{"orpha":2274,"name":"Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Dykes-Marks-Harper syndrome"],"definition":"A rare genetic neurologic syndrome characterized by the triad of ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia that presents with progressive dysarthria, unsteadiness of gait. Ichthyosis usually manifests with marked hyperkeratosis, affecting the hands, arms and legs, primarily on the extensor surfaces of the limbs. The severity of ataxia and disability of limb movements are variable. Upward vertical gaze palsy, sluggish reflexes and impaired memory may also be present. There have been no further descriptions in the literature since 1979.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2274/","orphanet_url":"https://www.orpha.net/en/disease/detail/2274","names":{"fr":{"name":"Syndrome d'ichtyose-hépatosplénomégalie-dégénérescence cérébelleuse","synonyms":["Syndrome de Dykes-Marks-Harper"],"definition":"Syndrome neurologique génétique rare caractérisé par la triade associant ichtyose, hépatosplénomégalie et ataxie cérébelleuse d'apparition tardive qui se manifeste par une dysarthrie progressive et une démarche instable. L'ichtyose se manifeste généralement par une hyperkératose marquée, affectant les mains, les bras et les jambes, principalement les surfaces d'extension des membres. La gravité de l'ataxie et le degré d'altération des mouvements des membres sont variables. Une paralysie du regard vertical ascendant, des réflexes ralentis et des troubles de la mémoire peuvent également être présents. Aucun nouveau cas n'a été décrit dans la littérature depuis 1979."},"de":{"name":"Ichthyose-Hepatosplenomegalie-zerebelläre Degeneration-Syndrom","synonyms":["Dykes-Markes-Harper-Syndrom"],"definition":"Ein seltenes neurologisches Syndrom, das durch die Trias Ichthyose, Hepatosplenomegalie und spät einsetzende zerebelläre Ataxie gekennzeichnet ist und sich durch progressive Dysarthrie und Gangunsicherheit auszeichnet. Die Ichthyose manifestiert sich in der Regel durch eine ausgeprägte Hyperkeratose an Händen, Armen und Beinen, vor allem an den Streckseiten der Gliedmaßen. Der Schweregrad der Ataxie sowie die Einschränkung der Bewegungen der Gliedmaßen sind unterschiedlich. Eine Lähmung des vertikalen Blicks nach oben, träge Reflexe und Gedächtnisstörungen können ebenfalls vorhanden sein. Seit 1979 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de ictiosis-hepatoesplenomegalia-degeneración cerebelosa","definition":"Es un síndrome neurológico de origen genético poco frecuente caracterizado por la tríada de ictiosis, hepatoesplenomegalia y ataxia cerebelosa de inicio tardío, que se presenta con disartria progresiva e inestabilidad de la marcha. La ictiosis suele manifestarse con hiperqueratosis marcada, que afecta a las manos, a los brazos y a las piernas, principalmente en las superficies extensoras de las extremidades. La gravedad de la ataxia y la discapacidad para mover las extremidades son variables. También puede asociar parálisis de la mirada vertical ascendente, reflejos lentos y afectación de la memoria. No se han descrito más casos en la literatura desde 1979."},"it":{"name":"Ittiosi - epatosplenomegalia - degenerazione cerebellare","synonyms":["Sindrome di Dykes-Markes-Harper"]},"nl":{"name":"Ichthyosis - hepatosplenomegalie - cerebellaire degeneratie-syndroom","synonyms":["Syndroom van Dykes-Markes-Harper"],"definition":"Een zeldzaam genetisch neurologisch syndroom, gekenmerkt door de triade van ichthyosis, hepatosplenomegalie en laat optredende cerebellaire ataxie die zich manifesteert met progressieve dysartrie en onstabiele gang. Ichthyosis manifesteert zich meestal met opmerkelijke hyperkeratose van handen, armen en benen, vooral op oppervlakken aan de strekzijde van de ledematen. De ernst van ataxie en gebrekkige bewegingen van ledematen is variabel. Verticale blikparese naar boven, trage reflexen en geheugenstoornis kunnen ook aanwezig zijn. Sinds 1979 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de ictiose-hepatoesplenomegalia-degenerescência cerebelosa","synonyms":["Síndrome Dykes-Markes-Harper"]},"pl":{"name":"Rybia łuska - powiększenie wątroby i śledziony - zwyrodnienie móżdżku","synonyms":["Zespół Dykesa, Markesa i Harpera"]},"cs":{"name":"Syndrom zahrnující ichtyózu, hepatosplenomegalii a cerebelární degeneraci","synonyms":["Dykesův-Markesův-Harperův syndrom","Dykes-Markes-Harperův syndrom"]},"uk":{"name":"Синдром іхтіозу-гепатоспленомегалії-мозочкової дегенерації","synonyms":["Синдром Дайкса-Маркса-Харпера"],"definition":"Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked."},"zh":{"name":"鱼鳞病-肝脾肿大-小脑退化综合征","synonyms":["Dykes-Marks-Harper综合征"]},"tr":{"name":"İktiyoz-hepatosplenomegali-serebellar dejenerasyon sendromu","synonyms":["Dykes-Marks-Harper sendromu"]}},"xrefs":[{"source":"OMIM","code":"242520","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009445","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535727","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1275088","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1993","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":281244,"name":"Autosomal ichthyosis syndrome with other associated signs","classifications":[156,187]},{"orpha":183518,"name":"Hereditary ataxia","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"444432[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_444432[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-08","source":null,"terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null}]}}