{"orpha":86816,"name":"Congenital analbuminemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86816/","orphanet_url":"https://www.orpha.net/en/disease/detail/86816","names":{"fr":{"name":"Analbuminémie congénitale","definition":"L'analbuminémie congénitale (AC) est caractérisée par l'absence ou la diminution importante de l'albumine sérique humaine circulante (ASH)."},"de":{"name":"Analbuminämie, kongenitale","definition":"Die Kongenitale Analbuminämie (CAA) ist gekennzeichnet durch Fehlen oder dramatische Verminderung des zirkulierenden Serum-Albumins (HSA)."},"es":{"name":"Analbuminemia congénita","definition":"La analbuminemia congénita (AAC) se caracteriza por la reducción drástica o ausencia de la circulación de albúmina sérica humana (ASH)."},"it":{"name":"Analbuminemia congenita"},"nl":{"name":"Congenitale analbuminemie","definition":"Congenitale analbuminemie (CAA) wordt gekenmerkt door afwezigheid of uitgesproken reductie van circulerend humaan serumalbumine (HSA)."},"pt":{"name":"Analbuminemia congénita"},"pl":{"name":"Wrodzona analbuminemia"},"cs":{"name":"Vrozená analbuminémie"},"uk":{"name":"Вроджена альбумінемія","definition":"Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA)."},"zh":{"name":"先天性无白蛋白血症"},"tr":{"name":"Doğumsal analbüminemi"}},"xrefs":[{"source":"OMIM","code":"616000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5D0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1473391809"},{"source":"MONDO","code":"0014449","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305253","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13056","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":158300,"name":"Rare genetic hematologic disease","classifications":[156]},{"orpha":97992,"name":"Rare hematologic disease","classifications":[194]}],"children":[],"genes":[{"symbol":"ALB","name":"albumin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"7937781[PMID]_15996651[PMID]","hgnc":"399","ensembl":"ENSG00000163631","omim":"103600","loci":["4q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-08","source":"31057599[PMID]_29214768[PMID]_29981851[PMID]","terms":[{"hpo":"HP:0000969","label":"Edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003075","label":"Hypoproteinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005413","label":"Increased alpha-globulin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000282","label":"Facial edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030851","label":"Low pulse pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002783","label":"Recurrent lower respiratory tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005268","label":"Spontaneous abortion","frequency":"Occasional (29-5%)","criteria":null}]}}