MCID: OPT053
MIFTS: 46

Optic Atrophy 1

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

Aliases & Classifications for Optic Atrophy 1

MalaCards integrated aliases for Optic Atrophy 1:

Name: Optic Atrophy 1 54 50 71 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 71
Optic Atrophy, Juvenile 50 25
Kjer Type Optic Atrophy 24 25
Opa1 50 71
Oak 50 71
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 71
Dominant Optic Atrophy 25
Optic Atrophy Juvenile 71
Kjer's Optic Atrophy 25
Adoa 25
Doa 25

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
phenotypic variability
incomplete penetrance
insidious onset
bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years)
prevalence ranges from 1 in 12,000 to 1 in 50,000
see also optic atrophy with deafness , an allelic disorder


HPO:

32
optic atrophy 1:
Onset and clinical course incomplete penetrance insidious onset
Inheritance autosomal dominant inheritance


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:



Summaries for Optic Atrophy 1

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

MalaCards based summary : Optic Atrophy 1, also known as optic atrophy type 1, is related to behr syndrome and optic atrophy 1 and deafness, and has symptoms including visual impairment, optic atrophy and ataxia. 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 Acetylcysteine and Deferiprone have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and lung.

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 25 Optic atrophy type 1 is a condition that often causes slowly worsening vision, usually beginning in childhood. People with optic atrophy type 1 typically experience a narrowing of their field of vision (tunnel vision). Affected individuals gradually lose their sight as their field of vision becomes smaller. Both eyes are usually affected equally, but the severity of the vision loss varies widely, even among affected members of the same family, ranging from nearly normal vision to complete blindness.

OMIM : 54
Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density (Votruba et al., 1998). Some patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia; see 125250. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010). Yu-Wai-Man et al. (2009) provided a detailed review of autosomal dominant optic atrophy and Leber hereditary optic neuropathy (LHON; 535000), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders. (165500)

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 via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
optic atrophy
decreased visual acuity
central scotoma
temporal optic nerve pallor
blue-yellow dyschromatopsia
more

Clinical features from OMIM:

165500

Human phenotypes related to Optic Atrophy 1:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 optic atrophy 32 HP:0000648
3 ataxia 32 very rare (1%) HP:0001251
4 strabismus 32 very rare (1%) HP:0000486
5 horizontal nystagmus 32 very rare (1%) HP:0000666
6 reduced visual acuity 32 HP:0007663
7 central scotoma 32 HP:0000603
8 proximal muscle weakness 32 very rare (1%) HP:0003701
9 red-green dyschromatopsia 32 HP:0000642
10 centrocecal scotoma 32 HP:0000576
11 progressive external ophthalmoplegia 32 very rare (1%) HP:0000590
12 tritanomaly 32 HP:0000552
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 97)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
2
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
3
Iron Approved Phase 2, Phase 3 7439-89-6 23925
4
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
5
Curcumin Investigational Phase 3 458-37-7 969516
6 Ophthalmic Solutions Phase 2, Phase 3, Phase 1
7 Pharmaceutical Solutions Phase 2, Phase 3
8 Hormone Antagonists Phase 2, Phase 3
9 Hormones Phase 2, Phase 3
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
11 Hypoglycemic Agents Phase 2, Phase 3
12 Incretins Phase 2, Phase 3
13 Analgesics Phase 3
14 Analgesics, Non-Narcotic Phase 3
15 Anti-Inflammatory Agents Phase 3,Phase 2
16 Anti-Inflammatory Agents, Non-Steroidal Phase 3
17 Antioxidants Phase 3,Phase 2
18 Antirheumatic Agents Phase 3
19 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1
20 Epoetin alfa Phase 3,Phase 2 113427-24-0
21 Hematinics Phase 3,Phase 2
22 Anti-Infective Agents Phase 2, Phase 3,Phase 1
23 Protective Agents Phase 2, Phase 3
24 Anesthetics Phase 3,Phase 1,Phase 2
25 Anti-Infective Agents, Local Phase 3
26 Central Nervous System Depressants Phase 3
27 Antidotes Phase 2, Phase 3
28 Antiviral Agents Phase 2, Phase 3
29 Chelating Agents Phase 2, Phase 3
30 Dipeptidyl-Peptidase IV Inhibitors Phase 2, Phase 3
31 Expectorants Phase 2, Phase 3
32 HIV Protease Inhibitors Phase 2, Phase 3
33 Iron Chelating Agents Phase 2, Phase 3
34 N-monoacetylcystine Phase 2, Phase 3
35
protease inhibitors Phase 2, Phase 3
36 Respiratory System Agents Phase 2, Phase 3
37 Sitagliptin Phosphate Phase 2, Phase 3
38
Amiloride Approved Phase 2 2016-88-8, 2609-46-3 16231
39
Hydrochlorothiazide Approved, Vet_approved Phase 2 58-93-5 3639
40
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
41
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
42
Idebenone Approved, Investigational Phase 2 58186-27-9
43
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
44
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
45
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
46
Dantrolene Approved Phase 1, Phase 2 7261-97-4 2952 6914273
47
Minocycline Approved, Investigational Phase 2 10118-90-8 5281021
48
Coal tar Approved Phase 1, Phase 2 8007-45-2
49
Mycophenolate mofetil Approved, Investigational Phase 1, Phase 2 128794-94-5 5281078
50
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541

Interventional clinical trials:

(show top 50) (show all 53)

id Name Status NCT ID Phase Drugs
1 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
2 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3 curcumin
3 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
4 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
5 Treatment of Optic Neuritis With Erythropoietin: a Randomised, Double-blind, Placebo-controlled Trial Active, not recruiting NCT01962571 Phase 3 Erythropoietin alfa;Placebo
6 Efficacy and Safety Study of Bilateral Intravitreal Injection of GS010 for the Treatment of Vision Loss up to 1 Year From Onset in LHON Due to the ND4 Mutation Not yet recruiting NCT03293524 Phase 3 Placebo
7 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
8 Geographic Atrophy Treatment Evaluation Terminated NCT00890097 Phase 3 AL-8309B Ophthalmic Solution;AL-8309B Vehicle
9 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
10 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
11 Amiloride Hydrochlorothiazide as Treatment of Acute Inflammation of the Optic Nerve Unknown status NCT01879527 Phase 2 Amiloride hydrochlorothiazide;Sugar pill
12 The OMEGA Study: Use of Eye Drops to Treat Geographic Atrophy Associated With Age-Related Macular Degeneration (Dry AMD) Unknown status NCT00485394 Phase 2 OT-551;OT-551;vehicle placebo
13 Safety and Efficacy Study of Erythropoietin as add-on Therapy of Methylprednisolone to Treat Acute Optic Neuritis Completed NCT00355095 Phase 2 Erythropoietin
14 Safety and Efficacy of Brimonidine Intravitreal Implant in Patients With Geographic Atrophy Due to Age-related Macular Degeneration (AMD) Completed NCT00658619 Phase 2 400 µg Brimonidine Tartrate Implant;200 µg Brimonidine Tartrate Implant
15 Study to Assess Efficacy,Safety and Tolerability of Idebenone in the Treatment of Leber's Hereditary Optic Neuropathy Completed NCT00747487 Phase 2 Idebenone;Placebo
16 Sirolimus for Advanced Age-Related Macular Degeneration Completed NCT01445548 Phase 1, Phase 2 Sirolimus
17 Pilot Study of the Evaluation of Subconjunctival Sirolimus in the Treatment of Bilateral GA Associated With AMD Completed NCT00766649 Phase 1, Phase 2 Sirolimus
18 A Safety Study of CNTO 2476 in Patients With Age-Related Macular Degeneration Completed NCT01226628 Phase 1, Phase 2
19 A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome Recruiting NCT02829268 Phase 1, Phase 2 dantrolene sodium
20 Study of Subretinal Implantation of Human Embryonic Stem Cell-Derived RPE Cells in Advanced Dry AMD Recruiting NCT02590692 Phase 1, Phase 2
21 Evaluation of Oral Minocycline in the Treatment of Geographic Atrophy Associated With Age-Related Macular Degeneration Recruiting NCT02564978 Phase 2 Minocycline
22 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
23 Safety Evaluation of Gene Therapy in Leber Hereditary Optic Neuropathy (LHON) Patients Active, not recruiting NCT02064569 Phase 1, Phase 2
24 A Safety and Efficacy Study of Brimonidine Intravitreal Implant in Geographic Atrophy Secondary to Age-related Macular Degeneration Active, not recruiting NCT02087085 Phase 2 400 µg Brimonidine Implant
25 Effectiveness and Safety of Adipose-Derived Regenerative Cells for Treatment of Glaucomatous Neurodegeneration Enrolling by invitation NCT02144103 Phase 1, Phase 2
26 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)
27 Near-infrared Light-emitting Diode (NIR-LED) Therapy for Leber's Hereditary Optic Neuropathy (LHON) Terminated NCT01389817 Phase 1, Phase 2
28 Micropulse Laser for Geographic Atrophy Unknown status NCT01799564 Phase 1
29 Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION Patients Completed NCT01064505 Phase 1 QPI-1007 at various doses
30 Gene Therapy for Gyrate Atrophy Completed NCT00001735 Phase 1
31 Safety And Tolerability Study Of RN6G In Subjects With Advanced Dry, Age-Related Macular Degeneration Including Geographic Atrophy Completed NCT01003691 Phase 1
32 Safety Study of a Topical Treatment for Dry Age Related Macular Degeneration Completed NCT01922128 Phase 1 MC-1101, Placebo
33 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)
34 Treatment of Advanced Dry Age Related Macular Degeneration With AAVCAGsCD59 Recruiting NCT03144999 Phase 1
35 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
36 Expression of Optic Atrophy Type 1 (OPA1) Protein in Lung Adenocarcinoma Unknown status NCT01249053
37 Advanced Characterization of Autosomal Dominant Optic Atrophy Unknown status NCT01522638
38 GLP Analogs for Diabetes in Wolfram Syndrome Patients Unknown status NCT01302327 Exenatide
39 High-Resolution Optical Coherence Tomography for Detection of Retinal Nerve Fiber Layer Loss in Band Atrophy of the Optic Nerve Unknown status NCT00607100
40 Retinal Nerve Fiber Layer Thickness Measurement on Parapapillary Atrophy With the Cirrus High-Definition (HD) Optical Coherence Tomography (OCT) Unknown status NCT00742196
41 Transcorneal Electrical Stimulation Therapy for Retinal Disease Completed NCT00804102
42 Optical Coherence Tomography Measurements in Eyes With Band Atrophy Completed NCT00395122
43 New Technology to Differentiate Normal Gastric Mucosa From Helicobacter Pylori Associated Gastritis and Gastric Atrophy Completed NCT02597517
44 Gyrate Atrophy of the Choroid and Retina Completed NCT00001166
45 ORBERA™ Post-Approval Study Recruiting NCT02828657
46 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
47 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
48 Wolfram Syndrome International Registry and Clinical Study Recruiting NCT02841553
49 Tracking Neurodegeneration in Early Wolfram Syndrome Recruiting NCT02455414
50 Optic Neuritis and Ganglion Cell Layer Recruiting NCT02864134

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
Eye, Retina, Lung, Bone, T Cells, Brain

Publications for Optic Atrophy 1

Articles related to Optic Atrophy 1:

(show all 11)
id Title Authors Year
1
T-Cell Intracellular Antigens and Hu Antigen R Antagonistically Modulate Mitochondrial Activity and Dynamics by Regulating Optic Atrophy 1 Gene Expression. ( 28630277 )
2017
2
Optic atrophy 1 mediates coenzyme Q-responsive regulation of respiratory complex IV activity in brain mitochondria. ( 28890359 )
2017
3
Mitofusin 1 and optic atrophy 1 shift metabolism to mitochondrial respiration during aging. ( 28758339 )
2017
4
Optic Atrophy 1 Is Epistatic to the Core MICOS Component MIC60 in Mitochondrial Cristae Shape Control. ( 27974214 )
2016
5
Dominant optic atrophy: updates on the pathophysiology and clinical manifestations of the optic atrophy 1 mutation. ( 27585216 )
2016
6
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
7
Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy. ( 23401657 )
2013
8
Optic atrophy 1 mediates mitochondria remodeling and dopaminergic neurodegeneration linked to complex I deficiency. ( 22858546 )
2013
9
Overexpression of optic atrophy 1 protein increases cisplatin resistance via inactivation of caspase-dependent apoptosis in lung adenocarcinoma cells. ( 21798574 )
2012
10
Optic atrophy 1 is an A-kinase anchoring protein on lipid droplets that mediates adrenergic control of lipolysis. ( 21983901 )
2011
11
The mitochondrial inner membrane GTPase, optic atrophy 1 (Opa1), restores mitochondrial morphology and promotes neuronal survival following excitotoxicity. ( 21041314 )
2011

Variations for Optic Atrophy 1

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

71 (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 rs879255592
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_015560.2(OPA1): c.1635C> G (p.Ser545Arg) 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 GRCh38 Chromosome 3, 193643419: 193643419
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 mitochondrial outer membrane GO:0005741 9.16 MFN2 OPA1
2 mitochondrial intermembrane space GO:0005758 8.96 CYCS OPA1
3 mitochondrion GO:0005739 8.92 CYCS DNM3 MFN2 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
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
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37 KEGG
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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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