bilateral optic nerve hypoplasia

Summary
Synonym
  • ONH
  • familial bilateral optic nerve hypoplasia
  • isolated optic nerve hypoplasia/aplasia
Definition
An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.
Super Class
autosomal dominant disease optic nerve disease
External Links
Disease Ontology
DOID:0111531
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying entries 1 - 10 of 14 in total
Gene ID Gene Symbol Description Source
220 ALDH1A3 aldehyde dehydrogenase 1 family member A3
1717 DHCR7 7-dehydrocholesterol reductase
2218 FKTN fukutin
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
10585 POMT1 protein O-mannosyltransferase 1
29925 GMPPB GDP-mannose pyrophosphorylase B
29954 POMT2 protein O-mannosyltransferase 2
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
79147 FKRP fukutin related protein
79644 SRD5A3 steroid 5 alpha-reductase 3

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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