{"orpha":85279,"name":"KDM5C-related syndromic X-linked intellectual disability","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Claes-Jensen syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech, and behavioral problems.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85279/","orphanet_url":"https://www.orpha.net/en/disease/detail/85279","names":{"fr":{"name":"Déficience intellectuelle liée à l'X syndromique associée à KDM5C","synonyms":["Syndrome de Claes-Jensen"],"definition":"Déficience intellectuelle liée à l'X syndromique par mutation de JARID1C est caractérisé par un déficit intellectuel léger à sévère, associé à des manifestations cliniques variables, incluant spasticité, cryptorchidie, hypoplasie maxillaire, alopécie aerata, épilepsie, petite taille, et troubles du langage et du comportement. A ce jour, il a été décrit dans moins de 15 familles. Il se transmet sur le mode récessif lié à l'X et est dû à des mutations du gène <i>JARID1C</i> (<i> SMCX</i>), codant pour une protéine à domaine JmjC avec activité histone déméthylase."},"de":{"name":"Intelligenzminderung, X-chromosomale, syndromale, KDM5C-assoziierte","synonyms":["Claes-Jensen-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien/Dysmorphien, das durch ein leichte bis schwere Intelligenzminderung in Verbindung mit unterschiedlichen klinischen Manifestationen wie Spastik, Kryptorchismus, Oberkieferhypoplasie, Alopecia areata, Epilepsie, Kleinwuchs, Sprachstörungen und Verhaltensproblemen gekennzeichnet ist."},"es":{"name":"Discapacidad intelectual sindrómica ligada al cromosoma X asociada a KDM5C","synonyms":["Síndrome de Claes-Jensen"],"definition":"Es un síndrome dismórfico/ de anomalías congénitas múltiples caracterizado por un déficit intelectual de leve a grave asociado a manifestaciones clínicas variables que incluyen espasticidad, criptorquidia, hipoplasia maxilar, alopecia areata, epilepsia, talla baja, afectación del habla y trastornos de conducta."},"it":{"name":"Disabilità intellettiva sindromica legata all'X correlata a KDM5C","synonyms":["Sindrome di Claes-Jensen"]},"nl":{"name":"KDM5C-gerelateerde syndromale X-gebonden intellectuele achterstand","synonyms":["Syndroom van Claes-Jensen"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door milde tot ernstige intellectuele achterstand, geassocieerd met variabele klinische manifestaties, waaronder spasticiteit, cryptorchisme, hypoplasie van maxilla, alopecia areata, epilepsie, kleine gestalte, spraakstoornis, en gedragsproblemen."},"pt":{"name":"Perturbação do desenvolvimento intelectual sindromática ligada ao X KDM5C-relacionada"},"pl":{"name":"Syndromiczna niepełnosprawność intelektualna sprzężona z chromosomem X z powodu mutacji JARID1C","synonyms":["Syndromiczna niepełnosprawność intelektualna sprzężona z chromosomem X związana z mutacjami z genie KDM5C"]},"cs":{"name":"Syndromická X-vázaná mentální retardace související s KDM5C","synonyms":["Syndromická mentální retardace způsobená mutací JARID1C"]},"uk":{"name":"Синдромна Х-зчеплена інтелектуальна недостатність, повязана з KDM5C","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech, and behavioral problems."},"zh":{"name":"JARID1C突变所致综合征性X连锁智力残疾"},"tr":{"name":"JARID1C mutasyonuna bağlı sendromik X'e bağlı zihinsel yetersizlik"}},"xrefs":[{"source":"OMIM","code":"300534","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010355","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681493","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"KDM5C","name":"lysine demethylase 5C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15586325[PMID]","hgnc":"11114","ensembl":"ENSG00000126012","omim":"314690","loci":["Xp11.22"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","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":"21575681[PMID]_19826449[PMID]","terms":[{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002232","label":"Patchy alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null}]}}