{"orpha":454718,"name":"Holmes-Adie syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Adie syndrome","Tonic pupil-tendon areflexia syndrome"],"definition":"A rare ophthalmic disorder characterized by the unilateral or bilateral occurrence of a tonic pupil (showing sectorial denervation of the sphincter pupillae, so that the pupil constricts poorly to light, while the response to near is present but abnormally prolonged), in association with the absence of deep tendon reflexes. In some patients, patchy hypo- or anhidrosis may also be present (a variant known as Ross syndrome). The condition typically occurs in young adults, with a female preponderance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-454718/","orphanet_url":"https://www.orpha.net/en/disease/detail/454718","names":{"fr":{"name":"Syndrome de Holmes-Adie","synonyms":["Pupille tonique d'Adie"],"definition":"Maladie ophtalmique rare caractérisée par l'apparition unilatérale ou bilatérale d'une pupille tonique (se manifestant par une dénervation du segment du sphincter pupillaire, une faible réaction de la pupille à la lumière et une lenteur de la contraction au près), en association avec une perte de réflexes tendineux profonds. Chez certains patients, on observe également une hypoidrose ou une anhidrose inconstante (une variante étant le syndrome de Ross). Cette maladie se manifeste généralement chez les jeunes adultes, avec une prépondérance féminine."},"de":{"name":"Holmes-Adie-Syndrom","synonyms":["Adie-Syndrom","Tonische Pupille-Sehnenareflexie-Syndrom"],"definition":"Eine seltene Augenerkrankung, die durch eine ein- oder beidseitige tonische Pupille (mit sektorieller Denervierung des Pupillenschließmuskels, so dass sich die Pupille bei Licht nur geringfügig verengt, während die Nahreaktion vorhanden, aber abnorm verlängert ist) in Verbindung mit einem Fehlen der tiefen Sehnenreflexe gekennzeichnet ist. Bei einigen Patienten kann auch eine fleckförmige Hypo- oder Anhidrose auftreten (eine Variante, die als Ross-Syndrom bekannt ist). Die Erkrankung tritt typischerweise bei jungen Erwachsenen auf, wobei Frauen überwiegen."},"es":{"name":"Síndrome de Holmes-Adie","synonyms":["Síndrome de Adie","Síndrome de pupila tónica-arreflexia del tendón"],"definition":"Es un trastorno oftálmico poco frecuente caracterizado por la ocurrencia uni- o bilateral de una pupila tónica (que muestra denervación sectorial del esfínter pupilar, de modo que la pupila se contrae poco al estar expuesta a la luz, mientras que la respuesta de cercanía está presente pero de forma anormalmente prolongada), en asociación con la ausencia de reflejos tendinosos profundos. En algunos pacientes, también puede haber hipo- o anhidrosis parcheada (una variante conocida como síndrome de Ross). La afección suele presentarse en adultos jóvenes, con predominio femenino."},"it":{"name":"Sindrome di Holmes-Adie","synonyms":["Sindrome di Adie"],"definition":"Si tratta di una malattia oculare rara, caratterizzata da pupilla tonica mono- o bilaterale (che presenta una denervazione settoriale dello sfintere della pupilla, associata ad una ridotta reazione alla luce, mentre il riflesso pupillare per vicino è presente ma prolungato in modo anomalo), in assenza dei riflessi tendinei profondi. Alcuni pazienti presentano anche ipo- o anidrosi a chiazze (una variante nota come sindrome di Ross). Di solito la malattia colpisce i giovani adulti, con una predilezione per le femmine."},"nl":{"name":"Syndroom van Holmes-Adie","synonyms":["Holmes-Adiesyndroom","Syndroom van Adie","Tonische pupil - peesareflexie-syndroom"],"definition":"Een zeldzame aandoening van oog, gekarakteriseerd door unilateraal of bilateraal voorkomen van tonische pupil (met sectoriële denervatie van musculus sphincter pupillae (kringspier van pupil), zodat de pupil maar weinig vernauwt als reactie op licht, terwijl de pupilreactie bij fixatie op nabij object aanwezig is maar abnormaal lang duurt), in associatie met afwezigheid van diepe peesreflexen. Bij sommige patiënten kan ook focale hypo- of anhidrose aanwezig zijn (een variant gekend als syndroom van Ross). De aandoening komt doorgaans voor bij jonge volwassenen, met een vrouwelijk overwicht."},"pt":{"name":"Síndrome de Holmes -Adie"},"pl":{"name":"Zespół Holmesa i Adiego","synonyms":["Zespół Adiego","Zespół źrenicy tonicznej i braku odruchów ścięgnistych"]},"cs":{"name":"Holmsův-Adieho syndrom","synonyms":["Adieho syndrom","Holms-Adieho syndrom"]},"uk":{"name":"Синдром Холмса-Аді","synonyms":["Синдром Аді","Синдром тонічної зінично-сухожильної арефлексії"],"definition":"A rare ophthalmic disorder characterized by the unilateral or bilateral occurrence of a tonic pupil (showing sectorial denervation of the sphincter pupillae, so that the pupil constricts poorly to light, while the response to near is present but abnormally prolonged), in association with the absence of deep tendon reflexes. In some patients, patchy hypo- or anhidrosis may also be present (a variant known as Ross syndrome). The condition typically occurs in young adults, with a female preponderance."},"zh":{"name":"福尔摩斯·阿迪综合症","synonyms":["强直性瞳孔-腱反射消失综合征"],"definition":"一种罕见的眼科疾病，其特征是单眼或双眼出现强直性瞳孔（表现出部分瞳孔括约肌的去神经支配，因此瞳孔对光的反应较差，对近距离物体的反应存在但异常延长），并伴有深腱反射消失。在某些患者中，也可能出现斑块状的低汗症或无汗症（一种称为罗斯综合征的变体）。该病通常发生在以女性为主的年轻成年人中。"},"tr":{"name":"Holmes-Adie sendromu","synonyms":["Adie sendromu","Tonik pupil-tendon arefleksi sendromu"]}},"xrefs":[{"source":"OMIM","code":"103100","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H57.0","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"9B01.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"626270657"},{"source":"MONDO","code":"0018690","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000270","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0001519","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5749","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10020352","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519286,"name":"Rare disorder of the pupil","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":4.7,"area":"United States","status":"Validated","source":"613531[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-09-26","source":"30285366[PMID]_33595525[PMID]","terms":[{"hpo":"HP:0012074","label":"Tonic pupil","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007695","label":"Abnormal pupillary light reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009916","label":"Anisocoria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011499","label":"Mydriasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012803","label":"Anisometropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034315","label":"Chronic cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001278","label":"Orthostatic hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null}]}}