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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:0100512 | Decreased circulating vitamin D concentration |
| HP:0100530 | Abnormal circulating calcium-phosphate regulating hormone concentration |
| HP:0100589 | Urogenital fistula |
| HP:0100612 | Odontogenic neoplasm |
| HP:0100716 | Self-injurious behavior |
| HP:0100750 | Atelectasis |
| HP:0100820 | Glomerulopathy |
| HP:0100825 | Cheilitis |
| HP:0100835 | Benign neoplasm of the central nervous system |
| HP:0200042 | Skin ulcer |
