{"orpha":2196,"name":"Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["FHHNC with severe ocular involvement","Hypercalciuria-bilateral macular coloboma syndrome","Meier-Blumberg-Imahorn syndrome"],"definition":"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2196/","orphanet_url":"https://www.orpha.net/en/disease/detail/2196","names":{"fr":{"name":"Hypomagnésémie primaire avec hypercalciurie et néphrocalcinose avec atteinte oculaire sévère","synonyms":["FHHNC avec atteinte oculaire sévère","Syndrome d'hypercalciurie-colobome bilatéral de la rétine","Syndrome de Meier-Blumberg-Imahorn"],"definition":"L'hypomagnésémie primaire familiale avec hypercalciurie et néphrocalcinose (FHHNC) avec atteinte oculaire sévère est une forme d'hypomagnésémie primaire familiale (FPH). Elle se caractérise par une perte rénale excessive de magnésium et de calcium, une néphrocalcinose bilatérale, une insuffisance rénale progressive et des anomalies oculaires sévères."},"de":{"name":"Primäre Hypomagnesiämie mit Hyperkalziurie, Nephrokalzinoseund schwerer Augenbeteiligung","synonyms":["FHHNC mit schwerer Augenbeteiligung","Hyperkalziurie-bilaterales Makulakolobom-Syndrom","Meier-Blumberg-Imahorn-Syndrom"]},"es":{"name":"Hipomagnesemia primaria con hipercalciuria y nefrocalcinosis con afectación ocular grave","synonyms":["FHHNC con afectación ocular grave","Síndrome de Meier-Blumberg-Imahorn","Síndrome de hipercalciuria-coloboma macular bilateral"],"definition":"La hipomagnesemia primaria familiar con hipercalciuria y nefrocalcinosis con afectación ocular grave (FHHNCOI) es una forma de hipomagnesemia primaria familiar (FPH, consulte este término), caracterizada por la pérdida renal excesiva de magnesio y calcio, nefrocalcinosis bilateral, insuficiencia renal progresiva y anomalías oculares graves."},"it":{"name":"Ipomagnesemia primitiva familiare con ipercalciuria e nefrocalcinosi con coinvolgimento oculare grave","synonyms":["FHHNC con coinvolgimento oculare grave","Sindrome da ipercalciuria e coloboma maculare bilaterale","Sindrome di Meier-Blumberg-Imahorn"],"definition":"L'ipomagnesemia primitiva familiare con ipercalciuria e nefrocalcinosi con coinvolgimento oculare grave (FHHNCOI) è una forma di ipomagnesemia primitiva familiare (FPH; si veda questo termine), caratterizzata dalla perdita di magnesio e calcio attraverso il rene, nefrocalcinosi bilaterale, insufficienza renale progressiva e anomalie oculari gravi."},"nl":{"name":"Primaire hypomagnesiëmie met hypercalciurie en nefrocalcinose met ernstige oculaire betrokkenheid","synonyms":["FHHNC met ernstige oculaire betrokkenheid","Hypercalciurie - bilateraal maculacoloboom-syndroom","Syndroom van Meier-Blumberg-Imahorn"],"definition":"'Familiale primaire hypomagnesiëmie met hypercalciurie en nefrocalcinose met ernstige oculaire betrokkenheid (FHHNCOI) is een vorm van familiale primaire hypomagnesiëmie (FPH; zie deze term) die wordt gekarakteriseerd door een overmatig verlies van magnesium en calcium in de nieren, bilaterale nefrocalcinose, progressief nierfalen en ernstige afwijkingen aan de ogen.'"},"pt":{"name":"Hipomagnesemia primária com hipercalciúria e nefrocalcinose com envolvimento ocular grave","synonyms":["FHHNC com envolvimento ocular grave","Síndrome Meier-Blumberg-Imahorn","Síndrome de hipercalciúria-coloboma macular bilateral"]},"pl":{"name":"Pierwotna hipomagnezemia rodzinna z hiperkalciurią i nefrokalcynozą z ciężkim zajęciem narządu wzroku","synonyms":["FHHNC z ciężkim zajęciem narządu wzroku","Hiperkalciuria - obustronna szczelina plamki","Zespół Meiera, Blumberga i Imahorna","Pierwotna hipomagnezemia i nefrokalcynoza z ciężkim zająciem oczu"]},"cs":{"name":"Primární hypomagnesémie s hyperkalciurií a nefrokalcinózou s vážným postižením očí","synonyms":["Syndrom zahrnující hyperkalciurii a bilaterální makulární kolobom","FHHNC s vážným postižením očí","Meierův-Blumbergův-Imahornův syndrom","Meier-Blumberg-Imahornův syndrom"]},"uk":{"name":"Первинна гіпомагніємія з гіперкальціурією та нефрокальцинозом з тяжким ураженням очей","synonyms":["FHHNC з тяжким ураженням очей","Синдром гіперкальціурії та двобічної макулярної колобоми","Синдром Майєра-Блюмберга-Імахорна"],"definition":"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities."},"zh":{"name":"家族性原发性低镁症伴高钙尿和肾钙质沉着症伴严重眼部受累","synonyms":["高钙尿-双眼黄斑缺损综合征"]},"tr":{"name":"Hiperkalsiüri ile ailesel primer hipomagnezemi ve ağır oküler tutulumlu nefrokalsinoz","synonyms":["Meier-Blumberg-Imahorn sendromu","Ağır oküler tutulum ile seyreden FHHNC","Hiperkalsiüri-bilateral maküler kolobom sendromu"]}},"xrefs":[{"source":"OMIM","code":"248190","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.41","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"154680834"},{"source":"MONDO","code":"0009548","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565423","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855466","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3451","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":306516,"name":"Primary hypomagnesemia with hypercalciuria and nephrocalcinosis","classifications":[150,156,188,233]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"CLDN19","name":"claudin 19","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17033971[PMID]","hgnc":"2040","ensembl":"ENSG00000164007","omim":"610036","loci":["1p34.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":72.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100530","label":"Abnormality of calcium-phosphate metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001116","label":"Macular coloboma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null}]}}