DOA+
MCID: OPT066
MIFTS: 55

Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy (DOA+)

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

Aliases & Classifications for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

MalaCards integrated aliases for Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy:

Name: Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 57 12 20 29 13 6 70
Dominant Optic Atrophy Plus Syndrome 57 12 20 72 15
Doa+ 57 12 58 72
Optic Atrophy-Deafness-Polyneuropathy-Myopathy Syndrome 20 58
Autosomal Dominant Optic Atrophy Plus Syndrome 20 58
Autosomal Dominant Optic Atrophy 20 58
Adoa 20 58
Doa 20 58
Optic Atrophy with or Without Deafness Ophthalmoplegia Myopathy Ataxia and Neuropathy 72
Dominant Optic Atrophy, Deafness, Ptosis, Ophthalmoplegia, Dystaxia, and Myopathy 20
Optic Atrophy-Hearing Loss-Polyneuropathy-Myopathy Syndrome 58
Optic Atrophy - Deafness- Polyneuropathy - Myopathy 20
Dominant Optic Atrophy Plus Syndrome; Doa+ 57
3-Methylglutaconic Aciduria Type 3 70
Optic Atrophy, Autosomal Dominant 70
Optic Atrophy Autosomal Dominant 54
Treft-Sanborn-Carey Syndrome 20
Treft Sanborn Carey Syndrome 70
Optic Atrophy Plus Syndrome 57
Optic Atrophy, Dominant 6
Dominant Optic Atrophy 20

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant optic atrophy plus syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (United Kingdom); Age of onset: Childhood; Age of death: normal life expectancy;
autosomal dominant optic atrophy
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
progressive disorder
variable age of onset (childhood to adult)


HPO:

31
optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111340
OMIM® 57 125250
MESH via Orphanet 45 C535351 D029241
ICD10 via Orphanet 33 H47.2
UMLS via Orphanet 71 C0338508 C1832466
UMLS 70 C0338508 C0574084 C2931235 more

Summaries for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

GARD : 20 Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a rare syndrome that causes vision loss, hearing loss, and symptoms affecting the muscles. The syndrome is associated with degeneration of the optic nerve ( optic atrophy ). The optic nerve sends signals about what the eyes are seeing to the brain. When there is optic nerve damage, it causes vision loss. Other symptoms of ADOA plus include sensorineural hearing loss and symptoms affecting the muscles such as muscle pain and weakness. ADOA plus is caused by changes ( mutations ) in the OPA1 gene. The syndrome is inherited in an autosomal dominant manner. A diagnosis of ADOA plus is suspected when an eye exam finds degeneration of the optic nerve (optic atrophy). The diagnosis can be confirmed with a muscle biopsy and genetic testing of the OPA1 gene. Treatment options include visual and hearing aids. Certain medications have been found to help improve vision loss in some people.

MalaCards based summary : Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy, also known as dominant optic atrophy plus syndrome, is related to optic atrophy 1 and scotoma, and has symptoms including ataxia, ophthalmoplegia and abnormality of extrapyramidal motor function. An important gene associated with Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy is OPA1 (OPA1 Mitochondrial Dynamin Like GTPase), and among its related pathways/superpathways is Spinocerebellar ataxia. The drugs Desflurane and Propofol have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and heart, and related phenotypes are sensorineural hearing impairment and optic atrophy

Disease Ontology : 12 A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has material basis in heterozygous mutation in OPA1 on chromosome 3q29.

OMIM® : 57 Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010). (125250) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Dominant optic atrophy plus syndrome: A neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes.

Related Diseases for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

Diseases related to Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 optic atrophy 1 31.1 OPA1-AS1 OPA1 MFN2 DNM1L CYCS
2 scotoma 30.6 OPA1 DNM1L
3 behr syndrome 30.4 OPA1 MFN2
4 spastic paraplegia 7, autosomal recessive 30.0 OPA1 AFG3L2
5 glaucoma, normal tension 29.9 OPA1-AS1 OPA1
6 optic atrophy 5 29.6 OPA1 MFN2 DNM1L AFG3L2
7 leber hereditary optic neuropathy, modifier of 29.6 OPA1 MFN2 CYCS
8 chronic progressive external ophthalmoplegia 29.2 MFN2 AFG3L2
9 peripheral nervous system disease 29.2 OPA1 MFN2 DNM1L CYCS
10 3-methylglutaconic aciduria, type iii 28.7 TIMM13 OPA1 MFN2 DNM1L CYCS AFG3L2
11 optic nerve disease 28.5 OPA1 MFN2 DNM1L CYCS AFG3L2
12 wolfram-like syndrome, autosomal dominant 11.6
13 bosch-boonstra-schaaf optic atrophy syndrome 11.3
14 autosomal dominant optic atrophy and peripheral neuropathy 11.2
15 rheumatoid arthritis 11.2
16 systemic lupus erythematosus 11.1
17 asthma 11.1
18 cerebellar ataxia, early-onset, with retained tendon reflexes 11.1
19 keshan disease 11.1
20 granulomatosis with polyangiitis 10.9
21 hirata disease 10.9
22 ptosis 10.5
23 sensorineural hearing loss 10.5
24 yemenite deaf-blind hypopigmentation syndrome 10.4
25 ataxia and polyneuropathy, adult-onset 10.4
26 optic atrophy 4 10.4
27 eye disease 10.4
28 color blindness 10.3
29 paraplegia 10.3
30 tritanopia 10.2
31 intraocular pressure quantitative trait locus 10.2
32 cataract 10.2
33 wolfram syndrome 10.1
34 mitochondrial dna depletion syndrome 14 10.1 OPA1-AS1 OPA1
35 neuropathy 10.1
36 wolfram syndrome 1 10.1
37 optic atrophy 2 10.1
38 microvascular complications of diabetes 5 10.1
39 optic atrophy 7 with or without auditory neuropathy 10.1
40 optic atrophy 12 10.1
41 autosomal dominant cerebellar ataxia 10.1
42 retinal disease 10.1
43 retinal degeneration 10.1
44 mitochondrial disorders 10.1
45 ring chromosome 2 10.1
46 ring chromosome 3 10.1
47 rare genetic deafness 10.1
48 optic atrophy 3, autosomal dominant 10.0
49 3-methylglutaconic aciduria 10.0
50 spasticity 10.0

Graphical network of the top 20 diseases related to Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy:



Diseases related to Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy

Symptoms & Phenotypes for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

Human phenotypes related to Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
2 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
3 impaired pain sensation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007328
4 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
5 reduced tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001315
6 color vision defect 58 31 frequent (33%) Frequent (79-30%) HP:0000551
7 abnormality of visual evoked potentials 58 31 occasional (7.5%) Occasional (29-5%) HP:0000649
8 decreased nerve conduction velocity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000762
9 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
10 spasticity 31 occasional (7.5%) HP:0001257
11 ataxia 31 occasional (7.5%) HP:0001251
12 gait disturbance 31 occasional (7.5%) HP:0001288
13 ptosis 31 HP:0000508
14 myopathy 31 HP:0003198
15 ophthalmoplegia 31 HP:0000602
16 reduced visual acuity 31 HP:0007663
17 peripheral neuropathy 31 HP:0009830
18 polyneuropathy 31 HP:0001271
19 increased variability in muscle fiber diameter 31 HP:0003557
20 progressive sensorineural hearing impairment 31 HP:0000408
21 horizontal nystagmus 31 HP:0000666
22 abnormal auditory evoked potentials 31 HP:0006958
23 central scotoma 31 HP:0000603
24 centrocecal scotoma 31 HP:0000576
25 tritanomaly 31 HP:0000552
26 red-green dyschromatopsia 31 HP:0000642
27 abnormal amplitude of pattern reversal visual evoked potentials 31 HP:0000650

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
optic atrophy
strabismus
ophthalmoplegia
horizontal nystagmus
more
Muscle Soft Tissue:
myopathy, mild
increased fiber size variation
mitochondrial dna deletions (in some patients)
ragged red fibers

Neurologic Peripheral Nervous System:
axonal sensorineural polyneuropathy

Head And Neck Ears:
hearing loss, progressive sensorineural
absent or decreased auditory brainstem responses
auditory neuropathy

Neurologic Central Nervous System:
cerebellar ataxia (in some patients)
spasticity (in some patients)
gait difficulties (in some patients)

Clinical features from OMIM®:

125250 (Updated 05-Apr-2021)

UMLS symptoms related to Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy:


ataxia; ophthalmoplegia; abnormality of extrapyramidal motor function; muscle spasticity

MGI Mouse Phenotypes related to Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.56 AFG3L2 CYCS DNM1L DNM3 MFN2 MSTO1
2 mortality/aging MP:0010768 9.23 AFG3L2 CYCS DNM1L DNM3 MFN2 MSTO1

Drugs & Therapeutics for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

Drugs for Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Desflurane Approved 57041-67-5 42113
2
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
3
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
4
Midazolam Approved, Illicit 59467-70-8 4192
5
Dexmedetomidine Approved, Vet_approved 113775-47-6 5311068 68602
6
Remifentanil Approved 132875-61-7 60815
7
Sevoflurane Approved, Vet_approved 28523-86-6 5206
8
Sufentanil Approved, Investigational 56030-54-7 41693
9
Etomidate Approved 33125-97-2 36339 667484
10
Alfentanil Approved, Illicit 71195-58-9 51263
11
Lidocaine Approved, Vet_approved 137-58-6 3676
12
Magnesium Sulfate Approved, Investigational, Vet_approved 7487-88-9 24083
13 Hypnotics and Sedatives
14 Anesthetics, Intravenous
15 Anesthetics, Inhalation
16 Anesthetics, General
17 Anesthetics
18 Analgesics, Opioid

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cross Sectional Study of Autosomal Dominant Opticus Atrophy Unknown status NCT01522638
2 Transcorneal Electrical Stimulation Therapy for Retinal Disease - A Randomized, Single-blind Pilot Study Completed NCT00804102
3 A Prospective, Blinded, Clinical Study for Assessing the Effectiveness of the NeuroSENSE for Monitoring the Hypnotic Depth of Anesthesia (DOA) Completed NCT02088671 Propofol induction followed by randomized doses of desflurane
4 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
5 Heart Rate Variability as Tool for Quantification of General Anesthesia Depth in Patients Recruiting NCT04788732

Search NIH Clinical Center for Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy

Genetic Tests for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

Genetic tests related to Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy:

# Genetic test Affiliating Genes
1 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 29 OPA1

Anatomical Context for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

MalaCards organs/tissues related to Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy:

40
Eye, Brain, Heart, Retina, Bone, Cortex, Liver

Publications for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

Articles related to Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy:

(show top 50) (show all 1074)
# Title Authors PMID Year
1
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. 57 6 61
18158317 2008
2
Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. 54 6 57
15531309 2004
3
The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene. 57 54 6
14644237 2003
4
Heterozygous OPA1 mutations in Behr syndrome. 6 57
21112924 2011
5
Multi-system neurological disease is common in patients with OPA1 mutations. 57 6
20157015 2010
6
OPA1 in multiple mitochondrial DNA deletion disorders. 6 57
19029523 2008
7
Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1. 6 57
18195150 2008
8
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. 57 6
16240368 2005
9
Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. 57 6
16158427 2005
10
A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy. 6 57
12566046 2003
11
Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO). 57 6
4058877 1985
12
Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome. 6 57
6493699 1984
13
Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy. 6 54
12488262 2003
14
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. 6 54
11017080 2000
15
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. 6
25564500 2015
16
Correlation between visual acuity and OCT-measured retinal nerve fiber layer thickness in a family with ADOA and an OPA1 mutation. 6
22779427 2013
17
High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy. 6
21745197 2012
18
Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation. 6
21646330 2011
19
Multiple sclerosis-like disorder in OPA1-related autosomal dominant optic atrophy. 57
18287570 2008
20
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. 57
18065439 2008
21
Reduction of inner retinal thickness in patients with autosomal dominant optic atrophy associated with OPA1 mutations. 6
17724190 2007
22
A novel OPA1 mutation responsible for autosomal dominant optic atrophy with high frequency hearing loss in a Chinese family. 6
17188070 2007
23
Dominant congenital deafness and progressive optic nerve atrophy. Occurrence in four generations of a family. 57
4544000 1974
24
Autosomal dominant hereditary optic neuropathy (ADOA): a review of the genetics and clinical manifestations of ADOA and ADOA+. 20
24138050 2013
25
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. 20
23388408 2013
26
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. 54 61
18222991 2008
27
The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment. 61 54
18193945 2008
28
Dominant optic atrophy caused by a novel OPA1 splice site mutation (IVS20+1G-->A) associated with intron retention. 54 61
16006781 2005
29
Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. 54 61
15505825 2004
30
OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. 54 61
11855928 2002
31
A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect. 54 61
11735024 2001
32
A high-density transcript map of the human dominant optic atrophy OPA1 gene locus and re-evaluation of evidence for a founder haplotype. 54 61
11306804 2001
33
The Arousal Disorders Questionnaire: a new and effective screening tool for confusional arousals, Sleepwalking and Sleep Terrors in epilepsy and sleep disorders units. 61
33610075 2021
34
A 1.5-D Array for Acoustic Radiation Force (ARF)-Induced Peak Displacement-Based Tissue Anisotropy Assessment With a Row-Column Excitation Method. 61
33044921 2021
35
Welfare of broiler chickens reared in two different industrial house types during the winter season in Southern Brazil. 61
33769158 2021
36
Electronic Point Spread Function Rotation Using a Three-Row Transducer for ARFI-Based Elastic Anisotropy Assessment: In Silico and Experimental Demonstration. 61
32833634 2021
37
Potential mechanism of GABA secretion in response to the activation of GluK1-containing kainate receptors. 61
33785410 2021
38
Sequential sparse Bayesian learning for time-varying direction of arrival. 61
33810770 2021
39
A Direction-of-Arrival Estimation Algorithm Based on Compressed Sensing and Density-Based Spatial Clustering and Its Application in Signal Processing of MEMS Vector Hydrophone. 61
33801009 2021
40
A Combinatorial Deep Learning Structure for Precise Depth of Anesthesia Estimation from EEG Signals. 61
33760743 2021
41
Content analysis of reported activities of the United Nations Road Safety Collaboration Members during the Decade of Action for Road Safety 2011-2020. 61
33674368 2021
42
Deep transfer learning for underwater direction of arrival using one vector sensor. 61
33765776 2021
43
Heart rate variability-derived features based on deep neural network for distinguishing different anaesthesia states. 61
33653263 2021
44
Multi-DOA estimation based on the KR image tensor and improved estimation network. 61
33737715 2021
45
Effects of age, weight, and housing system on prevalence of dead on arrival and carcass condemnation causes in laying hens. 61
33518312 2021
46
Comprehensive UHPLC-HR-MSE screening workflow optimized for use in routine laboratory medicine: Four workflows in one analytical method. 61
33561772 2021
47
m6A regulator-mediated RNA methylation modification patterns are involved in immune microenvironment regulation of periodontitis. 61
33724691 2021
48
Genetic meta-analysis of cancer diagnosis following statin use identifies new associations and implicates human leukocyte antigen (HLA) in women. 61
33649522 2021
49
Should We Just Let the Machines Do It? The Benefit and Cost of Action Recommendation and Action Implementation Automation. 61
33555966 2021
50
PrPC Aptamer Conjugated-Gold Nanoparticles for Targeted Delivery of Doxorubicin to Colorectal Cancer Cells. 61
33671292 2021

Variations for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

ClinVar genetic disease variations for Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy:

6 (show all 43)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OPA1 NM_015560.2(OPA1):c.1294A>G (p.Ile432Val) SNV Pathogenic 30460 rs387906899 GRCh37: 3:193361398-193361398
GRCh38: 3:193643609-193643609
2 OPA1 NM_015560.2(OPA1):c.1316G>T (p.Gly439Val) SNV Pathogenic 30462 rs387906900 GRCh37: 3:193361767-193361767
GRCh38: 3:193643978-193643978
3 OPA1 NM_015560.2(OPA1):c.2729T>A (p.Val910Asp) SNV Pathogenic 30463 rs387906901 GRCh37: 3:193384980-193384980
GRCh38: 3:193667191-193667191
4 OPA1 NM_015560.2(OPA1):c.1652G>A (p.Cys551Tyr) SNV Pathogenic 225120 rs879255592 GRCh37: 3:193364916-193364916
GRCh38: 3:193647127-193647127
5 OPA1 NM_015560.2(OPA1):c.1635C>G (p.Ser545Arg) SNV Pathogenic 30461 rs398124298 GRCh37: 3:193364899-193364899
GRCh38: 3:193647110-193647110
6 OPA1 NM_015560.2(OPA1):c.1745A>G (p.Tyr582Cys) SNV Pathogenic 5090 rs121908376 GRCh37: 3:193365898-193365898
GRCh38: 3:193648109-193648109
7 OPA1 NM_015560.2(OPA1):c.2848_2849del (p.Asp950fs) Deletion Pathogenic 5092 rs879255513 GRCh37: 3:193409881-193409882
GRCh38: 3:193692092-193692093
8 OPA1 NM_130837.3(OPA1):c.2287del (p.Ser763fs) Deletion Pathogenic 973235 GRCh37: 3:193374975-193374975
GRCh38: 3:193657186-193657186
9 OPA1 NM_130836.3(OPA1):c.556+1G>A SNV Pathogenic 692000 rs1577162868 GRCh37: 3:193335075-193335075
GRCh38: 3:193617286-193617286
10 OPA1 NM_015560.2(OPA1):c.1334G>A (p.Arg445His) SNV Pathogenic 5091 rs80356529 GRCh37: 3:193361785-193361785
GRCh38: 3:193643996-193643996
11 OPA1 NM_015560.2(OPA1):c.869G>A (p.Arg290Gln) SNV Likely pathogenic 5084 rs121908375 GRCh37: 3:193355069-193355069
GRCh38: 3:193637280-193637280
12 OPA1 NM_015560.2(OPA1):c.1346del (p.Thr449fs) Deletion Likely pathogenic 202168 rs794729196 GRCh37: 3:193361797-193361797
GRCh38: 3:193644008-193644008
13 OPA3 NM_025136.4(OPA3):c.*4696_*4699ATAA[8] Microsatellite Conflicting interpretations of pathogenicity 329598 rs58537694 GRCh37: 19:46052048-46052049
GRCh38: 19:45548790-45548791
14 OPA3 NM_025136.3(OPA3):c.-47_-40delGCCCCGCC Deletion Uncertain significance 329686 rs886054542 GRCh37: 19:46088062-46088069
GRCh38: 19:45584804-45584811
15 OPA3 NM_025136.4(OPA3):c.*4026del Deletion Uncertain significance 329612 rs879119658 GRCh37: 19:46052746-46052746
GRCh38: 19:45549488-45549488
16 OPA3 NM_025136.4(OPA3):c.*986dup Duplication Uncertain significance 329664 rs377547137 GRCh37: 19:46055785-46055786
GRCh38: 19:45552527-45552528
17 OPA3 NM_025136.4(OPA3):c.*4696_*4699ATAA[9] Microsatellite Uncertain significance 329599 rs58537694 GRCh37: 19:46052048-46052049
GRCh38: 19:45548790-45548791
18 OPA3 NM_025136.4(OPA3):c.*4919_*4921del Deletion Uncertain significance 329592 rs886054514 GRCh37: 19:46051851-46051853
GRCh38: 19:45548593-45548595
19 OPA3 NM_025136.4(OPA3):c.*4862_*4865del Deletion Uncertain significance 329593 rs886054515 GRCh37: 19:46051907-46051910
GRCh38: 19:45548649-45548652
20 OPA3 NM_001017989.3(OPA3):c.143-16812G>A SNV Uncertain significance 369267 rs192699227 GRCh37: 19:46049526-46049526
GRCh38: 19:45546268-45546268
21 OPA1 NM_015560.2(OPA1):c.2276-4dup Duplication Uncertain significance 262316 rs761286590 GRCh37: 3:193377266-193377267
GRCh38: 3:193659477-193659478
22 OPA1-AS1 , OPA1 NM_015560.2(OPA1):c.599C>T (p.Ser200Phe) SNV Uncertain significance 344482 rs200243596 GRCh37: 3:193336700-193336700
GRCh38: 3:193618911-193618911
23 OPA1 NM_001354663.2(OPA1):c.-260_-243del Deletion Uncertain significance 214916 rs863224140 GRCh37: 3:193332587-193332604
GRCh38: 3:193614798-193614815
24 OPA1 NM_015560.2(OPA1):c.344C>T (p.Ala115Val) SNV Uncertain significance 436107 rs200983556 GRCh37: 3:193332823-193332823
GRCh38: 3:193615034-193615034
25 OPA1 NM_130837.3(OPA1):c.2959C>T (p.Arg987Cys) SNV Uncertain significance 1027567 GRCh37: 3:193385045-193385045
GRCh38: 3:193667256-193667256
26 OPA3 NM_025136.4(OPA3):c.*7096_*7100del Deletion Uncertain significance 329552 rs565521231 GRCh37: 19:46049672-46049676
GRCh38: 19:45546414-45546418
27 OPA3 NM_025136.4(OPA3):c.*324_*325GT[1] Microsatellite Uncertain significance 329678 rs571672143 GRCh37: 19:46056445-46056446
GRCh38: 19:45553187-45553188
28 OPA3 NM_025136.4(OPA3):c.*4696_*4699ATAA[6] Microsatellite Uncertain significance 329600 rs58537694 GRCh37: 19:46052049-46052052
GRCh38: 19:45548791-45548794
29 OPA3 NM_025136.4(OPA3):c.*50_*52del Deletion Uncertain significance 329684 rs886054541 GRCh37: 19:46056720-46056722
GRCh38: 19:45553462-45553464
30 OPA3 NM_025136.4(OPA3):c.*4026dup Duplication Uncertain significance 329611 rs879119658 GRCh37: 19:46052745-46052746
GRCh38: 19:45549487-45549488
31 OPA1 NM_015560.2(OPA1):c.*2605_*2607del Deletion Uncertain significance 344516 rs886058260 GRCh37: 3:193414992-193414994
GRCh38: 3:193697203-193697205
32 OPA1 NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) SNV Uncertain significance 50866 rs143319805 GRCh37: 3:193361167-193361167
GRCh38: 3:193643378-193643378
33 OPA1 NM_130837.3(OPA1):c.267G>T (p.Trp89Cys) SNV Uncertain significance 982032 GRCh37: 3:193332746-193332746
GRCh38: 3:193614957-193614957
34 OPA3 NM_025136.4(OPA3):c.*4712del Deletion Uncertain significance 329601 rs886054518 GRCh37: 19:46052060-46052060
GRCh38: 19:45548802-45548802
35 OPA3 NM_025136.4(OPA3):c.*6436_*6437insG Insertion Uncertain significance 329564 rs886054506 GRCh37: 19:46050335-46050336
GRCh38: 19:45547077-45547078
36 OPA3 NM_025136.4(OPA3):c.*3343_*3347TCTTT[2] Microsatellite Likely benign 329626 rs373580645 GRCh37: 19:46053415-46053419
GRCh38: 19:45550157-45550161
37 OPA3 NM_025136.4(OPA3):c.*2143_*2144del Deletion Likely benign 329643 rs532263532 GRCh37: 19:46054628-46054629
GRCh38: 19:45551370-45551371
38 OPA3 NM_025136.4(OPA3):c.*6104_*6105del Deletion Likely benign 329572 rs142661638 GRCh37: 19:46050667-46050668
GRCh38: 19:45547409-45547410
39 OPA3 NM_025136.4(OPA3):c.*4132_*4136CCCTG[3] Microsatellite Benign 329610 rs68079762 GRCh37: 19:46052621-46052625
GRCh38: 19:45549363-45549367
40 OPA3 NM_025136.4(OPA3):c.*1294dup Duplication Benign 329657 rs74313320 GRCh37: 19:46055477-46055478
GRCh38: 19:45552219-45552220
41 OPA3 NM_025136.4(OPA3):c.*4850_*4852del Deletion Benign 329596 rs144752998 GRCh37: 19:46051920-46051922
GRCh38: 19:45548662-45548664
42 OPA3 NM_025136.4(OPA3):c.*3111_*3113AGC[3] Microsatellite Benign 329631 rs542311224 GRCh37: 19:46053655-46053656
GRCh38: 19:45550397-45550398
43 OPA3 NM_025136.4(OPA3):c.*986del Deletion Benign 329665 rs377547137 GRCh37: 19:46055786-46055786
GRCh38: 19:45552528-45552528

UniProtKB/Swiss-Prot genetic disease variations for Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy:

72
# Symbol AA change Variation ID SNP ID
1 OPA1 p.Arg445His VAR_015741 rs80356529
2 OPA1 p.Ser545Arg VAR_026533 rs398124298
3 OPA1 p.Ala357Thr VAR_060836 rs190223702
4 OPA1 p.Cys551Tyr VAR_060851 rs879255592
5 OPA1 p.Tyr582Cys VAR_060853 rs121908376
6 OPA1 p.Gly439Val VAR_072127 rs387906900
7 OPA1 p.Thr449Pro VAR_072128
8 OPA1 p.Val910Asp VAR_072132 rs387906901

Expression for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

Search GEO for disease gene expression data for Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy.

Pathways for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

Pathways related to Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.95 OPA1 CYCS AFG3L2

GO Terms for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

Cellular components related to Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.56 TIMM13 OPA1 CYCS AFG3L2
2 mitochondrial membrane GO:0031966 9.5 OPA1 DNM3 DNM1L
3 mitochondrial intermembrane space GO:0005758 9.33 TIMM13 OPA1 CYCS
4 mitochondrial outer membrane GO:0005741 9.26 OPA1 MSTO1 MFN2 DNM1L
5 mitochondrion GO:0005739 9.17 TIMM13 OPA1 MSTO1 MFN2 DNM1L CYCS

Biological processes related to Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 membrane fusion GO:0061025 9.54 OPA1 DNM3 DNM1L
2 protein targeting to mitochondrion GO:0006626 9.51 TIMM13 MFN2
3 mitochondrial fission GO:0000266 9.5 OPA1 DNM3 DNM1L
4 mitochondrion morphogenesis GO:0070584 9.49 OPA1 DNM1L
5 positive regulation of dendritic spine morphogenesis GO:0061003 9.48 OPA1 DNM1L
6 protein complex oligomerization GO:0051259 9.46 OPA1 DNM1L
7 calcium import into the mitochondrion GO:0036444 9.43 OPA1 AFG3L2
8 mitochondrial fusion GO:0008053 9.43 OPA1 MFN2 AFG3L2
9 intracellular distribution of mitochondria GO:0048312 9.4 OPA1 DNM1L
10 dynamin family protein polymerization involved in mitochondrial fission GO:0003374 9.33 OPA1 DNM3 DNM1L
11 organelle fission GO:0048285 9.13 OPA1 DNM3 DNM1L
12 mitochondrion organization GO:0007005 9.02 OPA1 MSTO1 DNM1L CYCS AFG3L2

Molecular functions related to Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.72 OPA1 MFN2 DNM3 DNM1L AFG3L2
2 hydrolase activity GO:0016787 9.65 OPA1 MFN2 DNM3 DNM1L AFG3L2
3 microtubule binding GO:0008017 9.33 OPA1 DNM3 DNM1L
4 GTP binding GO:0005525 9.26 OPA1 MFN2 DNM3 DNM1L
5 GTPase activity GO:0003924 8.92 OPA1 MFN2 DNM3 DNM1L

Sources for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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