{"orpha":620368,"name":"EGF-related primary hypomagnesemia with intellectual disability","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare disorder of magnesium transport characterized by hypomagnesemia due to renal wasting, leading to tetany, early-onset seizures, impaired psychomotor development, and moderate intellectual disability. Secondary hypocalcemia and obesity are absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-620368/","orphanet_url":"https://www.orpha.net/en/disease/detail/620368","names":{"fr":{"name":"Hypomagnésémie primaire avec déficience intellectuelle associée à EGF","definition":"Anomalie rare du transport du magnésium caractérisée par une hypomagnésémie due à une déperdition rénale, entraînant une tétanie, des crises d'épilepsie précoces, des troubles du développement psychomoteur et une déficience intellectuelle modérée. Hypocalcémie secondaire et obésité ne sont pas observées."},"de":{"name":"EGF-assoziierte primäre Hypomagnesiämie mit Intelligenzminderung","definition":"Eine seltene Stoffwechselstörung, die aus einer Störung des Magnesiumtransports resultiert und durch Hypomagnesiämie aufgrund von Nierenversagen gekennzeichnet ist. Zu den Symptomen gehören Tetanie, früh einsetzenden Krampfanfällen, beeinträchtigte psychomotorische Entwicklung und Intelligenzminderung. Eine sekundäre Hypokalzämie und Adipositas sind nicht vorhanden."},"es":{"name":"Hipomagnesemia primaria con discapacidad intelectual asociada a EGF","definition":"Es un trastorno poco frecuente del transporte de magnesio caracterizado por hipomagnesemia debido a la emaciación renal, que provoca tetania, convulsiones de aparición precoz, afectación del desarrollo psicomotor y discapacidad intelectual moderada. No asocia hipocalcemia secundaria ni obesidad."},"it":{"name":"Ipomagnesemia primitiva correlata a EGF con disabilità intellettiva"},"nl":{"name":"EGF-gerelateerde primaire hypomagnesiëmie met intellectuele achterstand","definition":"Een zeldzame aandoening van magnesiumtransport, gekenmerkt door hypomagnesiëmie door verlies van magnesium via de nieren, wat leidt tot tetanie, vroeg optredende insulten, verstoorde psychomotorische ontwikkeling, en matige intellectuele achterstand. Secundaire hypocalciëmie en obesitas zijn afwezig."},"pt":{"name":"Hipomagnesémia primária EGF-relacionada com perturbação do desenvolvimento intelectual"},"pl":{"name":"Pierwotna hipomagnezemia związana z EGF, z niepełnosprawnością intelektualną","definition":"Rzadkie zaburzenie transportu magnezu charakteryzujące się hipomagnezemią spowodowaną jego nerkową utratą, co prowadzi do tężyczki, napadów padaczkowych o wczesnym początku, zaburzeń rozwoju psychoruchowego oraz umiarkowanej niepełnosprawności intelektualnej. Nie występuje wtórna hipokalcemia i otyłość."},"cs":{"name":"EGF asociovaná primární hypomagnezémie s intelektovou nedostatečností"},"uk":{"name":"Первинна гіпомагніємія, повязана з EGF, з інтелектуальною недостатністю"}},"xrefs":[{"source":"OMIM","code":"620368","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB90.4Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0850088","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681825","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":"EGF","name":"epidermal growth factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17671655[PMID]","hgnc":"3229","ensembl":"ENSG00000138798","omim":"131530","loci":["4q25"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"33600043[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"33600043[PMID]_ORPHANET"}],"phenotypes":null}