{"orpha":1415,"name":"Hardikar syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cholestasis-pigmentary retinopathy-cleft palate syndrome","HDKR","MED12-related Hardikar syndrome"],"definition":"A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1415/","orphanet_url":"https://www.orpha.net/en/disease/detail/1415","names":{"fr":{"name":"Syndrome d'Hardikar","synonyms":["Syndrome de cholestase-rétinopathie pigmentaire-fente palatine"],"definition":"Syndrome de malformations congénitales multiples. Il est caractérisé par l'association d'une fente labio-palatine, d'une rétinopathie pigmentaire en patch (patte de chat), d'une maladie hépatique obstructive (cholestase, hypertension portale...) et d'une maladie rénale obstructive (insertion urétérale ectopique, obstruction, reflux vésico-urétéral, hydronéphrose). Une atteinte des voies gastro-intestinales (malrotation, reflux gastro-oesophagien...) et une atteinte cardiaque (coarctation de l'aorte, sténose de l'artère pulmonaire...) ont aussi été rapportées. La possibilité d'un chevauchement avec le syndrome de Kabuki est débattue."},"de":{"name":"Hardikar-Syndrom","synonyms":["Cholestase-Pigmentretinopathie-Gaumenspalte-Syndrom","HDKR","MED12-assoziiertes Hardikar-Syndrom"],"definition":"Ein kongenitales multiples Fehlbildungssyndrom, das durch eine Kombination aus Lippen- und Gaumenspalte, Pigment-Retinopathie, obstruktiver Lebererkrankung (Cholestase, portale Hypertension usw.) und obstruktiver Nierenerkrankung (ektopische Ureterinsertion, Obstruktion, vesikouretraler Reflux und Hydronephrose) gekennzeichnet ist. Es wurde auch über eine Beteiligung des Gastrointestinaltrakts (Malrotation, gastresophagealer Reflux usw.) und des Herzens (Aortenisthmusstenose, Pulmonalarterienstenose usw.) berichtet. Eine Überschneidung mit dem Kabuki-Syndrom wird diskutiert."},"es":{"name":"Síndrome de Hardikar","synonyms":["HDKR","Síndrome de Hardikar asociado a MED12","Síndrome de colestasis-retinopatía pigmentaria-paladar hendido"],"definition":"Es un síndrome de malformaciones congénitas múltiples caracterizado por la asociación de labio leporino y fisura palatina, retinopatía pigmentaria parcheada (en zarpa de gato), enfermedad hepática obstructiva (colestasis, hipertensión portal, etc.) y enfermedad renal obstructiva (inserción ureteral ectópica, obstrucción, reflujo vesicoureteral e hidronefrosis). También se ha descrito afectación del tracto gastrointestinal (malrotación, reflujo gastroesofágico, etc.) y afectación cardíaca (coartación de la aorta, estenosis arterial pulmonar, etc.). Se discute un posible solapamiento con el síndrome de Kabuki."},"it":{"name":"Sindrome di Hardikar","synonyms":["HDKR","Sindrome colestasi-retinopatia pigmentata-palatoschisi","Sindrome di Hardikar correlata a MED12"],"definition":"La sindrome da colestasi-retinite pigmentosa-schisi palatina è una condizione da malformazioni congenite multiple, caratterizzata dall'associazione tra labioschisi e palatoschisi, retinite pigmentosa a chiazze (''a zampa di gatto''), epatopatia ostruttiva (colestasi, ipertensione portale, ecc.) e patologia renale ostruttiva (inserzione ectopica dell'uretere, ostruzione, reflusso vescico-ureterale e idronefrosi). Può anche essere interessato il tratto gastrointestinale (malrotazione, reflusso gastroesofageo, ecc.) e il cuore (coartazione dell'aorta, stenosi dell'arteria polmonare, ecc.). È in discussione una possibile sovrapposizione con la sindrome di Kabuki."},"nl":{"name":"Syndroom van Hardikar","synonyms":["Cholestase - pigmentretinopathie - gespleten gehemelte-syndroom","HDKR","MED12-gerelateerd syndroom van Hardikar"],"definition":"Een zeldzaam syndroom met multipele congenitale malformaties, gekenmerkt door associatie van gespleten lip en gehemelte, focale pigmentretinopathie (kattenpoot), obstructieve leverziekte (cholestase, portale hypertensie, en andere) en obstructieve nierziekte (ectopische insertie van ureter, obstructie, vesico-ureterale reflux en hydronefrose). Betrokkenheid van maag-darmstelsel (malrotatie, gastro-oesofageale reflux, en andere) en van hart (coarctatie van aorta, stenose van arteria pulmonalis, en andere) werden ook reeds gerapporteerd. Een overlap met Kabuki-syndroom is onderwerp van discussie."},"pt":{"name":"Síndrome Hardikar","synonyms":["HDKR","Síndrome Hardikar MED12-relacionada","Síndrome de colestase-retinopatia pigmentosa-fenda palatina"]},"pl":{"name":"Cholestaza - retinopatia barwnikowa - rozszczep podniebienia","synonyms":["Zespół Hardikara"],"definition":"Rzadki zespół mnogich wrodzonych wad rozwojowych, charakteryzujący się współistnieniem rozszczepu wargi i podniebienia, retinopatii barwnikowej o niejednolitym charakterze (zmiany o kształcie kociej łapy), obturacyjnej choroby wątroby (cholestaza, nadciśnienie wrotne itp.) oraz obturacyjnej choroby nerek (ektopowe ujście moczowodów, zwężenia, refluks pęcherzowo-moczowodowy i wodonercze). Zgłaszano również zajęcie układu pokarmowego (nieprawidłowy zwrot jelit, refluks żołądkowo-przełykowy itp.) oraz serca (koarktacja aorty, zwężenie tętnicy płucnej itp.). Dyskutowane jest nakładanie z zespołem Kabuki."},"cs":{"name":"Syndrom zahrnující cholestázu, pigmentovou retinopatii a rozštěp patra","synonyms":["Hardikarův syndrom"]},"uk":{"name":"Синдром Хардікара","synonyms":["Синдром холестазу-пігментної ретинопатії-розщеплення піднебіння","HDKR","Синдром Хардікара, повязаний з MED12"],"definition":"A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated."},"zh":{"name":"胆汁淤塞-色素性视网膜病-腭裂综合征","synonyms":["Hardikar 综合征"]},"tr":{"name":"Kolestaz-pigmenter retinopati-yarık damak sendromu","synonyms":["Hardikar sendromu"]}},"xrefs":[{"source":"OMIM","code":"301068","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012997","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535632","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795969","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9280","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":716342,"name":"Rare disorder with progressive predominantly chorioretinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"MED12","name":"mediator complex subunit 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"33244166[PMID]_35385210[PMID]","hgnc":"11957","ensembl":"ENSG00000184634","omim":"300188","loci":["Xq13.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"22243360[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22243360[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-05-12","source":"39045790[PMID]_35385210[PMID]_20301719[PMID]","terms":[{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012437","label":"Abnormal gallbladder morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004297","label":"Abnormality of the biliary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100890","label":"Cyst of the ductus choledochus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004942","label":"Aortic aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000413","label":"Ectopic ureteral orifice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002245","label":"Meckel diverticulum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000148","label":"Vaginal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null}]}}