{"orpha":1873,"name":"Jalili syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cone rod dystrophy-amelogenesis imperfecta syndrome"],"definition":"Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1873/","orphanet_url":"https://www.orpha.net/en/disease/detail/1873","names":{"fr":{"name":"Syndrome de Jalili","synonyms":["Syndrome de dystrophie des cônes et des bâtonnets-amélogenèse imparfaite"],"definition":"Syndrome de Jalili associe une amélogenèse imparfaite (AI) et une dystrophie des cônes et des bâtonnets (DCB)."},"de":{"name":"Jalili-Syndrom","synonyms":["Zapfen-Stäbchen-Dystrophie - Amelogenesis imperfecta"],"definition":"Das Jalili-Syndrom ist gekennzeichnet durch gemeinsames Auftreten von Amelogenesis imperfecta (AI) und Zäpfchen-Stäbchen-Netzhautdystrophie (CORD)."},"es":{"name":"Síndrome de Jalili","synonyms":["Distrofia de conos y bastones-amelogénesis imperfecta"],"definition":"El síndrome de Jalili se caracteriza por la asociación de amelogénesis imperfecta (AI; ver este término) y distrofia de conos y bastones (CRDs; ver este término)."},"it":{"name":"Sindrome di Jalili","synonyms":["Distrofia dei coni e dei bastoncelli - amelogenesi imperfetta"]},"nl":{"name":"Syndroom van Jalili","synonyms":["Kegel-staafdystrofie - amelogenesis imperfecta-syndroom"],"definition":"Syndroom van Jalili wordt gekenmerkt door de associatie van amelogenesis imperfecta (AI) en kegel-staaf-retinadystrofie (CORD)."},"pt":{"name":"Síndrome Jalili","synonyms":["Distrofia dos cones e bastonetes-amelogénese imperfeita"],"definition":"A síndrome de Jalili é caracterizada pela associação de amelogénese imperfeita (AI) e distrofia retiniana de cones e bastonetes (CORD)."},"pl":{"name":"Zespół Jalili","synonyms":["Dystrofia czopków i pręcików - amelogenesis imperfecta"]},"cs":{"name":"Jaliliho syndrom","synonyms":["Syndrom zahrnující dystrofii čípků a tyčinek a amelogenesis imperfecta"]},"uk":{"name":"Синдром Джалілі","synonyms":["Синдром недосконалого амелогенезу колбочкової дистрофії"],"definition":"Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term)."},"zh":{"name":"Jalili综合征","synonyms":["锥杆营养不良性-釉质发育不全综合征"]},"tr":{"name":"Jalili sendromu","synonyms":["Koni çubuk distrofisi-amelogenezis imperfekta sendromu"]}},"xrefs":[{"source":"OMIM","code":"217080","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA30.6","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"389476366"},{"source":"MONDO","code":"0009007","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C000596385","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3495589","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1463","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"CNNM4","name":"cyclin and CBS domain divalent metal cation transport mediator 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19200525[PMID]_24194943[PMID]","hgnc":"105","ensembl":"ENSG00000158158","omim":"607805","loci":["2q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.3,"area":"Palestinian Territory, occupied","status":"Validated","source":"20706282[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":49.0,"area":"Worldwide","status":"Validated","source":"23362848[PMID]_20706282[PMID]_21728811[PMID]_[EXPERT]"},{"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":null,"terms":[{"hpo":"HP:0011073","label":"Abnormality of dental color","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000705","label":"Amelogenesis imperfecta","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null}]}}