{"orpha":300547,"name":"Autosomal recessive infantile hypercalcemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial infantile hypercalcemia with suppressed intact parathyroid hormone","IIH","Idiopathic infantile hypercalcemia","Infantile hypercalcaemia type 1"],"definition":"A rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-300547/","orphanet_url":"https://www.orpha.net/en/disease/detail/300547","names":{"fr":{"name":"Hypercalcémie infantile autosomique récessive","synonyms":["HII","Hypercalcémie infantile familiale avec diminution de PTHi","Hypercalcémie infantile familiale avec diminution de parathormone intacte","Hypercalcémie infantile idiopathique"],"definition":"Anomalie rare du métabolisme phosphocalcique d'origine génétique caractérisée par une hypercalcémie, une hypophosphatémie, une hypercalciurie, une diminution des taux sériques d'hormone parathyroïdienne intacte et une néphrocalcinose médullaire, se manifestant typiquement par un retard de croissance staturo-pondérale, une hypotonie, des vomissements, une constipation et/ou une polyurie."},"de":{"name":"Hyperkalzämie, infantile, autosomal-rezessive","synonyms":["Familiäre infantile Hyperkalzämie mit supprimiertem intakten Parathyroidhormon","IIH","Idiopathische infantile Hyperkalzämie","Infantile Hyperkalzämie Typ 1"],"definition":"Seltene, genetisch bedingte, phosphokalkalische Stoffwechselstörung, gekennzeichnet durch früh einsetzende Hyperkalzämie, Hypophosphatämie, Hyperkalziurie, erniedrigte Serumspiegel des intakten Parathormons und medulläre Nephrokalzinose, die sich typischerweise mit Gedeihstörungen, Hypotonie, Erbrechen, Obstipation und/oder Polyurie manifestiert."},"es":{"name":"Hipercalcemia del lactante autosómica recesiva","synonyms":["Hipercalcemia del lactante familiar con supresión de la hormona paratiroidea intacta","Hipercalcemia infantil idiopática","Hipercalcemia infantil tipo 1"],"definition":"Es un trastorno del metabolismo fosfocálcico, genético y poco frecuente, caracterizado por hipercalcemia de inicio temprano, hipofosfatemia, hipercalciuria, disminución de los niveles séricos de hormona paratiroidea intacta y nefrocalcinosis medular, que se manifiesta típicamente con fallo de medro, hipotonía, vómitos, estreñimiento y/o poliuria."},"it":{"name":"Ipercalcemia infantile autosomica recessiva","synonyms":["Ipercalcemia infantile idiopatica","IIH","Ipercalcemia infantile di tipo 1","Ipercalcemia infantile familiare con diminuzione dell'ormone paratiroideo intatto"],"definition":"L'ipercalcemia infantile autosomica recessiva è una malattia genetica rara del metabolismo fosfocalcico, caratterizzata da ipercalcemia ad esordio precoce, ipofosfatemia, ipercalciuria, livelli bassi dell'ormone paratiroideo nel siero e nefrocalcinosi midollare, che si solito si manifesta con ritardo della crescita, ipotonia, vomito, costipazione e/o poliuria."},"nl":{"name":"Autosomaal recessieve infantiele hypercalciëmie","synonyms":["Familiale infantiele hypercalciëmie met onderdrukt intact parathyroïdhormoon","IIH","Idiopathische infantiele hypercalciëmie","Infantiele hypercalciëmie type 1"],"definition":"Een zeldzame, genetische stoornis van het metabolisme van calcium en fosfaat, die gekarakteriseerd wordt door vroeg aanvangende hypercalciëmie, hypofosfatemie, hypercalciurie, verminderde gehaltes van intact parathyroïdhormoon in serum en medullaire nefrocalcinose, en die zich doorgaans manifesteert met groeiachterstand, hypotonie, braken, constipatie en/of polyurie."},"pt":{"name":"Hipercalcémia da infância autossómica recessiva"},"pl":{"name":"Autosomalna recesywna hiperkalcemia dziecięca","synonyms":["Familial infantile hypercalcemia with suppressed intact parathyroid hormone","IIH","Idiopathic infantile hypercalcemia","Infantile hypercalcaemia type 1"],"definition":"*Autosomalna recesywna hiperkalcemia niemowlęca jest rzadkim, genetycznie uwarunkowanym zaburzeniem gospodarki wapniowo-fosforanowej. Charakteryzuje się hiperkalcemią, hipofosfatemią i hiperkalciurią o wczesnym początku oraz zmniejszonym poziomem parathormonu w surowicy krwi i rdzeniową nefrokalcynozą; zwykle objawia się brakiem rozwoju, hipotonią, wymiotami, zaparciami i/lub wielomoczem ."},"cs":{"name":"Autozomálně recesivní infantilní hyperkalcémie","synonyms":["Familiární infantilní hyperkalcémie s potlačenými intaktními paratyreoidálními hormony"]},"uk":{"name":"Аутосомно-рецесивна інфантильна гіперкальціємія","synonyms":["Сімейна дитяча гіперкальціємія з пригніченням інтактного паратиреоїдного гормону"],"definition":"A rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria."},"zh":{"name":"常染色体隐性遗传性婴儿高钙血症","synonyms":["家族性婴儿高钙血症伴甲状旁腺激素受抑"],"definition":"一种罕见的遗传性磷钙代谢紊乱，其特征是早发性高钙血症、低磷血症、高钙血症、血清甲状旁腺激素降低和肾髓质钙化症，典型表现为生长发育不良、肌张力低下、呕吐、便秘和/或多尿。"},"tr":{"name":"Otozomal resesif infantil hiperkalsemi","synonyms":["İntakt paratiroid hormonu baskılanmış ailesel infantil hiperkalsemi"]}},"xrefs":[{"source":"OMIM","code":"143880","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616963","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0000212","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"212","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4329374","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"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]}],"children":[],"genes":[{"symbol":"CYP24A1","name":"cytochrome P450 family 24 subfamily A member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21675912[PMID]","hgnc":"2602","ensembl":"ENSG00000019186","omim":"126065","loci":["20q13.2"]},{"symbol":"SLC34A1","name":"solute carrier family 34 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26047794[PMID]","hgnc":"11019","ensembl":"ENSG00000131183","omim":"182309","loci":["5q35.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}