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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 |
|---|---|---|---|
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 26229 | B3GAT3 | beta-1,3-glucuronyltransferase 3 | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 79147 | FKRP | fukutin related protein |
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:0007854 | Glaucomatous visual field defect |
| HP:0000525 | Abnormality iris morphology |
| HP:0012108 | Open angle glaucoma |
| HP:0000593 | Abnormal anterior chamber morphology |
| HP:0012636 | Retinal vein occlusion |
| HP:0001052 | Nevus flammeus |
| HP:0000572 | Visual loss |
| HP:0007994 | Peripheral visual field loss |
| HP:0000557 | Buphthalmos |
| HP:0000007 | Autosomal recessive inheritance |
