{"orpha":3151,"name":"Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3151/","orphanet_url":"https://www.orpha.net/en/disease/detail/3151","names":{"fr":{"name":"Syndrome de sclérose en plaques-ichtyose-déficit en facteur VIII","definition":"Syndrome caractérisé par une sclérose en plaques associée à une ichtyose lamellaire et des troubles hématologiques : bêta-thalassémie mineure et déficit quantitatif du complexe facteur VIII-von Willebrand). Sur le plan clinique, les autres signes peuvent inclure une atteinte oculaire (atrophie optique, diplopie), une atteinte neuromusculaire (ataxie, syndrome pyramidal, troubles de la marche) et des troubles sensoriels. Aucun nouveau cas n'a été décrit dans la littérature depuis 1992."},"de":{"name":"Multiple Sklerose-Ichthyose-Faktor-VIII-Mangel-Syndrom","definition":"Das multiple Sklerose-Ichthyose-Faktor-VIII-Mangel-Syndrom ist gekennzeichnet durch die Assoziation von multipler Sklerose mit lamellarer Ichthyose (s. dort) und hämatologischen Anomalien (Beta-Thalassämie minor und quantitativem Defizit des Faktor VIII-von-Willebrand-Komplexes). Andere klinische Manifestationen können Augenbeteiligung (Optikusatrophie, Diplopie), neuromuskuläre Beteiligung (Ataxie, Pyramidenbahnsyndrom, Gangstörung) und sensorische Störungen umfassen. In der Literatur gibt es seit 1992 keine weiteren Beschreibungen"},"es":{"name":"Síndrome de esclerosis múltiple-ictiosis-deficiencia del factor VIII","definition":"Es un síndrome caracterizado por la asociación de esclerosis múltiple con ictiosis lamelar y anomalías hematológicas (beta talasemia menor y un déficit cuantitativo del complejo factor VIII - factor von Willebrand). Otros hallazgos clínicos posibles incluyen la afectación ocular (atrofia óptica, diplopía), la afectación neuromuscular (ataxia, síndrome piramidal, trastorno de la marcha) y el trastorno sensitivo. No se han descrito más casos en la literatura desde 1992."},"it":{"name":"Sclerosi multipla - ittiosi - deficit del fattore VIII","definition":"La sindrome sclerosi multipla-ittiosi-deficit del fattore VIII è caratterizzata dall'associazione tra sclerosi multipla, ittiosi lamellare (si veda questo termine) e anomalie ematologiche (beta talassemia minore e deficit quantitativo del fattore VIII-complesso di von Willebrand). Altri segni clinici si riscontrano a livello oculare (atrofia ottica, diplopia), neuromuscolare (atassia, sindrome piramidale, disturbi della deambulazione) e sensoriale. Gli ultimi casi descritti risalgono al 1992."},"nl":{"name":"Multipele sclerose - ichthyosis - factor VIII-deficiëntie-syndroom","definition":"Multipele sclerose - ichthyosis - factor VIII-deficiëntie-syndroom wordt gekarakteriseerd door de associatie van multipele sclerose met lamellaire ichthyosis (zie deze term) en hematologische anomalieën (bèta-thalassemie minor en een kwantitatief deficit van factor VIII-von Willebrand-complex). Andere mogelijke klinische manifestaties zijn onder meer betrokkenheid van het oog (opticusatrofie, diplopie), neuromusculaire betrokkenheid (ataxie, piramidaal syndroom, gangstoornissen) en zintuiglijke stoornissen. Sinds 1992 zijn er geen bijkomende beschrijvingen te vinden in de literatuur."},"pt":{"name":"Síndrome de esclerose múltipla-ictiose-deficiência de fator 8"},"pl":{"name":"Stwardnienie rozsiane - rybia łuska - Niedobór czynnika VIII"},"cs":{"name":"Syndrom zahrnující roztroušenou sklerózu, ichtyózu a deficit faktoru VIII"},"uk":{"name":"Синдром розсіяного склерозу-іхтіозу - дефіциту фактора VIII","definition":"Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis (see this term) and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992."},"zh":{"name":"多发性硬化-鱼鳞病-VIII因子缺乏综合征"},"tr":{"name":"Çoklu skleroz-iktiyoz-faktör VIII eksikliği sendromu"}},"xrefs":[{"source":"ICD-10","code":"G37.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A4Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017837","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518551","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":281244,"name":"Autosomal ichthyosis syndrome with other associated signs","classifications":[156,187]},{"orpha":68334,"name":"Rare hemorrhagic disorder due to a constitutional coagulation factors defect","classifications":[156,194]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8336172[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8336172[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001881","label":"Abnormal leukocyte morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100654","label":"Retrobulbar optic neuritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Frequent (79-30%)","criteria":null}]}}