{"orpha":1125,"name":"Ocular motor apraxia, Cogan type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Oculomotor apraxia, Cogan type"],"definition":"Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the <i>NPHP1</i> gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1125/","orphanet_url":"https://www.orpha.net/en/disease/detail/1125","names":{"fr":{"name":"Apraxie oculomotrice type Cogan","definition":"L'apraxie oculomotrice type Cogan (AOMC) est un syndrome qui se caractérise par une anomalie de l'initiation des saccades volontaires horizontales des yeux. Une cinquantaine de cas ont été décrits. Les manifestations cliniques s'atténuent généralement avec l'âge. L'AOMC peut être associée à un retard des acquisitions ou des troubles de l'élocution ou parfois à des malformations cérébrales. Les formes sporadiques sont plus fréquentes que les formes héréditaires. Un gène situé sur le bras long du chromosome 2, à proximité du gène <i>NPHP1</i> impliqué dans la néphronophtise, serait lié à l'AOMC. Dans les formes familiales, le mode de transmission n'a pas encore été clairement établi."},"de":{"name":"Apraxie, okulomotorische, Typ Cogan","definition":"Der Typ Cogan der kongenitalen okulo-motorischen Apraxie (COMA) ist gekennzeichnet durch gestörte willkürliche horizontale Augenbewegung mit ruckartigen, kompensatorischen Kopfbewegungen."},"es":{"name":"Apraxia ocular tipo Cogan","definition":"La apraxia ocular motora congénita (AOMC) tipo Cogan está caracterizada por un deterioro de los movimientos horizontales voluntarios de los ojos, con giros bruscos de la cabeza como mecanismo compensatorio. Hasta la fecha se han descrito unos 50 casos. Las manifestaciones oculomotoras suelen mejorar con la edad aunque el síndrome puede asociarse también con trastornos del aprendizaje y del desarrollo del habla, o, en algunos casos, con malformaciones cerebrales. Se han descrito tanto formas esporádicas como familiares, siendo más frecuentes los casos esporádicos. El modo de herencia de la forma familiar aún no ha sido dilucidado. Es posible que haya una asociación de la AOMC tipo Cogan con un gen situado en el brazo largo del cromosoma 2, cerca del gen <i>NPHP1</i> , implicado en la nefronoftisis."},"it":{"name":"Aprassia oculomotoria, tipo Cogan"},"nl":{"name":"Oculomotorische apraxie, Cogan-type","definition":"Oculomotorische apraxie, Cogan-type, wordt gekenmerkt door verstoorde vrijwillige horizontale oogbewegingen en schokkende hoofdbewegingen ter compensatie. Tot op heden werden ongeveer 50 gevallen beschreven. Oculomotorische manifestaties verbeteren met het ouder worden, maar het syndroom kan ook geassocieerd zijn met leer- en spraakproblemen, of in sommige gevallen met hersenmalformaties. Er werden zowel sporadische als familiale vormen beschreven, waarvan deze eerste vaker voorkomen. De manier van transmissie van de familiale vorm werd nog niet duidelijk vastgesteld. Een gen gelokaliseerd op de lange arm van chromosoom 2, nabij het gen <i>NPHP1</i> dat een rol speelt in nefronoftisis, is mogelijk geassocieerd met oculaire motorische apraxie, Cogan-type."},"pt":{"name":"Apraxia ocular motora, tipo Cogan"},"pl":{"name":"Apraksja gałkooruchowa typu Cogana","synonyms":["Oculomotor apraxia, Cogan type"]},"cs":{"name":"Okulomotorická apraxie, Coganův typ","synonyms":["Oculomotor apraxia, Cogan type"]},"uk":{"name":"Окорухова апраксія, тип Когана","synonyms":["Окорухова апраксія, тип Когана"],"definition":"Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the <i>NPHP1</i> gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type."},"zh":{"name":"眼运动失用症Cogan型","synonyms":["眼运动失用症，Cogan型"]},"tr":{"name":"Oküler motor apraksi, Cogan tipi","synonyms":["Okülomotor apraksi, Cogan tipi"]}},"xrefs":[{"source":"OMIM","code":"257550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H51.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"9C82.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"534499168"},{"source":"MONDO","code":"0009764","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537423","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0543874","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"16","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98688,"name":"Oculomotor apraxia","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2025-01-21","source":"37131188[PMID]_27473762[PMID]_30782493[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006817","label":"Aplasia/Hypoplasia of the cerebellar vermis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001151","label":"Impaired horizontal smooth pursuit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006961","label":"Jerky head movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002419","label":"Molar tooth sign on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}