{"orpha":280071,"name":"ALG11-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type Ip","CDG-Ip","CDG1P","Carbohydrate deficient glycoprotein syndrome type Ip","Congenital disorder of glycosylation type 1p","Congenital disorder of glycosylation type Ip"],"definition":"A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene <i>ALG11</i> (13q14.3).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280071/","orphanet_url":"https://www.orpha.net/en/disease/detail/280071","names":{"fr":{"name":"ALG11-CDG","synonyms":["Anomalie congénitale de la glycosylation type 1p","Anomalie congénitale de la glycosylation type Ip","CDG-Ip","CDG1P","Syndrome CDG type Ip","Syndrome des glycoprotéines déficientes en hydrates de carbone Ip"],"definition":"Forme d'anomalie congénitale de la glycosylation N caractérisée par une dysmorphie faciale (microcéphalie, front haut, implantation capillaire basse sur la nuque, strabisme), une hypotonie, un retard de croissance, des crises convulsives réfractaires, un retard de développement, des vomissements persistants et des hémorragies gastriques. D'autres caractéristiques peuvent être observées, notamment des anomalies des coussinets adipeux, des mamelons inversés et des oscillations de la température corporelle. La maladie est causée par des mutations du gène <i>ALG11</i> (13q14.3)."},"de":{"name":"ALG11-CDG","synonyms":["CDG (Congenital Disorder of Glycosylation) Typ Ip","CDG-Ip","CDG-Syndrom Typ 1p","CDG-Syndrom Typ IP","CDG1P","Glykosylierungs-Krankheit, kongenitale, Typ Ip","Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ 1p","Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ip"]},"es":{"name":"ALG11-CDG","synonyms":["CDG-Ip","CDG1P","Síndrome CDG tipo 1p","Síndrome de glicoproteínas deficientes en carbohidratos tipo Ip","Trastorno congénito de la glicosilación tipo 1p","Trastorno congénito de la glicosilación tipo Ip"],"definition":"Es un trastorno congénito de la N-glicosilación caracterizado por dismorfia facial (microcefalia, frente alta, línea posterior de implantación del cabello baja, estrabismo), hipotonía, fallo de medro, convulsiones intratables, retraso en el desarrollo, vómitos persistentes y sangrado gástrico. Adicionalmente se pueden observar otras características, tales como anomalías en las almohadillas de grasa, pezones invertidos y oscilación de la temperatura corporal. La enfermedad está causada por mutaciones en el gen <i>ALG11</i> (13q14.3)."},"it":{"name":"ALG11-CDG","synonyms":["CDG-Ip","CDG1P","Disturbo congenito della glicosilazione, tipo 1p","Disturbo congenito della glicosilazione, tipo Ip","Sindrome CDG, tipo Ip","Sindrome delle glicoproteine carenti in carboidrati, tipo Ip"],"definition":"L'ALG11-CDG è una malattia congenita della N-glicosilazione, caratterizzata da dismorfismi facciali (microcefalia, fronte alta, impianto basso dei dei capelli sulla nuca, strabismo), ipotonia, ritardo della crescita, crisi epilettiche non trattabili, ritardo dello sviluppo, vomito persistente ed emorragie gastriche. Altri segni clinici sono le anomalie dei cuscinetti di grasso, i capezzoli introflessi e le oscillazioni della temperatura corporea. La malattia è causata dalle mutazioni nel gene ALG11 (13q14.3)."},"nl":{"name":"ALG11-CDG","synonyms":["CDG1P","Congenitale defecten van de glycosylering type 1p","Congenitale defecten van de glycosylering type Ip","Congenitale glycosylatiestoornis type 1p","Congenitale glycosylatiestoornis type Ip","Koolhydraatdeficiënt glycoproteïne syndroom type Ip","CDG-Ip","CDG-syndroom type Ip"],"definition":"Een vorm van congenitale stoornis van N-glycosylatie, gekarakteriseerd door faciale dysmorfie (microcefalie, hoog voorhoofd, lage achterste haarlijn, strabisme), hypotonie, groeifalen, refractaire insulten, ontwikkelingsachterstand, aanhoudend braken en maagbloeding. Bijkomende kenmerken die eventueel kunnen waargenomen worden, zijn onder meer anomalieën van vetkussens, inversie van de tepels, en oscillatie van de lichaamstemperatuur. De ziekte wordt veroorzaakt door mutaties in het gen <i>ALG11</i> (13q14.3)."},"pt":{"name":"Síndrome de CDG tipo Ip","synonyms":["CDG1P","Doença congénita de glicosilação tipo 1p","Doença congénita de glicosilação tipo Ip","Síndrome de CDG tipo 1P","Síndrome de glicoproteina deficiente em carbohidratos tipo Ip"]},"pl":{"name":"ALG11-CDG","synonyms":["CDG1P","CDG-Ip","Wrodzone zaburzenie glikozylacji typu 1p","Wrodzone zaburzenie glikozylacji typu Ip","Zespół CDG typu 1p","Zespół obniżonej glikozylacji glikoprotein typu Ip"]},"cs":{"name":"Vrozená porucha glykosylace, typ 1p","synonyms":["CDG syndrom, typ Ip","CDG-Ip","CDG1P","ALG11-CDG","Vrozená porucha glykosylace, typ Ip","Syndrom poruchy vazby sacharidů na glykoproteinech, typ Ip"]},"uk":{"name":"ALG11-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу Ip","Синдром CDG, тип Ip","CDG1P","CDG-Ip","Вроджене порушення глікозилювання типу 1p","Вроджене порушення глікозилювання типу Ip"],"definition":"A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene <i>ALG11</i> (13q14.3)."},"zh":{"name":"ALG11-先天性糖基化障碍","synonyms":["糖基化缺陷糖蛋白综合征Ip型"]},"tr":{"name":"ALG11-CDG","synonyms":["CDG1P","CDG-Ip","CDG sendromu tip Ip","Doğumsal glikozilasyon bozukluğu tip 1p","Doğumsal glikozilasyon bozukluğu Ip","Karbonhidrat eksikliği olan glikoprotein sendromu tip Ip"]}},"xrefs":[{"source":"OMIM","code":"613661","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C54.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1085343875"},{"source":"MONDO","code":"0013349","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150913","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12396","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":371071,"name":"Congenital disorder of glycosylation with epilepsy as a major feature","classifications":[156,181]},{"orpha":309347,"name":"Disorder of protein N-glycosylation","classifications":[150,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ALG11","name":"ALG11 alpha-1,2-mannosyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20080937[PMID]","hgnc":"32456","ensembl":"ENSG00000253710","omim":"613666","loci":["13q14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"28122681[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28122681[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-18","source":"28122681[PMID]_3067669[PMID]_22213132[PMID]_20080937[PMID]_20301507[PMID]","terms":[{"hpo":"HP:0003160","label":"Abnormal isoelectric focusing of serum transferrin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012760","label":"Reduced social responsiveness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","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:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009124","label":"Abnormal adipose tissue morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011842","label":"Abnormality of skeletal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012762","label":"Cerebral white matter atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008000","label":"Decreased corneal reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010851","label":"EEG with burst suppression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002572","label":"Episodic vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002282","label":"Gray matter heterotopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002375","label":"Hypokinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003186","label":"Inverted nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002509","label":"Limb hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002179","label":"Opisthotonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005968","label":"Temperature instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012704","label":"Widened subarachnoid space","frequency":"Occasional (29-5%)","criteria":null}]}}