{"orpha":171851,"name":"MEDNIK syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome","Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome"],"definition":"A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171851/","orphanet_url":"https://www.orpha.net/en/disease/detail/171851","names":{"fr":{"name":"Syndrome MEDNIK","synonyms":["Syndrome de déficience intellectuelle-entéropathie-surdité-neuropathie périphérique-ichtyose-kératodermie"],"definition":"Trouble rare du métabolisme du cuivre caractérisé par une déficience intellectuelle, une entéropathie, une surdité neurosensorielle, une neuropathie périphérique, une ichtyose lamellaire et érythrodermique et une kératodermie."},"de":{"name":"MEDNIK-Syndrom","synonyms":["Intelligenzminderung-Enteropathie-Schwerhörigkeit-periphere Neuropathie-Ichthyose-Keratodermie-Syndrom"],"definition":"Eine seltene Störung des Kupferstoffwechsels, die durch intellektuelle Beeinträchtigungen, Enteropathie, sensorineurale Schwerhörigkeit, periphere Neuropathie, lamelläre und erythrodermische Ichthyose und Keratodermie gekennzeichnet ist."},"es":{"name":"Síndrome MEDNIK","synonyms":["Síndrome de discapacidad intelectual-enteropatía-hipoacusia-neuropatía periférica-ictiosis-queratodermia","Síndrome de discapacidad intelectual-enteropatía-sordera-neuropatía periférica-ictiosis-queratodermia"],"definition":"Es un trastorno poco frecuente del metabolismo del cobre caracterizado por discapacidad intelectual, enteropatía, hipoacusia neurosensorial, neuropatía periférica, ictiosis lamelar y eritrodérmica, y queratodermia."},"it":{"name":"Sindrome MEDNIK","synonyms":["Deficit cognitivo - enteropatia - sordità - neuropatia periferica - ittiosi - cheratoderma","Sindrome deficit cognitivo-enteropatia-sordità-neuropatia periferica-ittiosi-cheratoderma"],"definition":"Si tratta di una malattia rara del metabolismo del rame, caratterizzata da deficit intellettivo, enteropatia, sordità neurosensoriale, neuropatia periferica, ittiosi lamellare ed eritrodermica, e cheratodermia."},"nl":{"name":"MEDNIK-syndroom","synonyms":["Intellectuele achterstand - enteropathie - doofheid - perifere neuropathie - ichthyosis - keratodermie-syndroom","Intellectuele achterstand - enteropathie - gehoorverlies - perifere neuropathie - ichthyosis - keratodermie-syndroom"],"definition":"Een zeldzame stoornis van kopermetabolisme, gekenmerkt door intellectuele achterstand, enteropathie, sensorineuraal gehoorverlies, perifere neuropathie, lamellaire en erytrodermische ichthyosis, en keratodermie."},"pt":{"name":"Síndrome MEDNIK","synonyms":["Síndrome de perturbação do desenvolvimento intelectual-enteropatia-perda auditiva-neuropatia periférica-ictiose-queratodermia","Síndrome de perturbação do desenvolvimento intelectual-enteropatia-surdez-neuropatia periférica-ictiose-queratodermia"],"definition":"Doença rara do metabolismo do cobre caracterizada por perturbação do desenvolvimento intelectual, enteropatia, perda auditiva neurossensorial, neuropatia periférica, ictiose lamelar e eritrodérmica e queratodermia."},"pl":{"name":"Zespół MEDNIK","synonyms":["Erytrokeratodermia zmiennopostaciowa 3","Erytrokeratodermia zmiennopostaciowa, typ Kamouraska","Niepełnosprawność intelektualna - enteropatia - głuchota - neuropatia obwodowa - rybia łuska - keratodermia"]},"cs":{"name":"Syndrom MEDNIK","synonyms":["Erythrokeratodermia variabilis 3","Erythrokeratodermia variabilis, kamouraský typ","Syndrom zahrnující mentální retardaci, enteropatii, hluchotu, periferní neuropatii, ichtyózu a keratodermii"]},"uk":{"name":"Синдром MEDNIK","synonyms":["Інтелектуальна недостатність-ентеропатія-глухота-периферична нейропатія-іхтіоз-кератодермія","Синдром інтелектуальної недостатності - ентеропатії - втрати слуху - периферичної нейропатії - іхтіозу - кератодермії"],"definition":"A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia."},"zh":{"name":"MEDNIK综合征","synonyms":["智力障碍-肠病-听力损失-外周神经病-鱼鳞病-皮肤角化病综合征"],"definition":"耳聋-周围神经病变-鱼鳞病-角化-精神发育迟滞-肠病综合征，过去称为可变性红斑角化病3型（EKV3），其主要临床表现为智力障碍，肠病，感音神经性听力丧失，周围神经病变，层状鱼鳞癣，红皮样鱼鳞病和皮肤角化病。（MEDNIK代表智力障碍，肠病，耳聋，周围神经病变，鱼鳞病，皮肤角化病）"},"tr":{"name":"MEDNIK sendromu","synonyms":["Zihinsel yetersizlik-enteropati-sağırlık-periferik nöropati-iktiyoz-keratodermi sendromu","Zihinsel yetersizlik-enteropati-işitme kaybı-periferik nöropati-iktiyoz-keratodermi sendromu"]}},"xrefs":[{"source":"OMIM","code":"609313","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"153548027"},{"source":"MONDO","code":"0012251","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836330","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":281238,"name":"Autosomal ichthyosis syndrome with prominent neurologic signs","classifications":[156,187]},{"orpha":309839,"name":"Disorder of copper metabolism","classifications":[150,156]},{"orpha":79355,"name":"Erythrokeratoderma","classifications":[187]},{"orpha":183438,"name":"Genetic erythrokeratoderma","classifications":[156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"AP1B1","name":"adaptor related protein complex 1 subunit beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31630791[PMID]","hgnc":"554","ensembl":"ENSG00000100280","omim":"600157","loci":["22q12.2"]},{"symbol":"AP1S1","name":"adaptor related protein complex 1 subunit sigma 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19057675[PMID]","hgnc":"559","ensembl":"ENSG00000106367","omim":"603531","loci":["7q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"23423674[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23423674[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-11-24","source":"23423674[PMID]","terms":[{"hpo":"HP:0002242","label":"Abnormal intestine morphology","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0010837","label":"Decreased circulating ceruloplasmin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011967","label":"Decreased circulating copper concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001406","label":"Intrahepatic cholestasis","frequency":"Frequent (79-30%)","criteria":null}]}}