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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:0007513 | Generalized hypopigmentation |
| HP:0007731 | Chorioretinal dysplasia |
| HP:0007957 | Corneal opacity |
| HP:0008069 | Neoplasm of the skin |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0009804 | Tooth agenesis |
| HP:0010471 | Oligosacchariduria |
| HP:0010807 | Open bite |
| HP:0011527 | Lentiglobus |
| HP:0100493 | Hypoammonemia |
