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
Displaying entries 1 - 10 of 12 in total
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
The Human Phenotype Ontology
Displaying entries 11 - 14 of 14 in total
HPO ID HPO Term
HP:0011463 Childhood onset
HP:0001419 X-linked recessive inheritance
HP:0012047 Hemeralopia
HP:0011003 High myopia
Displaying all 2 entries
Gene ID Gene Symbol Description
60506 NYX nyctalopin
93589 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024