PPP2R5D","HJS1","Malattia del neurosviluppo correlata a PPP2R5D","Sindrome Houge-Janssens tipo 1","Disturbo dello sviluppo neurologico associato al gene PPP2R5D"],"definition":"È una disabilità intellettiva sindromica rara, caratterizzata da ipotonia, ritardo dello sviluppo globale, assenza o difetti del linguaggio, disabilità intellettiva, macrocefalia, dismorfismi sfumati, crisi epilettiche e disturbo dello spettro autistico. Può associarsi ad anomalie oculari, cardiache, scheletriche e del sistema nervoso centrale."},"nl":{"name":"Syndroom van Houge-Janssens type 1","synonyms":["PPP2R5D-gerelateerde neurologische ontwikkelingsstoornis","HJS1","PPP2R5D-gerelateerd syndroom van Houge-Janssen"],"definition":"Een zeldzame, syndromale intellectuele beperking gekarakteriseerd door hypotonie, algehele ontwikkelingsachterstand, beperkte of afwezige spraak, intellectuele achterstand, macrocefalie, milde dysmorfe kenmerken, insulten en autismespectrumstoornis. Geassocieerde anomalieën van oog, hart, skelet en centraal zenuwstelsel werden reeds gerapporteerd."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-macrocefalia-hipotonia-perturbação comportamental","synonyms":["Doença do neurodesenvolvimento PPP2R5D-realcionada","Síndrome Houge-Janssens 1"]},"pl":{"name":"Zespół niepełnosprawności intelektualnej, wielkogłowia, hipotonii i zaburzeń zachowania","synonyms":["Zespół niepełnosprawności intelektualnej – makrocefalii – hipotonii – zaburzeń zachowania"]},"cs":{"name":"Syndrom zahrnující mentální retardaci, makrocefalii, hypotonii a poruchy chování","synonyms":["PPP2R5D-related Houge-Janssens syndrome","PPP2R5D-related neurodevelopmental disorder","HJS1"]},"uk":{"name":"Синдром інтелектуальної недостатності-макроцефалії-гіпотонії-поведінкових відхилень","definition":"A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported."},"zh":{"name":"智力障碍-巨颅畸形-肌张力低下-行为异常综合征","definition":"一种罕见的综合症性智力障碍，其特征是肌张力低下、全面发育迟缓、言语受限或缺失、智力障碍、大头症、轻度畸形、癫痫发作和自闭症谱系障碍。据报道，该病还伴有眼科、心脏、骨骼和中枢神经系统异常。"},"tr":{"name":"Zihinsel yetersizlik-makrosefali-hipotoni-davranışsal anormallikler sendromu"}},"xrefs":[{"source":"OMIM","code":"616355","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014602","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225354","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":726644,"name":"Houge-Janssens syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"PPP2R5D","name":"protein phosphatase 2 regulatory subunit B'delta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26168268[PMID]","hgnc":"9312","ensembl":"ENSG00000112640","omim":"601646","loci":["6p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"26168268[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26168268[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-12","source":"26576547[PMID]_25972378[PMID]_26168268[PMID]_25533962[PMID]","terms":[{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025160","label":"Abnormal temper tantrums","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000744","label":"Low frustration tolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100702","label":"Arachnoid cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002389","label":"Cavum septum pellucidum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001137","label":"Alternating esotropia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005988","label":"Congenital muscular torticollis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100350","label":"Contracture of the proximal interphalangeal joint of the 4th toe","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011937","label":"Hypoplastic fifth toenail","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005216","label":"Impaired mastication","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001583","label":"Rotary nystagmus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Very rare (<4-1%)","criteria":null}]}}