{"orpha":79237,"name":"Galactokinase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GALK deficiency","GALK deficiency galactosemia","Galactokinase deficiency galactosemia","Galactosemia type II","Type 2 galactosemia","Type II galactosemia","Galactosemia type 2"],"definition":"A rare galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, although neonatal elevation of transaminases, bleeding diathesis and encephalopathy might be present in addition to cataract.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79237/","orphanet_url":"https://www.orpha.net/en/disease/detail/79237","names":{"fr":{"name":"Déficit en galactokinase","synonyms":["Déficit en GALK","Galactosémie de type 2","Galactosémie de type II","Galactosémie par déficit en GALK","Galactosémie par déficit en galactokinase"],"definition":"La galactosémie par déficit en galactokinase est une forme rare et légère de galactosémie caractérisée par une cataracte à début précoce et par l'absence des signes habituels de la galactosémie classique (difficultés alimentaires, croissance staturo-pondérale faible, léthargie et ictère)."},"de":{"name":"Galaktokinase-Mangel","synonyms":["Galaktosämie Typ II","Galaktokinase-Defizienz","GALK-Mangel","Galaktokinase-Mangel, galaktosämischer","Galaktosämie Typ 2"],"definition":"Der Galaktokinase-Mangel ist eine seltene, milde Form der Galaktosämie (s. dort) und gekennzeichnet durch früh auftretende Katarakt und das Fehlen der üblichen Zeichen der klassischen Galaktosämie (Fütterprobleme, schlechte Gewichtszunahme, verlangsamtes Wachstum, Lethargie Ikterus)."},"es":{"name":"Deficiencia de galactoquinasa","synonyms":["Galactosemia por deficiencia de GALK","Galactosemia tipo II","Deficiencia de GALK","Galactosemia por deficiencia de galactoquinasa","Galactosemia tipo 2"],"definition":"Es una forma rara leve de galactosemia caracterizada por una aparición temprana de cataratas y ausencia de los signos clásicos de la galacatosemia, como son problemas de alimentación, aumento insuficiente de peso y de crecimiento, letargo e ictericia."},"it":{"name":"Deficit di galattochinasi","synonyms":["Galattosemia da deficit di GALK","Deficit di GALK","Galattosemia da deficit di galattochinasi","Galattosemia tipo 2","Galattosemia tipo II"],"definition":"Il deficit di galattochinasi è una forma rara e lieve di galattosemia (si veda questo termine) caratterizzata dall'esordio precoce della cataratta e dall'assenza dei segni caratteristici della galattosemia classica, come le difficoltà alimentari, il ritardo della crescita, lo scarso guadagno di peso e l'ittero."},"nl":{"name":"Deficiëntie van galactokinase","synonyms":["Galactosemie type 2","Type II galactosemie","Type 2 galactosemie","GALK-deficiëntie","Galactosemie door GALK-deficiëntie","Galactosemie door deficiëntie van galactokinase","Galactosemie type II"],"definition":"Een zeldzame, milde vorm van galactosemie, gekarakteriseerd door vroege aanvang van cataract en afwezigheid van de gebruikelijke tekenen van klassieke galactosemie, i.e. voedingsproblemen, ondermaatse gewichtstoename en groei, lethargie, en geelzucht."},"pt":{"name":"Deficiência de galactocinase","definition":"A deficiência de galactoquinase é uma forma ligeira rara de galactosemia (ver este termo) caracterizada pelo aparecimento precoce de cataratas e ausência dos sinais habituais de galactosemia clássica, ou seja, dificuldades de alimentação, má evolução estaturo-ponderal, letargia e icterícia."},"pl":{"name":"Niedobór galaktokinazy","synonyms":["Galaktozemia typu 2","Galaktozemia z niedoboru galaktokinazy","GALK-D","Niedobór GALK"]},"cs":{"name":"Deficit galaktokinázy","synonyms":["Deficit GALK","GALK-D","Galaktosémie, typ 2","Galaktosémie způsobená deficitem galaktokinázy"]},"uk":{"name":"Дефіцит галактокінази","synonyms":["Галактоземія галактокінази","Галактоземія 2 типу","Дефіцит ГАЛК","GALK-D"],"definition":"A rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice."},"zh":{"name":"半乳糖激酶缺乏症","synonyms":["半乳糖激酶缺乏性半乳糖血症"]},"tr":{"name":"Galaktokinaz eksikliği","synonyms":["GALK-D","GALK eksikliği","Galaktozemi tip 2","Galaktokinaz eksikliği galaktozemi"]}},"xrefs":[{"source":"OMIM","code":"230200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C51.41","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1173858031"},{"source":"MONDO","code":"0009255","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268155","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2422","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":352,"name":"Galactosemia","classifications":[150,156,188,189]}],"children":[],"genes":[{"symbol":"GALK1","name":"galactokinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"10521295[PMID]","hgnc":"4118","ensembl":"ENSG00000108479","omim":"604313","loci":["17q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"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":"2021-01-15","source":"31575690[PMID]_32809518[PMID]_12705493[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012024","label":"Hypergalactosemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0410061","label":"Increased level of galactitol in plasma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0410062","label":"Increased level of galactitol in urine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100018","label":"Nuclear cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011098","label":"Speech apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004431","label":"Complement deficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012768","label":"Neonatal asphyxia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002361","label":"Psychomotor deterioration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null}]}}