juvenile cataract-microcornea-renal glucosuria syndrome
Findings
No curated finding names juvenile cataract-microcornea-renal glucosuria syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.
Definition from the Mondo Disease Ontology (MONDO:0012786), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
3 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.
- CataractHPOHP:0000518
- 11 of 14 reported patients · Juvenile onset
- MicrocorneaHPOHP:0000482
- 11 of 14 reported patients
- GlycosuriaHPOHP:0003076
- 9 of 14 reported patients
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.
- SLC16A12HGNC:23094
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Laboratory for Molecular Medicine · Unknown · 2020
- Limited · G2P · Autosomal dominant · 2017
Where it sits
Other names
1 name
Resolves to: juvenile cataract-microcornea-renal glucosuria syndrome
- Also called
- cataract 47, juvenile, with microcornea