OPA1
MCID: OPT053
MIFTS: 43

Optic Atrophy 1 (OPA1) malady

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

Aliases & Classifications for Optic Atrophy 1

Aliases & Descriptions for Optic Atrophy 1:

Name: Optic Atrophy 1 54 50 66 13
Optic Atrophy Type 1 23 24 25
Optic Atrophy, Autosomal Dominant 25 69
Optic Atrophy, Kjer Type 50 25
Kjer-Type Optic Atrophy 50 66
Optic Atrophy, Juvenile 50 25
Kjer Type Optic Atrophy 24 25
Opa1 50 66
Oak 50 66
Optic Atrophy, Hereditary, Autosomal Dominant 25
Autosomal Dominant Optic Atrophy Kjer Type 25
Autosomal Dominant Optic Atrophy 25
Optic Atrophy Autosomal Dominant 52
Optic Atrophy Kjer Type 66
Dominant Optic Atrophy 25
Optic Atrophy Juvenile 66
Kjer's Optic Atrophy 25
Adoa 25
Doa 25

Characteristics:

GeneReviews:

23
optic atrophy 1:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance insidious onset


GeneReviews:

23
Penetrance The estimated penetrance of 98% in opa1 has been revised in the light of molecular genetic studies. penetrance varies from family to family and pathogenic variant to pathogenic variant. it has been reported as high as 100% (variant c.1065+1g>t, resulting in exon 12 skipping) [thiselton et al 2002] and as low as 43% (variant c.2708_2711delttag in exon 27) [toomes et al 2001]. in these two studies the clinical diagnosis was made on the basis of reduced visual acuity, abnormal color discrimination, fundus examination showing temporal pallor of the optic disc, and electrophysiology studies [toomes et al 2001, thiselton et al 2002]...

Classifications:



External Ids:

OMIM 54 165500
MedGen 40 C0338508
MeSH 42 D029241

Summaries for Optic Atrophy 1

OMIM : 54 Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with... (165500) more...

MalaCards based summary : Optic Atrophy 1, also known as optic atrophy type 1, is related to optic atrophy 1 and deafness and autosomal dominant optic atrophy, classic form, and has symptoms including ataxia, visual impairment and optic atrophy. An important gene associated with Optic Atrophy 1 is OPA1 (OPA1, Mitochondrial Dynamin Like GTPase), and among its related pathways/superpathways is Apoptosis and Autophagy. The drugs Pimecrolimus and Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include retina and lung.

Genetics Home Reference : 25 Optic atrophy type 1 is a condition that affects vision. Individuals with this condition have progressive vision loss that typically begins within the first decade of life. The severity of the vision loss varies widely among affected people, even among members of the same family. People with this condition can range from having nearly normal vision to complete blindness. The vision loss usually progresses slowly.

NIH Rare Diseases : 50 optic atrophy 1 is a condition that mainly affects vision, but may include other features. vision loss typically begins within the first decade of life; severity varies widely among affected people (from nearly normal vision to complete blindness), even among members of the same family. vision problems may include difficulty distinguishing colors, progressive narrowing of the field of vision (tunnel vision) and an abnormally pale appearance (pallor) of the optic nerve. additional, less common abnormalities may include sensorineural hearing loss, ataxia, myopathy (muscle disease) and other neurological findings. it is usually caused by mutations in the opa1 gene, although some individuals with optic atrophy 1 do not have identified mutations in this gene, in which case the cause of the condition is unknown. this condition is inherited in an autosomal dominant pattern but some cases result from a new mutation in the gene and occur in people with no history of the disorder in their family. treatment focuses on individual symptoms when possible. last updated: 12/22/2010

UniProtKB/Swiss-Prot : 66 Optic atrophy 1: A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA1 is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disk pallor, color vision deficits, and centrocecal scotoma of variable density.

GeneReviews: NBK1248

Related Diseases for Optic Atrophy 1

Graphical network of the top 20 diseases related to Optic Atrophy 1:



Diseases related to Optic Atrophy 1

Symptoms & Phenotypes for Optic Atrophy 1

Symptoms by clinical synopsis from OMIM:

165500

Clinical features from OMIM:

165500

Human phenotypes related to Optic Atrophy 1:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 visual impairment 32 HP:0000505
3 optic atrophy 32 HP:0000648
4 strabismus 32 HP:0000486
5 reduced visual acuity 32 HP:0007663
6 progressive external ophthalmoplegia 32 HP:0000590
7 central scotoma 32 HP:0000603
8 centrocecal scotoma 32 HP:0000576
9 proximal muscle weakness 32 HP:0003701
10 horizontal nystagmus 32 HP:0000666
11 tritanomaly 32 HP:0000552
12 red-green dyschromatopsia 32 HP:0000642
13 abnormal amplitude of pattern reversal visual evoked potentials 32 HP:0000650

Drugs & Therapeutics for Optic Atrophy 1

Drugs for Optic Atrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 180)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pimecrolimus Approved, Investigational Phase 4 137071-32-0 6447131 17753757
2
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
3
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 3 616-91-1 12035
4
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
5
Acetylcholine Approved Phase 4 51-84-3 187
6 Analgesics Phase 4,Phase 3,Phase 1,Phase 2
7 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 1,Phase 2
8 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 1,Phase 2
10 Antirheumatic Agents Phase 4,Phase 3,Phase 1,Phase 2
11 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2
12 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
13 Antiviral Agents Phase 4,Phase 2,Phase 3,Phase 1
14 Calcineurin Inhibitors Phase 4
15 Dermatologic Agents Phase 4
16 Immunosuppressive Agents Phase 4,Phase 1,Phase 2
17 Antidotes Phase 4,Phase 2,Phase 3
18 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1
19 Expectorants Phase 4,Phase 2,Phase 3
20 N-monoacetylcystine Phase 4,Phase 2,Phase 3
21 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1
22 Respiratory System Agents Phase 4,Phase 2,Phase 3,Phase 1
23 abobotulinumtoxinA Phase 4
24 Botulinum Toxins Phase 4
25 Botulinum Toxins, Type A Phase 4
26 Cholinergic Agents Phase 4
27 incobotulinumtoxinA Phase 4
28 Neuromuscular Agents Phase 4,Phase 1,Phase 2
29 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
30 onabotulinumtoxinA Phase 4
31
Bevacizumab Approved, Investigational Phase 3,Phase 1,Phase 2 216974-75-3
32
Ranibizumab Approved Phase 3,Phase 1,Phase 2 347396-82-1 459903
33
Riluzole Approved, Investigational Phase 3,Phase 2 1744-22-5 5070
34
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
35
Iron Approved Phase 2, Phase 3 7439-89-6 23925
36
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
37
Eplerenone Approved Phase 2, Phase 3 107724-20-9 150310 443872
38
Spironolactone Approved Phase 2, Phase 3 1952-01-7, 52-01-7 5833
39
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 1 59-30-3 6037
40 Ophthalmic Solutions Phase 2, Phase 3, Phase 1
41 Pharmaceutical Solutions Phase 2, Phase 3, Phase 1
42 glucocorticoids Phase 3,Phase 2
43 Hormone Antagonists Phase 3,Phase 2,Phase 1
44 Hormones Phase 3,Phase 2,Phase 1
45 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1
46 Hypoglycemic Agents Phase 2, Phase 3,Phase 1
47 Incretins Phase 2, Phase 3
48 diuretics Phase 2, Phase 3
49 Diuretics, Potassium Sparing Phase 2, Phase 3
50 Natriuretic Agents Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 136)
id Name Status NCT ID Phase
1 Reconstitution With Pimecrolimus Cream 1% of Steroid-damaged Skin in Adults With Atopic Dermatitis Completed NCT00367393 Phase 4
2 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4
3 Upper Facial Remodeling With Perlane-L and Dysport Completed NCT01354743 Phase 4
4 PreView PHP Preferential Hyperacuity Perimeter for the Detection of Choroidal Neovascularization Completed NCT00358345 Phase 4
5 Assessment of Early Changes in SD-OCT After Initiation of a Treatment by Intravitreal Aflibercept (EYLEA®)START Completed NCT02246829 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 Physiopathological Study and Pharmacological Modulation of Cutaneous Atrophy's Markers Induced by Glucocorticoids Unknown status NCT00709579 Phase 3
8 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3
9 Complications of Age-Related Macular Degeneration Prevention Trial Completed NCT00000167 Phase 3
10 Lipoic Acid for Secondary Progressive Multiple Sclerosis (MS) Completed NCT01188811 Phase 2, Phase 3
11 Treatment of Optic Neuritis With Erythropoietin: a Randomised, Double-blind, Placebo-controlled Trial Recruiting NCT01962571 Phase 3
12 Safety and Efficacy Study of Gene Therapy for The Treatment of Leber's Hereditary Optic Neuropathy Recruiting NCT03153293 Phase 2, Phase 3
13 Long-Term Safety of Lampalizumab Intravitreal (ITV) Injections in Participants With Geographic Atrophy (GA) Secondary to Age-Related Macular Degeneration (OMASPECT) Recruiting NCT02745119 Phase 3
14 A Phase 2/3 Trial to Assess the Safety and Efficacy of Intravitreous Administration of Zimura® (Anti-C5 Aptamer) in Subjects With Geographic Atrophy Secondary to Dry Age-Related Macular Degeneration Recruiting NCT02686658 Phase 2, Phase 3
15 A Study Investigating the Safety and Efficacy of Lampalizumab Intravitreal Injections in Patients With Geographic Atrophy Secondary to Age-Related Macular Degeneration (SPECTRI) Recruiting NCT02247531 Phase 3
16 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
17 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy Not yet recruiting NCT02882477 Phase 2, Phase 3
18 A Study of the Beneficial Effects of Eplerenone on Central Serous Chorioretinopathy Not yet recruiting NCT02215330 Phase 2, Phase 3
19 Safety and Effectiveness Investigation for Dry, Non-Exudative Age Related Macular Degeneration (AMD) Using Rheopheresis Suspended NCT00460967 Phase 3
20 Geographic Atrophy Treatment Evaluation Terminated NCT00890097 Phase 3
21 Efficacy and Safety Study of MC-1101 1% TID in the Treatment of Nonexudative Age-Related Macular Degeneration Terminated NCT01601483 Phase 2, Phase 3
22 Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS) Terminated NCT00211224 Phase 3
23 Safety and Efficacy Study of BCD-021 Compared to Lucentis® in Patients With Neovascular Wet Age-related Macular Degeneration Withdrawn NCT02036723 Phase 3
24 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
25 Amiloride Hydrochlorothiazide as Treatment of Acute Inflammation of the Optic Nerve Unknown status NCT01879527 Phase 2
26 The OMEGA Study: Use of Eye Drops to Treat Geographic Atrophy Associated With Age-Related Macular Degeneration (Dry AMD) Unknown status NCT00485394 Phase 2
27 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
28 Efficacy, Safety and Tolerability of Andrographolides Versus Placebo in Patients With Progressive Forms of MS Unknown status NCT02273635 Phase 1, Phase 2
29 Tools to Optimize Patient Presentation After Onset of Exudative Age-Related Macular Degeneration (AMD) Unknown status NCT01337414 Phase 2
30 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
31 Safety and Efficacy Study of Erythropoietin as add-on Therapy of Methylprednisolone to Treat Acute Optic Neuritis Completed NCT00355095 Phase 2
32 Safety and Efficacy of Brimonidine Intravitreal Implant in Patients With Geographic Atrophy Due to Age-related Macular Degeneration (AMD) Completed NCT00658619 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 Sirolimus for Advanced Age-Related Macular Degeneration Completed NCT01445548 Phase 1, 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 A Study of an Encapsulated Cell Technology (ECT) Implant for Patients With Atrophic Macular Degeneration Completed NCT00447954 Phase 2
37 A Study of MTP-131 Topical Ophthalmic Solution in Subjects With Diabetic Macular Edema and Non-Exudative Intermediate Age-related Macular Degeneration Completed NCT02314299 Phase 1, Phase 2
38 Study of Human Central Nervous System Stem Cells (HuCNS-SC) in Age-Related Macular Degeneration (AMD) Completed NCT01632527 Phase 1, Phase 2
39 Safety and Tolerability of Sub-retinal Transplantation of hESC Derived RPE (MA09-hRPE) Cells in Patients With Advanced Dry Age Related Macular Degeneration Completed NCT01344993 Phase 1, Phase 2
40 Clinical Study to Investigate Safety and Efficacy of GSK933776 in Adult Patients With Geographic Atrophy Secondary to Age-related Macular Degeneration Completed NCT01342926 Phase 2
41 Toronto and Oak Ridge Photobiomodulation Study for Dry Age Related Macular Degeneration Completed NCT00940407 Phase 2
42 Study of Fenretinide in the Treatment of Geographic Atrophy Associated With Dry Age-Related Macular Degeneration Completed NCT00429936 Phase 2
43 To Evaluate the Pharmacodynamics, Safety, and Pharmacokinetics of Pazopanib Drops in Adult Subjects With Neovascular AMD Completed NCT00612456 Phase 2
44 A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome Recruiting NCT02829268 Phase 1, Phase 2
45 Study of Subretinal Implantation of Human Embryonic Stem Cell-Derived RPE Cells in Advanced Dry AMD Recruiting NCT02590692 Phase 1, Phase 2
46 Evaluation of Oral Minocycline in the Treatment of Geographic Atrophy Associated With Age-Related Macular Degeneration Recruiting NCT02564978 Phase 2
47 BioCurrent Electrical Stimulation for the Treatment of Dry ARMD Recruiting NCT02699216 Phase 1, Phase 2
48 An Extension Study to Evaluate the Long-Term Safety of Lampalizumab in Participants With Geographic Atrophy Recruiting NCT01602120 Phase 2
49 Alpha Lipoic Acid in Geographic Atrophy Recruiting NCT02613572 Phase 1, Phase 2
50 A Study to Evaluate the Safety and Clinical Response of Subretinal Administration of CNTO 2476 in Participants With Geographic Atrophy Recruiting NCT02659098 Phase 2

Search NIH Clinical Center for Optic Atrophy 1

Genetic Tests for Optic Atrophy 1

Genetic tests related to Optic Atrophy 1:

id Genetic test Affiliating Genes
1 Optic Atrophy Type 1 24 OPA1

Anatomical Context for Optic Atrophy 1

MalaCards organs/tissues related to Optic Atrophy 1:

39
Retina, Lung

Publications for Optic Atrophy 1

Articles related to Optic Atrophy 1:

id Title Authors Year
1
Dominant optic atrophy: updates on the pathophysiology and clinical manifestations of the optic atrophy 1 mutation. ( 27585216 )
2016
2
Optic Atrophy 1 Is Epistatic to the Core MICOS Component MIC60 in Mitochondrial Cristae Shape Control. ( 27974214 )
2016
3
Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome). ( 27879217 )
2016
4
Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy. ( 23401657 )
2013
5
Optic atrophy 1 mediates mitochondria remodeling and dopaminergic neurodegeneration linked to complex I deficiency. ( 22858546 )
2013
6
Overexpression of optic atrophy 1 protein increases cisplatin resistance via inactivation of caspase-dependent apoptosis in lung adenocarcinoma cells. ( 21798574 )
2012
7
The mitochondrial inner membrane GTPase, optic atrophy 1 (Opa1), restores mitochondrial morphology and promotes neuronal survival following excitotoxicity. ( 21041314 )
2011
8
Optic atrophy 1 is an A-kinase anchoring protein on lipid droplets that mediates adrenergic control of lipolysis. ( 21983901 )
2011

Variations for Optic Atrophy 1

UniProtKB/Swiss-Prot genetic disease variations for Optic Atrophy 1:

66 (show all 49)
id Symbol AA change Variation ID SNP ID
1 OPA1 p.Arg290Gln VAR_011483 rs121908375
2 OPA1 p.Gly300Glu VAR_011484 rs28939082
3 OPA1 p.Arg445His VAR_015741 rs80356529
4 OPA1 p.Leu396Arg VAR_022927 rs727504060
5 OPA1 p.Thr503Lys VAR_022928
6 OPA1 p.Arg571His VAR_022929 rs140606054
7 OPA1 p.Ser545Arg VAR_026533 rs398124298
8 OPA1 p.Leu939Pro VAR_028370
9 OPA1 p.Ala8Ser VAR_060825 rs794726939
10 OPA1 p.Tyr80Cys VAR_060826 rs151103940
11 OPA1 p.Thr95Met VAR_060827 rs201214736
12 OPA1 p.Tyr102Cys VAR_060828 rs530896300
13 OPA1 p.Glu270Lys VAR_060829
14 OPA1 p.Leu272Pro VAR_060830
15 OPA1 p.Asp273Ala VAR_060831
16 OPA1 p.Arg290Trp VAR_060832 rs780333963
17 OPA1 p.Gln310Arg VAR_060834 rs770966290
18 OPA1 p.Ala357Thr VAR_060836 rs190223702
19 OPA1 p.Ile382Met VAR_060837 rs143319805
20 OPA1 p.Leu384Phe VAR_060838
21 OPA1 p.Leu396Pro VAR_060839
22 OPA1 p.Asn430Asp VAR_060841
23 OPA1 p.Asp438Val VAR_060842
24 OPA1 p.Thr449Arg VAR_060843
25 OPA1 p.Lys468Glu VAR_060845
26 OPA1 p.Asp470Gly VAR_060846
27 OPA1 p.Glu487Lys VAR_060847
28 OPA1 p.Lys505Asn VAR_060848
29 OPA1 p.Cys551Tyr VAR_060851
30 OPA1 p.Leu574Pro VAR_060852
31 OPA1 p.Arg590Gln VAR_060854 rs147077380
32 OPA1 p.Arg590Trp VAR_060855 rs778998909
33 OPA1 p.Leu593Pro VAR_060856
34 OPA1 p.Ser646Leu VAR_060857
35 OPA1 p.Asn728Lys VAR_060859
36 OPA1 p.Gly768Asp VAR_060860
37 OPA1 p.Arg781Trp VAR_060861 rs190235251
38 OPA1 p.Gln785Arg VAR_060862
39 OPA1 p.Ser823Tyr VAR_060863
40 OPA1 p.Tyr841Cys VAR_060864
41 OPA1 p.Arg882Leu VAR_060865
42 OPA1 p.Leu887Pro VAR_060866
43 OPA1 p.Arg932Cys VAR_060868 rs145710079
44 OPA1 p.Leu949Pro VAR_060869
45 OPA1 p.Pro400Ala VAR_067355
46 OPA1 p.Thr330Ser VAR_072125
47 OPA1 p.Val377Ile VAR_072126 rs780922750
48 OPA1 p.Gly439Val VAR_072127 rs387906900
49 OPA1 p.Gly459Glu VAR_072129

ClinVar genetic disease variations for Optic Atrophy 1:

6 (show all 43)
id Gene Variation Type Significance SNP ID Assembly Location
1 OPA1 NM_015560.2(OPA1): c.899G> A (p.Gly300Glu) single nucleotide variant Pathogenic rs28939082 GRCh37 Chromosome 3, 193355769: 193355769
2 OPA1 NM_015560.2(OPA1): c.985-1G> A single nucleotide variant Pathogenic rs879255510 GRCh38 Chromosome 3, 193642764: 193642764
3 OPA1 NM_015560.2(OPA1): c.2708_2711delTTAG (p.Val903Glyfs) deletion Pathogenic rs80356530 GRCh37 Chromosome 3, 193384959: 193384962
4 OPA1 NM_015560.2(OPA1): c.2825_2828delTTAG (p.Val942Glufs) deletion Pathogenic rs879255560 GRCh37 Chromosome 3, 193409858: 193409861
5 OPA1 NM_015560.2(OPA1): c.869G> A (p.Arg290Gln) single nucleotide variant Pathogenic rs121908375 GRCh37 Chromosome 3, 193355069: 193355069
6 OPA1 NM_015560.2(OPA1): c.1096C> T (p.Arg366Ter) single nucleotide variant Pathogenic rs104893753 GRCh37 Chromosome 3, 193360794: 193360794
7 OPA1 NM_015560.2(OPA1): c.1296_1298delCAT (p.Ile433del) deletion Pathogenic rs879255511 GRCh37 Chromosome 3, 193361400: 193361402
8 OPA1 NM_015560.2(OPA1): c.1354delG (p.Val452Serfs) deletion Pathogenic rs879255512 GRCh38 Chromosome 3, 193644016: 193644016
9 OPA1 NM_015560.2(OPA1): c.2826delT (p.Arg943Glufs) deletion Pathogenic rs80356531 GRCh37 Chromosome 3, 193409859: 193409859
10 OPA1 NM_015560.2(OPA1): c.1745A> G (p.Tyr582Cys) single nucleotide variant Pathogenic rs121908376 GRCh37 Chromosome 3, 193365898: 193365898
11 OPA1 NM_015560.2(OPA1): c.1334G> A (p.Arg445His) single nucleotide variant Pathogenic rs80356529 GRCh37 Chromosome 3, 193361785: 193361785
12 OPA1 NM_015560.2(OPA1): c.2848_2849delGA (p.Asp950Cysfs) deletion Pathogenic rs879255513 GRCh38 Chromosome 3, 193692092: 193692093
13 OPA1 NM_015560.2(OPA1): c.1065+1G> T single nucleotide variant Pathogenic rs80356528 GRCh37 Chromosome 3, 193360635: 193360635
14 OPA1 NM_015560.2(OPA1): c.1294A> G (p.Ile432Val) single nucleotide variant Pathogenic rs387906899 GRCh37 Chromosome 3, 193361398: 193361398
15 OPA1 NM_130837.2(OPA1): c.1800C> G (p.Ser600Arg) single nucleotide variant Pathogenic rs398124298 GRCh37 Chromosome 3, 193364899: 193364899
16 OPA1 NM_015560.2(OPA1): c.1316G> T (p.Gly439Val) single nucleotide variant Pathogenic rs387906900 GRCh37 Chromosome 3, 193361767: 193361767
17 OPA1 NM_015560.2(OPA1): c.2729T> A (p.Val910Asp) single nucleotide variant Pathogenic rs387906901 GRCh37 Chromosome 3, 193384980: 193384980
18 OPA1 NM_130837.2(OPA1): c.740G> A (p.Arg247His) single nucleotide variant Pathogenic rs138350727 GRCh37 Chromosome 3, 193343942: 193343942
19 OPA1 NM_015560.2(OPA1): c.1352delT (p.Leu451Trpfs) deletion Pathogenic rs398124297 GRCh37 Chromosome 3, 193361803: 193361803
20 OPA1 NM_015560.2(OPA1): c.1635C> A (p.Ser545Arg) single nucleotide variant Pathogenic rs398124298 GRCh37 Chromosome 3, 193364899: 193364899
21 OPA1 NM_015560.2(OPA1): c.1669C> T (p.Arg557Ter) single nucleotide variant Pathogenic rs398124299 GRCh37 Chromosome 3, 193364933: 193364933
22 OPA1 NM_015560.2(OPA1): c.2257C> T (p.Gln753Ter) single nucleotide variant Pathogenic rs398124301 GRCh37 Chromosome 3, 193376766: 193376766
23 OPA1 NM_015560.2(OPA1): c.983A> G (p.Lys328Arg) single nucleotide variant Pathogenic rs398124303 GRCh37 Chromosome 3, 193355853: 193355853
24 OPA1 NM_015560.2(OPA1): c.1187T> G (p.Leu396Arg) single nucleotide variant Pathogenic rs727504060 GRCh37 Chromosome 3, 193361208: 193361208
25 OPA1 NM_015560.2(OPA1): c.533T> A (p.Leu178Ter) single nucleotide variant Pathogenic rs727504058 GRCh37 Chromosome 3, 193335051: 193335051
26 OPA1 NM_015560.2(OPA1): c.870+1G> A single nucleotide variant Pathogenic rs727504059 GRCh37 Chromosome 3, 193355071: 193355071
27 OPA1 NM_015560.2(OPA1): c.2883A> C (p.Ter961Tyr) single nucleotide variant Likely pathogenic rs143929819 GRCh37 Chromosome 3, 193409916: 193409916
28 OPA1 NM_015560.2(OPA1): c.1199C> T (p.Pro400Leu) single nucleotide variant Likely pathogenic rs794727069 GRCh37 Chromosome 3, 193361220: 193361220
29 OPA1 NM_015560.2(OPA1): c.292_301delTTAAAACTTC (p.Leu98Alafs) deletion Pathogenic rs794727289 GRCh37 Chromosome 3, 193332771: 193332780
30 OPA1 NM_015560.2(OPA1): c.2059_2060delGA (p.Glu687Thrfs) deletion Pathogenic rs794727345 GRCh37 Chromosome 3, 193374914: 193374915
31 OPA1 NM_015560.2(OPA1): c.2496+1G> T single nucleotide variant Pathogenic rs794727392 GRCh37 Chromosome 3, 193380752: 193380752
32 OPA1 NM_015560.2(OPA1): c.2569C> T (p.Arg857Ter) single nucleotide variant Pathogenic rs794727405 GRCh37 Chromosome 3, 193382741: 193382741
33 OPA1 NM_015560.2(OPA1): c.635_636delAA (p.Lys212Argfs) deletion Pathogenic rs794727804 GRCh37 Chromosome 3, 193349411: 193349412
34 OPA1 NM_015560.2(OPA1): c.2131C> T (p.Arg711Ter) single nucleotide variant Likely pathogenic rs863224906 GRCh37 Chromosome 3, 193374986: 193374986
35 OPA1 NM_015560.2(OPA1): c.728T> A (p.Leu243Ter) single nucleotide variant Pathogenic rs863225274 GRCh37 Chromosome 3, 193353256: 193353256
36 OPA1 NM_015560.2(OPA1): c.1067_1068dupTT (p.Ala357Leufs) duplication Pathogenic rs863225275 GRCh37 Chromosome 3, 193360765: 193360766
37 OPA1 NM_015560.2(OPA1): c.1202G> A (p.Gly401Asp) single nucleotide variant Pathogenic rs863225276 GRCh37 Chromosome 3, 193361223: 193361223
38 OPA1 NM_015560.2(OPA1): c.1310A> G (p.Gln437Arg) single nucleotide variant Pathogenic rs863225277 GRCh37 Chromosome 3, 193361414: 193361414
39 OPA1 NM_130837.2(OPA1): c.1817G> A (p.Cys606Tyr) single nucleotide variant Pathogenic rs879255592 GRCh37 Chromosome 3, 193364916: 193364916
40 OPA1 NM_015560.2(OPA1): c.985-2A> G single nucleotide variant Pathogenic rs886041317 GRCh37 Chromosome 3, 193360552: 193360552
41 OPA1 NM_015560.2(OPA1): c.1140+1G> A single nucleotide variant Pathogenic rs745927258 GRCh37 Chromosome 3, 193360839: 193360839
42 OPA1 NM_015560.2(OPA1): c.2822_2823delAA (p.Lys941Serfs) deletion Pathogenic rs886043136 GRCh37 Chromosome 3, 193409855: 193409856
43 OPA1 NM_130837.2(OPA1): c.2816dupA (p.Arg940Alafs) duplication Pathogenic rs886043317 GRCh37 Chromosome 3, 193384122: 193384122

Expression for Optic Atrophy 1

Search GEO for disease gene expression data for Optic Atrophy 1.

Pathways for Optic Atrophy 1

Pathways related to Optic Atrophy 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.89 CYCS OPA1

GO Terms for Optic Atrophy 1

Cellular components related to Optic Atrophy 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.26 CYCS DNM3 MFN2 OPA1
2 mitochondrial outer membrane GO:0005741 9.16 MFN2 OPA1
3 mitochondrial intermembrane space GO:0005758 8.62 CYCS OPA1

Biological processes related to Optic Atrophy 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.5 CYCS MFN2 OPA1
2 mitochondrion organization GO:0007005 9.26 CYCS OPA1
3 mitochondrial fission GO:0000266 9.16 DNM3 OPA1
4 mitochondrial fusion GO:0008053 8.96 MFN2 OPA1
5 dynamin family protein polymerization involved in mitochondrial fission GO:0003374 8.62 DNM3 OPA1

Molecular functions related to Optic Atrophy 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.16 DNM3 OPA1
2 GTP binding GO:0005525 9.13 DNM3 MFN2 OPA1
3 GTPase activity GO:0003924 8.8 DNM3 MFN2 OPA1

Sources for Optic Atrophy 1

3 CDC
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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