{"orpha":306516,"name":"Primary hypomagnesemia with hypercalciuria and nephrocalcinosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FHHNC","Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis","Michellis-Castrillo syndrome"],"definition":"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-306516/","orphanet_url":"https://www.orpha.net/en/disease/detail/306516","names":{"fr":{"name":"Hypomagnésémie primaire avec hypercalciurie et néphrocalcinose","synonyms":["FHHNC","Hypomagnésémie primaire familiale avec hypercalciurie et néphrocalcinose","Syndrome de Michellis-Castrillo"],"definition":"L'hypomagnésémie primaire familiale avec hypercalciurie et néphrocalcinose (FHHNC) est une forme d'hypomagnésémie primaire familiale (FPH) caractérisée par une perte rénale de magnésium (Mg) et calcium (Ca), une néphrocalcinose, une insuffisance rénale, et dans certains cas, une atteinte oculaire sévère. Deux sous-types de FHHNC ont été décrits : la FHHNC avec et sans atteinte oculaire sévère."},"de":{"name":"Primäre Hypomagnesiämie mit Hyperkalziurie und Nephrokalzinose","synonyms":["FHHNC","Familiäre primäre Hypomagnesiämie mit Hyperkalziurie und Nephrokalzinose","Michellis-Castrillo-Syndrom"]},"es":{"name":"Hipomagnesemia primaria con hipercalciuria y nefrocalcinosis","synonyms":["FHHNC","Hipomagnesemia primaria familiar con hipercalciuria y nefrocalcinosis","Síndrome de Michellis-Castrillo"],"definition":"La hipomagnesemia primaria familiar con hipercalciuria y nefrocalcinosis (FHHNC) es una de las formas de hipomagnesemia primaria familiar (FPH, consulte este término), caracterizada por la pérdida renal de magnesio (Mg) y calcio (Ca), nefrocalcinosis, insuficiencia renal y, en algunos casos, deterioro ocular grave. Se han descrito dos subtipos de FHHNC: FHHNC con afectación ocular grave (FHHNCOI) y sin afectación ocular grave (FHHN) (consulte estos términos)."},"it":{"name":"Ipomagnesemia primitiva con ipercalciuria e nefrocalcinosi","synonyms":["FHHNC","Ipomagnesemia primitiva familiare con ipercalciuria e nefrocalcinosi","Sindrome di Michellis-Castrillo"],"definition":"L'ipomagnesemia primitiva familiare con ipercalciuria e nefrocalcinosi (FHHNC) è una forma di ipomagnesemia primitiva familiare (FPH; si veda questo termine), caratterizzata da perdita di magnesio (Mg) e calcio (Ca) attraverso il rene, nefrocalcinosi, insufficienza renale e, in alcuni casi, difetti visivi gravi. Sono stati descritti due sottotipi di FHHNC: FHHNC con coinvolgimento oculare grave (FHHNCOI) e senza coinvolgimento oculare grave (FHHN) (si vedano questi termini)."},"nl":{"name":"Primaire hypomagnesiëmie met hypercalciurie en nefrocalcinose","synonyms":["FHHNC","Familiale primaire hypomagnesiëmie met hypercalciurie en nefrocalcinose","Syndroom van Michellis-Castrillo"],"definition":"Familiale primaire hypomagnesiëmie met hypercalciurie en nefrocalcinose (FHHNC) is een vorm van familiale primaire hypomagnesiëmie (FPH; zie deze term) die wordt gekarakteriseerd door een verlies van magnesium (Mg) en calcium (Ca) in de nieren, nefrocalcinose, nierfalen en, in sommige gevallen, ernstige beperkingen aan de ogen. Er werden twee subtypes van FHHNC beschreven: FHHNC met ernstige oculaire betrokkenheid (FHHNCOI) en zonder ernstige oculaire betrokkenheid (FHHN) (zie deze termen)."},"pt":{"name":"Hipomagnesemia primária com hipercalciúria e nefrocalcinose","synonyms":["FHHNC","Hipomagnesemia primária familiar com hipercalciúria e nefrocalcinose","Síndrome Michellis-Castrillo"]},"pl":{"name":"Pierwotna hipomagnezemia z hiperkalciurią i nefrokalcynozą","synonyms":["FHHNC","Zespół Michellisa i Castrillo","Pierwotna hipomagnezemia z hipekalciurią i nefrokalcynozą"]},"cs":{"name":"Primární hypomagnézie s hyperkalciurií a nefrokalcinózou","synonyms":["FHHNC","Michellisův-Castrillův syndrom","Michellis-Castrillův syndrom"]},"uk":{"name":"Первинна гіпомагніємія з гіперкальціурією та нефрокальцинозом","synonyms":["Сімейна первинна гіпомагніємія з гіперкальціурією та нефрокальцинозом","FHHNC","Синдром Мічелліса-Кастрілло"],"definition":"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)."},"zh":{"name":"家族性原发性低镁血症伴高钙尿症和肾钙质沉着症","synonyms":["Michellis-Castrillo综合征"],"definition":"家族原发性低镁血症伴高钙尿症和肾钙质沉着症（FHHNC）是一种家族性原发性低镁血症（FPH，见本术语），其特征是肾镁（Mg）和钙（Ca）消耗、肾钙质沉着、肾功能衰竭，部分病例可有严重眼部损害。FHHNC分为两种亚型：FHHNC伴严重眼部受累（FHNCOI）和无严重眼部受累（FHHHNC）（见这些术语）。"},"tr":{"name":"Hiperkalsiüri ve nefrokalsinoz ile seyreden ailesel primer hipomagnezemi","synonyms":["FHHNC","Michellis-Castrillo sendromu"]}},"xrefs":[{"source":"ICD-10","code":"E83.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.41","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017624","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679977","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":309848,"name":"Disorder of magnesium transport","classifications":[150,156]},{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]}],"children":[{"orpha":2196,"name":"Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement","type":"Clinical subtype"},{"orpha":31043,"name":"Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"CLDN16","name":"claudin 16","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18816383[PMID]_11518780[PMID]_10878661[PMID]","hgnc":"2037","ensembl":"ENSG00000113946","omim":"603959","loci":["3q28"],"via":{"orpha":31043,"name":"Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement"}},{"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"],"via":{"orpha":2196,"name":"Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement"}}],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"23334384[PMID]"}],"phenotypes":null}