oculocerebrorenal syndrome
Findings
No curated finding names oculocerebrorenal syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.
Definition from the Mondo Disease Ontology (MONDO:0010645), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy · Congenital onset
HPO, annotations 2026-09-02
Features
131 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.
- Abnormal pupil morphologyHPOHP:0000615
- Very frequent (80% to 99% of cases)
- Abnormal renal tubule morphologyHPOHP:0000091
- Very frequent (80% to 99% of cases)
- Abnormality of the voiceHPOHP:0001608
- Very frequent (80% to 99% of cases)
- AmblyopiaHPOHP:0000646
- Very frequent (80% to 99% of cases)
- AminoaciduriaHPOHP:0003355
- Very frequent (80% to 99% of cases)
- AnxietyHPOHP:0000739
- Very frequent (80% to 99% of cases)
Show the remaining 119
- HypercalciuriaHPOHP:0002150
- Very frequent (80% to 99% of cases)
- HyponatremiaHPOHP:0002902
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Motor stereotypyHPOHP:0000733
- Very frequent (80% to 99% of cases)
- Neonatal hypotoniaHPOHP:0001319
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- 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.
- OCRLHGNC:8108
- Definitive · Ambry Genetics · X-linked · 2018
- Definitive · ClinGen · X-linked · 2020
- Definitive · Laboratory for Molecular Medicine · X-linked · 2020
- Definitive · G2P · X-linked · 2019
- Definitive · Natera · X-linked recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
12 names
Resolves to: oculocerebrorenal syndrome
- Also called
- Lowe diseaseLowe oculo-cerebro-renal syndromeLowe oculocerebrorenal syndromeLowe syndromeLowe syndrome, X-linked recessiveOCROCRLoculo-cerebro-renal dystrophyoculo-cerebro-renal syndromeoculocerebrorenal dystrophyoculocerebrorenal syndrome of Lowephosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency