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oculocerebrorenal syndrome
Summary
- Synonym
-
- Lowe syndrome
- lowe oculocerebrorenal syndrome
- oculocerebrorenal syndrome of Lowe
- Definition
- A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.
- Super Class
- X-linked recessive disease syndrome
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
| 3632 | INPP5A | inositol polyphosphate-5-phosphatase A | |
| 3635 | INPP5D | inositol polyphosphate-5-phosphatase D | |
| 4534 | MTM1 | myotubularin 1 | |
| 4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
| 4952 | OCRL | OCRL inositol polyphosphate-5-phosphatase | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 51763 | INPP5K | inositol polyphosphate-5-phosphatase K |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002748 | Rickets |
| HP:0002756 | Pathologic fracture |
| HP:0003109 | Hyperphosphaturia |
| HP:0003126 | Low-molecular-weight proteinuria |
| HP:0003148 | Elevated serum acid phosphatase |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003577 | Congenital onset |
| HP:0003646 | Bicarbonaturia |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0004639 | Elevated amniotic fluid alpha-fetoprotein |
