{"orpha":505652,"name":"CDKL5-deficiency disorder","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDD"],"definition":"A rare genetic neurodevelopmental disorder characterized by early-onset drug-resistant seizures and severe neurodevelopmental impairment with major motor development delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-505652/","orphanet_url":"https://www.orpha.net/en/disease/detail/505652","names":{"fr":{"name":"Trouble du déficit en CDKL5","synonyms":["CDD","Syndrome CDKL5","Trouble CDKL5"],"definition":"Maladie neurodeveloppementale rare d'origine génétique caractérisée par des crises épileptiques pharmacorésistantes d'apparition précoce, une importante atteinte neurodéveloppementale et un retard sévère du développement moteur."},"de":{"name":"CDKL5-Mangel-Syndrom","synonyms":["CDD","CDKL5-Gen-Defekt","CDKL5-Krankheit"],"definition":"Eine seltene genetisch bedingte neurologische Entwicklungsstörung, die durch früh einsetzende arzneimittelresistente Anfälle und schwere neurologische Entwicklungsstörungen mit erheblicher Verzögerung der motorischen Entwicklung gekennzeichnet ist."},"es":{"name":"Trastorno de deficiencia de CDKL5","definition":"Es un trastorno del neurodesarrollo, de origen genético y poco frecuente, caracterizado por crisis epilépticas fármacorresistentes de inicio temprano y afectación grave del neurodesarrollo con un importante retraso motor."},"it":{"name":"Malattia da deficit di CDKL5","synonyms":["CDD"],"definition":"Si tratta di una malattia genetica rara dello sviluppo neurologico, caratterizzata da crisi epilettiche ad esordio precoce resistenti ai farmaci e da gravi anomalie dello sviluppo neurologico, con marcato ritardo dello sviluppo motorio."},"nl":{"name":"CDKL5-deficiëntiestoornis","synonyms":["CDD"],"definition":"Een zeldzame, genetische neurologische ontwikkelingsstoornis, gekarakteriseerd door vroeg aanvangende medicatieresistente insulten en ernstige stoornis van neurologische ontwikkeling met grote motorische ontwikkelingsachterstand."},"pt":{"name":"Doença devido a deficiência CDKL5"},"pl":{"name":"Encefalopatia padaczkowa związana z CDKL5","synonyms":["Zaburzenie z niedoboru CDKL5"]},"cs":{"name":"CDKL5-vázaná epileptická encefalopatie","synonyms":["Deficit CDKL5","Poruchy způsobené mutací CDKL5","Porucha způsobená deficitem CDKL5"]},"uk":{"name":"Дефіцит CDKL5","synonyms":["CDD"],"definition":"A rare genetic neurodevelopmental disorder characterized by early-onset drug-resistant seizures and severe neurodevelopmental impairment with major motor development delay."},"zh":{"name":"CDKL5基因相关的癫痫脑病","synonyms":["CDKL5基因缺陷性疾病"],"definition":"是一种罕见的遗传性神经发育障碍，其特点是早发性耐药性癫痫发作和严重的神经发育障碍，并以运动发育迟缓为主。"},"tr":{"name":"CDKL5-ilişkili epileptik ensefalopati","synonyms":["CDKL5 eksikliği bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"300672","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010396","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564064","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750718","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12173","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083005","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":306765,"name":"Motor stereotypies","classifications":[156,181]},{"orpha":693802,"name":"Neonatal/infantile-onset epilepsy syndrome","classifications":[156,181]},{"orpha":168778,"name":"Rare pervasive developmental disorder","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CDKL5","name":"cyclin dependent kinase like 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22872100[PMID]","hgnc":"11411","ensembl":"ENSG00000008086","omim":"300203","loci":["Xp22.13"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"EpiCARE[EXPERT]_31302675[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.21,"area":"Australia","status":"Validated","source":"29264392[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.36,"area":"United Kingdom","status":"Validated","source":"31302675[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22872100[PMID]_24564546[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-06-06","source":"35483386[PMID]_38603524[PMID]_33989939[PMID]_22872100[PMID]_27081548[PMID]","terms":[{"hpo":"HP:0010818","label":"Generalized tonic seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003808","label":"Abnormal muscle tone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009852","label":"Broad proximal phalanges of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003763","label":"Bruxism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033850","label":"Coldness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010841","label":"Multifocal epileptiform discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032794","label":"Myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000817","label":"Reduced eye contact","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006979","label":"Sleep-wake cycle disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012171","label":"Stereotypical hand wringing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:5200061","label":"Tactile hypersensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002883","label":"Hyperventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000749","label":"Paroxysmal bursts of laughter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002783","label":"Recurrent lower respiratory tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null}]}}