sialuria
Findings
No curated finding names sialuria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Sialuria is 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 from the Mondo Disease Ontology (MONDO:0010028), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
43 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HepatomegalyHPOHP:0002240
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Increased level of N-acetylneuraminic acid in urineHPOHP:0410156
- 1 of 1 reported patient
- 2-3 toe syndactylyHPOHP:0004691
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Abnormality of metabolism/homeostasisHPOHP:0001939
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GNEHGNC:23657
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Natera · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · G2P · Autosomal dominant · 2022
Where it sits
Other names
1 name
Resolves to: sialuria
- Also called
- sialuria, French type