{"orpha":91131,"name":"DK1-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type Im","CDG-Im","CDG1M","Carbohydrate deficient glycoprotein syndrome type Im","Congenital disorder of glycosylation type 1m","Congenital disorder of glycosylation type Im","Dolichol kinase deficiency","Hypotonia and ichthyosis due to dolichol phosphate deficiency"],"definition":"DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the <i>de novo</i> biosynthesis of dolichol phosphate. The mutations identified in the <i>DK1</i> gene led to a 96 to 98% reduction in DK activity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91131/","orphanet_url":"https://www.orpha.net/en/disease/detail/91131","names":{"fr":{"name":"DK1-CDG","synonyms":["Anomalie congénitale de la glycosylation type 1m","Anomalie congénitale de la glycosylation type Im","CDG-Im","CDG1M","Déficit en dolichol kinase","Hypotonie et ichtyose par déficit en dolichol phosphate","Syndrome CDG type Im","Syndrome des glycoprotéines déficientes en hydrates de carbone type Im"],"definition":"DK1-CDG se caractérise par une hypotonie musculaire et une ichtyose. Il a été décrit chez quatre enfants nés de deux familles consanguines. Tous sont décédés dans la petite enfance, dont deux d'une cardiomyopathie dilatée. Un déficit en dolichol kinase 1 (DK1), enzyme impliquée dans la néosynthèse du dolichol phosphate, est à l'origine de la maladie. Les mutations identifiées dans <i>DK1</i> sont responsables d'une diminution de 96 à 98 % de l'activité enzymatique de la protéine."},"de":{"name":"DK1-CDG","synonyms":["CDG (Congenital Disorder of Glycosylation) Typ Im","CDG-Im","CDG-Syndrom Typ Im","CDG1M","Dolicholkinase-Mangel","Hypotonie und Ichthyose durch Dolicholphosphat-Mangel","Kohlenhydrat-defizientes Glykoprotein-Syndrom Im","Kongenitaler Defekt der Glycoproteinbiosynthese Typ Im"],"definition":"Dieses Syndrom ist gekennzeichnet durch Muskelhypotonie und Ichthyose."},"es":{"name":"DK1-CDG","synonyms":["CDG-Im","CDG1M","Deficiencia de dolicol quinasa","Hipotonía e ictiosis por deficiencia de dolicol fosfato","Síndrome CDG tipo 1m","Síndrome CDG tipo lm","Síndrome de glicoproteínas deficientes en carbohidratos tipo Im","Trastorno congénito de la glicosilación tipo 1m","Trastorno congénito de la glicosilación tipo Im"],"definition":"Es un trastorno caracterizado por hipotonía muscular e ictiosis. Se ha descrito en cuatro niños de dos familias consanguíneas. Todos los niños afectos fallecieron en la primera infancia, dos de ellos por miocardiopatía dilatada. El síndrome está causado por una deficiencia de dolicol cinasa 1 (DK1), una enzima involucrada en la biosíntesis <i>de novo</i> de dolicol fosfato. Las mutaciones identificadas en el gen <i>DK1</i> condujeron a una reducción del 96 al 98 % en la actividad de la DK."},"it":{"name":"DK1-CDG","synonyms":["CDG-Im","CDG1M","Deficit di dolicol chinasi","Disturbo congenito della glicosilazione, tipo 1m","Disturbo congenito della glicosilazione, tipo Im","Ipotonia e ittiosi da deficit di dolicol fosfato","Sindrome CDG, tipo Im","Sindrome delle glicoproteine carenti in carboidrati, tipo Im"]},"nl":{"name":"DK1-CDG","synonyms":["CDG-Im","CDG-syndroom type Im","CDG1M","Congenitale defecten van de glycosylering type 1m","Congenitale defecten van de glycosylering type Im","Congenitale glycosylatiestoornis type 1m","Congenitale glycosylatiestoornis type Im","Dolicholkinasedeficiëntie","Hypotonie en ichthyosis als gevolg van dolicholfosfaatdeficiëntie","Koolhydraatdeficiënt glycoproteïne syndroom type Im"],"definition":"DK1-CDG wordt gekenmerkt door spierhypotonie en ichthyosis. Het werd beschreven bij vier kinderen uit twee bloedverwante families. Alle getroffen kinderen stierven in de vroege zuigelingentijd, twee door gedilateerde cardiomyopathie. Het syndroom wordt veroorzaakt door deficiëntie van dolicholkinase 1 (DK1), een enzym dat een rol speelt in <i>de novo</i> biosynthese van dolicholfosfaat. De mutaties die werden geïdentificeerd in het gen <i>DK1</i> leiden tot een reductie van DK-activiteit met 96 tot 98%."},"pt":{"name":"Síndrome CDG tipo Im"},"pl":{"name":"DK1-CDG","synonyms":["CDG1M","CDG-Im","Hipotonia i rybia łuska spowodowane niedoborem fosforanu dolicholu","Niedobór kinazy dolicholu","Wrodzone zaburzenie glikozylacji typu 1m","Wrodzone zaburzenie glikozylacji typu Im","Zespół CDG typu Im","Zespół obniżonej glikozylacji glikoprotein typu Im"]},"cs":{"name":"DK1-CDG","synonyms":["CDG syndrom, typ Im","CDG-Im","CDG1M","Syndrom karbohydrát deficientního glykoproteinu, typ Im","Vrozená porucha glykosylace, typ 1m","Vrozené poruchy glykosylace, typ Im","Deficit dolichol kinázy","Hypotonie a ichtyóza způsobené deficitem dolichol fosfátu"]},"uk":{"name":"DK1-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу Im","Синдром CDG, тип Im","CDG1M","CDG-Im","Вроджене порушення глікозилювання типу 1m","Вроджене порушення глікозилювання типу Im","Дефіцит доліхолкінази","Гіпотонія та іхтіоз через дефіцит доліхола фосфату"],"definition":"DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the <i>de novo</i> biosynthesis of dolichol phosphate. The mutations identified in the <i>DK1</i> gene led to a 96 to 98% reduction in DK activity."},"zh":{"name":"DK1-先天性糖基化疾病","synonyms":["多利酚磷酸盐缺乏所致肌张力低下和鱼鳞病"]},"tr":{"name":"DK1-CDG","synonyms":["CDG1M","CDG-Im","CDG sendromu tip Im","Dolikol kinaz eksikliği","Doğumsal glikozilasyon bozukluğu tip 1m","Doğumsal glikozilasyon bozukluğu tip Im","Karbonhidrat eksikliği olan glikoprotein sendromu tip Im","Dolikol fosfat eksikliğine bağlı hipotoni ve iktiyoz"]}},"xrefs":[{"source":"OMIM","code":"610768","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C54.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"431935004"},{"source":"MONDO","code":"0012556","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563666","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1835849","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12393","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":281244,"name":"Autosomal ichthyosis syndrome with other associated signs","classifications":[156,187]},{"orpha":371176,"name":"Congenital disorder of glycosylation with dilated cardiomyopathy","classifications":[146,156,233]},{"orpha":371200,"name":"Congenital disorder of glycosylation with skin involvement","classifications":[156,187]},{"orpha":309526,"name":"Disorder of multiple glycosylation","classifications":[150,156]}],"children":[],"genes":[{"symbol":"DOLK","name":"dolichol kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301507[PMID]","hgnc":"23406","ensembl":"ENSG00000175283","omim":"610746","loci":["9q34.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"23890587[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23890587[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-01","source":"23890587[PMID]_22242004[PMID]_23890587[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031319","label":"Cardiomyocyte hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003642","label":"Type I transferrin isoform profile","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031329","label":"Interstitial cardiac fibrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025335","label":"Delayed ability to stand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010845","label":"EEG with generalized slow activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","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:0010841","label":"Multifocal epileptiform discharges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003323","label":"Progressive muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000817","label":"Reduced eye contact","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006829","label":"Severe muscular hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}