{"orpha":370933,"name":"GM3 synthase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ST3GAL5-CDG"],"definition":"GM3 synthase deficiency is a rare congenital disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterized by irritability, poor feeding, failure to thrive and early-onset refractory epilepsy, followed by postnatal growth impairment, severe developmental delay or developmental regression, profound intellectual disability, deafness and abnormalities of skin pigmentation (mostly freckle-like hyperpigmented and depigmented macules). Visual impairment due to cortical atrophy (visible on magnetic resonance imaging), choreoathetosis and hypotonic tetraparesis usually appear gradually. Dysmorphic facial features may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370933/","orphanet_url":"https://www.orpha.net/en/disease/detail/370933","names":{"fr":{"name":"Déficit en GM3 synthase","synonyms":["ST3GAL5-CDG"],"definition":"Un trouble congénital et rare de la glycosylation, dû à un défaut de synthèse des gangliosides complexes. Il se caractérise tout d'abord par une irritabilité, des difficultés pour s'alimenter, un retard de croissance staturo-pondérale et une épilepsie réfractaire précoce. Par la suite, il se manifeste par un retard de croissance post-natale, un retard de développement sévère ou une régression du développement, un déficit intellectuel profond, une surdité et des anomalies de la pigmentation cutanée (le plus souvent sous la forme de macules dépigmentées et hyperpigmentées, comme des taches de rousseur). Une atteinte visuelle causée par une atrophie corticale (visible à l'imagerie par résonance magnétique) apparaît progressivement, ainsi qu'une choréoathétose et une tétraplégie hypotonique. Une dysmorphie faciale peut être associée."},"de":{"name":"GM3-Synthase-Mangel","synonyms":["ST3GAL5-CDG"],"definition":"GM3-Synthase-Mangel ist eine seltene angeborene Störung der Glykosylierung aufgrund einer gestörten Synthese komplexer Gangliosid-Spezies, die zunächst durch Reizbarkeit, schlechte Ernährung, Gedeihstörung und früh einsetzende refraktäre Epilepsie gekennzeichnet ist, gefolgt von postnataler Wachstumsstörung, schwerer Entwicklungsverzögerung oder Entwicklungsregression, schwerer Intelligenzminderung, Taubheit und Anomalien der Hautpigmentierung (meist sommersprossenartige hyperpigmentierte und depigmentierte Makula). Sehstörungen durch kortikale Atrophie (sichtbar in der Magnetresonanztomographie), Choreoathetose und hypotone Tetraparese treten meist schleichend auf. Dysmorphe Gesichtszüge können assoziiert sein."},"es":{"name":"Deficiencia de GM3 sintasa","synonyms":["ST3GAL5-CDG"],"definition":"La deficiencia de GM3 sintasa es un trastorno congénito poco frecuente de glicosilación debido a una síntesis deficiente de especies de gangliósidos complejos que se caracteriza inicialmente por irritabilidad, mala alimentación, fallo de medro y epilepsia refractaria de inicio temprano, seguida de alteraciones del crecimiento postnatal, retraso grave o regresión del desarrollo, discapacidad intelectual profunda, sordera y alteraciones de la pigmentación cutánea (en su mayoría, máculas despigmentadas o hiperpigmentadas similares a pecas). Los afectados suelen presentar también un deterioro visual gradual debido a la atrofia cortical (visible en las imágenes de resonancia magnética), coreoatetosis y tetraparesia hipotónica. Pueden estar asociados rasgos faciales dismórficos."},"it":{"name":"Deficit di GM3 sintasi","synonyms":["Deficit di GM3 sintasi"],"definition":"Il deficit di GM3 sintasi è un difetto congenito raro della glicosilazione, causato da deficit della sintesi dei gangliosidi complessi. Ha un esordio precoce con irritabilità, difficoltà di alimentazione, ritardo dello sviluppo ed epilessia refrattaria; successivamente, i pazienti presentano ritardo della crescita, grave ritardo o regressione dello sviluppo, grave disabilità intellettiva, sordità e anomalie della pigmentazione cutanea (soprattutto macchie simil-lentigginose iperpigmentate e depigmnentate). Di solito si manifesta progressivamente una compromissione della vista secondaria all'atrofia corticale (evidente alla risonanza magnetica), la coreoatetosi e la tetraparesi ipotonica. Possono associarsi dismorfismi facciali."},"nl":{"name":"GM3-synthasedeficiëntie","synonyms":["ST3GAL5-CDG"],"definition":"GM3-synthasedeficiëntie is een zeldzame congenitale stoornis van de glycosylatie als gevolg van een verstoorde synthese van complexe gangliosiden, en wordt initieel gekarakteriseerd door prikkelbaarheid, weinig eten, groeiachterstand en vroeg aanvangende refractaire epilepsie, gevolgd door postnatale groeistoornis, ernstige ontwikkelingsachterstand of ontwikkelingsregressie, ernstige intellectuele achterstand, doofheid en afwijkingen van de huidpigmentatie (meestal sproet-achtige gehyperpigmenteerde en gedepigmenteerde maculae). Functieverlies van het zicht vanwege corticale atrofie (waarneembaar bij beeldvorming met magnetische resonantie), choreoathetose en hypotonische tetraparese verschijnen doorgaans geleidelijk. Dysmorfe gelaatskenmerken kunnen geassocieerd zijn."},"pt":{"name":"Deficiência de GM3 sintetase","synonyms":["ST3GAL5-CDG"]},"pl":{"name":"Niedobór syntazy GM3","synonyms":["ST3GAL5-CDG"]},"cs":{"name":"ST3GAL5-CDG","synonyms":["Deficit GM3 syntázy"]},"uk":{"name":"Дефіцит GM3-синтази","synonyms":["ST3GAL5-CDG"],"definition":"GM3 synthase deficiency is a rare congenital disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterized by irritability, poor feeding, failure to thrive and early-onset refractory epilepsy, followed by postnatal growth impairment, severe developmental delay or developmental regression, profound intellectual disability, deafness and abnormalities of skin pigmentation (mostly freckle-like hyperpigmented and depigmented macules). Visual impairment due to cortical atrophy (visible on magnetic resonance imaging), choreoathetosis and hypotonic tetraparesis usually appear gradually. Dysmorphic facial features may be associated."},"zh":{"name":"GM3合酶缺陷","synonyms":["ST3GAL5-CDG"],"definition":"GM3合成酶缺乏是一种罕见的先天性糖基化障碍，是由于复杂的神经节苷脂合成障碍所致，本病最初表现为易怒、摄食不良、发育迟缓和早发性难治性癫痫，随后出现出生后生长发育障碍、严重的发育迟缓或发育倒退、极重度智力障碍、耳聋和皮肤色素异常(主要是雀斑样色素沉着和脱色)。皮质萎缩(在磁共振成像上可见)所致的视力损害，手足徐动症和低张性四肢瘫痪通常是逐渐出现的。畸形的面部特征也可能与本病有关。"},"tr":{"name":"GM3 sentaz eksikliği","synonyms":["ST3GAL5-CDG"]}},"xrefs":[{"source":"OMIM","code":"609056","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.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2006187313"},{"source":"MONDO","code":"0018274","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12059","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":171714,"name":"Amish infantile epilepsy syndrome","status":"inactive"},{"type":"Moved to","orpha":370938,"name":"Salt-and-pepper syndrome","status":"inactive"}],"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":371200,"name":"Congenital disorder of glycosylation with skin involvement","classifications":[156,187]},{"orpha":309515,"name":"Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation","classifications":[150,156]},{"orpha":352306,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement","classifications":[150,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ST3GAL5","name":"ST3 beta-galactoside alpha-2,3-sialyltransferase 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24026681[PMID]_15502825[PMID]","hgnc":"10872","ensembl":"ENSG00000115525","omim":"604402","loci":["2p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}