{"orpha":53693,"name":"GRACILE syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Fellman disease","Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome"],"definition":"An inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-53693/","orphanet_url":"https://www.orpha.net/en/disease/detail/53693","names":{"fr":{"name":"Syndrome GRACILE","synonyms":["Maladie de Fellman","Syndrome de retard de croissance-aminoacidurie-cholestase-surcharge en fer-acidose lactique-mort néonatale précoce"],"definition":"Trouble mitochondrial létal héréditaire caractérisé par un retard de croissance (GR pour growth restriction), une aminoacidurie (A), une cholestase (C), une surcharge en fer (I pour iron overload), une lactocidose (L) et un décès précoce (E pour early death)."},"de":{"name":"GRACILE-Syndrom","synonyms":["Fellman-Krankheit","Wachstumsverzögerung-Aminoazidurie-Cholestase-Eisenüberladung-Laktatazidose-frühzeitiger Tod-Syndrom"],"definition":"Das GRACILE-Syndrom ist eine erbliche letale mitochondriale Störung und gekennzeichnet durch pränatale Wachstumsstörung (<i>growth restriction</i> (GR)), Aminoazidurie (A), Cholestase (C), Eisenüberladung (<i>iron overload</i> (I)), Laktazidose (L) und frühen Tod (<i>early death</i> (E))."},"es":{"name":"Síndrome GRACILE","synonyms":["Enfermedad de Fellman","Síndrome de restricción del crecimiento-aminoaciduria-colestasis-sobrecarga de hierro-acidosis láctica-muerte prematura"],"definition":"Es un trastorno mitocondrial letal hereditario caracterizado por restricción del crecimiento intrauterino (GR), aminoaciduria (A), colestasis (C), sobrecarga de hierro (I), lactacidosis (L) y muerte prematura (E)."},"it":{"name":"Sindrome GRACILE","synonyms":["Crescita limitata - aminoaciduria - colestasi - sovraccarico di ferro - morte prematura","Malattia di Fellman","Ritardo della crescita - aminoaciduria - colestasi - sovraccarico di ferro - morte prematura"],"definition":"La sindrome GRACILE è una malattia mitocondriale ereditaria, letale, caratterizzata da ridotta crescita fetale, aminoaciduria, colestasi, sovraccarico di ferro, lattacidosi, e morte precoce (acronimo di Growth Restriction, Aminoaciduria, Cholestasis, Iron overload, Lactasidosis, Early death)."},"nl":{"name":"GRACILE-syndroom","synonyms":["Groeirestrictie - aminoacidurie - cholestase - ijzerstapeling - melkzuuracidose - vroeg overlijden-syndroom","Ziekte van Fellman"],"definition":"Een erfelijke, letale mitochondriale aandoening, gekarakteriseerd door foetale groeirestrictie (GR), aminoacidurie (A), cholestase (C), ijzerstapeling (I), lactaatacidose (L) en vroeg overlijden (E)."},"pt":{"name":"Síndrome GRACILE","synonyms":["Síndrome Fellman","Síndrome de restrição de crescimento-aminoacidúria-colestase-sobrecarga de ferro-acidose láctica-morte precoce"]},"pl":{"name":"Zespół GRACILE","synonyms":["Ograniczenie wzrostu - aminoacyduria - cholestaza - przeładowanie żelazem - kwasica mleczanowa - wczesna śmierć","Choroba Fellmana","Opóźnienie wzrostu - aminoacyduria - cholestaza - przeładowanie żelazem - kwasica mleczanowa - wczesna śmierć"]},"cs":{"name":"GRACILE syndrom","synonyms":["Fellmanové nemoc","Syndrom zahrnující opoždění růstu, aminoacidurii, cholestázu, přetížení železem, laktátovou acidózu a předčasnou smrt","Syndrom zahrnující růstovou restrikci, aminoacidurii, cholestázu, přetížení železem, laktátovou acidózu a předčasnou smrt"]},"uk":{"name":"Синдром GRACILE","synonyms":["Хвороба Фельмана","Синдром затримки росту - аміноацидурії - холестазу - надлишку заліза - молочнокислого ацидозу - ранньої смерті"],"definition":"An inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)."},"zh":{"name":"GRACILE综合征","synonyms":["生长受限-氨基酸尿-胆汁淤积-铁超载-乳酸性酸中毒-早逝综合征"]},"tr":{"name":"GRACILE sendromu","synonyms":["Fellman hastalığı","Büyüme kısıtlaması-aminoasidüri-kolestaz-aşırı demir yükü-laktik asidoz-erken ölüm sendromu"]}},"xrefs":[{"source":"OMIM","code":"603358","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"510540173"},{"source":"MONDO","code":"0011308","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537934","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864002","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081684","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309136,"name":"Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes","classifications":[150,156]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[],"genes":[{"symbol":"BCS1L","name":"BCS1 ubiquinol-cytochrome c reductase complex chaperone","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12215968[PMID]","hgnc":"1020","ensembl":"ENSG00000074582","omim":"603647","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Finland","status":"Validated","source":"22970607[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Finland","status":"Not yet validated","source":"22970607[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012464","label":"Decreased transferrin saturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012465","label":"Elevated hepatic iron concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003281","label":"Increased circulating ferritin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001994","label":"Renal Fanconi syndrome","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100613","label":"Death in early adulthood","frequency":"Frequent (79-30%)","criteria":null}]}}