{"orpha":356961,"name":"SLC35A2-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG-IIm","CDG2M","Congenital disorder of glycosylation type 2m","Congenital disorder of glycosylation type IIm","CDG syndrome type IIm"],"definition":"A rare, congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-356961/","orphanet_url":"https://www.orpha.net/en/disease/detail/356961","names":{"fr":{"name":"Syndrome CDG-SLC35A2","synonyms":["Anomalie congénitale de la glycosylation type 2m","Anomalie congénitale de la glycosylation type IIm","CDG-IIm","CDG2M","Syndrome CDG type IIm","Syndrome des glycoprotéines déficientes en hydrates de carbone type IIm"],"definition":"Anomalie congénitale rare de la glycosylation caractérisée par un retard de développement global sévère ou profond, une encéphalopathie épileptique précoce, une hypotonie musculaire, une dysmorphie faciale (faciès grossier, sourcils épais, pont nasal large, lèvres épaisses, mamelons inversés), des anomalies oculaires variables et des anomalies de la morphologie du cerveau visibles à l'IRM (atrophie cérébrale, corps calleux mince)."},"de":{"name":"SLC35A2-CDG","synonyms":["CDG (Congenital Disorder of Glycosylation) Typ IIm","CDG-IIm","CDG-Syndrom Typ IIm","CDG2M","Kohlenhydrat-defizientes Glykoprotein-Syndrom 2m","Kongenitaler Defekt der Glycoproteinbiosynthese Typ 2m"]},"es":{"name":"SLC35A2-CDG","synonyms":["CDG-IIm","CDG2M","Síndrome CDG tipo IIm","Trastorno congénito de la glicosilación tipo 2m","Trastorno congénito de la glicosilación tipo IIm"],"definition":"Es un trastorno congénito de la glicosilación, poco frecuente, caracterizado por grave retraso global del desarrollo, encefalopatía epiléptica temprana, hipotonía muscular, rasgos dismórficos característicos (facies tosca, cejas gruesas, puente nasal ancho, labios gruesos, pezones invertidos), defectos oculares variables y anomalías morfológicas cerebrales (atrofia cerebral, adelgazamiento del cuerpo calloso) en imágenes de resonancia magnética."},"it":{"name":"SLC35A2-CDG","synonyms":["CDG-IIm","CDG2M","Disturbo congenito della glicosilazione, tipo 2m","Disturbo congenito della glicosilazione, tipo IIm","Sindrome CDG, tipo IIm"],"definition":"La SLC35A2-CDG è una malattia congenita della glicosilazione, caratterizzata da grave/molto grave ritardo dello sviluppo globale, encefalopatia epilettica precoce, ipotonia muscolare, dismorfismi (aspetto grossolano del viso, sopracciglia folte, sella nasale ampia, labbra carnose, capezzoli introflessi), difetti oculari variabili ed anomalie morfologiche del cervello evidenti alla RMN (atrofia cerebrale, assottigliamento del corpo calloso)."},"nl":{"name":"SLC35A2-CDG","synonyms":["CDG-IIm","CDG-syndroom type IIm","CDG2M","Congenitale defecten van de glycosylering type 2m","Congenitale defecten van de glycosylering type IIm","Congenitale glycosylatiestoornis type 2m","Congenitale glycosylatiestoornis type IIm"],"definition":"Een zeldzame, congenitale glycosylatiestoornis, gekarakteriseerd door ernstige of totale algehele ontwikkelingsachterstand, vroege epileptische encefalopathie, musculaire hypotonie, dysmorfe kenmerken (grof gelaat, dikke wenkbrauwen, brede neusbrug, dikke lippen, geïnverteerde tepels), variabele oogdefecten en afwijkingen van de morfologie van de hersenen op MRI (cerebrale atrofie, dun corpus callosum)."},"pt":{"name":"Síndrome SLC35A2 -CDG"},"pl":{"name":"SLC35A2-CDG","synonyms":["CDG2M","CDG-IIm","Wrodzone zaburzenie glikozylacji typu 2m","Zespół CDG typu 2m","Zespół CDG typu IIm"],"definition":"*SLC35A2-CDG jest wrodzonym zaburzeniem glikozylacji, które charakteryzuje się ciężkim lub głębokim całościowym opóźnieniem rozwoju, wczesną encefalopatią padaczkową, obniżeniem napięcia mięśniowego, cechami dysmorficznymi (grube rysy twarzy, grube brwi, szeroki grzbiet nosa, grube usta, wciągnięte brodawki sutkowe), różnymi wadami narządu wzroku i nieprawidłowościami strukturalnymi mózgu w MRI (zanik mózgu, ścieńczenie ciała modzelowatego)."},"cs":{"name":"SLC35A2-CDG","synonyms":["CDG syndrom, typ IIm","CDG-IIm","CDG2M","Vrozená porucha glykosylace typ 2m","Vrozená porucha glykosylace typ IIm"]},"uk":{"name":"SLC35A2-CDG","synonyms":["Синдром CDG, тип IIm","CDG2M","CDG-IIm","Вроджене порушення глікозилювання типу 2m","Вроджене порушення глікозилювання типу IIm"],"definition":"A rare, congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum)."},"zh":{"name":"SLC35A2基因相关先天性糖蛋白糖基化障碍","synonyms":["先天性糖基化障碍IIm型"],"definition":"本病是一种罕见的先天性糖基化障碍，特征是重度或极重度的全面发育迟缓，早期癫痫脑病，肌张力低下，畸形特征(粗糙面容、粗眉、宽鼻桥、厚嘴唇、乳头内陷)、可变眼缺陷和MRI上的脑形态异常(脑萎缩、胼胝体变薄)。"},"tr":{"name":"SLC35A2-CDG","synonyms":["CDG2M","CDG-IIm","CDG sendromu tip IIm","Glikozilasyon tip 2m'nin doğumsal bozukluğu","Tip IIm'nin doğumsal bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"300896","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":"attributed","validated":true},{"source":"MONDO","code":"0010478","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3806688","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12403","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":371235,"name":"Congenital disorder of glycosylation with developmental anomaly","classifications":[147,156]},{"orpha":371071,"name":"Congenital disorder of glycosylation with epilepsy as a major feature","classifications":[156,181]},{"orpha":309526,"name":"Disorder of multiple glycosylation","classifications":[150,156]},{"orpha":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SLC35A2","name":"solute carrier family 35 member A2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23561849[PMID]","hgnc":"11022","ensembl":"ENSG00000102100","omim":"314375","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"25778940[PMID]"},{"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":"2019-08-06","source":"30194038[PMID]_30746764[PMID]_30817854[PMID]_20301507[PMID]_23561849[PMID]","terms":[{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","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:0002521","label":"Hypsarrhythmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012345","label":"Abnormal glycosylation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002715","label":"Abnormality of the immune system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045060","label":"Aplasia/hypoplasia involving bones of the extremities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012348","label":"Decreased galactosylation of N-linked protein glycosylation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012363","label":"Decreased sialylation of O-linked protein glycosylation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025053","label":"Elevated brain N-acetyl aspartate level by MRS","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011314","label":"Abnormality of long bone morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012803","label":"Anisometropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007366","label":"Atrophy/Degeneration affecting the brainstem","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:0002673","label":"Coxa valga","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011185","label":"EEG with focal epileptiform discharges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003186","label":"Inverted nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003121","label":"Limb joint contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001840","label":"Metatarsus adductus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007704","label":"Paroxysmal involuntary eye movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002686","label":"Prenatal maternal abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200012","label":"Short corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012210","label":"Abnormal renal morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002418","label":"Abnormality of midbrain morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002539","label":"Cortical dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002925","label":"Elevated circulating thyroid-stimulating hormone concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030043","label":"Hip subluxation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025517","label":"Hypoplastic hippocampus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025484","label":"Increased circulating thyroglobulin concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005736","label":"Short tibia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008695","label":"Transient nephrotic syndrome","frequency":"Very rare (<4-1%)","criteria":null}]}}