{"orpha":1454,"name":"Joubert syndrome with hepatic defect","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["COACH syndrome","Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis","Gentile syndrome","JS-H","Joubert syndrome with congenital hepatic fibrosis"],"definition":"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1454/","orphanet_url":"https://www.orpha.net/en/disease/detail/1454","names":{"fr":{"name":"Syndrome de Joubert avec atteinte hépatique","synonyms":["JS-H","Syndrome COACH","Syndrome d'hypoplasie du vermis cérébelleux-oligophrénie-ataxie congénitale-colobome-fibrose hépatique","Syndrome de Gentile"],"definition":"Le syndrome de Joubert avec atteinte hépatique est une forme très rare du groupe des maladies associées au syndrome de Joubert (SJMA) et se caractérise par l'association des signes neurologiques du SJ à une fibrose hépatique congénitale (FHC)."},"de":{"name":"Joubert-Syndrom mit hepatischem Defekt","synonyms":["COACH-Syndrom","Gentile-Syndrom","Hypo/Aplasie des Kleinhirnwurms - Oligophrenie - kongenitale Ataxie - Kolobom - Leberfibrose","JS-H","Joubert-Syndrom mit kongenitaler hepatischer Fibrose"],"definition":"Das Joubert-Syndrom mit hepatischem Defekt ist ein sehr seltener Subtyp des Joubert-Syndroms und verwandter Krankheiten (JSRDs; s. dort) und gekennzeichnet durch die neurologischen Symptome des JS in Verbindung mit kongenitaler Leberfibrose."},"es":{"name":"Síndrome de Joubert con defecto hepático","synonyms":["Hipoplasia del vermis cerebeloso-oligofrenia-ataxia congénita-coloboma-fibrosis hepática","JS-H","Síndrome COACH","Síndrome Gentile","Síndrome de Joubert con fibrosis hepática congénita"],"definition":"El síndrome de Joubert (SJ) con defecto hepático es un subtipo muy poco frecuente del síndrome de Joubert y trastornos relacionados (JSRD, consulte este término), y se caracteriza por los rasgos neurológicos del SJ asociados a una fibrosis hepática congénita (CHF)."},"it":{"name":"Sindrome di Joubert con difetto epatico","synonyms":["Ipoplasia del verme cerebellare - oligofrenia - atassia congenita - coloboma - fibrosi epatica","JS-H","Sindrome COACH","Sindrome di Gentile","Sindrome di Joubert con fibrosi epatica congenita"],"definition":"La sindrome di Joubert (JS) con difetto epatico è un sottogruppo molto raro della sindrome di Joubert e dei disturbi correlati (JSRD; si veda questo termine); è caratterizzato dai segni neurologici della JS associati alla fibrosi epatica congenita (CHF)."},"nl":{"name":"Syndroom van Joubert met hepatisch defect","synonyms":["COACH-syndroom","Cerebellaire vermishypoplasie - oligofrenie - congenitale ataxie - coloboom - leverfibrose","JS-H","Syndroom van Gentile","Syndroom van Joubert met congenitale leverfibrose","Syndroom van Joubert met leverafwijking"],"definition":"Syndroom van Joubert met hepatisch defect is een zeer zeldzaam subtype van syndroom van Joubert en aanverwante aandoeningen (JSRD, zie deze term), gekarakteriseerd door de neurologische kenmerken van JS in combinatie met congenitale leverfibrose (CHF)."},"pt":{"name":"Síndrome Joubert com defeito hepático","synonyms":["Síndrome COACH"],"definition":"A síndrome Joubert (JS) com defeito hepático é um subtipo muito raro da síndrome Joubert e doenças relacionadas (JSRD, ver este termo) caracterizada pelas manifestações neurológicas da JS associadas a fibrose hepática congénita (CHF)."},"pl":{"name":"Zespół Joubert z wadą wątroby","synonyms":["Hipoplazja robaka możdżku - oligofrenia - ataksja wrodzona - coloboma - zwłóknienie wątroby","JS-H","Zespół COACH","Zespół Gentile","Zespół Joubert z wrodzonym zwłóknieniem wątroby"]},"cs":{"name":"Joubertův syndrom s vrozenou jaterní fibrózou","synonyms":["COACH syndrom","Gentileho syndrom","JS-H","Hypoplázie mozečkové vermis, oligofrenie, vrozená ataxie, kolobom a jaterní fibróza","Joubertův syndrom s postižením jater"]},"uk":{"name":"Синдром Жубера з печінковою недостатністю","synonyms":["Гіпоплазія червяка мозочка-олігофренія-вроджена атаксія-колобома-фіброз печінки","Синдром COACH","Синдром Жентиля","Синдром Жубера з вродженим фіброзом печінки","JS-H"],"definition":"Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)."},"zh":{"name":"Joubert综合征伴肝缺损","synonyms":["小脑蚓部发育不良-智力发育不全-先天性共济失调-眼部分缺损-肝纤维化"]},"tr":{"name":"Karaciğer defektli Joubert sendromu","synonyms":["JS-H","COACH sendromu","Gentile sendromu","Doğumsal hepatik fibrozlu Joubert sendromu","Serebellar vermis hipoplazi-oligofreni-Doğumsal ataksi-kolobom-hepatik fibroz"]}},"xrefs":[{"source":"OMIM","code":"216360","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619111","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619113","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"139444027"},{"source":"MONDO","code":"0100349","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536430","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857662","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1410","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":156604,"name":"Genetic parenchymatous liver disease","classifications":[156]},{"orpha":140874,"name":"Joubert syndrome","classifications":[147,156,181,189]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":101939,"name":"Rare parenchymal liver disease","classifications":[183]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]},{"orpha":156165,"name":"Retinal ciliopathy","classifications":[156]}],"children":[],"genes":[{"symbol":"CC2D2A","name":"coiled-coil and C2 domain containing 2A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19574260[PMID]_20301500[PMID]","hgnc":"29253","ensembl":"ENSG00000048342","omim":"612013","loci":["4p15.32"]},{"symbol":"INPP5E","name":"inositol polyphosphate-5-phosphatase E","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301500[PMID]_19668216[PMID]","hgnc":"21474","ensembl":"ENSG00000148384","omim":"613037","loci":["9q34.3"]},{"symbol":"RPGRIP1L","name":"RPGRIP1 like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19574260[PMID]_20301500[PMID]","hgnc":"29168","ensembl":"ENSG00000103494","omim":"610937","loci":["16q12.2"]},{"symbol":"TMEM67","name":"transmembrane protein 67","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19574260[PMID]_17160906[PMID]_20615230[PMID]_20301500[PMID]","hgnc":"28396","ensembl":"ENSG00000164953","omim":"609884","loci":["8q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"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":null,"terms":[{"hpo":"HP:0002793","label":"Abnormal pattern of respiration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002612","label":"Congenital hepatic fibrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005248","label":"Intrahepatic biliary atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000588","label":"Optic disc coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000864","label":"Abnormality of the hypothalamus-pituitary axis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100626","label":"Chronic hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002896","label":"Neoplasm of the liver","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002085","label":"Occipital encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}