{"orpha":488635,"name":"Early-onset epilepsy-intellectual disability-brain anomalies syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital disorder of glycosylation due to PIGG deficiency","PIGG-CDG"],"definition":"A rare congenital disorder of glycosylation characterized by early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism, and autistic behavior have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy, and thin corpus callosum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-488635/","orphanet_url":"https://www.orpha.net/en/disease/detail/488635","names":{"fr":{"name":"Syndrome d'épilepsie à début précoce-déficience intellectuelle-anomalies cérébrales","synonyms":["Anomalie congénitale de la glycosylation par déficit en PIGG","PIGG-CDG"],"definition":"Anomalie congénitale rare de la glycosylation caractérisée par l'apparition précoce d'une hypotonie, d'un retard de développement global sévère, d'une déficience intellectuelle et de crises convulsives. On a également rapporté une ataxie, une légère dysmorphie faciale et un comportement autistique. Les résultats de l'IRM cérébrale sont variables et incluent une atrophie cérébrale, une hypoplasie/atrophie cérébelleuse et un corps calleux court."},"de":{"name":"Epilepsie mit frühem Beginn-Intelligenzminderung-Gehirnanomalien-Syndrom","synonyms":["PIGG-CDG"],"definition":"Eine kongenitale Glykosylierungsstörung, die durch früh einsetzende Hypotonie, schwere globale Entwicklungsverzögerung, Intelligenzminderung und Krampfanfälle gekennzeichnet ist. Es wurde auch über Ataxie, leichte Gesichtsdysmorphien und autistisches Verhalten berichtet. Die MRT-Befunde des Gehirns sind variabel und umfassen zerebrale Atrophie, Kleinhirnhypoplasie/-atrophie und ein dünnes Corpus Callosum."},"es":{"name":"Síndrome de epilepsia-discapacidad intelectual-anomalías cerebrales de inicio precoz","synonyms":["PIGG-CDG","Trastorno congénito de la glicosilación por deficiencia de PIGG"],"definition":"Es un trastorno congénito y poco frecuente de la glicosilación caracterizado por un inicio temprano de hipotonía, grave retraso global del desarrollo, discapacidad intelectual y crisis epilépticas. También se ha descrito ataxia, leve dismorfia facial y comportamiento autista. Los hallazgos de la resonancia magnética cerebral son variables, incluyendo atrofia cerebral, hipoplasia/atrofia cerebelosa y adelgazamiento del cuerpo calloso."},"it":{"name":"Sindrome epilessia ad esordio precoce-disabilità intellettiva-anomalie cerebrali","definition":"Si tratta di una malattia congenita rara della glicosilazione, caratterizzata da ipotonia ad esordio precoce, grave ritardo dello sviluppo globale, disabilità intellettiva e crisi epilettiche. I pazienti possono presentare anche atassia, lievi dismorfismi facciali e tratti autistici. La RMN cerebrale evidenzia quadri variabili di atrofia cerebrale, ipoplasia/atrofia cerebellare e assottigliamento del corpo calloso."},"nl":{"name":"Epilepsie met vroege aanvang - intellectuele achterstand - hersenanomalieën-syndroom","synonyms":["Congenitale defecten van de glycosylering als gevolg van PIGG-deficiëntie","Congenitale glycosylatiestoornis als gevolg van PIGG-deficiëntie","PIGG-CDG"],"definition":"Een zeldzame congenitale glycosylatiestoornis, gekarakteriseerd door vroege aanvang van hypotonie, ernstige algehele ontwikkelingsachterstand, intellectuele beperking, en insulten. Ataxie, milde faciale dysmorfie, en autistisch gedrag werden ook reeds gerapporteerd. Bevindingen bij MRI van hersenen zijn variabel en omvatten onder meer cerebrale atrofie, cerebellaire hypoplasie/atrofie, en dun corpus callosum."},"pt":{"name":"Síndrome de epilepsia de início precoce-perturbação do desenvolvimento intelectual-anomalias cerebrais"},"pl":{"name":"Zespół epilepsji o wczesnym początku, niepełnosprawności intelektualnej i wad mózgu","synonyms":["Wrodzone zaburzenie glikolizacji z powodu niedoboru PIGG"]},"cs":{"name":"Syndrom zahrnující epilepsii s časným nástupem, mentální retardaci a anomálie mozku","synonyms":["PIGG-CDG","Vrozená porucha glykosylace způsobená deficitem PIGG"]},"uk":{"name":"Синдром ранньої епілепсії-інтелектуальної недостатності-аномалій розвитку головного мозку","synonyms":["Вроджене порушення глікозилювання внаслідок дефіциту PIGG","PIGG-CDG"],"definition":"A rare congenital disorder of glycosylation characterized by early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism, and autistic behavior have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy, and thin corpus callosum."},"zh":{"name":"早发性癫痫智力障碍大脑发育不良综合征","synonyms":["PIGG缺乏导致的先天性糖基化紊乱"],"definition":"一种罕见的先天性糖基化紊乱，其特点是早期出现肌张力低下、严重的全面发育迟缓、智力障碍和癫痫发作。共济失调、轻度面部畸形和自闭症行为也有报道。脑核磁共振成像的结果有多种，包括脑萎缩、小脑发育不全/萎缩和薄型胼胝体。"},"tr":{"name":"Erken başlangıçlı epilepsi-zihinsel yetersizlik-beyin anomalileri sendromu","synonyms":["PIGG-CDG","PIGG eksikliğine bağlı doğumsal glikozilasyon bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"616917","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C54.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014832","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14832","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567479","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":309515,"name":"Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation","classifications":[150,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PIGG","name":"phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26996948[PMID]_28581210[PMID]","hgnc":"25985","ensembl":"ENSG00000174227","omim":"616918","loci":["4p16.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"26996948[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26996948[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-13","source":"31414351[PMID]_28581210[PMID]_26996948[PMID]","terms":[{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030047","label":"Abnormality of lateral ventricle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","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:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002329","label":"Drowsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011193","label":"EEG with focal spikes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001187","label":"Hyperextensibility of the finger joints","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010510","label":"Hypermobility of toe joints","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008081","label":"Pes valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007258","label":"Severe demyelination of the white matter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Occasional (29-5%)","criteria":null}]}}