{"orpha":85163,"name":"Hypomyelination-congenital cataract syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare developmental defect during embryogenesis characterized by congenital or early onset cataracts (usually bilateral), developmental delay, progressive neurologic symptoms (including ataxia, spasticity and sometimes seizures) and mild-to-moderate cognitive impairment. Other major clinical features include truncal hypotonia, dysarthia, cerebellar signs (e.g: truncal titubation and intention tremor) and peripheral neuropathy (e.g: progressive weakness of the muscles in the lower limbs). Hypomyelination associated with periventricular white matter abnormalities is observed. Some patients may have mild lens opacity and cataracts could be absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85163/","orphanet_url":"https://www.orpha.net/en/disease/detail/85163","names":{"fr":{"name":"Syndrome d'hypomyélinisation-cataracte congénitale","definition":"Anomalie rare du développement embryonnaire caractérisée par une cataracte congénitale ou précoce (généralement bilatérale), un retard de développement, des symptômes neurologiques progressifs (ataxie, spasticité et parfois crises d'épilepsie) et des troubles cognitifs légers à modérés. Les autres manifestations cliniques majeures sont une hypotonie tronculaire, une dysarthrie, des signes cérébelleux (titubation du tronc et tremblements intentionnels) et une neuropathie périphérique (faiblesse progressive des muscles des membres inférieurs). Une hypomyélinisation associée à des anomalies périventriculaires de la substance blanche est également observée. Certains patients peuvent présenter une légère opacité du cristallin et une absence de cataracte."},"de":{"name":"Hypomyelinisierung-kongenitale Katarakt-Syndrom","definition":"Eine seltene Entwicklungsstörung während der Embryogenese, die durch angeborene oder früh auftretende Katarakte (in der Regel beidseitig), Entwicklungsverzögerung, fortschreitende neurologische Symptome (einschließlich Ataxie, Spastik und manchmal Krampfanfälle) und leichte bis mittelschwere kognitive Beeinträchtigungen gekennzeichnet ist. Weitere wichtige klinische Merkmale sind Rumpfhypotonie, Dysarthrie, Kleinhirnsymptome (z. B. Rumpftremor und Intentionstremor) und periphere Neuropathie (z. B. fortschreitende Schwäche der Muskeln in den unteren Extremitäten). Es wird eine Hypomyelinisierung in Verbindung mit periventrikulären Anomalien der weißen Substanz beobachtet. Einige Patienten können eine leichte Linsentrübung aufweisen, und Katarakte können fehlen."},"es":{"name":"Síndrome de hipomielinización-catarata congénita","definition":"Es un defecto poco frecuente del desarrollo durante la embriogénesis caracterizado por cataratas congénitas o de aparición precoz (generalmente bilaterales), retraso del desarrollo, síntomas neurológicos progresivos (que incluyen ataxia, espasticidad y, en ocasiones, crisis epilépticas) y afectación cognitiva de leve a moderada. Otras características clínicas importantes incluyen hipotonía troncal, disartia, signos cerebelosos (como titubación troncal y temblor intencional) y neuropatía periférica (como debilidad progresiva de los músculos de las extremidades inferiores). También se observa hipomielinización asociada con anomalías de la sustancia blanca periventricular. Algunos pacientes pueden presentar leve opacidad del cristalino y podrían no padecer cataratas."},"it":{"name":"Ipomielinizzazione - cataratta congenita"},"nl":{"name":"Hypomyelinisatie - congenitaal cataract-syndroom","definition":"Een zeldzaam ontwikkelingsdefect tijdens embryogenese, gekenmerkt door congenitaal of vroeg optredend cataract (meestal bilateraal), ontwikkelingsachterstand, progressieve neurologische symptomen (waaronder ataxie, spasticiteit en soms insulten) en milde tot matige cognitieve functiestoornis. Overige belangrijke klinische kenmerken zijn hypotonie van romp, dysartrie, cerebellaire verschijnselen (bijvoorbeeld schudden van romp (titubatie) en intentietremor) en perifere neuropathie (bijvoorbeeld progressieve zwakte van spieren van onderste ledematen). Hypomyelinisatie geassocieerd met afwijkingen van periventriculaire witte stof wordt waargenomen. Sommige patiënten hebben mogelijk milde lenstroebeling en cataract kan afwezig zijn."},"pt":{"name":"Síndrome de hipomielinização-catarata congénita","definition":"Defeito raro de desenvolvimento durante a embriogénese caracterizado por cataratas congénitas ou de início precoce (geralmente bilaterais), atraso no desenvolvimento, sintomas neurológicos progressivos (incluindo ataxia, espasticidade e, às vezes, convulsões) e compromisso cognitivo leve a moderado. Outras características clínicas importantes incluem hipotonia troncular, disartria, sinais cerebelares (por exemplo: ataxia troncular e tremor intencional) e neuropatia periférica (por exemplo: fraqueza progressiva dos músculos dos membros inferiores). É observada hipomielinização associada a anormalidades da substância branca periventricular. Alguns doentes podem ter opacidade leve do cristalino e as cataratas podem estar ausentes."},"pl":{"name":"Hipomielinacja - zaćma wrodzona","definition":"Rzadka wada rozwojowa występująca w okresie embriogenezy, charakteryzująca się wrodzoną lub wcześnie pojawiającą się zaćmą (zwykle obustronną), opóźnieniem rozwoju, postępującymi objawami neurologicznymi (ataksja, spastyczność, czasami drgawki) oraz łagodnym lub umiarkowanego upośledzeniem funkcji poznawczych. Inne objawy kliniczne to osiowe obniżenie napięcia mięśniowego, dyzartria, objawy móżdżkowe (chwiejny chód, drżenie zamiarowe) oraz neuropatia obwodowa (postępujące osłabienie mięśni kończyn dolnych). Obserwuje się hipomielinizację związaną z nieprawidłowościami istoty białej okołokomorowej. U niektórych pacjentów może wystąpić łagodne zmętnienie soczewki, bez zaćmy."},"cs":{"name":"Syndrom zahrnující hypomyelinizaci a vrozenou kataraktu"},"uk":{"name":"Синдром гіпомієлінізації - вродженої катаракти","definition":"A rare developmental defect during embryogenesis characterized by congenital or early onset cataracts (usually bilateral), developmental delay, progressive neurologic symptoms (including ataxia, spasticity and sometimes seizures) and mild-to-moderate cognitive impairment. Other major clinical features include truncal hypotonia, dysarthia, cerebellar signs (e.g: truncal titubation and intention tremor) and peripheral neuropathy (e.g: progressive weakness of the muscles in the lower limbs). Hypomyelination associated with periventricular white matter abnormalities is observed. Some patients may have mild lens opacity and cataracts could be absent."},"zh":{"name":"髓鞘形成不足-先天性白内障综合征"},"tr":{"name":"Hipomiyelinizasyon-doğumsal katarakt sendromu"}},"xrefs":[{"source":"OMIM","code":"610532","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G37.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012514","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567166","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864663","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11980","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"HYCC1","name":"hyccin PI4KA lipid kinase complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301737[PMID]_16951682[PMID]","hgnc":"24587","ensembl":"ENSG00000122591","omim":"610531","loci":["7p15.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"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":"2016-06-01","source":"16951682[PMID]","terms":[{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006808","label":"Cerebral hypomyelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null}]}}