{"orpha":405,"name":"Familial hypocalciuric hypercalcemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FBH","FBHH","FHH","Familial benign hypercalcemia","Familial benign hypocalciuric hypercalcemia"],"definition":"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-405/","orphanet_url":"https://www.orpha.net/en/disease/detail/405","names":{"fr":{"name":"Hypercalcémie hypocalciurique familiale","synonyms":["FBH","FBHH","FHH","Hypercalcémie bénigne familiale","Hypercalcémie hypocalciurique bénigne familiale","Syndrome de Marx"],"definition":"L'hypercalcémie hypocalciurique familiale (HHF) est une maladie génétique généralement asymptomatique du métabolisme phosphocalcique, caractérisée par une hypercalcémie modérée à vie associée à une calciurie normale à basse et des taux de parathormone (PTH) plasmatique élevés."},"de":{"name":"Hyperkalzämie, familiäre hypokalziurische","synonyms":["FBH","FBHH","FHH","Familiäre benigne hypokalziurische Hyperkalzämie","Hyperkalzämie, benigne familiäre"],"definition":"Die familiäre hypokalziurische Hyperkalzämie (FHH) ist eine meist symptomfreie genetische Störung des Mineralstoffwechsels mit lebenslang bestehender moderater Hyperkalzämie bei normaler oder verminderter Kalziumausscheidung im Urin und erhöhter Plasmakonzentration des Parathormons (PTH)."},"es":{"name":"Hipercalcemia hipocalciúrica familiar","synonyms":["FBH","FBHH","FHH","Hipercalcemia familiar benigna","Hipercalcemia hipocalciúrica familiar benigna"],"definition":"La hipercalcemia hipocalciúrica familiar (FHH) es un trastorno genético del metabolismo mineral, generalmente asintomático, que se caracteriza por una hipercalcemia moderada durante toda la vida junto con normo o hipocalciuria y una elevada concentración de hormona paratiroidea (PTH) en plasma."},"it":{"name":"Ipercalcemia ipocalciurica familiare","synonyms":["FBH","FBHH","FHH","Ipercalcemia benigna familiare","Ipercalcemia ipocalciurica benigna familiare"],"definition":"L'ipercalcemia ipocalciurica familiare (FHH) è un difetto genetico, in genere asintomatico, del metabolismo minerale, caratterizzato da ipercalcemia moderata permanente, associata a normo- o ipocalciuria ed elevate concentrazioni plasmatiche di ormone paratiroideo (PTH)."},"nl":{"name":"Familiale hypocalciurische hypercalciëmie","synonyms":["FBH","FBHH","FHH","Familiale goedaardige hypercalciëmie","Familiale goedaardige hypocalciurische hypercalciëmie"],"definition":"Familiale hypocalciurische hypercalciëmie (FHH) is een gewoonlijk asymptomatische genetische stoornis van het fosfor-calciummetabolisme die gekenmerkt wordt door levenslange matige hypercalciëmie samen met normo- of hypocalciurie en verhoogde plasmaconcentratie van parathormoon (PTH)."},"pt":{"name":"Hipercalcemia hipocalciúrica familiar","synonyms":["FBH","FBHH","FHH","Hipercalcemia benigna familiar","Hipercalcemia hipocalciúrica benigna familiar"],"definition":"A hipercalcémia hipocalciúrica familiar (FHH) é uma doença genética do metabolismo fosfocálcio, geralmente assintomática, caracterizada ao longo da vida por hipercalcémia moderada, com normo ou hipocalciúria e aumento da concentração plasmática de hormona paratiroideia (PTH)."},"pl":{"name":"Rodzinna hiperkalcemia hipokalciuryczna","synonyms":["FBH","FBHH","FHH","Rodzinna łagodna hiperkalcemia","Rodzinna łagodna hiperkalcemia hipokalciuryczna"]},"cs":{"name":"Familiární hypokalciurická hyperkalcemie","synonyms":["FBH","FBHH","FHH","Familiární benigní hyperkalcemie","Familiární benigní hypokalciurická hyperkalcemie"]},"uk":{"name":"Сімейна гіпокальціурична гіперкальціємія","synonyms":["Сімейна доброякісна гіперкальціємія","Сімейна доброякісна гіпокальціурична гіперкальціємія","FBH","FBHH","FHH"],"definition":"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration."},"zh":{"name":"家族性低尿钙高血钙症","synonyms":["家族性良性低尿钙高血钙症"]},"tr":{"name":"Ailesel hipokalsiürik hiperkalsemi","synonyms":["FBH","FHH","FBHH","Ailesel selim hiperkalsemi","Ailesel selim hipokalsiürik hiperkalsemi"]}},"xrefs":[{"source":"OMIM","code":"145980","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"145981","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600740","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A51.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"81374726"},{"source":"MONDO","code":"0018458","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1809471","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10828","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068698","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":93447,"name":"Primary bone dysplasia with defective bone mineralization","classifications":[147,156,199]},{"orpha":183634,"name":"Rare genetic parathyroid disease and phosphocalcic metabolism disorder","classifications":[156]},{"orpha":68415,"name":"Rare parathyroid disease and phosphocalcic metabolism anomaly","classifications":[193]},{"orpha":264719,"name":"Secondary interstitial lung disease specific to childhood associated with a metabolic disease","classifications":[184,233]}],"children":[{"orpha":93372,"name":"Familial hypocalciuric hypercalcemia type 1","type":"Etiological subtype"},{"orpha":101049,"name":"Familial hypocalciuric hypercalcemia type 2","type":"Etiological subtype"},{"orpha":101050,"name":"Familial hypocalciuric hypercalcemia type 3","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"CASR","name":"calcium sensing receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":null,"hgnc":"1514","ensembl":"ENSG00000036828","omim":"601199","loci":["3q13.33-q21.1"],"via":{"orpha":93372,"name":"Familial hypocalciuric hypercalcemia type 1"}},{"symbol":"GNA11","name":"G protein subunit alpha 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23802516[PMID]","hgnc":"4379","ensembl":"ENSG00000088256","omim":"139313","loci":["19p13.3"],"via":{"orpha":101049,"name":"Familial hypocalciuric hypercalcemia type 2"}},{"symbol":"AP2S1","name":"adaptor related protein complex 2 subunit sigma 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23222959[PMID]","hgnc":"565","ensembl":"ENSG00000042753","omim":"602242","loci":["19q13.32"],"via":{"orpha":101050,"name":"Familial hypocalciuric hypercalcemia type 3"}}],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-06","source":"26963950[PMID]_22047572[PMID]_7311809[PMID]_4643023[PMID]_23802516[PMID]_23222959[PMID]_1524075[PMID]_15269316[PMID]","terms":[{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003127","label":"Hypocalciuria","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003529","label":"Parathormone-independent increased renal tubular calcium reabsorption","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003513","label":"Reduced ratio of renal calcium clearance to creatinine clearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002749","label":"Osteomalacia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008732","label":"Renal hypophosphatemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000934","label":"Chondrocalcinosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002574","label":"Episodic abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002918","label":"Hypermagnesemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012609","label":"Hypomagnesiuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004398","label":"Peptic ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002199","label":"Hypocalcemic seizures","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012032","label":"Lipoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Excluded (0%)","criteria":null}]}}