MCID: OPT053
MIFTS: 52

Optic Atrophy 1

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

Aliases & Classifications for Optic Atrophy 1

MalaCards integrated aliases for Optic Atrophy 1:

Name: Optic Atrophy 1 57 53 75 13
Optic Atrophy Type 1 24 53 25 59
Optic Atrophy, Kjer Type 57 53 25
Optic Atrophy, Juvenile 57 53 25
Kjer-Type Optic Atrophy 57 53 75
Opa1 57 53 75
Oak 57 53 75
Autosomal Dominant Optic Atrophy, Classic Form 53 59
Optic Atrophy, Autosomal Dominant 25 73
Optic Atrophy, Hereditary, Autosomal Dominant 25
Autosomal Dominant Optic Atrophy, Kjer Type 59
Autosomal Dominant Optic Atrophy Kjer Type 25
Autosomal Dominant Optic Atrophy 25
Optic Atrophy Autosomal Dominant 55
Optic Atrophy, Kjer Type; Oak 57
Kjer Type Optic Atrophy 25
Optic Atrophy Kjer Type 75
Dominant Optic Atrophy 25
Optic Atrophy Juvenile 75
Atrophy, Optic, Type 1 40
Kjer's Optic Atrophy 25
Kjer Optic Atrophy 59
Adoa 25
Doa 25

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant optic atrophy, classic form
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
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:

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


GeneReviews:

24
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 : 53 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 3-methylglutaconic aciduria, type iii and optic 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 Heptavalent Pneumococcal Conjugate Vaccine and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and testes, and related phenotypes are strabismus and visual impairment

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 : 57 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 : 75 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 via clinical synopsis from OMIM:

57
Head And Neck Eyes:
optic atrophy
central scotoma
centrocecal scotoma
red-green dyschromatopsia
decreased visual acuity
more

Clinical features from OMIM:

165500

Human phenotypes related to Optic Atrophy 1:

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

MGI Mouse Phenotypes related to Optic Atrophy 1:

46
# 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 MFN2 OPA1 CYCS DNM1L MFN1
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 Heptavalent Pneumococcal Conjugate Vaccine Phase 3,Phase 2
2 Vaccines Phase 3,Phase 2
3
Histidine Approved, Nutraceutical Phase 2 71-00-1 6274

Interventional clinical trials:

(show all 11)
# 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 Immunogenicity and Safety of Two Formulations of GSK Biologicals' Pneumococcal Vaccine (2830929A and 2830930A) When Administered in Healthy Infants Completed NCT01616459 Phase 2
4 Safety & Immunogenicity of Pneumococcal Vaccine 2189242A Co-administered With DTPa-HBV-IPV/Hib in Healthy Infants Completed NCT01204658 Phase 2
5 Evaluation of a Vaccine for Reducing Ear and Lung Infections in Children Completed NCT01545375 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 ORBERA™ Post-Approval Study Recruiting NCT02828657
10 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541 Not Applicable
11 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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:

41
Eye, Brain, Testes, Retina, Lung, T Cells, Heart

Publications for Optic Atrophy 1

Articles related to Optic Atrophy 1:

(show all 16)
# 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
Mitofusin 1 and optic atrophy 1 shift metabolism to mitochondrial respiration during aging. ( 28758339 )
2017
4
T-Cell Intracellular Antigens and Hu Antigen R Antagonistically Modulate Mitochondrial Activity and Dynamics by Regulating Optic Atrophy 1 Gene Expression. ( 28630277 )
2017
5
Optic atrophy 1 mediates coenzyme Q-responsive regulation of respiratory complex IV activity in brain mitochondria. ( 28890359 )
2017
6
Dominant optic atrophy: updates on the pathophysiology and clinical manifestations of the optic atrophy 1 mutation. ( 27585216 )
2016
7
Optic Atrophy 1 Is Epistatic to the Core MICOS Component MIC60 in Mitochondrial Cristae Shape Control. ( 27974214 )
2016
8
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
9
Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy. ( 23401657 )
2013
10
Optic atrophy 1 mediates mitochondria remodeling and dopaminergic neurodegeneration linked to complex I deficiency. ( 22858546 )
2013
11
Overexpression of optic atrophy 1 protein increases cisplatin resistance via inactivation of caspase-dependent apoptosis in lung adenocarcinoma cells. ( 21798574 )
2012
12
The mitochondrial inner membrane GTPase, optic atrophy 1 (Opa1), restores mitochondrial morphology and promotes neuronal survival following excitotoxicity. ( 21041314 )
2011
13
Optic atrophy 1 is an A-kinase anchoring protein on lipid droplets that mediates adrenergic control of lipolysis. ( 21983901 )
2011
14
Increased optic atrophy type 1 expression protects retinal ganglion cells in a mouse model of glaucoma. ( 20664796 )
2010
15
A novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1. ( 12063046 )
2002
16
Optic Atrophy Type 1 ( 20301426 )
1993

Variations for Optic Atrophy 1

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

75 (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
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
35 OPA1 p.Gly768Asp VAR_060860
36 OPA1 p.Arg781Trp VAR_060861 rs190235251
37 OPA1 p.Gln785Arg VAR_060862
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 84)
# 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.899G> A (p.Gly300Glu) single nucleotide variant Pathogenic rs28939082 GRCh38 Chromosome 3, 193637980: 193637980
3 OPA1 NM_015560.2(OPA1): c.985-1G> A single nucleotide variant Pathogenic rs879255510 GRCh38 Chromosome 3, 193642764: 193642764
4 OPA1 NM_015560.2(OPA1): c.985-1G> A single nucleotide variant Pathogenic rs879255510 GRCh37 Chromosome 3, 193360553: 193360553
5 OPA1 NM_015560.2(OPA1): c.2708_2711delTTAG (p.Val903Glyfs) deletion Pathogenic rs80356530 GRCh37 Chromosome 3, 193384959: 193384962
6 OPA1 NM_015560.2(OPA1): c.2708_2711delTTAG (p.Val903Glyfs) deletion Pathogenic rs80356530 GRCh38 Chromosome 3, 193667170: 193667173
7 OPA1 NM_015560.2(OPA1): c.2825_2828delTTAG (p.Val942Glufs) deletion Pathogenic rs879255560 GRCh37 Chromosome 3, 193409858: 193409861
8 OPA1 NM_015560.2(OPA1): c.2825_2828delTTAG (p.Val942Glufs) deletion Pathogenic rs879255560 GRCh38 Chromosome 3, 193692069: 193692072
9 OPA1 NM_015560.2(OPA1): c.869G> A (p.Arg290Gln) single nucleotide variant Pathogenic rs121908375 GRCh37 Chromosome 3, 193355069: 193355069
10 OPA1 NM_015560.2(OPA1): c.869G> A (p.Arg290Gln) single nucleotide variant Pathogenic rs121908375 GRCh38 Chromosome 3, 193637280: 193637280
11 OPA1 NM_015560.2(OPA1): c.1096C> T (p.Arg366Ter) single nucleotide variant Pathogenic rs104893753 GRCh37 Chromosome 3, 193360794: 193360794
12 OPA1 NM_015560.2(OPA1): c.1096C> T (p.Arg366Ter) single nucleotide variant Pathogenic rs104893753 GRCh38 Chromosome 3, 193643005: 193643005
13 OPA1 NM_015560.2(OPA1): c.1296_1298delCAT (p.Ile433del) deletion Pathogenic rs879255511 GRCh37 Chromosome 3, 193361400: 193361402
14 OPA1 NM_015560.2(OPA1): c.1296_1298delCAT (p.Ile433del) deletion Pathogenic rs879255511 GRCh38 Chromosome 3, 193643611: 193643613
15 OPA1 NM_015560.2(OPA1): c.1354delG (p.Val452Serfs) deletion Pathogenic rs879255512 GRCh38 Chromosome 3, 193644016: 193644016
16 OPA1 NM_015560.2(OPA1): c.1354delG (p.Val452Serfs) deletion Pathogenic rs879255512 GRCh37 Chromosome 3, 193361805: 193361805
17 OPA1 NM_015560.2(OPA1): c.2826delT (p.Arg943Glufs) deletion Pathogenic rs80356531 GRCh37 Chromosome 3, 193409859: 193409859
18 OPA1 NM_015560.2(OPA1): c.2826delT (p.Arg943Glufs) deletion Pathogenic rs80356531 GRCh38 Chromosome 3, 193692070: 193692070
19 OPA1 NM_015560.2(OPA1): c.1334G> A (p.Arg445His) single nucleotide variant Pathogenic rs80356529 GRCh37 Chromosome 3, 193361785: 193361785
20 OPA1 NM_015560.2(OPA1): c.1334G> A (p.Arg445His) single nucleotide variant Pathogenic rs80356529 GRCh38 Chromosome 3, 193643996: 193643996
21 OPA1 NM_015560.2(OPA1): c.2848_2849delGA (p.Asp950Cysfs) deletion Pathogenic rs879255513 GRCh38 Chromosome 3, 193692092: 193692093
22 OPA1 NM_015560.2(OPA1): c.2848_2849delGA (p.Asp950Cysfs) deletion Pathogenic rs879255513 GRCh37 Chromosome 3, 193409881: 193409882
23 OPA1 NM_015560.2(OPA1): c.1065+1G> T single nucleotide variant Pathogenic rs80356528 GRCh37 Chromosome 3, 193360635: 193360635
24 OPA1 NM_015560.2(OPA1): c.1065+1G> T single nucleotide variant Pathogenic rs80356528 GRCh38 Chromosome 3, 193642846: 193642846
25 OPA1 NM_130837.2(OPA1): c.740G> A (p.Arg247His) single nucleotide variant Pathogenic rs138350727 GRCh37 Chromosome 3, 193343942: 193343942
26 OPA1 NM_130837.2(OPA1): c.740G> A (p.Arg247His) single nucleotide variant Pathogenic rs138350727 GRCh38 Chromosome 3, 193626153: 193626153
27 OPA1 NM_015560.2(OPA1): c.1352delT (p.Leu451Trpfs) deletion Pathogenic rs398124297 GRCh37 Chromosome 3, 193361803: 193361803
28 OPA1 NM_015560.2(OPA1): c.1352delT (p.Leu451Trpfs) deletion Pathogenic rs398124297 GRCh38 Chromosome 3, 193644014: 193644014
29 OPA1 NM_015560.2(OPA1): c.1635C> A (p.Ser545Arg) single nucleotide variant Pathogenic rs398124298 GRCh37 Chromosome 3, 193364899: 193364899
30 OPA1 NM_015560.2(OPA1): c.1635C> A (p.Ser545Arg) single nucleotide variant Pathogenic rs398124298 GRCh38 Chromosome 3, 193647110: 193647110
31 OPA1 NM_015560.2(OPA1): c.1669C> T (p.Arg557Ter) single nucleotide variant Pathogenic rs398124299 GRCh37 Chromosome 3, 193364933: 193364933
32 OPA1 NM_015560.2(OPA1): c.1669C> T (p.Arg557Ter) single nucleotide variant Pathogenic rs398124299 GRCh38 Chromosome 3, 193647144: 193647144
33 OPA1 NM_015560.2(OPA1): c.2257C> T (p.Gln753Ter) single nucleotide variant Pathogenic rs398124301 GRCh37 Chromosome 3, 193376766: 193376766
34 OPA1 NM_015560.2(OPA1): c.2257C> T (p.Gln753Ter) single nucleotide variant Pathogenic rs398124301 GRCh38 Chromosome 3, 193658977: 193658977
35 OPA1 NM_015560.2(OPA1): c.983A> G (p.Lys328Arg) single nucleotide variant Pathogenic rs398124303 GRCh37 Chromosome 3, 193355853: 193355853
36 OPA1 NM_015560.2(OPA1): c.983A> G (p.Lys328Arg) single nucleotide variant Pathogenic rs398124303 GRCh38 Chromosome 3, 193638064: 193638064
37 OPA1 NM_015560.2(OPA1): c.1187T> G (p.Leu396Arg) single nucleotide variant Pathogenic rs727504060 GRCh37 Chromosome 3, 193361208: 193361208
38 OPA1 NM_015560.2(OPA1): c.1187T> G (p.Leu396Arg) single nucleotide variant Pathogenic rs727504060 GRCh38 Chromosome 3, 193643419: 193643419
39 OPA1 NM_015560.2(OPA1): c.533T> A (p.Leu178Ter) single nucleotide variant Pathogenic rs727504058 GRCh37 Chromosome 3, 193335051: 193335051
40 OPA1 NM_015560.2(OPA1): c.533T> A (p.Leu178Ter) single nucleotide variant Pathogenic rs727504058 GRCh38 Chromosome 3, 193617262: 193617262
41 OPA1 NM_015560.2(OPA1): c.870+1G> A single nucleotide variant Pathogenic rs727504059 GRCh37 Chromosome 3, 193355071: 193355071
42 OPA1 NM_015560.2(OPA1): c.870+1G> A single nucleotide variant Pathogenic rs727504059 GRCh38 Chromosome 3, 193637282: 193637282
43 OPA1 NM_015560.2(OPA1): c.2883A> C (p.Ter961Tyr) single nucleotide variant Likely pathogenic rs143929819 GRCh37 Chromosome 3, 193409916: 193409916
44 OPA1 NM_015560.2(OPA1): c.2883A> C (p.Ter961Tyr) single nucleotide variant Likely pathogenic rs143929819 GRCh38 Chromosome 3, 193692127: 193692127
45 OPA1 NM_015560.2(OPA1): c.22G> T (p.Ala8Ser) single nucleotide variant Uncertain significance rs794726939 GRCh37 Chromosome 3, 193311188: 193311188
46 OPA1 NM_015560.2(OPA1): c.22G> T (p.Ala8Ser) single nucleotide variant Uncertain significance rs794726939 GRCh38 Chromosome 3, 193593399: 193593399
47 OPA1 NM_015560.2(OPA1): c.1199C> T (p.Pro400Leu) single nucleotide variant Likely pathogenic rs794727069 GRCh37 Chromosome 3, 193361220: 193361220
48 OPA1 NM_015560.2(OPA1): c.1199C> T (p.Pro400Leu) single nucleotide variant Likely pathogenic rs794727069 GRCh38 Chromosome 3, 193643431: 193643431
49 OPA1 NM_015560.2(OPA1): c.292_301delTTAAAACTTC (p.Leu98Alafs) deletion Pathogenic rs794727289 GRCh37 Chromosome 3, 193332771: 193332780
50 OPA1 NM_015560.2(OPA1): c.292_301delTTAAAACTTC (p.Leu98Alafs) deletion Pathogenic rs794727289 GRCh38 Chromosome 3, 193614982: 193614991

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
11.32 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 9.63 CYCS DNM1L DNM3 MFN1 MFN2 OPA1
2 mitochondrial membrane GO:0031966 9.43 DNM1L DNM3 OPA1
3 mitochondrial intermembrane space GO:0005758 9.32 CYCS OPA1
4 intrinsic component of mitochondrial outer membrane GO:0031306 8.96 MFN1 MFN2
5 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 13)
# Name GO ID Score Top Affiliating Genes
1 macroautophagy GO:0016236 9.52 MFN1 MFN2
2 protein complex oligomerization GO:0051259 9.51 DNM1L OPA1
3 mitochondrion organization GO:0007005 9.5 CYCS DNM1L OPA1
4 membrane fusion GO:0061025 9.49 DNM1L DNM3
5 mitochondrion morphogenesis GO:0070584 9.48 DNM1L OPA1
6 positive regulation of dendritic spine morphogenesis GO:0061003 9.46 DNM1L OPA1
7 GTP metabolic process GO:0046039 9.43 MFN1 OPA1
8 mitochondrial fission GO:0000266 9.43 DNM1L DNM3 OPA1
9 intracellular distribution of mitochondria GO:0048312 9.4 DNM1L OPA1
10 mitochondrion localization GO:0051646 9.37 MFN1 MFN2
11 mitochondrial fusion GO:0008053 9.33 MFN1 MFN2 OPA1
12 dynamin family protein polymerization involved in mitochondrial fission GO:0003374 9.13 DNM1L DNM3 OPA1
13 organelle fission GO:0048285 8.8 DNM1L DNM3 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

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62 PubMed
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69 SNOMED-CT via HPO
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