{"orpha":370927,"name":"SSR4-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type Iy","CDG-Iy","CDG1Y","Carbohydrate deficient glycoprotein syndrome type Iy","Congenital disorder of glycosylation type 1y","Congenital disorder of glycosylation type Iy"],"definition":"SSR4-CDG is a form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene <i> SSR4</i> (Xq28).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370927/","orphanet_url":"https://www.orpha.net/en/disease/detail/370927","names":{"fr":{"name":"SSR4-CDG","synonyms":["Anomalie congénitale de la glycosylation type 1y","Anomalie congénitale de la glycosylation type Iy","CDG-Iy","CDG1Y","Syndrome CDG type Iy","Syndrome des glycoprotéines déficientes en hydrates de carbone type Iy"],"definition":"Forme d'anomalies congénitales de la N-glycosylation caractérisées par des troubles neurologiques (retard global de développement du langage, des aptitudes sociales et de motricité fine et globale, déficience intellectuelle, hypotonie, microcéphalie, crises convulsives/épilepsie), une dysmorphie faciale (yeux enfoncés dans les orbites, grandes oreilles, hypoplasie du vermillon de la lèvre supérieure, grande bouche et dents très espacées), des difficultés à s'alimenter souvent dues à des difficultés de mastication et à une aversion pour les aliments de certaines textures, un retard de croissance staturo-pondérale, des anomalies gastro-intestinales (reflux ou vomissements) et un strabisme. La maladie est causée par des mutations du gène <i>SSR4</i> (Xq28)."},"de":{"name":"SSR4-CDG","synonyms":["CDG (Congenital Disorder of Glycosylation) Typ 1y","CDG-Iy","CDG-Syndrom Typ Iy","CDG1Y","Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ Iy","Kongenitaler Defekt der Glycoproteinbiosynthese Typ Iy"]},"es":{"name":"SSR4-CDG","synonyms":["Trastorno congénito de la glicosilación tipo Iy","CDG-Iy","CDG1Y","Síndrome CDG tipo Iy","Síndrome de glicoproteínas deficientes en carbohidratos tipo Iy","Trastorno congénito de la glicosilación tipo 1y"],"definition":"Es un tipo de trastorno congénito de la N-glicosilación caracterizado por anomalías neurológicas (retraso global en el desarrollo del lenguaje, de las habilidades sociales y motor fino y grueso, discapacidad intelectual, hipotonía, microcefalia, convulsiones / epilepsia), dismorfia facial (ojos hundidos, orejas grandes, bermellón del labio superior hipoplásico, boca grande y dientes muy separados) problemas en la alimentación debidos, a menudo, a dificultades para masticar y aversión a ciertas texturas de los alimentos, fallo de medro, anomalías gastrointestinales (reflujo o vómitos) y estrabismo. La enfermedad está causada por mutaciones en el gen <i>SSR4</i> (Xq28)."},"it":{"name":"SSR4-CDG","synonyms":["CDG-Iy","CDG1Y","Disturbo congenito della glicosilazione, tipo 1y","Disturbo congenito della glicosilazione, tipo Iy","Sindrome CDG, tipo Iy","Sindrome della glicoproteine carenti in carboidrati, tipo Iy"],"definition":"La SSR4-CDG è una malattia congenita della N-glicosilazione, caratterizzata da anomalie neurologiche (ritardo dello sviluppo globale del linguaggio, delle competenze sociali e della motricità fine e grossolana, disabilità intellettiva, ipotonia, microcefalia, crisi epilettiche/epilessia), dismorfismi facciali (occhi infossati, orecchie grandi, ipoplasia della porzione mucosa del labbro superiore, bocca grande con denti iperdistanziati), difficoltà di alimentazione dovute ai problemi della masticazione e all'avversione verso i cibi con determinate consistenze, ritardo della crescita, anomalie gastrointestinali (reflusso o vomito) e strabismo. La malattia è causata da alcune mutazioni nel gene <i>SSR4</i> (Xq28)."},"nl":{"name":"SSR4-CDG","synonyms":["CDG-Iy","CDG-syndroom type Iy","CDG1Y","Congenitale defecten van de glycosylering type 1y","Congenitale defecten van de glycosylering type Iy","Congenitale glycosylatiestoornis type 1y","Congenitale glycosylatiestoornis type Iy","Koolhydraatdeficiënt glycoproteïne-syndroom type Iy"],"definition":"SSR4-CDG is een vorm van congenitale stoornis van N-glycosylatie die gekarakteriseerd wordt door neurologische anomalieën (algehele ontwikkelingsachterstand van taal, sociale vaardigheden, en fijne en grove motoriek, intellectuele achterstand, hypotonie, microcefalie, insulten/epilepsie), faciale dysmorfie (diepliggende ogen, grote oren, hypoplastisch vermiljoen van de bovenlip, grote mond met ver uit elkaar staande tanden), voedingsproblemen vaak te wijten aan moeilijkheden met kauwen en aversie voor voedsel met bepaalde textuur, groeiachterstand, gastro-intestinale anomalieën (reflux of braken) en strabisme. De ziekte wordt veroorzaakt door mutaties in het gen <i>SSR4</i> (Xq28)."},"pt":{"name":"Glicogenose tipo Iy","synonyms":["CDG-Iy","CDG1Y","Doença congénita da glicosilação tipo 1y","Doença congénita da glicosilação tipo Iy","Síndrome CDG Iy","Síndrome de glicoproteína deficiente em carbohidratos tipo Iy"]},"pl":{"name":"SSR4-CDG","synonyms":["CDG1Y","CDG-Iy","Wrodzone zaburzenie glikozylacji typu 1y","Wrodzone zaburzenie glikozylacji typu Iy","Zespół CDG typu Iy","Zespół obniżonej glikozylacji glikoprotein typu Iy"]},"cs":{"name":"SSR4-CDG","synonyms":["CDG syndrom, typ Iy","CDG-Iy","CDG1Y","Carbohydrate deficient glycoprotein syndrom type Iy","Vrozená porucha glykosylace, typ 1y","Vrozená porucha glykosylace, typ Iy","Glykoproteinový syndrom deficitu sacharidů typu Iy"]},"uk":{"name":"SSR4-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу Iy","Синдром CDG, тип Iy","CDG1Y","CDG-ІІ","Вроджене порушення глікозилювання типу 1y","Вроджене порушення глікозилювання типу Iy"],"definition":"SSR4-CDG is a form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene <i> SSR4</i> (Xq28)."},"zh":{"name":"SSR4基因型先天性糖基化障碍","synonyms":["缺糖基糖蛋白综合征Iy型"],"definition":"先天性糖基化障碍1y型是一种N-连锁糖基化的先天性疾病，其特征是神经系统异常(语言、社交技能和精细、大运动的全面发育迟缓，智力障碍，肌张力减退，小头畸形，癫痫/癫痫发作)、面部畸形(眼睛深陷，耳朵大，上唇朱砂发育不良，大嘴伴牙齿分布宽)、咀嚼困难和厌恶特定质地食物所致喂养困难、体重增长不良、胃肠道异常（反流或呕吐）和斜视。本病是由基因SSR4(Xq28)突变引起的。"},"tr":{"name":"SSR4-CDG","synonyms":["CDG1Y","CDG-Iy","CDG sendromu tip Iy","Glikozilasyon Tip 1y'nin doğumsal bozukluğu","Glikozilasyon tipi Iy'nin doğumsal bozukluğu","Karbonhidrat eksikliği olan glikoprotein sendromu tip Iy"]}},"xrefs":[{"source":"OMIM","code":"300934","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":"attributed","validated":true},{"source":"MONDO","code":"0010490","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4012395","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12405","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"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":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"SSR4","name":"signal sequence receptor subunit 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24218363[PMID]","hgnc":"11326","ensembl":"ENSG00000180879","omim":"300090","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"26264460[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26264460[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-09","source":"26264460[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011339","label":"Abnormality of upper lip vermillion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002518","label":"Abnormal periventricular white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001331","label":"Absent septum pellucidum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003256","label":"Abnormality of the coagulation cascade","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very rare (<4-1%)","criteria":null}]}}