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congenital stationary night blindness
Summary
- Synonym
-
- congenital essential nyctalopia
- Definition
- A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves.
- Super Class
- hereditary night blindness physical disorder
External Links
- Disease Ontology
- DOID:0050534
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
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
