{"orpha":2148,"name":"Lissencephaly type 1 due to doublecortin gene mutation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked lissencephaly type 1"],"definition":"Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2148/","orphanet_url":"https://www.orpha.net/en/disease/detail/2148","names":{"fr":{"name":"Lissencéphalie type 1 due aux anomalies du gène double-cortine","synonyms":["Lissencéphalie type 1 liée à l'X"],"definition":"La lissencéphalie de type 1 liée à l'X (XLIS) est une maladie semi dominante liée au chromosome X caractérisée par une déficience intellectuelle et une épilepsie de plus grande sévérité chez les hommes."},"de":{"name":"Lissenzephalie Typ 1 mit Doublecortin (DCX)-Genmutation","synonyms":["Lissenzephalie Typ 1, X-chromosomale"],"definition":"Die Typ 1-Lissenzephalie mit Mutationen im Doublecortin (<i>DCX</i>)-Gen ist eine X-chromosomal-semidominante Erkrankung mit im männlichen Geschlecht schwerer ausgeprägter Intelligenzminderung und Krampfneigung."},"es":{"name":"Lisencefalia tipo 1 por una mutación en el gen de la doblecortina","synonyms":["Lisencefalia tipo 1 ligada al cromosoma X"],"definition":"Es una enfermedad semidominante ligada al cromosoma X caracterizada por deficiencia intelectual y crisis epilépticas que revisten mayor gravedad en los pacientes de sexo masculino."},"it":{"name":"Lissencefalia, tipo 1, da mutazione del gene doublecortin","synonyms":["Lissencefalia tipo 1, legata all'X"]},"nl":{"name":"Lissencefalie type 1 door doublecortin-genmutatie","synonyms":["X-gebonden lissencefalie type 1"],"definition":"Type 1 lissencefalie door mutaties in het gen voor doublecortin (<i>DCX</i>) is een semidominante X-gebonden aandoening, gekenmerkt door intellectuele achterstand en insulten die ernstiger zijn bij mannelijke patiënten."},"pt":{"name":"Lisencefalia tipo 1 por mutação no gene da doublecortina","synonyms":["Lisencefalia tipo 1 ligada ao X"]},"pl":{"name":"Lizencefalia typu 1 spowodowana mutacją genu doublecortin","synonyms":["Lizencefalia typu 1 sprzężona z chromosomem X"]},"cs":{"name":"Lisencefalie, typ 1, způsobená mutací genu pro doublekortin","synonyms":["X-vázaná lisencefalie, typ 1"]},"uk":{"name":"Лісенцефалія типу 1 внаслідок мутації гена даблкортину","synonyms":["Х-зчеплена ліссенцефалія, тип 1"],"definition":"Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients."},"zh":{"name":"双皮质素基因突变所致无脑回畸形I型","synonyms":["X-连锁遗传无脑回畸形1型"]},"tr":{"name":"Çift kortin gen mutasyonuna bağlı lizensefali tip 1","synonyms":["X'e bağlı lizensefali tip 1"]}},"xrefs":[{"source":"OMIM","code":"300067","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"891064255"},{"source":"MONDO","code":"0010239","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275012","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6914","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":102009,"name":"Classic lissencephaly","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"DCX","name":"doublecortin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301364[PMID]","hgnc":"2714","ensembl":"ENSG00000077279","omim":"300121","loci":["Xq23"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adolescent","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-05-28","source":"20301364[PMID]_28440899[PMID]","terms":[{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003808","label":"Abnormal muscle tone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031882","label":"Agyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012672","label":"Akinetic mutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007015","label":"Poor gross motor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002339","label":"Abnormal caudate nucleus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002835","label":"Aspiration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012762","label":"Cerebral white matter atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012520","label":"Dilation of Virchow-Robin spaces","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200134","label":"Epileptic encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Occasional (29-5%)","criteria":null}]}}