{"orpha":93372,"name":"Familial hypocalciuric hypercalcemia type 1","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["FHH type 1"],"definition":null,"note":"This disease is described under Familial hypocalciuric hypercalcemia","url":"https://raremap.alftech.space/d/ORPHA-93372/","orphanet_url":"https://www.orpha.net/en/disease/detail/93372","names":{"fr":{"name":"Hypercalcémie hypocalciurique familiale type 1","synonyms":["FHH type 1","Syndrome de Marx type 1"]},"de":{"name":"Hyperkalzämie, familiäre hypokalziurische, Typ 1","synonyms":["FHH Typ 1"]},"es":{"name":"Hipercalcemia hipocalciúrica familiar tipo 1","synonyms":["FHH tipo 1"]},"it":{"name":"Ipercalcemia ipocalciurica familiare, tipo 1","synonyms":["FHH, tipo 1"]},"nl":{"name":"Familiale hypocalciurische hypercalciëmie type 1","synonyms":["FHH type 1"]},"pt":{"name":"Hipercalcémia hipocalciúrica, familiar, tipo 1"},"pl":{"name":"Rodzinna hiperkalcemia hipokalciuryczna typu 1","synonyms":["FHH typu 1"]},"cs":{"name":"Familiární hypokalciurická hyperkalcémie, typ 1","synonyms":["FHH typ 1"]},"uk":{"name":"Сімейна гіпокальціурична гіперкальціємія, тип 1","synonyms":["FHH тип 1"]},"zh":{"name":"家族性低尿钙高血钙症1型","synonyms":["FFH1型"]},"tr":{"name":"ailesel hipokalsiürik hiperkalsemi tip 1","synonyms":["FHH tip 1"]}},"xrefs":[{"source":"OMIM","code":"145980","qualifier":"E","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":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0007791","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537145","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342637","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2796","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068704","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":405,"name":"Familial hypocalciuric hypercalcemia","classifications":[147,156,184,193,199,233]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"6-9 / 10 000","value":74.1,"area":"United States","status":"Validated","source":"32386559[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.5,"area":"Worldwide","status":"Validated","source":"21986511[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"United Kingdom","status":"Validated","source":"11353947[PMID]"}],"phenotypes":null}