{"orpha":75858,"name":"MORM syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome"],"definition":"A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75858/","orphanet_url":"https://www.orpha.net/en/disease/detail/75858","names":{"fr":{"name":"Syndrome MORM","synonyms":["Syndrome de déficience intellectuelle-obésité du tronc-dystrophie rétinienne-micropénis"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par un retard de langage et une déficience intellectuelle légère à modérée, associés à une obésité abdominale, une dystrophie rétinienne congénitale non progressive avec mauvaise vision nocturne et acuité visuelle réduite, ainsi qu'à un micropénis chez les hommes. Des cas de cataracte peuvent survenir dans la deuxième ou troisième décennie de vie."},"de":{"name":"MORM-Syndrom","synonyms":["Intelligenzminderung - stammbetonte Adipositas - Netzhautdystrophie - Mikropenis"],"definition":"Eine seltene genetische syndromale Form der Intelligenzminderung, die durch Sprachverzögerung und leichte bis mittelschwere intellektuelle Beeinträchtigung in Verbindung mit stammbetonter Adipositas, kongenitaler nicht-progressiver Netzhautdystrophie mit schlechtem Nachtsehen und verminderter Sehschärfe sowie Mikropenis bei Männern gekennzeichnet ist. Katarakte können im zweiten oder dritten Lebensjahrzehnt auftreten."},"es":{"name":"Síndrome MORM","synonyms":["Discapacidad intelectual-obesidad troncal-distrofia retiniana-micropene"],"definition":"Es una discapacidad intelectual sindrómica de origen genético poco frecuente caracterizada por retraso del lenguaje y discapacidad intelectual de leve a moderada asociada a obesidad troncal, distrofia retiniana no progresiva congénita con afectación de la visión nocturna y disminución de la agudeza visual, y micropene en varones. Las cataratas pueden debutar en la segunda o tercera década de la vida."},"it":{"name":"Sindrome MORM","synonyms":["Deficit cognitivo - obesità del tronco - distrofia retinica - micropene","Ritardo mentale - obesità del tronco - distrofia retinica - micropene"],"definition":"Si tratta di una disabilità intellettiva sindromica rara, di origine genetica, caratterizzata da ritardo del linguaggio e disabilità intellettiva lieve-moderata, associata a obesità del tronco, distrofia congenita non progressiva della retina con scarsa visione notturna e riduzione dell'acuità visiva, e micropene nei maschi. La cataratta può insorgere nella seconda o terza decade di vita."},"nl":{"name":"MORM-syndroom","synonyms":["Intellectuele achterstand - rompobesitas - retinale dystrofie - micropenis","Mentale retardatie - rompobesitas - retinale dystrofie - micropenis"],"definition":"Een zeldzame, genetische syndromale intellectuele achterstand, gekarakteriseerd door taalachterstand en milde tot matige intellectuele achterstand, geassocieerd met centrale obesitas, congenitale niet-progressieve retinadystrofie met slecht nachtzicht en gereduceerde gezichtsscherpte, en micropenis bij mannen. In het tweede of derde levensdecennium kan cataract optreden."},"pt":{"name":"Síndrome MORM"},"pl":{"name":"Zespół MORM","synonyms":["Niepełnosprawność intelektualna - otyłość - dystrofia siatkówki - mikropenis"]},"cs":{"name":"MORM syndrom","synonyms":["Syndrom zahrnující mentální retardaci, trunkální obezitu, retinální dystrofii a mikropenis"]},"uk":{"name":"МОРМ-синдром","synonyms":["Синдром інтелектуальної недостатності-трункулярного ожиріння-дистрофії сітківки- мікропеніса"],"definition":"A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life."},"zh":{"name":"MORM综合征","synonyms":["智力障碍-躯干型肥胖-视网膜营养不良-小阴茎综合征"]},"tr":{"name":"MORM sendromu","synonyms":["Zihinsel yetersizlik-trunkal obezite-retina distrofi-mikropenis sendromu"]}},"xrefs":[{"source":"OMIM","code":"610156","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1027545274"},{"source":"MONDO","code":"0012423","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536984","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857802","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10121","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":156165,"name":"Retinal ciliopathy","classifications":[156]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[{"symbol":"INPP5E","name":"inositol polyphosphate-5-phosphatase E","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19668215[PMID]","hgnc":"21474","ensembl":"ENSG00000148384","omim":"613037","loci":["9q34.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-22","source":"31173343[PMID]_16493448[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001956","label":"Truncal obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","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:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007675","label":"Progressive night blindness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001105","label":"Retinal atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Excluded (0%)","criteria":null}]}}