loading...| Preferred Name |
Sialuria |
| ID |
http://www.orpha.net/ORDO/Orphanet_3166 |
| alternative_term |
Sialuria, French type |
| 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. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3166 |
| has_age_of_onset |
Infancy |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
ICD-10:E77.8 OMIM:269921 ICD-11:5C56.4 UMLS:C0342853 MedDRA:10067529 MeSH:C537332 |
| label |
Sialuria |
| notation |
ORPHA:3166 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_3166 |
| prefLabel |
Sialuria |
| present_in |
Worldwide AND has_cases/families_value : 5.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView | |
| subClassOf |