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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
buphthalmos
Summary
- Synonym
-
- primary congenital glaucoma 3A
- simple buphthalmos
- Definition
- A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.
- Super Class
- hydrophthalmos
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 414 | ARSD | arylsulfatase D | |
| 1545 | CYP1B1 | cytochrome P450 family 1 subfamily B member 1 | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 1605 | DAG1 | dystroglycan 1 | |
| 2218 | FKTN | fukutin | |
| 2530 | FUT8 | fucosyltransferase 8 | |
| 4952 | OCRL | OCRL inositol polyphosphate-5-phosphatase | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 9469 | CHST3 | carbohydrate sulfotransferase 3 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP | |
| Q9UKY4 | Protein O-mannosyl-transferase 2 | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000603 | Central scotoma |
| HP:0012511 | Temporal optic disc pallor |
| HP:0000541 | Retinal detachment |
| HP:0007906 | Ocular hypertension |
| HP:0000505 | Visual impairment |
| HP:0011003 | High myopia |
| HP:0000587 | Abnormal optic nerve morphology |
| HP:0012796 | Increased cup-to-disc ratio |
| HP:0001138 | Optic neuropathy |
| HP:0000501 | Glaucoma |
