{"orpha":30924,"name":"Primary hypomagnesemia with secondary hypocalcemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hypomagnesemia caused by selective magnesium malabsorption","Hypomagnesemia intestinal type 1","Intestinal hypomagnesemia with secondary hypocalcemia","PHSH","HOMG1","HSH"],"definition":"Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-30924/","orphanet_url":"https://www.orpha.net/en/disease/detail/30924","names":{"fr":{"name":"Hypomagnésémie primaire avec hypocalcémie secondaire","synonyms":["HOMG1","HSH","Hypomagnésémie intestinale avec hypocalcémie secondaire","Hypomagnésémie intestinale type 1","Hypomagnésémie par malabsorption sélective de magnésium","PHSH"],"definition":"L'hypomagnésémie primaire avec hypocalcémie secondaire (PHSH) est une forme d'hypomagnésémie primaire familiale caractérisée par une sévère hypomagnésémie et une hypocalcémie secondaire, associées à des signes neurologiques incluant des convulsions généralisées, une tétanie et des spasmes musculaires. La PHSH peut être fatale ou conduire à des complications neurologiques chroniques irréversibles."},"de":{"name":"Primäre Hypomagnesiämie mit sekundärer Hypokalzämie","synonyms":["HOMG1","HSH","Hypomagnesiämie durch selektive Magnesiumaufnahme","Hypomagnesiämie, intestinale, Typ 1","Hypomagnesiämie, intestinale, mit sekundärer Hypokalzämie","PHSH"],"definition":"ANPM"},"es":{"name":"Hipomagnesemia primaria con hipocalcemia secundaria","synonyms":["HOMG1","HSH","Hipomagnesemia causada por malabsorción selectiva de magnesio","Hipomagnesemia intestinal con hipocalcemia secundaria","Hipomagnesemia intestinal tipo 1","PHSH"],"definition":"La hipomagnesemia primaria con hipocalcemia secundaria (PHSH) es una forma de hipomagnesemia primaria familiar (FPH, consulte este término), que se caracteriza por hipomagnesemia grave e hipocalcemia secundaria asociadas con síntomas neurológicos, que incluyen convulsiones generalizadas, tetania y espasmos musculares. La PHSH puede ser letal o puede dar lugar a complicaciones neurológicas crónicas irreversibles."},"it":{"name":"Ipomagnesemia primitiva con ipocalcemia secondaria","synonyms":["HOMG1","HSH","Ipomagnesemia causata da malassorbimento selettivo del magnesio","Ipomagnesemia intestinale con ipocalcemia secondaria","Ipomagnesemia intestinale, tipo 1","PHSH"],"definition":"L'ipomagnesemia primitiva con ipocalcemia secondaria (PHSH) è una forma di ipomagnesemia primitiva familiare (FPH; si veda questo termine), caratterizzata da ipomagnesemia grave e ipocalcemia secondaria associata a sintomi neurologici, comprese le crisi generalizzate, la tetania e gli spasmi muscolari. L'PHSH può essere letale o portare a complicazioni neurologiche croniche irreversibili."},"nl":{"name":"Primaire hypomagnesiëmie met secundaire hypocalciëmie","synonyms":["HOMG1","HSH","Hypomagnesiëmie veroorzaakt door selectieve malabsorptie van magnesium","Intestinale hypomagnesiëmie met secundaire hypocalciëmie","Intestinale hypomagnesiëmie type 1","PHSH"],"definition":"'Primaire hypomagnesiëmie met secundaire hypocalciëmie (PHSH) is een vorm van familiale primaire hypomagnesiëmie (FPH; zie deze term) die wordt gekarakteriseerd door ernstige hypomagnesiëmie en secundaire hypocalciëmie geassocieerd met neurologische symptomen waaronder gegeneraliseerde insulten, tetanie en spierkrampen. PHSH kan fataal zijn of kan leiden tot chronische onomkeerbare neurologische complicaties.'"},"pt":{"name":"Hipomagnesemia por má absorção seletiva de magnésio","synonyms":["Hipomagnesemia intestinal primária com hipocalcémia secundária"]},"pl":{"name":"Hipomagnezemia pierwotna z wtórną hipokalcemią","synonyms":["Hipomagnezemia jelitowa typu 1","Hipomagnezemia jelitowa z wtórną hipokalcemią","Hipomagnezemia spowodowana selektywnym złym wchłanianiem magnezu","HOMG1","HSH","PHSH"]},"cs":{"name":"Primární hypomagnezémie se sekundární hypokalcémií","synonyms":["HOMG1","HSH","Intestinální hypomagnezémie, typ 1","Intestinální hypomagnezémie se sekundární hypokalcémií","PHSH","Hypomagnezémie způsobená selektivní malabsorpcí hořčíku"]},"uk":{"name":"Первинна гіпомагніємія з вторинною гіпокальціємією","synonyms":["HOMG1","HSH","Гіпомагніємія, спричинена селективною мальабсорбцією магнію","Гіпомагніємія кишкового типу 1","Кишкова гіпомагніємія з вторинною гіпокальціємією","PHSH"],"definition":"Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications."},"zh":{"name":"原发性低镁血症继发性低钙血症","synonyms":["选择性肠吸收不良性低镁血症"]},"tr":{"name":"Sekonder hipokalsemi ile seyreden primer hipomagnezemi","synonyms":["HSH","PHSH","HOMG1","Hipomagnezemi intestinal tip 1","Sekonder hipokalsemili bağırsak hipomagnezemisi","Seçici magnezyum malabsorpsiyonunun neden olduğu hipomagnezemi"]}},"xrefs":[{"source":"OMIM","code":"602014","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":"1707590653"},{"source":"MONDO","code":"0011176","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566593","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1865974","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13072","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":309848,"name":"Disorder of magnesium transport","classifications":[150,156]},{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]}],"children":[],"genes":[{"symbol":"TRPM6","name":"transient receptor potential cation channel subfamily M member 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12032570[PMID]_12032568[PMID]","hgnc":"17995","ensembl":"ENSG00000119121","omim":"607009","loci":["9q21.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"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}