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congenital stationary night blindness 1A
Summary
- Synonym
-
- CSNB1A
- NBMI
- complete CSNB X-linked
- congenital stationary night blindness 1A X-linked
- congenital stationary night blindness with myopia
- hemeralopia-myopia
- myopia-night blindness
- Definition
- A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4.
- Super Class
- X-linked recessive disease congenital stationary night blindness
External Links
- Disease Ontology
- DOID:0110870
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 762 | CA4 | carbonic anhydrase 4 | |
| 3030 | HADHA | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | |
| 3098 | HK1 | hexokinase 1 | |
| 5130 | PCYT1A | phosphate cytidylyltransferase 1A, choline | |
| 6785 | ELOVL4 | ELOVL fatty acid elongase 4 | |
| 22901 | ARSG | arylsulfatase G | |
| 25839 | COG4 | component of oligomeric golgi complex 4 | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 60506 | NYX | nyctalopin | |
| 80270 | HSD3B7 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000551 | Color vision defect |
| HP:0000662 | Nyctalopia |
| HP:0000540 | Hypermetropia |
| HP:0007663 | Reduced visual acuity |
| HP:0000545 | Myopia |
| HP:0000639 | Nystagmus |
| HP:0007984 | Electronegative electroretinogram |
| HP:0000486 | Strabismus |
| HP:0007703 | Abnormality of retinal pigmentation |
| HP:0007642 | Congenital stationary night blindness |
