MCID: PRM016
MIFTS: 31

Primary Optic Atrophy

Categories: Neuronal diseases, Eye diseases, Genetic diseases, Rare diseases, Ear diseases, Metabolic diseases

Aliases & Classifications for Primary Optic Atrophy

MalaCards integrated aliases for Primary Optic Atrophy:

Name: Primary Optic Atrophy 12 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:10627
ICD10 33 H47.21
ICD9CM 35 377.11
SNOMED-CT 64 21098003
UMLS 69 C0155291

Summaries for Primary Optic Atrophy

MalaCards based summary : Primary Optic Atrophy is related to malaria and marfan lipodystrophy syndrome. An important gene associated with Primary Optic Atrophy is CD36 (CD36 Molecule). The drugs Choline and Cytidine Diphosphate Choline have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and bone, and related phenotype is Increased viability.

Related Diseases for Primary Optic Atrophy

Graphical network of the top 20 diseases related to Primary Optic Atrophy:



Diseases related to Primary Optic Atrophy

Symptoms & Phenotypes for Primary Optic Atrophy

GenomeRNAi Phenotypes related to Primary Optic Atrophy according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability GR00386-A-1 8.92 CD36 ELN FLNA GCG

Drugs & Therapeutics for Primary Optic Atrophy

Drugs for Primary Optic Atrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 126)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Choline Approved, Nutraceutical Phase 4 62-49-7 305
2 Cytidine Diphosphate Choline Phase 4
3 Nootropic Agents Phase 4
4
Bimatoprost Approved, Investigational Phase 3 155206-00-1 5311027
5
Doxycycline Approved, Investigational, Vet_approved Phase 2, Phase 3 564-25-0 54671203
6
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
7
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
8
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
9
Iron Approved Phase 2, Phase 3 7439-89-6 23925
10
Curcumin Investigational Phase 3 458-37-7 969516
11 Ophthalmic Solutions Phase 2, Phase 3, Phase 1
12 Pharmaceutical Solutions Phase 2, Phase 3, Phase 1
13 Antihypertensive Agents Phase 3,Phase 2,Phase 1
14 Analgesics Phase 3,Phase 1,Phase 2
15 Analgesics, Non-Narcotic Phase 3,Phase 1,Phase 2
16 Anti-Inflammatory Agents Phase 3,Phase 1,Phase 2
17 Anti-Inflammatory Agents, Non-Steroidal Phase 3,Phase 1,Phase 2
18 Antirheumatic Agents Phase 3,Phase 1,Phase 2
19 Peripheral Nervous System Agents Phase 3,Phase 1,Phase 2
20 Anti-Infective Agents Phase 2, Phase 3, Phase 1
21 Antiparasitic Agents Phase 2, Phase 3,Phase 1
22 Antiprotozoal Agents Phase 2, Phase 3,Phase 1
23 Antiviral Agents Phase 2, Phase 3,Phase 1
24 Hormone Antagonists Phase 2, Phase 3,Phase 1
25 Hormones Phase 2, Phase 3,Phase 1
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
27 Hypoglycemic Agents Phase 2, Phase 3,Phase 1
28 Incretins Phase 2, Phase 3
29 Antioxidants Phase 3,Phase 2,Phase 1
30 Anti-Bacterial Agents Phase 2, Phase 3,Phase 1
31 Protective Agents Phase 2, Phase 3,Phase 1
32 Respiratory System Agents Phase 2, Phase 3,Phase 1
33 Epoetin alfa Phase 3 113427-24-0
34 Hematinics Phase 3
35 Antimalarials Phase 2, Phase 3,Phase 1
36 Anesthetics Phase 3,Phase 1,Phase 2
37 Anti-Infective Agents, Local Phase 3
38 Central Nervous System Depressants Phase 3,Phase 2
39 Antidotes Phase 2, Phase 3
40 Chelating Agents Phase 2, Phase 3
41 Dipeptidyl-Peptidase IV Inhibitors Phase 2, Phase 3
42 Expectorants Phase 2, Phase 3
43 HIV Protease Inhibitors Phase 2, Phase 3
44 Iron Chelating Agents Phase 2, Phase 3
45 N-monoacetylcystine Phase 2, Phase 3
46
protease inhibitors Phase 2, Phase 3
47 Sitagliptin Phosphate Phase 2, Phase 3
48 Omega 3 Fatty Acid Nutraceutical Phase 3
49
Amiloride Approved Phase 2 2016-88-8, 2609-46-3 16231
50
Hydrochlorothiazide Approved, Vet_approved Phase 2 58-93-5 3639

Interventional clinical trials:

(show top 50) (show all 110)

id Name Status NCT ID Phase Drugs
1 Citicoline Effect on Non-arteritic Anterior Ischemic Optic Neuropathy (NAION) Completed NCT03046693 Phase 4 Group A Citicoline 1000 mg oral tablet;Group B placebo oral tablet
2 Phase II/III Study of the Efficacy and Safety of MacuCLEAR MC-1101 in Treating DryAge-Related Macular Degeneration Unknown status NCT02127463 Phase 2, Phase 3 MC-1101;MC-1101 Vehicle
3 Treatment of Soft Tissue Expansion in Inactive Thyroid Eye Disease Patients Using Drops of Prostaglandin Analogues Unknown status NCT02155049 Phase 3 bimatoprost 0.03%
4 TTT Versus PDT for Treatment of Choroidal Neovascularization in Age-Related Macular Degeneration Unknown status NCT00260403 Phase 2, Phase 3
5 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3 curcumin
6 Erythropoietin in Methanol Associated Optic Neuropathy: A Phase-2 Clinical Trial (EPO-MAON Study) Recruiting NCT02376881 Phase 3 Erythropoietin
7 Safety and Efficacy Study of Gene Therapy for The Treatment of Leber's Hereditary Optic Neuropathy Recruiting NCT03153293 Phase 2, Phase 3 rAAV2-ND4;normal saline
8 Clinical Study to Evaluate Treatment With ORACEA® for Geographic Atrophy (TOGA) Recruiting NCT01782989 Phase 2, Phase 3 ORACEA®;Placebo
9 Treatment of Optic Neuritis With Erythropoietin: a Randomised, Double-blind, Placebo-controlled Trial Active, not recruiting NCT01962571 Phase 3 Erythropoietin alfa;Placebo
10 Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation Active, not recruiting NCT02652780 Phase 3
11 Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 Mutation Active, not recruiting NCT02652767 Phase 3
12 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy Not yet recruiting NCT02882477 Phase 2, Phase 3 Deferiprone;Acetylcysteine;Sitagliptin and Metformin
13 Safety and Effectiveness Investigation for Dry, Non-Exudative Age Related Macular Degeneration (AMD) Using Rheopheresis Suspended NCT00460967 Phase 3
14 Efficacy and Safety Study of MC-1101 1% TID in the Treatment of Nonexudative Age-Related Macular Degeneration Terminated NCT01601483 Phase 2, Phase 3 MC-1101;MC-1101 Vehicle
15 Omega 6:Omega 3 Ratio and Progression of Age-related Macular Degeneration (AMD). Terminated NCT00987129 Phase 3
16 Study the Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Optic Nerve Disease Unknown status NCT01834079 Phase 1, Phase 2
17 Amiloride Hydrochlorothiazide as Treatment of Acute Inflammation of the Optic Nerve Unknown status NCT01879527 Phase 2 Amiloride hydrochlorothiazide;Sugar pill
18 Efficacy, Safety and Tolerability of Andrographolides Versus Placebo in Patients With Progressive Forms of MS Unknown status NCT02273635 Phase 1, Phase 2 Andrographolides;placebo
19 A Safety Study of CNTO 2476 in Patients With Age-Related Macular Degeneration Completed NCT01226628 Phase 1, Phase 2
20 Study to Assess Efficacy,Safety and Tolerability of Idebenone in the Treatment of Leber's Hereditary Optic Neuropathy Completed NCT00747487 Phase 2 Idebenone;Placebo
21 OT-551 Antioxidant Eye Drops to Treat Geographic Atrophy in Age-Related Macular Degeneration Completed NCT00306488 Phase 2 OT-551 antioxidant eye drop
22 Pilot Study of the Evaluation of Subconjunctival Sirolimus in the Treatment of Bilateral GA Associated With AMD Completed NCT00766649 Phase 1, Phase 2 Sirolimus
23 Sirolimus for Advanced Age-Related Macular Degeneration Completed NCT01445548 Phase 1, Phase 2 Sirolimus
24 Safety, Tolerability and Activity Study of Ibudilast in Subjects With Progressive Multiple Sclerosis Completed NCT01982942 Phase 2 ibudilast;Placebo
25 Complement Inhibition With Eculizumab for the Treatment of Non-Exudative Macular Degeneration (AMD) Completed NCT00935883 Phase 2 Eculizumab;Saline
26 Evaluation of Oral Minocycline in the Treatment of Geographic Atrophy Associated With Age-Related Macular Degeneration Recruiting NCT02564978 Phase 2 Minocycline
27 Study of Subretinal Implantation of Human Embryonic Stem Cell-Derived RPE Cells in Advanced Dry AMD Recruiting NCT02590692 Phase 1, Phase 2
28 Alpha Lipoic Acid in Geographic Atrophy Recruiting NCT02613572 Phase 1, Phase 2 alpha lipoic acid;Placebo
29 Safety and Efficacy Study of OpRegen for Treatment of Advanced Dry-Form Age-Related Macular Degeneration Recruiting NCT02286089 Phase 1, Phase 2
30 Targeting Residual Activity By Precision, Biomarker-Guided Combination Therapies of Multiple Sclerosis (TRAP-MS) Recruiting NCT03109288 Phase 1, Phase 2 Pioglitazone;Montelukast;Losartan;Hydroxychloroquine
31 Metformin for the Minimization of Geographic Atrophy Progression in Patients With AMD Recruiting NCT02684578 Phase 2 Metformin
32 A Study Investigating the Safety, Tolerability, and Efficacy of Elamipretide (MTP-131) Topical Ophthalmic Solution for the Treatment of Leber's Hereditary Optic Neuropathy Active, not recruiting NCT02693119 Phase 2 elamipretide (MTP-131) 1% topical ophthalmic solution;Vehicle topical ophthalmic solution
33 Safety Evaluation of Gene Therapy in Leber Hereditary Optic Neuropathy (LHON) Patients Active, not recruiting NCT02064569 Phase 1, Phase 2
34 Study of of APL-2 Therapy in Patients Geographic Atrophy Active, not recruiting NCT02503332 Phase 2 APL-2
35 Effectiveness and Safety of Adipose-Derived Regenerative Cells for Treatment of Glaucomatous Neurodegeneration Enrolling by invitation NCT02144103 Phase 1, Phase 2
36 A Phase 1b Dose Escalation Evaluation of Safety and Tolerability and a Phase 2 Proof of Concept Investigation of Efficacy and Safety of ASP7317 for Atrophy Secondary to Age-related Macular Degeneration Not yet recruiting NCT03178149 Phase 1, Phase 2 ASP7317;tacrolimus;mycophenolate mofetil (MMF)
37 Near-infrared Light-emitting Diode (NIR-LED) Therapy for Leber's Hereditary Optic Neuropathy (LHON) Terminated NCT01389817 Phase 1, Phase 2
38 Intravitreal Injections of Sirolimus in the Treatment of Geographic Atrophy Terminated NCT01675947 Phase 2 Sirolimus;Lidocaine
39 Research With Retinal Cells Derived From Stem Cells for Myopic Macular Degeneration Withdrawn NCT02122159 Phase 1, Phase 2
40 Micropulse Laser for Geographic Atrophy Unknown status NCT01799564 Phase 1
41 Safety Study of a Topical Treatment for Dry Age Related Macular Degeneration Completed NCT01922128 Phase 1 MC-1101, Placebo
42 Safety Study of an Adeno-associated Virus Vector for Gene Therapy of Leber's Hereditary Optic Neuropathy Recruiting NCT02161380 Phase 1 injection of scAAV2-P1ND4v2 5.00x10e9 vg (Low),;injection of scAAV2-P1ND4v2 2.46X10e10 vg (Med);injection of scAAV2-P1ND4v2 1.0X10e11vg (High)
43 Treatment of Advanced Dry Age Related Macular Degeneration With AAVCAGsCD59 Recruiting NCT03144999 Phase 1
44 An Open-Label, Phase 1 Clinical Study to Evaluate the Safety and Tolerability of Subcutaneous Elamipretide in Subjects With Intermediate Age-Related Macular Degeneration Active, not recruiting NCT02848313 Phase 1 Elamipretide
45 A Phase I Open Label Dose Escalation Trial of RNA-144101 in the Treatment of Geographic Atrophy Withdrawn NCT01093170 Phase 1 RNA-144101
46 Advanced Characterization of Autosomal Dominant Optic Atrophy Unknown status NCT01522638
47 GLP Analogs for Diabetes in Wolfram Syndrome Patients Unknown status NCT01302327 Exenatide
48 High-Resolution Optical Coherence Tomography for Detection of Retinal Nerve Fiber Layer Loss in Band Atrophy of the Optic Nerve Unknown status NCT00607100
49 Prospective Study Phase: Retinal Oxygen Saturation, Blood Flow, Vascular Function and High Resolution Morphometric Imaging in the Living Human Eye Unknown status NCT01348672
50 Retinal Nerve Fiber Layer Thickness Measurement on Parapapillary Atrophy With the Cirrus High-Definition (HD) Optical Coherence Tomography (OCT) Unknown status NCT00742196

Search NIH Clinical Center for Primary Optic Atrophy

Genetic Tests for Primary Optic Atrophy

Anatomical Context for Primary Optic Atrophy

MalaCards organs/tissues related to Primary Optic Atrophy:

39
Eye, Brain, Bone, Skeletal Muscle, Thyroid

Publications for Primary Optic Atrophy

Articles related to Primary Optic Atrophy:

(show all 27)
id Title Authors Year
1
Erb's paraplegia with primary optic atrophy: Unusual presentation of neurosyphilis: Case report and review of literature. ( 25024583 )
2014
2
Primary optic atrophy and autosomal dominant osteopetrosis type II. ( 12240863 )
2002
3
Optic nerve head extracellular matrix in primary optic atrophy and experimental glaucoma. ( 2369339 )
1990
4
Diabetes mellitus, primary optic atrophy and sensorineural deafness: a rare syndrome. ( 710125 )
1978
5
Primary optic atrophy--as a part of the spectrum of other hereditary neurological disorders. ( 1010827 )
1976
6
Primary optic atrophy vs glaucomatous optic atrophy. ( 5566105 )
1971
7
Some ischemic changes that cause primary optic atrophy. ( 5552028 )
1971
8
Association of juvenile diabetes mellitus, primary optic atrophy and perceptive hearing loss in three sibs, with additional idiopathic diabetes mellitus insipidus in one case. ( 5468975 )
1970
9
Treatment of a case of primary optic atrophy. ( 6002611 )
1966
10
PRIMARY OPTIC ATROPHY FROM ACQUIRED DILATATION OF THE THIRD VENTRICLE. ( 14167196 )
1964
11
Charcot-Marie-Tooth disease with primary optic atrophy; report of a case. ( 13716305 )
1960
12
Results of penicillin therapy in syphilitic primary optic atrophy. ( 13749666 )
1960
13
Tabes dorsalis with special reference to primary optic atrophy. ( 13471961 )
1957
14
Primary optic atrophy in diabetes mellitus. ( 13356719 )
1956
15
Some observations on the course of treated syphilitic primary optic atrophy. ( 14381497 )
1955
16
Primary optic atrophy in von Recklinghausen's disease; report of a case. ( 13114320 )
1954
17
Sarcoid; primary optic atrophy. ( 14837504 )
1951
18
Primary optic atrophy in von Recklinghausen's disease (multiple neurofibromatosis). ( 18149501 )
1949
19
The treatment of syphilitic primary optic atrophy with penicillin and with penicillin and malaria. ( 18113374 )
1949
20
Syphilitic primary optic atrophy. ( 18149023 )
1949
21
Penicillin treatment of syphilitic primary optic atrophy; an interim report. ( 18121296 )
1949
22
The frequency of syphilitic primary optic atrophy in dementia paralytica; a clinico-anatomic study. ( 18864981 )
1948
23
Syphilitic primary optic atrophy as a cause of blindness; importance of early diagnosis. ( 18895276 )
1948
24
Syphilitic primary optic atrophy: a review of 54 cases. ( 20271298 )
1947
25
Malaria therapy in syphilitic primary optic atrophy. ( 21006178 )
1946
26
Primary optic atrophy in a tabetic African. ( 21016221 )
1945
27
Bilateral Primary Optic Atrophy from Glioma of the Nerves. ( 19991121 )
1937

Variations for Primary Optic Atrophy

Expression for Primary Optic Atrophy

Search GEO for disease gene expression data for Primary Optic Atrophy.

Pathways for Primary Optic Atrophy

GO Terms for Primary Optic Atrophy

Cellular components related to Primary Optic Atrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.32 FLNA

Biological processes related to Primary Optic Atrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.16 CD36 GCG
2 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 8.96 CD36 FLNA
3 platelet degranulation GO:0002576 8.62 CD36 FLNA

Sources for Primary Optic Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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