{"orpha":3166,"name":"Sialuria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Sialuria, French type"],"definition":"A rare disorder of sialic acid metabolism characterized by excretion of large quantities of free sialic acid (predominantly N-acetylneuraminic acid without any morphologic evidence of storage within any subcellular organelle), mildly coarse facial features and hepatosplenomegaly. Growth and development are rather normal, however some affected individuals were reported to have moderate developmental delay, slight motor delay and mild intellectual impairment. Additional clinical features may involve macrocephaly, mild small airway obstruction, frequent upper respiratory tract infections, transient failure to thrive, seizures and sleep apnea. Signs and symptoms can be transient, especially in infancy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3166/","orphanet_url":"https://www.orpha.net/en/disease/detail/3166","names":{"fr":{"name":"Sialurie","synonyms":["Sialurie type francais"],"definition":"Trouble rare du métabolisme de l'acide sialique caractérisé par l'excrétion massive d'acide sialique libre (principalement de l'acide N-acétylneuraminique en l'absence de toute trace morphologique de stockage dans un organite subcellulaire), des traits faciaux légèrement grossiers et une hépatosplénomégalie. La croissance et le développement sont plutôt normaux, mais certains individus atteints présentent un retard de développement modéré, un léger retard moteur et une légère déficience intellectuelle. D'autres signes cliniques peuvent être une macrocéphalie, une légère obstruction des petites voies aériennes, des infections fréquentes des voies aériennes supérieures, un retard de croissance transitoire, des crises convulsives et une apnée du sommeil. Les signes et les symptômes peuvent être transitoires, en particulier dans la petite enfance."},"de":{"name":"Sialurie","synonyms":["Sialurie, französischer Typ"],"definition":"Eine seltene Störung des Sialinsäurestoffwechsels, die durch die Ausscheidung großer Mengen freier Sialinsäure (vorwiegend N-Acetylneuraminsäure) gekennzeichnet ist. Morphologische Hinweise auf eine Speicherung in subzellulären Organellen fehlen. Weitere Symptome sind leicht grobe Gesichtszüge und Hepatosplenomegalie. Wachstum und Entwicklung sind eher normal. Bei einigen betroffenen Personen wurde jedoch von einer mäßigen Entwicklungsverzögerung, einer leichten motorischen Verzögerung und einer leichten intellektuellen Beeinträchtigung berichtet. Weitere mögliche klinische Merkmale sind Makrozephalie, eine leichte Obstruktion der kleinen Atemwege, häufige Infektionen der oberen Atemwege, eine vorübergehende Gedeihstörung, Krampfanfälle und Schlafapnoe. Die Anzeichen und Symptome können vorübergehend sein, insbesondere im Säuglingsalter."},"es":{"name":"Sialuria","synonyms":["Sialuria tipo francés"],"definition":"Es un trastorno poco frecuente del metabolismo del ácido siálico, caracterizado por la excreción de grandes cantidades de ácido siálico libre (predominantemente ácido N-acetilneuramínico, sin evidencia morfológica de almacenamiento en orgánulos subcelulares), rasgos faciales ligeramente toscos y hepatoesplenomegalia. El crecimiento y el desarrollo son practicamente normales; sin embargo, se ha descrito que algunos pacientes presentan retraso moderado del desarrollo, ligero retraso motor y afectación intelectual leve. Otras características clínicas pueden incluir macrocefalia, obstrucción leve de las vías aéreas pequeñas, infecciones frecuentes de las vías respiratorias superiores, fallo de medro transitorio, crisis epilépticas y apnea del sueño. Los signos y síntomas pueden ser transitorios, especialmente en lactantes."},"it":{"name":"Sialuria","synonyms":["Sialuria, tipo francese"],"definition":"La sialuria è un disturbo metabolico estremamente raro descritto finora in meno di 10 pazienti e caratterizzato da segni e sintomi variabili, in particolare nel periodo neonatale, che comprendono ritardo transitorio della crescita, ittero neonatale leggermente prolungato, epatomegalia sospetta o lieve, anemia microcitica, frequenti infezioni delle vie aree superiori, gastroenterite, disidratazione e facies appiattita e grossolana. Nell'infanzia, possono insorgere disturbi dell'apprendimento e convulsioni."},"nl":{"name":"Sialurie","synonyms":["Sialurie, Frans type"],"definition":"Een zeldzame aandoening van het siaalzuurmetabolisme, gekenmerkt door excretie van grote hoeveelheden vrij siaalzuur (vooral N-acetyl-neuraminezuur zonder enig morfologisch bewijs van opslag in een subcellulair organel), milde ruwe gelaatskenmerken en hepatosplenomegalie. Groei en ontwikkeling zijn eerder normaal, hoewel sommige getroffen individuen werden gerapporteerd met matige ontwikkelingsachterstand, lichte motorische achterstand en milde intellectuele stoornis. Mogelijke bijkomende klinische kenmerken zijn macrocefalie, milde obstructie van kleine luchtwegen, frequente infecties van bovenste luchtwegen, tijdelijk niet-gedijen, insulten en slaapapneu. Verschijnselen en symptomen kunnen tijdelijk zijn, vooral in de zuigelingentijd."},"pt":{"name":"Sialúria","synonyms":["Sialúria tipo francês"]},"pl":{"name":"Sialuria","synonyms":["Sialuria, typ francuski"],"definition":"Rzadkie zaburzenie metabolizmu kwasu sialowego, charakteryzujące się wydalaniem dużych ilości wolnego kwasu sialowego (głównie kwasu N-acetyloneuraminowego), bez jakichkolwiek morfologicznych cech jego gromadzenia w organellach komórkowych. Chorobie towarzyszy łagodne pogrubienie rysów twarzy oraz powiększenie wątroby i śledziony. Wzrost i rozwój są zazwyczaj prawidłowe, jednak u niektórych osób opisywano umiarkowane opóźnienie rozwoju, niewielkie opóźnienie ruchowe oraz łagodną niepełnosprawność intelektualną. Dodatkowe objawy kliniczne mogą obejmować makrocefalię, łagodną obturację małych oskrzeli, częste infekcje górnych dróg oddechowych, przemijające zahamowanie przyrostu masy ciała, napady padaczkowe oraz bezdech senny. Objawy przedmiotowe i podmiotowe mogą mieć charakter przejściowy, szczególnie w okresie niemowlęcym."},"cs":{"name":"Sialurie","synonyms":["Sialurie, francouzský typ"]},"uk":{"name":"Сіалурія","synonyms":["Сіалурія, французький тип"],"definition":"An extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood."},"zh":{"name":"唾液酸尿症","synonyms":["唾液酸尿症，法国型"]},"tr":{"name":"Siyalüri","synonyms":["Sialuria, Fransız tipi"]}},"xrefs":[{"source":"OMIM","code":"269921","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"154329034"},{"source":"MONDO","code":"0010028","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342853","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4865","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309319,"name":"Disorder of sialic acid metabolism","classifications":[150,156]}],"children":[],"genes":[{"symbol":"GNE","name":"glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301343[PMID]","hgnc":"23657","ensembl":"ENSG00000159921","omim":"603824","loci":["9p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"11486897[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11486897[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-03-23","source":"11486897[PMID]","terms":[{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012103","label":"Abnormality of the mitochondrion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000943","label":"Dysostosis multiplex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002574","label":"Episodic abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002474","label":"Expressive language delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002487","label":"Hyperkinetic movements","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001847","label":"Long hallux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000629","label":"Periorbital fullness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003645","label":"Prolonged partial thromboplastin time","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008443","label":"Spinal deformities","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002781","label":"Upper airway obstruction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null}]}}