{"orpha":79239,"name":"Classic galactosemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic disorder of galactose metabolism characterized by onset of life-threatening disease triggered by breastfeeding or the ingestion of lactose/galactose-containing formula. Infants usually develop feeding difficulties, lethargy, and severe liver disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79239/","orphanet_url":"https://www.orpha.net/en/disease/detail/79239","names":{"fr":{"name":"Galactosémie classique","definition":"La galactosémie classique est une maladie métabolique sévère à risque vital et à début néonatal. Elle se manifeste en général chez le nourrisson par des difficultés alimentaires, une léthargie et une atteinte hépatique sévère."},"de":{"name":"Galaktosämie, klassische","definition":"Die klassische Galaktosämie ist eine lebensbedrohliche Stoffwechselkrankheit mit Beginn in der Neugeborenenzeit. In der Regel entwickeln die Neugeborenen Fütterprobleme, Lethargie und schwere Leberfunktionsstörung."},"es":{"name":"Galactosemia clásica","definition":"Es una enfermedad metabólica muy grave con inicio en el periodo neonatal. Los bebés suelen presentar problemas de alimentación, letargo y una dolencia hepática grave."},"it":{"name":"Galattosemia classica","definition":"La galattosemia classica è una malattia metabolica potenzialmente fatale ad esordio in epoca neonatale. I neonati di solito presentano difficoltà alimentari, letargia e grave epatopatia."},"nl":{"name":"Klassieke galactosemie","definition":"Een levensbedreigende stofwisselingsziekte met aanvang in de neonatale periode. Zuigelingen ontwikkelen meestal voedingsproblemen, lethargie, en ernstige leverziekte."},"pt":{"name":"Deficiência de galactose-1-fosfate uridiltransferase","definition":"A galactosemia clássica é uma doença metabólica potencialmente fatal com início no período neonatal. As crianças costumam desenvolver dificuldades de alimentação, letargia, e doença hepática grave."},"pl":{"name":"Galaktozemia klasyczna","synonyms":["Galaktozemia typu 1","Niedobór GALT","Niedobór urydylotransferazy galaktozo-1-fosforanowej"]},"cs":{"name":"Klasická galaktosémie","synonyms":["Deficit GALT","Deficit galaktóza-1-fosfát uridyltransferázy","Galaktosémie, typ 1"]},"uk":{"name":"Класична галактоземія","synonyms":["Дефіцит галактозо-1-фосфат-уридилтрансферази","Галактоземія типу 1","Дефіцит ГАЛТ"],"definition":"A life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease."},"zh":{"name":"典型半乳糖血症","synonyms":["半乳糖-1-磷酸尿苷酰转移酶缺乏"]},"tr":{"name":"Klasik galaktozemi","synonyms":["GALT eksikliği","Galaktozemi tip 1","Galaktoz-1-fosfat üridiltransferaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"230400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C51.40","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2011000259"},{"source":"MONDO","code":"0009258","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268151","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13639","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":723094,"name":"Galactose-1-phosphate uridylyltransferase deficiency","classifications":[150,156,183,188,189]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":399853,"name":"Rare female infertility due to an anomaly of ovarian function","classifications":[201]},{"orpha":400022,"name":"Rare female infertility due to an anomaly of ovarian function of genetic origin","classifications":[156]},{"orpha":485382,"name":"Rare genetic premature ovarian failure","classifications":[156]},{"orpha":95710,"name":"Rare non-acquired premature ovarian failure","classifications":[193,205]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GALT","name":"galactose-1-phosphate uridylyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301691[PMID]","hgnc":"4135","ensembl":"ENSG00000213930","omim":"606999","loci":["9p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.1,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Netherlands","status":"Validated","source":"15841485[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.3,"area":"United Kingdom","status":"Validated","source":"8215542[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.3,"area":"Ireland","status":"Validated","source":"8215542[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"Japan","status":"Validated","source":"6468444[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"China","status":"Validated","source":"10457302[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":20.8,"area":"Iran, Islamic Republic of","status":"Validated","source":"23113108[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-18","source":"31029175[PMID]_20301691[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030272","label":"Abnormal erythrocyte enzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003251","label":"Male infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002345","label":"Action tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000868","label":"Decreased fertility in females","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030353","label":"Decreased serum insulin-like growth factor 1","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012537","label":"Food intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006977","label":"Grammar-specific speech disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000876","label":"Oligomenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000869","label":"Secondary amenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009088","label":"Speech articulation difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011446","label":"Abnormality of higher mental function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020110","label":"Bone fracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002311","label":"Incoordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100512","label":"Low levels of vitamin D","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011098","label":"Speech apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Very rare (<4-1%)","criteria":null}]}}