{"orpha":1551,"name":"Familial benign copper deficiency","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Familial benign hypocupremia"],"definition":"Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1988.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1551/","orphanet_url":"https://www.orpha.net/en/disease/detail/1551","names":{"fr":{"name":"Déficit familial bénin en cuivre","synonyms":["Hypocuprémie bénigne familiale"],"definition":"Le déficit familial bénin en cuivre est un trouble rare de l'absorption et du transport des minéraux, caractérisé par une hypocuprémie qui se manifeste par un retard de croissance staturo-pondérale, une légère anémie, des convulsions répétées, une hypotonie et une peau séborrhéique. Une saillie fémorale et tibiale est aussi notée en radiographie. Les signes sont réversibles ou s'améliorent avec une supplémentation orale en cuivre. Il n'y a pas eu de description ultérieure de la maladie dans la littérature depuis 1988."},"de":{"name":"Kupfermangel, benigner familiärer","synonyms":["Hypokuprämie, benigne familiäre"],"definition":"Der familiäre benigne Kupfermangel ist eine seltene Störung der Mineralabsorption und des -transports, die durch eine Hypocuprämie gekennzeichnet ist, die sich als Gedeihstörung, leichte Anämie, wiederholte Krampfanfälle, Hypotonie und seborrhoische Haut manifestiert. In Röntgenaufnahmen kann sich eine Spornbildung an Femur und Tibia präsentieren. Die Symptome sind reversibel oder verbessern sich durch die Einnahme von oralem Kupfer. Seit 1988 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Deficiencia de cobre familiar benigna","synonyms":["Hipocupremia benigna familiar"],"definition":"La deficiencia de cobre familiar benigna es un trastorno poco frecuente de absorción y transporte de minerales caracterizado por hipocupremia, que se manifiesta como falta de crecimiento, anemia leve, crisis repetidas, hipotonía ydermatitis seborreica. También se ha observado en imágenes radiológicas la formación de osteofitos en fémur y tibia. Los síntomas son reversibles o mejoran con el suplemento de cobre por vía oral. Desde 1.988 no se han descrito nuevos casos en la literatura."},"it":{"name":"Deficit familiare benigno di rame","definition":"Il deficit familiare benigno di rame è una malattia rara dell'assorbimento e del trasporto dei minerali; è caratterizzata da ipocupremia che si manifesta con ritardo della crescita, lieve anemia, crisi epilettiche recidivanti, ipotonia e cute seborroica. Le radiografie evidenziano speroni sul femore e sulla tibia. I sintomi sono reversibili oppure migliorano con la somministrazione di integratori a base di rame per via orale. Non sono stati descritti nuovi casi dopo il 1988."},"nl":{"name":"Familiale goedaardige koperdeficiëntie","synonyms":["Familiale goedaardige hypocupremie"],"definition":"Familiale goedaardige koperdeficiëntie is een zeldzame stoornis van de absorptie en het transport van mineralen en wordt gekarakteriseerd door hypocupremie dat zich manifesteert als groeiachterstand, milde anemie, herhaalde insulten, hypotonie, en seborroïsche huid. Botuitsteeksels op femur (dijbeen) en tibia (scheenbeen) worden ook opgemerkt na radiografische beeldvorming. De symptomen zijn omkeerbaar of verbeteren bij orale inname van kopersupplementen. Sinds 1988 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Deficiência de cobre familiar benigna"},"pl":{"name":"Rodzinny łagodny Niedobór miedzi","synonyms":["Familial benign hypocupremia"]},"cs":{"name":"Benigní familiární deficit mědi","synonyms":["Familial benign hypocupremia"]},"uk":{"name":"Сімейний доброякісний дефіцит міді","synonyms":["Сімейна доброякісна гіпокупремія"],"definition":"Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1988."},"zh":{"name":"家族性良性铜缺乏症","synonyms":["家族性良性铜缺乏症"]},"tr":{"name":"Ailesel selim bakır eksikliği","synonyms":["Ailesel selim hipokupremi"]}},"xrefs":[{"source":"OMIM","code":"121270","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"580108812"},{"source":"MONDO","code":"0007368","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535468","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1852576","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1522","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309839,"name":"Disorder of copper metabolism","classifications":[150,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"2978614[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2978614[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011967","label":"Decreased circulating copper concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008060","label":"Aplasia/Hypoplasia of the fovea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005019","label":"Diaphyseal thickening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002234","label":"Early balding","frequency":"Occasional (29-5%)","criteria":null}]}}