MCID: PRM016
MIFTS: 29

Primary Optic Atrophy malady

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

Aliases & Classifications for Primary Optic Atrophy

Aliases & Descriptions 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 rickets and malaria. An important gene associated with Primary Optic Atrophy is CD36 (CD36 Molecule). The drugs Acetylcholine and Acetylcysteine have been mentioned in the context of this disorder. Related phenotype is Increased viability.

Related Diseases for Primary Optic Atrophy

Diseases in the Primary Optic Atrophy family:

Optic Atrophy 1 Optic Atrophy Plus Syndrome
Optic Atrophy 6 Optic Atrophy 7
Optic Atrophy 4 Optic Atrophy 5
Optic Atrophy 8 Optic Atrophy 2
Autosomal Dominant Optic Atrophy Plus Syndrome Optic Atrophy Type 9
Optic Atrophy 11

Diseases related to Primary Optic Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
id Related Disease Score Top Affiliating Genes
1 rickets 9.8 FLNA GCG
2 malaria 9.7
3 charcot-marie-tooth disease 9.6
4 osteopetrosis 9.6
5 tabes dorsalis 9.6
6 tooth disease 9.6
7 dementia 9.6
8 paraplegia 9.6
9 neurofibromatosis 9.6
10 glioma 9.6
11 neurosyphilis 9.6
12 partial optic atrophy 9.3 CD36 ELN FLNA GCG

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 181)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4 51-84-3 187
2
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 3 616-91-1 12035
3
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
4
Choline Approved, Nutraceutical Phase 4 62-49-7 305
5 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2
6 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
7 Antiviral Agents Phase 4,Phase 2,Phase 3,Phase 1
8 abobotulinumtoxinA Phase 4
9 Botulinum Toxins Phase 4
10 Botulinum Toxins, Type A Phase 4
11 Cholinergic Agents Phase 4
12 incobotulinumtoxinA Phase 4
13 Neuromuscular Agents Phase 4
14 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
15 onabotulinumtoxinA Phase 4
16 Antidotes Phase 4,Phase 2,Phase 3
17 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1
18 Expectorants Phase 4,Phase 2,Phase 3
19 N-monoacetylcystine Phase 4,Phase 2,Phase 3
20 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1
21 Respiratory System Agents Phase 4,Phase 2,Phase 3,Phase 1
22 Cytidine Diphosphate Choline Phase 4
23 Nootropic Agents Phase 4
24
Bimatoprost Approved, Investigational Phase 3 155206-00-1 5311027
25
Doxycycline Approved, Investigational, Vet_approved Phase 2, Phase 3 564-25-0 54671203
26
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
27
Riluzole Approved, Investigational Phase 3,Phase 2 1744-22-5 5070
28
Iron Approved Phase 2, Phase 3 7439-89-6 23925
29
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
30
Eplerenone Approved Phase 2, Phase 3 107724-20-9 150310 443872
31
Spironolactone Approved Phase 2, Phase 3 1952-01-7, 52-01-7 5833
32
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 1 59-30-3 6037
33 Ophthalmic Solutions Phase 2, Phase 3, Phase 1
34 Pharmaceutical Solutions Phase 2, Phase 3, Phase 1
35 Antihypertensive Agents Phase 3,Phase 2,Phase 1
36 glucocorticoids Phase 3,Phase 2
37 Hormone Antagonists Phase 3,Phase 2,Phase 1
38 Hormones Phase 3,Phase 2,Phase 1
39 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1
40 Analgesics Phase 3,Phase 1,Phase 2
41 Analgesics, Non-Narcotic Phase 3,Phase 1,Phase 2
42 Anti-Inflammatory Agents Phase 3,Phase 1,Phase 2
43 Anti-Inflammatory Agents, Non-Steroidal Phase 3,Phase 1,Phase 2
44 Antirheumatic Agents Phase 3,Phase 1,Phase 2
45 Antiparasitic Agents Phase 2, Phase 3,Phase 1
46 Antiprotozoal Agents Phase 2, Phase 3,Phase 1
47 Hypoglycemic Agents Phase 2, Phase 3,Phase 1
48 Incretins Phase 2, Phase 3
49 diuretics Phase 2, Phase 3
50 Diuretics, Potassium Sparing Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 163)
id Name Status NCT ID Phase
1 Upper Facial Remodeling With Perlane-L and Dysport Completed NCT01354743 Phase 4
2 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4
3 PreView PHP Preferential Hyperacuity Perimeter for the Detection of Choroidal Neovascularization Completed NCT00358345 Phase 4
4 Assessment of Early Changes in SD-OCT After Initiation of a Treatment by Intravitreal Aflibercept (EYLEA®)START Completed NCT02246829 Phase 4
5 Citicoline Effect on Non-arteritic Anterior Ischemic Optic Neuropathy (NAION) Recruiting NCT03046693 Phase 4
6 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
7 Treatment of Soft Tissue Expansion in Inactive Thyroid Eye Disease Patients Using Drops of Prostaglandin Analogues Unknown status NCT02155049 Phase 3
8 TTT Versus PDT for Treatment of Choroidal Neovascularization in Age-Related Macular Degeneration Unknown status NCT00260403 Phase 2, Phase 3
9 Physiopathological Study and Pharmacological Modulation of Cutaneous Atrophy's Markers Induced by Glucocorticoids Unknown status NCT00709579 Phase 3
10 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3
11 Oculomotor Testing in the Differential Diagnosis of Dementia Completed NCT01577394 Phase 3
12 Lipoic Acid for Secondary Progressive Multiple Sclerosis (MS) Completed NCT01188811 Phase 2, Phase 3
13 Study to Evaluate the Safety and Efficacy of Davunetide for the Treatment of Progressive Supranuclear Palsy Completed NCT01110720 Phase 2, Phase 3
14 Erythropoietin in Methanol Associated Optic Neuropathy: A Phase-2 Clinical Trial (EPO-MAON Study) Recruiting NCT02376881 Phase 3
15 Treatment of Optic Neuritis With Erythropoietin: a Randomised, Double-blind, Placebo-controlled Trial Recruiting NCT01962571 Phase 3
16 Safety and Efficacy Study of Gene Therapy for The Treatment of Leber's Hereditary Optic Neuropathy Recruiting NCT03153293 Phase 2, Phase 3
17 Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 Mutation Recruiting NCT02652767 Phase 3
18 Clinical Study to Evaluate Treatment With ORACEA® for Geographic Atrophy (TOGA) Recruiting NCT01782989 Phase 2, Phase 3
19 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
20 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Active, not recruiting NCT02878694 Phase 2, Phase 3
21 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy Not yet recruiting NCT02882477 Phase 2, Phase 3
22 A Study of the Beneficial Effects of Eplerenone on Central Serous Chorioretinopathy Not yet recruiting NCT02215330 Phase 2, Phase 3
23 Safety and Effectiveness Investigation for Dry, Non-Exudative Age Related Macular Degeneration (AMD) Using Rheopheresis Suspended NCT00460967 Phase 3
24 Efficacy and Safety Study of MC-1101 1% TID in the Treatment of Nonexudative Age-Related Macular Degeneration Terminated NCT01601483 Phase 2, Phase 3
25 Omega 6:Omega 3 Ratio and Progression of Age-related Macular Degeneration (AMD). Terminated NCT00987129 Phase 3
26 Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS) Terminated NCT00211224 Phase 3
27 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
28 Amiloride Hydrochlorothiazide as Treatment of Acute Inflammation of the Optic Nerve Unknown status NCT01879527 Phase 2
29 Efficacy, Safety and Tolerability of Andrographolides Versus Placebo in Patients With Progressive Forms of MS Unknown status NCT02273635 Phase 1, Phase 2
30 Tools to Optimize Patient Presentation After Onset of Exudative Age-Related Macular Degeneration (AMD) Unknown status NCT01337414 Phase 2
31 Pilot Study to Evaluate the Safety and Efficacy of Treatment With ORA102 Combined With Avastin (Bevacizumab) Versus Avastin Alone, in Patients With Neovascular Age Related Macular Degeneration (AMD) Unknown status NCT00745511 Phase 1, Phase 2
32 Safety Study of Use of Autologous Bone Marrow Derived Stem Cell in Treatment of Age Related Macular Degeneration Unknown status NCT02016508 Phase 1, Phase 2
33 Study to Assess Efficacy,Safety and Tolerability of Idebenone in the Treatment of Leber's Hereditary Optic Neuropathy Completed NCT00747487 Phase 2
34 OT-551 Antioxidant Eye Drops to Treat Geographic Atrophy in Age-Related Macular Degeneration Completed NCT00306488 Phase 2
35 Pilot Study of the Evaluation of Subconjunctival Sirolimus in the Treatment of Bilateral GA Associated With AMD Completed NCT00766649 Phase 1, Phase 2
36 Sirolimus for Advanced Age-Related Macular Degeneration Completed NCT01445548 Phase 1, Phase 2
37 Complement Inhibition With Eculizumab for the Treatment of Non-Exudative Macular Degeneration (AMD) Completed NCT00935883 Phase 2
38 Evaluation of Birdshot Retine Choroidopathy Treatment by Either Steroid or Interferon alpha2a Completed NCT00508040 Phase 2
39 Toronto and Oak Ridge Photobiomodulation Study for Dry Age Related Macular Degeneration Completed NCT00940407 Phase 2
40 Evaluation of Oral Minocycline in the Treatment of Geographic Atrophy Associated With Age-Related Macular Degeneration Recruiting NCT02564978 Phase 2
41 Study of Subretinal Implantation of Human Embryonic Stem Cell-Derived RPE Cells in Advanced Dry AMD Recruiting NCT02590692 Phase 1, Phase 2
42 Alpha Lipoic Acid in Geographic Atrophy Recruiting NCT02613572 Phase 1, Phase 2
43 Safety and Efficacy Study of OpRegen for Treatment of Advanced Dry-Form Age-Related Macular Degeneration Recruiting NCT02286089 Phase 1, Phase 2
44 Targeting Residual Activity By Precision, Biomarker-Guided Combination Therapies of Multiple Sclerosis (TRAP-MS) Recruiting NCT03109288 Phase 1, Phase 2
45 Metformin for the Minimization of Geographic Atrophy Progression in Patients With AMD Recruiting NCT02684578 Phase 2
46 Trial of Oral Glutamine on Mitochondrial Function in CKD Recruiting NCT02838979 Phase 2
47 Prophylactic Ranibizumab for Exudative Age-related Macular Degeneration Recruiting NCT02140151 Phase 1, Phase 2
48 A Safety Study of CNTO 2476 in Patients With Age-Related Macular Degeneration Active, not recruiting NCT01226628 Phase 1, Phase 2
49 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
50 Safety Evaluation of Gene Therapy in Leber Hereditary Optic Neuropathy (LHON) Patients Active, not recruiting NCT02064569 Phase 1, Phase 2

Search NIH Clinical Center for Primary Optic Atrophy

Genetic Tests for Primary Optic Atrophy

Anatomical Context for Primary Optic Atrophy

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
Some ischemic changes that cause primary optic atrophy. ( 5552028 )
1971
7
Primary optic atrophy vs glaucomatous optic atrophy. ( 5566105 )
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
Syphilitic primary optic atrophy. ( 18149023 )
1949
20
Penicillin treatment of syphilitic primary optic atrophy; an interim report. ( 18121296 )
1949
21
The treatment of syphilitic primary optic atrophy with penicillin and with penicillin and malaria. ( 18113374 )
1949
22
Syphilitic primary optic atrophy as a cause of blindness; importance of early diagnosis. ( 18895276 )
1948
23
The frequency of syphilitic primary optic atrophy in dementia paralytica; a clinico-anatomic study. ( 18864981 )
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

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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