{"orpha":417,"name":"Neonatal severe primary hyperparathyroidism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NSHPT"],"definition":"Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-417/","orphanet_url":"https://www.orpha.net/en/disease/detail/417","names":{"fr":{"name":"Hyperparathyroïdie primitive sévère néonatale","synonyms":["NSHPT"],"definition":"L'hyperparathyroïdie primitive sévère néonatale (HPSN) est caractérisée par une hypercalcémie sévère (>3,5 mmol/l) à la naissance associée à une hyperparathyroïdie majeure."},"de":{"name":"Hyperparathyroidismus, neonataler primärer schwerer","synonyms":["NSHPT"],"definition":"Der neonatale primäre schwere Hyperparathyroidismus (NSHPT) ist labormedizinisch durch eine schwere, von Geburt an bestehende Hyperkalzämie (> 3.5 mM) gekennzeichnet."},"es":{"name":"Hiperparatiroidismo primario neonatal grave","synonyms":["NSHPT"],"definition":"El hiperparatiroidismo primario neonatal grave (NSHPT) se caracteriza por una hipercalcemia grave (> 3.5 mM) desde el nacimiento, asociada a un hiperparatiroidismo importante."},"it":{"name":"Iperparatiroidismo primitivo grave neonatale","synonyms":["NSHPT"],"definition":"L'iperparatiroidismo primitivo grave neonatale (NSHPT) è caratterizzato da grave ipercalcemia (> 3.5 mM) sin dalla nascita e si associa ad un importante iperparatiroidismo."},"nl":{"name":"Neonatale ernstige primaire hyperparathyreoïdie","synonyms":["NSHPT"],"definition":"Neonatale ernstige primaire hyperparathyreoïdie (NSHPT) wordt gekenmerkt door ernstige hypercalciëmie (> 3,5 mm) vanaf de geboorte en is geassocieerd met belangrijke hyperparathyreoïdie."},"pt":{"name":"Hiperparatiroidismo primário grave neonatal","definition":"O hiperparatiroidismo primário neonatal grave (NSHPT) é caracterizado por uma hipercalcemia grave (> 3,5 mM) desde o nascimento e associa-se a um hiperparatiroidismo importante."},"pl":{"name":"Ciężka pierwotna nadczynność przytarczyc noworodków","synonyms":["NSHPT"]},"cs":{"name":"Novorozenecká těžká primární hyperparathyreóza","synonyms":["NSHPT"]},"uk":{"name":"Неонатальний тяжкий первинний гіперпаратиреоз","synonyms":["NSHPT"],"definition":"Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism."},"zh":{"name":"新生儿重症原发性甲状旁腺功能亢进","synonyms":["NSHPT"]},"tr":{"name":"Yenidoğan ağır primer hiperparatiroidizmi","synonyms":["NSHPT"]}},"xrefs":[{"source":"OMIM","code":"239200","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"618188","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E21.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A51.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1929875111"},{"source":"MONDO","code":"0009397","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563375","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832615","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2838","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":208596,"name":"Genetic hyperparathyroidism","classifications":[156]},{"orpha":93447,"name":"Primary bone dysplasia with defective bone mineralization","classifications":[147,156,199]},{"orpha":181408,"name":"Rare hyperparathyroidism","classifications":[193]}],"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"]},{"symbol":"TRPV6","name":"transient receptor potential cation channel subfamily V member 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29861107[PMID]","hgnc":"14006","ensembl":"ENSG00000165125","omim":"606680","loci":["7q34"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100530","label":"Abnormality of calcium-phosphate metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000820","label":"Abnormality of the thyroid gland","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null}]}}