Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Norrie disease
Summary
- Synonym
-
- Episkopi blindness
- Norrie-Warburg disease
- atrophia bulborum hereditaria
- Definition
- A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11.
- Super Class
- X-linked recessive disease syndrome
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06731 | Carcinoembryonic antigen-related cell adhesion molecule 5 | |
| P28907 | ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 | |
| Q14002 | Carcinoembryonic antigen-related cell adhesion molecule 7 | |
| Q8NFW8 | N-acylneuraminate cytidylyltransferase |
