optic atrophy

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Information
Disease name
optic atrophy
Disease ID
DOID:5723
Description
"An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve." [url:https\://eyewiki.aao.org/Optic_Atrophy]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
OPA1 3 193,593,186 193,697,811 98
OPA1-AS1 3 193,618,609 193,627,332 4
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT01064505 Completed Phase 1 Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION Patients February 2010 April 2013
NCT04580979 Completed Natural History Study of FDXR Mutation-related Mitochondriopathy November 3, 2020 August 17, 2023
NCT04594590 Completed Natural History Study of SLC25A46 Mutation-related Mitochondriopathy November 3, 2020 August 17, 2023
NCT04680143 Completed Phase 1/Phase 2 Systemic Erythropoietin Injection in Patients Having Optic Atrophy September 1, 2020 March 30, 2021
NCT04723160 Completed Computer Aided Diagnosis of Multiple Eye Fundus Diseases From Color Fundus Photograph August 10, 2020 May 30, 2021
NCT03011541 Recruiting N/A Stem Cell Ophthalmology Treatment Study II January 2016 July 31, 2026
NCT05147701 Recruiting Phase 1 Safety of Cultured Allogeneic Adult Umbilical Cord Derived Mesenchymal Stem Cells for Eye Diseases February 1, 2022 January 2026
NCT01834079 Unknown status Phase 1/Phase 2 Study the Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Optic Nerve Disease September 2014 July 2016
NCT02882477 Unknown status Phase 2/Phase 3 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy December 2016 December 2018
Disase is a (Disease Ontology)
DOID:1891
Cross Reference ID (Disease Ontology)
ICD10CM:H47.2
Cross Reference ID (Disease Ontology)
ICD9CM:377.1
Cross Reference ID (Disease Ontology)
MESH:D009896
Cross Reference ID (Disease Ontology)
MIM:PS165500
Cross Reference ID (Disease Ontology)
NCI:C34863
Cross Reference ID (Disease Ontology)
ORDO:98673
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:155188004
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0029124
Exact Synonym (Disease Ontology)
atrophy of optic disc
HPO alt_id (Human Phenotype Ontology)
HP:0007751
HPO alt_id (Human Phenotype Ontology)
HP:0007855
HPO Human Phenotype ID (Human Phenotype Ontology)
HP:0000648
OMIM Phenotype Series Number (OMIM)
PS165500
ICD10 preferred id (Insert disease from ICD10)
D0006220
ICD10 class code (Insert disease from ICD10)
H47.2
MeSH unique ID (MeSH (Medical Subject Headings))
D009896