{"orpha":31043,"name":"Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["FHHNC without severe ocular involvement","HOMG3","Renal hypomagnesemia type 3"],"definition":"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-31043/","orphanet_url":"https://www.orpha.net/en/disease/detail/31043","names":{"fr":{"name":"Hypomagnésémie primaire avec hypercalciurie et néphrocalcinose sans atteinte oculaire sévère","synonyms":["FHHNC sans atteinte oculaire sévère","HOMG3","Hypomagnésémie rénale type 3"],"definition":"L'hypomagnésémie primaire familiale avec hypercalciurie et néphrocalcinose (FHHNC) sans atteinte oculaire sévère est une forme d'hypomagnésémie primaire familiale caractérisée par des infections récurrentes des voies urinaires, une néphrolithiase, une néphrocalcinose bilatérale, une fuite rénale en magnésium, un hypercalciurie et une insuffisance rénale."},"de":{"name":"Familiäre Hypomagnesiämie mit Hyperkalziurie und Nephrokalzinose ohne schwere Augenbeteiligung","synonyms":["FHHNC ohne schwere Augenbeteiligung","HOMG3","Hypomagnesiämie, renale, Typ 3"]},"es":{"name":"Hipomagnesemia primaria con hipercalciuria y nefrocalcinosis sin afectación ocular grave","synonyms":["FHHNC sin afectación ocular grave","HOMG3","Hipomagnesemia renal tipo 3"],"definition":"La hipomagnesemia primaria familiar con hipercalciuria y nefrocalcinosis sin afectación ocular grave (FHHN) es una forma de hipomagnesemia primaria familiar (FPH, consulte este término), caracterizada por infecciones recurrentes del tracto urinario, nefrolitiasis, nefrocalcinosis bilateral, pérdida renal de magnesio (Mg), hipercalciuria e insuficiencia renal."},"it":{"name":"Ipomagnesemia primitiva con ipercalciuria e nefrocalcinosi senza interessamento oculare grave","synonyms":["FHHNC senza coinvolgimento oculare grave","HOMG3","Ipomagnesemia renale tipo 3"],"definition":"L'ipomagnesemia primitiva familiare con ipercalciuria e nefrocalcinosi senza coinvolgimento oculare grave (FHHN) è una forma di ipomagnesemia primitiva familiare (FPH; si veda questo termine), caratterizzata da infezioni ricorrenti delle vie urinarie, nefrolitiasi, nefrocalcinosi bilaterale, perdita di magnesio (Mg) attraverso il rene, ipercalciuria e insufficienza renale."},"nl":{"name":"Primaire hypomagnesiëmie met hypercalciurie en nefrocalcinose zonder ernstige oculaire betrokkenheid","synonyms":["FHHNC zonder ernstige oculaire betrokkenheid","HOMG3","Renale hypomagnesiëmie type 3"],"definition":"'Familiale primaire hypomagnesiëmie met hypercalciurie en nefrocalcinose zonder ernstige oculaire betrokkenheid (FHHN) is een vorm van familiale primaire hypomagnesiëmie (FPH; zie deze term) die wordt gekarakteriseerd door terugkerende infecties van de urinewegen, nefrolithiasis, bilaterale nefrocalcinose, renaal verlies van magnesium (Mg), hypercalciurie en nierfalen.'"},"pt":{"name":"Hipomagnesemia primária com hipercalciúria e nefrocalcinose sem envolvimento ocular grave","synonyms":["FHHNC sem envolvimento ocular grave","HOMG3","Hipomagnesemia renal tipo 3"],"definition":"A hipomagnesemia primária familiar com hipercalciúria e nefrocalcinose sem envolvimento ocular grave (HPFN) é uma forma de hipomagnesemia primária familiar (HPF), caracterizada por infeções urinárias recorrentes, nefrolitíase, nefrocalcinose bilateral, perda renal de magnésio (Mg), hipercalciúria e insuficiência renal."},"pl":{"name":"Pierwotna hipomagnezemia rodzinna z hiperkalciurią i nefrokalcynozą bez ciężkiego uszkodzenia oczu","synonyms":["FHHNC bez poważnych zmian narządu wzroku","Hipomagnezemia nerkowa typu 3","HOMG3","Pierwotna hipomagnezemia z hipekalciurią i nefrokalcynozą bez ciężkiego zajęcia oczu"]},"cs":{"name":"Primární hypomagnezémie s hyperkalciurií a nefrokalcinózou bez těžkého postižení očí","synonyms":["HOMG3","Renální hypomagnezémie, typ 3","FHHNC bez těžké oční poruchy"]},"uk":{"name":"Первинна гіпомагніємія з гіперкальціурією та нефрокальцинозом без тяжкого ураження очей","synonyms":["FHHNC без тяжкого ураження очей","HOMG3","Ниркова гіпомагніємія типу 3"],"definition":"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure."},"zh":{"name":"家族原发性低镁血症合并高钙尿症和肾钙质沉着症不伴严重眼部累及","synonyms":["FHHNC不伴严重眼部累及"]},"tr":{"name":"Ailesel primer hipomagnezemi, hiperkalsiüri ve ağır oküler tutulumu olmayan nefrokalsinoz","synonyms":["HOMG3","Böbrek hipomagnezemi tip 3","Ağır oküler tutulumu ile seyretmeyen FHHNC"]}},"xrefs":[{"source":"OMIM","code":"248250","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":"85589118"},{"source":"MONDO","code":"0009550","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511528","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2906","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]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":110.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}