OPA1
MCID: OPT053
MIFTS: 54

Optic Atrophy 1 (OPA1)

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

Aliases & Classifications for Optic Atrophy 1

MalaCards integrated aliases for Optic Atrophy 1:

Name: Optic Atrophy 1 58 54 76 13
Optic Atrophy Type 1 25 54 26 60
Optic Atrophy, Kjer Type 58 54 26
Optic Atrophy, Juvenile 58 54 26
Kjer-Type Optic Atrophy 58 54 76
Opa1 58 54 76
Oak 58 54 76
Autosomal Dominant Optic Atrophy, Classic Form 54 60
Optic Atrophy, Autosomal Dominant 26 74
Optic Atrophy, Hereditary, Autosomal Dominant 26
Autosomal Dominant Optic Atrophy, Kjer Type 60
Autosomal Dominant Optic Atrophy Kjer Type 26
Autosomal Dominant Optic Atrophy 26
Optic Atrophy Autosomal Dominant 56
Optic Atrophy, Kjer Type; Oak 58
Kjer Type Optic Atrophy 26
Optic Atrophy Kjer Type 76
Dominant Optic Atrophy 26
Optic Atrophy Juvenile 76
Atrophy, Optic, Type 1 41
Kjer's Optic Atrophy 26
Kjer Optic Atrophy 60
Adoa 26
Doa 26

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant optic atrophy, classic form
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
phenotypic variability
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:

33
optic atrophy 1:
Onset and clinical course incomplete penetrance insidious onset
Inheritance autosomal dominant inheritance


GeneReviews:

25
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 : 54 Optic atrophy 1, also known as optic atrophy type 1 is a disease that affects the optic nerve. The optic nerve carries signals from the eye to the brain about what is seen. People with optic atrophy type 1 have an optic nerve that has lost some tissue (atrophy). This atrophy causes the optic nerve not to work as well as it should, which affects the vision. Signs and symptoms of optic atrophy type 1 include vision loss, difficulty distinguishing colors, and an abnormally pale appearance (pallor) of the optic nerve. The vision loss typically begins at age 4-6 years-old. The disease can occur in people of any ethnicity but seems to be more common in people of Danish descent. Other symptoms of optic atrophy type 1 may include sensorineural hearing loss, difficulty coordinating movements (ataxia) and muscle disease (myopathy). When people have optic atrophy type 1 and signs and symptoms other than vision loss, it is known as autosomal dominant optic atrophy plus syndrome. Optic atrophy type 1 is caused by a genetic change (pathogenic variant or mutation) in the OPA1 gene. The disease is inherited in an autosomal dominant manner. Optic atrophy type 1 may be suspected when a person has signs and symptoms of the disease on an exam done by an ophthalmologist. Genetic testing may be used to confirm the diagnosis. Treatment for optic atrophy type 1 may include vision and hearing aids when necessary.

MalaCards based summary : Optic Atrophy 1, also known as optic atrophy type 1, is related to scotoma and cranial nerve disease. An important gene associated with Optic Atrophy 1 is OPA1 (OPA1 Mitochondrial Dynamin Like GTPase), and among its related pathways/superpathways are Synaptic vesicle cycle and Glucose / Energy Metabolism. The drugs Vaccines and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and testes, and related phenotypes are ataxia and strabismus

Genetics Home Reference : 26 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 : 58 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)

UniProtKB/Swiss-Prot : 76 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

Diseases in the Primary Optic Atrophy family:

Optic Atrophy 3, Autosomal Dominant Optic Atrophy 1
Optic Atrophy 6 Optic Atrophy 2
Optic Atrophy 4 Optic Atrophy 5
Optic Atrophy 9 Optic Atrophy 8
Optic Atrophy 11 Autosomal Dominant Optic Atrophy Plus Syndrome

Diseases related to Optic Atrophy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 scotoma 31.4 DNM1L OPA1
2 cranial nerve disease 30.9 DNM1L MFN1 MFN2
3 charcot-marie-tooth disease 30.9 MFN1 MFN2 OPA1
4 spastic paraplegia 7, autosomal recessive 30.7 CYCS MFN1 MFN2 OPA1
5 3-methylglutaconic aciduria, type iii 29.6 DNM1L MFN1 MFN2 OPA1
6 peripheral nervous system disease 29.1 DNM1L MFN1 MFN2
7 optic nerve disease 28.8 DNM1L MFN1 MFN2 OPA1
8 optic atrophy 3, autosomal dominant 12.3
9 autosomal dominant optic atrophy and peripheral neuropathy 12.2
10 optic atrophy 1 and deafness 12.2
11 autosomal dominant optic atrophy plus syndrome 11.8
12 open-angle glaucoma 11.6
13 ptosis 11.5
14 leber hereditary optic neuropathy 11.5
15 sensorineural hearing loss 11.5
16 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 11.4
17 auditory neuropathy spectrum disorder 11.4
18 mitochondrial dna depletion syndrome 14 11.4
19 glaucoma, normal tension 11.3
20 bosch-boonstra-schaaf optic atrophy syndrome 11.2
21 harding ataxia 11.1
22 hypertrichosis universalis congenita, ambras type 11.1
23 tritanopia 11.1
24 usher syndrome, type iic 11.1
25 charcot-marie-tooth disease, axonal, type 2k 11.1
26 usher syndrome, type iid 11.1
27 usher syndrome type 2 11.1
28 orbital cellulitis 11.1
29 mitochondrial metabolism disease 11.1
30 mitochondrial disorders 11.1
31 autosomal dominant progressive external ophthalmoplegia 11.1
32 optic atrophy 5 11.0
33 wolfram-like syndrome, autosomal dominant 11.0
34 optic atrophy 8 11.0
35 optic atrophy 11 11.0
36 mitochondrial myopathy 11.0
37 glaucoma, primary open angle 10.3
38 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
39 alzheimer disease 10.1
40 pulmonary emphysema 10.1
41 paraplegia 10.1
42 rheumatoid arthritis 10.0
43 acute insulin response 10.0
44 arthritis 10.0
45 hemorrhagic disease 10.0
46 sickle cell disease 10.0
47 streptococcal group a invasive disease 10.0
48 hepatocellular carcinoma 9.9
49 diabetes mellitus, noninsulin-dependent 9.9
50 huntington disease 9.9

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



Diseases related to Optic Atrophy 1

Symptoms & Phenotypes for Optic Atrophy 1

Human phenotypes related to Optic Atrophy 1:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 ataxia 33 very rare (1%) HP:0001251
2 strabismus 33 very rare (1%) HP:0000486
3 progressive external ophthalmoplegia 33 very rare (1%) HP:0000590
4 horizontal nystagmus 33 very rare (1%) HP:0000666
5 proximal muscle weakness 33 very rare (1%) HP:0003701
6 optic atrophy 33 HP:0000648
7 pallor 33 HP:0000980
8 reduced visual acuity 33 HP:0007663
9 central scotoma 33 HP:0000603
10 centrocecal scotoma 33 HP:0000576
11 tritanomaly 33 HP:0000552
12 red-green dyschromatopsia 33 HP:0000642
13 abnormal amplitude of pattern reversal visual evoked potentials 33 HP:0000650

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
optic atrophy
central scotoma
centrocecal scotoma
red-green dyschromatopsia
decreased visual acuity
more

Clinical features from OMIM:

165500

MGI Mouse Phenotypes related to Optic Atrophy 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 CYCS DNM1L DNM3 MFN1 MFN2 OPA1
2 embryo MP:0005380 9.55 CYCS DNM1L MFN1 MFN2 OPA1
3 mortality/aging MP:0010768 9.43 CYCS DNM1L DNM3 MFN1 MFN2 OPA1
4 nervous system MP:0003631 9.1 CYCS DNM1L DNM3 MFN1 MFN2 OPA1

Drugs & Therapeutics for Optic Atrophy 1

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 3,Phase 2
2 Immunologic Factors Phase 3,Phase 2
3 Heptavalent Pneumococcal Conjugate Vaccine Phase 3,Phase 2
4
Histidine Approved, Nutraceutical Phase 2 71-00-1 6274

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 A Study to Compare the Immunogenicity of GSK Biologicals' 10Pn-PD-DiT 4-dose Presentation to the Licensed 1-dose Synflorix™ (10Pn-PD-DiT) Vaccine When Co-administered With DTPw-combination Vaccine in Healthy Infants Completed NCT02447432 Phase 3
2 Primary Vaccination Course in Children Receiving the Pneumococcal Vaccine GSK 1024850A, Zilbrix™ Hib and Polio Sabin™ Completed NCT00678301 Phase 3
3 Evaluation of a Vaccine for Reducing Ear and Lung Infections in Children Completed NCT01545375 Phase 2, Phase 3
4 Immunogenicity and Safety of Two Formulations of GSK Biologicals' Pneumococcal Vaccine (2830929A and 2830930A) When Administered in Healthy Infants Completed NCT01616459 Phase 2
5 Safety & Immunogenicity of Pneumococcal Vaccine 2189242A Co-administered With DTPa-HBV-IPV/Hib in Healthy Infants Completed NCT01204658 Phase 2
6 Expression of Optic Atrophy Type 1 (OPA1) Protein in Lung Adenocarcinoma Unknown status NCT01249053
7 Advanced Characterization of Autosomal Dominant Optic Atrophy Unknown status NCT01522638
8 Transcorneal Electrical Stimulation Therapy for Retinal Disease Completed NCT00804102 Not Applicable
9 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541 Not Applicable
10 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
11 ORBERA™ Post-Approval Study Active, not recruiting NCT02828657
12 Study of Neurodegenerative Diseases Induced Stem Cells in Patients and Healthy Family Controls. Not yet recruiting NCT03682458

Search NIH Clinical Center for Optic Atrophy 1

Genetic Tests for Optic Atrophy 1

Anatomical Context for Optic Atrophy 1

MalaCards organs/tissues related to Optic Atrophy 1:

42
Eye, Brain, Testes, Retina, Lung, Heart, T Cells

Publications for Optic Atrophy 1

Articles related to Optic Atrophy 1:

(show all 20)
# Title Authors Year
1
A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders. ( 29340645 )
2018
2
Enhancing fatty acid utilization ameliorates mitochondrial fragmentation and cardiac dysfunction via rebalancing optic atrophy 1 processing in the failing heart. ( 29490017 )
2018
3
The relationship between optic atrophy 1 polymorphism and normal tension glaucoma in Taiwan. ( 30038886 )
2018
4
The cristae modulator Optic atrophy 1 requires mitochondrial ATP synthase oligomers to safeguard mitochondrial function. ( 30143614 )
2018
5
Overexpression of Optic Atrophy Type 1 Protects Retinal Ganglion Cells and Upregulates Parkin Expression in Experimental Glaucoma. ( 30323741 )
2018
6
Mitofusin 1 and optic atrophy 1 shift metabolism to mitochondrial respiration during aging. ( 28758339 )
2017
7
T-Cell Intracellular Antigens and Hu Antigen R Antagonistically Modulate Mitochondrial Activity and Dynamics by Regulating Optic Atrophy 1 Gene Expression. ( 28630277 )
2017
8
Optic atrophy 1 mediates coenzyme Q-responsive regulation of respiratory complex IV activity in brain mitochondria. ( 28890359 )
2017
9
Dominant optic atrophy: updates on the pathophysiology and clinical manifestations of the optic atrophy 1 mutation. ( 27585216 )
2016
10
Optic Atrophy 1 Is Epistatic to the Core MICOS Component MIC60 in Mitochondrial Cristae Shape Control. ( 27974214 )
2016
11
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
12
Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy. ( 23401657 )
2013
13
Optic atrophy 1 mediates mitochondria remodeling and dopaminergic neurodegeneration linked to complex I deficiency. ( 22858546 )
2013
14
Overexpression of optic atrophy 1 protein increases cisplatin resistance via inactivation of caspase-dependent apoptosis in lung adenocarcinoma cells. ( 21798574 )
2012
15
Optic atrophy 1-dependent mitochondrial remodeling controls steroidogenesis in trophoblasts. ( 22658590 )
2012
16
The mitochondrial inner membrane GTPase, optic atrophy 1 (Opa1), restores mitochondrial morphology and promotes neuronal survival following excitotoxicity. ( 21041314 )
2011
17
Optic atrophy 1 is an A-kinase anchoring protein on lipid droplets that mediates adrenergic control of lipolysis. ( 21983901 )
2011
18
Increased optic atrophy type 1 expression protects retinal ganglion cells in a mouse model of glaucoma. ( 20664796 )
2010
19
A novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1. ( 12063046 )
2002
20
Optic Atrophy Type 1 ( 20301426 )
1993

Variations for Optic Atrophy 1

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

76 (show all 48)
# 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.Tyr80Cys VAR_060826 rs151103940
10 OPA1 p.Thr95Met VAR_060827 rs201214736
11 OPA1 p.Tyr102Cys VAR_060828 rs530896300
12 OPA1 p.Glu270Lys VAR_060829
13 OPA1 p.Leu272Pro VAR_060830
14 OPA1 p.Asp273Ala VAR_060831
15 OPA1 p.Arg290Trp VAR_060832 rs780333963
16 OPA1 p.Gln310Arg VAR_060834 rs770966290
17 OPA1 p.Ala357Thr VAR_060836 rs190223702
18 OPA1 p.Ile382Met VAR_060837 rs143319805
19 OPA1 p.Leu384Phe VAR_060838
20 OPA1 p.Leu396Pro VAR_060839 rs727504060
21 OPA1 p.Asn430Asp VAR_060841
22 OPA1 p.Asp438Val VAR_060842
23 OPA1 p.Thr449Arg VAR_060843
24 OPA1 p.Lys468Glu VAR_060845
25 OPA1 p.Asp470Gly VAR_060846
26 OPA1 p.Glu487Lys VAR_060847
27 OPA1 p.Lys505Asn VAR_060848
28 OPA1 p.Cys551Tyr VAR_060851 rs879255592
29 OPA1 p.Leu574Pro VAR_060852
30 OPA1 p.Arg590Gln VAR_060854 rs147077380
31 OPA1 p.Arg590Trp VAR_060855 rs778998909
32 OPA1 p.Leu593Pro VAR_060856
33 OPA1 p.Ser646Leu VAR_060857
34 OPA1 p.Asn728Lys VAR_060859 rs129285246
35 OPA1 p.Gly768Asp VAR_060860
36 OPA1 p.Arg781Trp VAR_060861 rs190235251
37 OPA1 p.Gln785Arg VAR_060862 rs106479730
38 OPA1 p.Ser823Tyr VAR_060863
39 OPA1 p.Tyr841Cys VAR_060864
40 OPA1 p.Arg882Leu VAR_060865
41 OPA1 p.Leu887Pro VAR_060866
42 OPA1 p.Arg932Cys VAR_060868 rs145710079
43 OPA1 p.Leu949Pro VAR_060869
44 OPA1 p.Pro400Ala VAR_067355
45 OPA1 p.Thr330Ser VAR_072125
46 OPA1 p.Val377Ile VAR_072126 rs780922750
47 OPA1 p.Gly439Val VAR_072127 rs387906900
48 OPA1 p.Gly459Glu VAR_072129

ClinVar genetic disease variations for Optic Atrophy 1:

6 (show top 50) (show all 66)
# Gene Variation Type Significance SNP ID Assembly Location
1 OPA1 NM_015560.2(OPA1): c.533T> A (p.Leu178Ter) single nucleotide variant Pathogenic rs727504058 GRCh37 Chromosome 3, 193335051: 193335051
2 OPA1 NM_015560.2(OPA1): c.533T> A (p.Leu178Ter) single nucleotide variant Pathogenic rs727504058 GRCh38 Chromosome 3, 193617262: 193617262
3 OPA1 NM_015560.2(OPA1): c.870+1G> A single nucleotide variant Pathogenic rs727504059 GRCh37 Chromosome 3, 193355071: 193355071
4 OPA1 NM_015560.2(OPA1): c.870+1G> A single nucleotide variant Pathogenic rs727504059 GRCh38 Chromosome 3, 193637282: 193637282
5 OPA1 NM_015560.2(OPA1): c.2883A> C (p.Ter961Tyr) single nucleotide variant Likely pathogenic rs143929819 GRCh37 Chromosome 3, 193409916: 193409916
6 OPA1 NM_015560.2(OPA1): c.2883A> C (p.Ter961Tyr) single nucleotide variant Likely pathogenic rs143929819 GRCh38 Chromosome 3, 193692127: 193692127
7 OPA1 NM_015560.2(OPA1): c.22G> T (p.Ala8Ser) single nucleotide variant Uncertain significance rs794726939 GRCh37 Chromosome 3, 193311188: 193311188
8 OPA1 NM_015560.2(OPA1): c.22G> T (p.Ala8Ser) single nucleotide variant Uncertain significance rs794726939 GRCh38 Chromosome 3, 193593399: 193593399
9 OPA1 NM_015560.2(OPA1): c.2131C> T (p.Arg711Ter) single nucleotide variant Pathogenic/Likely pathogenic rs863224906 GRCh37 Chromosome 3, 193374986: 193374986
10 OPA1 NM_015560.2(OPA1): c.2131C> T (p.Arg711Ter) single nucleotide variant Pathogenic/Likely pathogenic rs863224906 GRCh38 Chromosome 3, 193657197: 193657197
11 OPA1 NM_015560.2(OPA1): c.728T> A (p.Leu243Ter) single nucleotide variant Pathogenic rs863225274 GRCh37 Chromosome 3, 193353256: 193353256
12 OPA1 NM_015560.2(OPA1): c.728T> A (p.Leu243Ter) single nucleotide variant Pathogenic rs863225274 GRCh38 Chromosome 3, 193635467: 193635467
13 OPA1 NM_015560.2(OPA1): c.1067_1068dup (p.Ala357Leufs) duplication Pathogenic rs863225275 GRCh37 Chromosome 3, 193360765: 193360766
14 OPA1 NM_015560.2(OPA1): c.1067_1068dup (p.Ala357Leufs) duplication Pathogenic rs863225275 GRCh38 Chromosome 3, 193642976: 193642977
15 OPA1 NM_015560.2(OPA1): c.1202G> A (p.Gly401Asp) single nucleotide variant Pathogenic rs863225276 GRCh37 Chromosome 3, 193361223: 193361223
16 OPA1 NM_015560.2(OPA1): c.1202G> A (p.Gly401Asp) single nucleotide variant Pathogenic rs863225276 GRCh38 Chromosome 3, 193643434: 193643434
17 OPA1 NM_015560.2(OPA1): c.1310A> G (p.Gln437Arg) single nucleotide variant Pathogenic rs863225277 GRCh37 Chromosome 3, 193361414: 193361414
18 OPA1 NM_015560.2(OPA1): c.1310A> G (p.Gln437Arg) single nucleotide variant Pathogenic rs863225277 GRCh38 Chromosome 3, 193643625: 193643625
19 OPA1 NM_015560.2(OPA1): c.899G> A (p.Gly300Glu) single nucleotide variant Pathogenic rs28939082 GRCh37 Chromosome 3, 193355769: 193355769
20 OPA1 NM_015560.2(OPA1): c.899G> A (p.Gly300Glu) single nucleotide variant Pathogenic rs28939082 GRCh38 Chromosome 3, 193637980: 193637980
21 OPA1 NM_015560.2(OPA1): c.985-1G> A single nucleotide variant Pathogenic rs879255510 GRCh38 Chromosome 3, 193642764: 193642764
22 OPA1 NM_015560.2(OPA1): c.985-1G> A single nucleotide variant Pathogenic rs879255510 GRCh37 Chromosome 3, 193360553: 193360553
23 OPA1 NM_015560.2(OPA1): c.2708_2711delTTAG (p.Val903Glyfs) deletion Pathogenic rs80356530 GRCh37 Chromosome 3, 193384959: 193384962
24 OPA1 NM_015560.2(OPA1): c.2708_2711delTTAG (p.Val903Glyfs) deletion Pathogenic rs80356530 GRCh38 Chromosome 3, 193667170: 193667173
25 OPA1 NM_015560.2(OPA1): c.2825_2828delTTAG (p.Val942Glufs) deletion Pathogenic rs879255560 GRCh37 Chromosome 3, 193409858: 193409861
26 OPA1 NM_015560.2(OPA1): c.2825_2828delTTAG (p.Val942Glufs) deletion Pathogenic rs879255560 GRCh38 Chromosome 3, 193692069: 193692072
27 OPA1 NM_015560.2(OPA1): c.869G> A (p.Arg290Gln) single nucleotide variant Pathogenic rs121908375 GRCh37 Chromosome 3, 193355069: 193355069
28 OPA1 NM_015560.2(OPA1): c.869G> A (p.Arg290Gln) single nucleotide variant Pathogenic rs121908375 GRCh38 Chromosome 3, 193637280: 193637280
29 OPA1 NM_015560.2(OPA1): c.1096C> T (p.Arg366Ter) single nucleotide variant Pathogenic rs104893753 GRCh37 Chromosome 3, 193360794: 193360794
30 OPA1 NM_015560.2(OPA1): c.1096C> T (p.Arg366Ter) single nucleotide variant Pathogenic rs104893753 GRCh38 Chromosome 3, 193643005: 193643005
31 OPA1 NM_015560.2(OPA1): c.1296_1298delCAT (p.Ile433del) deletion Pathogenic rs879255511 GRCh37 Chromosome 3, 193361400: 193361402
32 OPA1 NM_015560.2(OPA1): c.1296_1298delCAT (p.Ile433del) deletion Pathogenic rs879255511 GRCh38 Chromosome 3, 193643611: 193643613
33 OPA1 NM_015560.2(OPA1): c.1354delG (p.Val452Serfs) deletion Pathogenic rs879255512 GRCh38 Chromosome 3, 193644016: 193644016
34 OPA1 NM_015560.2(OPA1): c.1354delG (p.Val452Serfs) deletion Pathogenic rs879255512 GRCh37 Chromosome 3, 193361805: 193361805
35 OPA1 NM_015560.2(OPA1): c.2826delT (p.Arg943Glufs) deletion Pathogenic rs80356531 GRCh37 Chromosome 3, 193409859: 193409859
36 OPA1 NM_015560.2(OPA1): c.2826delT (p.Arg943Glufs) deletion Pathogenic rs80356531 GRCh38 Chromosome 3, 193692070: 193692070
37 OPA1 NM_015560.2(OPA1): c.1334G> A (p.Arg445His) single nucleotide variant Pathogenic rs80356529 GRCh37 Chromosome 3, 193361785: 193361785
38 OPA1 NM_015560.2(OPA1): c.1334G> A (p.Arg445His) single nucleotide variant Pathogenic rs80356529 GRCh38 Chromosome 3, 193643996: 193643996
39 OPA1 NM_015560.2(OPA1): c.2848_2849delGA (p.Asp950Cysfs) deletion Pathogenic rs879255513 GRCh38 Chromosome 3, 193692092: 193692093
40 OPA1 NM_015560.2(OPA1): c.2848_2849delGA (p.Asp950Cysfs) deletion Pathogenic rs879255513 GRCh37 Chromosome 3, 193409881: 193409882
41 OPA1 NM_015560.2(OPA1): c.1065+1G> T single nucleotide variant Pathogenic rs80356528 GRCh37 Chromosome 3, 193360635: 193360635
42 OPA1 NM_015560.2(OPA1): c.1065+1G> T single nucleotide variant Pathogenic rs80356528 GRCh38 Chromosome 3, 193642846: 193642846
43 OPA1 NM_015560.2(OPA1): c.1146A> G (p.Ile382Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143319805 GRCh37 Chromosome 3, 193361167: 193361167
44 OPA1 NM_015560.2(OPA1): c.1146A> G (p.Ile382Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143319805 GRCh38 Chromosome 3, 193643378: 193643378
45 OPA1 NM_130837.2(OPA1): c.740G> A (p.Arg247His) single nucleotide variant Uncertain significance rs138350727 GRCh37 Chromosome 3, 193343942: 193343942
46 OPA1 NM_130837.2(OPA1): c.740G> A (p.Arg247His) single nucleotide variant Uncertain significance rs138350727 GRCh38 Chromosome 3, 193626153: 193626153
47 OPA1 NM_015560.2(OPA1): c.1352delT (p.Leu451Trpfs) deletion Pathogenic rs398124297 GRCh37 Chromosome 3, 193361803: 193361803
48 OPA1 NM_015560.2(OPA1): c.1352delT (p.Leu451Trpfs) deletion Pathogenic rs398124297 GRCh38 Chromosome 3, 193644014: 193644014
49 OPA1 NM_015560.2(OPA1): c.1635C> A (p.Ser545Arg) single nucleotide variant Pathogenic rs398124298 GRCh37 Chromosome 3, 193364899: 193364899
50 OPA1 NM_015560.2(OPA1): c.1635C> A (p.Ser545Arg) single nucleotide variant Pathogenic rs398124298 GRCh38 Chromosome 3, 193647110: 193647110

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.37 DNM1L DNM3
2 11.29 MFN1 MFN2 OPA1
3 10.97 MFN1 MFN2
4
Show member pathways
10.62 MFN1 MFN2

GO Terms for Optic Atrophy 1

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.55 CYCS DNM1L MFN1 MFN2 OPA1
2 mitochondrial intermembrane space GO:0005758 9.26 CYCS OPA1
3 intrinsic component of mitochondrial outer membrane GO:0031306 8.96 MFN1 MFN2
4 mitochondrial outer membrane GO:0005741 8.92 DNM1L MFN1 MFN2 OPA1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 macroautophagy GO:0016236 9.51 MFN1 MFN2
2 protein complex oligomerization GO:0051259 9.49 DNM1L OPA1
3 membrane fusion GO:0061025 9.48 DNM1L OPA1
4 mitochondrion morphogenesis GO:0070584 9.46 DNM1L OPA1
5 positive regulation of dendritic spine morphogenesis GO:0061003 9.43 DNM1L OPA1
6 mitochondrial fission GO:0000266 9.4 DNM1L OPA1
7 GTP metabolic process GO:0046039 9.37 MFN1 OPA1
8 mitochondrion organization GO:0007005 9.33 CYCS DNM1L OPA1
9 intracellular distribution of mitochondria GO:0048312 9.32 DNM1L OPA1
10 mitochondrion localization GO:0051646 9.26 MFN1 MFN2
11 dynamin family protein polymerization involved in mitochondrial fission GO:0003374 8.96 DNM1L OPA1
12 mitochondrial fusion GO:0008053 8.8 MFN1 MFN2 OPA1

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.55 DNM1L DNM3 MFN1 MFN2 OPA1
2 microtubule binding GO:0008017 9.43 DNM1L DNM3 OPA1
3 GTP binding GO:0005525 9.35 DNM1L DNM3 MFN1 MFN2 OPA1
4 GTPase activity GO:0003924 9.02 DNM1L DNM3 MFN1 MFN2 OPA1

Sources for Optic Atrophy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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