OPA3
MCID: OPT068
MIFTS: 45

Optic Atrophy 3, Autosomal Dominant (OPA3)

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

Aliases & Classifications for Optic Atrophy 3, Autosomal Dominant

MalaCards integrated aliases for Optic Atrophy 3, Autosomal Dominant:

Name: Optic Atrophy 3, Autosomal Dominant 57
Optic Atrophy 3 12 20 72 29 6 15
Autosomal Dominant Optic Atrophy and Cataract 12 20 43 58 72
Opa3 57 12 20 43 72
Optic Atrophy and Cataract, Autosomal Dominant 57 43 44 70
Autosomal Dominant Optic Atrophy Type 3 12 20 43 58
Optic Atrophy 3 with Cataract 57 12 20 13
Opa3, Autosomal Dominant 20 43 58
Optic Atrophy, Cataract, and Neurologic Disorder 20 43
Adoac 12 72
Atrophy, Optic, Type 3, Autosomal Dominant 39
3-Methylglutaconic Aciduria Type 3 70
Autosomal Dominant Optic Atrophy 3 12
Optic Atrophy 3 Autosomal Dominant 72
Optic Atrophy Type 3 43

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant optic atrophy and cataract
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

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

Miscellaneous:
onset of optic atrophy in childhood
neurologic symptoms are not always present or may appear late


HPO:

31
optic atrophy 3, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Inborn errors of metabolism


Summaries for Optic Atrophy 3, Autosomal Dominant

MedlinePlus Genetics : 43 Autosomal dominant optic atrophy and cataract is an eye disorder that is characterized by impaired vision. Most affected individuals have decreased sharpness of vision (visual acuity) from birth, while others begin to experience vision problems in early childhood or later. In affected individuals, both eyes are usually affected equally. However, the severity of the vision loss varies widely, even among affected members of the same family, ranging from nearly normal vision to complete blindness.Several abnormalities contribute to impaired vision in people with autosomal dominant optic atrophy and cataract. In the early stages of the condition, affected individuals experience a progressive loss of certain cells within the retina, which is a specialized light-sensitive tissue that lines the back of the eye. The loss of these cells (known as retinal ganglion cells) is followed by the degeneration (atrophy) of the nerves that relay visual information from the eyes to the brain (optic nerves), which contributes to vision loss. Atrophy of these nerves causes an abnormally pale appearance (pallor) of the optic nerves, which can be seen only during an eye examination. Most people with this disorder also have clouding of the lenses of the eyes (cataracts). This eye abnormality can develop anytime but typically appears in childhood. Other common eye problems in autosomal dominant optic atrophy and cataract include involuntary movements of the eyes (nystagmus), or problems with color vision (color vision deficiency) that make it difficult or impossible to distinguish between shades of blue and green.Some people with autosomal dominant optic atrophy and cataract develop disturbances in the function of other nerves (neuropathy) besides the optic nerves. These disturbances can lead to problems with balance and coordination (cerebellar ataxia), an unsteady style of walking (gait), prickling or tingling sensations (paresthesias) in the arms and legs, progressive muscle stiffness (spasticity), or rhythmic shaking (tremors). In some cases, affected individuals have hearing loss caused by abnormalities of the inner ear (sensorineural deafness).

MalaCards based summary : Optic Atrophy 3, Autosomal Dominant, also known as optic atrophy 3, is related to marinesco-sjogren syndrome and 3-methylglutaconic aciduria, type iii, and has symptoms including ataxia, abnormality of extrapyramidal motor function and muscle spasticity. An important gene associated with Optic Atrophy 3, Autosomal Dominant is OPA3 (Outer Mitochondrial Membrane Lipid Metabolism Regulator OPA3), and among its related pathways/superpathways is Mitophagy. Affiliated tissues include eye and retina, and related phenotypes are optic atrophy and nystagmus

Disease Ontology : 12 An optic atrophy characterized by optic atrophy and cataract that has material basis in heterozygous mutation in OPA3 on chromosome 19q13.32.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 67036 Definition A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the OPA3 gene (19q13.32).

UniProtKB/Swiss-Prot : 72 Optic atrophy 3: 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. OPA3 is associated with cataract and a neurologic disorder characterized by extrapyramidal signs and ataxia.

More information from OMIM: 165300 PS165500

Related Diseases for Optic Atrophy 3, Autosomal Dominant

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 Optic Atrophy 12

Diseases related to Optic Atrophy 3, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 marinesco-sjogren syndrome 31.7 OPA3 CRYAA
2 3-methylglutaconic aciduria, type iii 31.7 TMEM126A SPG7 SLC25A46 OPA3 MFN2 MFN1
3 optic atrophy 6 31.6 TMEM126A OPA3
4 optic atrophy 8 31.6 TMEM126A OPA3
5 optic atrophy 4 31.6 TMEM126A OPA3
6 optic atrophy 7 with or without auditory neuropathy 31.6 TMEM126A OPA3
7 optic atrophy 2 31.6 TMEM126A OPA3
8 tritanopia 31.6 TMEM126A OPA3
9 wolfram syndrome 31.5 TMEM126A OPA3 CRYAA
10 scotoma 31.5 TMEM126A OPA3
11 optic atrophy 9 31.4 SPG7 OPA3
12 toxic optic neuropathy 31.3 TMEM126A OPA3 MFN2
13 kearns-sayre syndrome 31.2 SPG7 OPA3 MFN2
14 chronic progressive external ophthalmoplegia 31.1 SPG7 OPA3 MFN2
15 behr syndrome 31.1 TMEM126A SPG7 SLC25A46 OPA3 MFN2
16 optic atrophy 5 30.9 TMEM126A SPG7 OPA3 MFN2
17 peripheral nervous system disease 30.7 SPG7 OPA3 MFN2 MFN1 CRYAA
18 cranial nerve disease 30.6 SPG7 OPA3 MFN2 MFN1 CRYAA
19 neuropathy, hereditary motor and sensory, type via, with optic atrophy 30.5 TMEM126A SPG7 SLC25A46 OPA3 MFN2
20 leber hereditary optic neuropathy, modifier of 30.5 TMEM126A SPG7 OPA3 MFN2 MFN1 CRYAA
21 optic atrophy 1 30.1 SPG7 MFN2 MFN1
22 optic nerve disease 30.1 TMEM126A SPG7 SLC25A46 OPA3 MFN2 MFN1
23 neuropathy 29.6 TMEM126A SPG7 SLC25A46 MFN2
24 3-methylglutaconic aciduria 11.3
25 cataract 11.2
26 leber plus disease 11.0
27 3-methylglutaconic aciduria, type i 10.8
28 3-methylglutaconic aciduria, type iv 10.8
29 barth syndrome 10.8
30 3-methylglutaconic aciduria, type v 10.8
31 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 10.8
32 organic acidemia 10.8
33 lens disease 10.8
34 nutritional optic neuropathy 10.8
35 amino acid metabolic disorder 10.8
36 ataxia and polyneuropathy, adult-onset 10.2
37 axonal neuropathy 10.2
38 autonomic dysfunction 10.2
39 charcot-marie-tooth disease, axonal, type 2l 10.1 MFN2 CRYAA
40 spasticity 10.1
41 hereditary optic neuropathy 10.1
42 charcot-marie-tooth disease, recessive intermediate a 10.1 MICU3 MFN2
43 dilated cardiomyopathy 10.1
44 skin amelanotic melanoma 10.1 MFN2 MFN1
45 spastic paraplegia 13, autosomal dominant 10.0 SPG7 CRYAA
46 spinocerebellar ataxia 28 10.0 SPG7 CRYAA
47 atrial standstill 1 10.0
48 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 10.0
49 chorea, childhood-onset, with psychomotor retardation 10.0
50 choreatic disease 10.0

Graphical network of the top 20 diseases related to Optic Atrophy 3, Autosomal Dominant:



Diseases related to Optic Atrophy 3, Autosomal Dominant

Symptoms & Phenotypes for Optic Atrophy 3, Autosomal Dominant

Human phenotypes related to Optic Atrophy 3, Autosomal Dominant:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 58 31 very rare (1%) Very frequent (99-80%) HP:0000648
2 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
3 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
4 paresthesia 58 31 frequent (33%) Frequent (79-30%) HP:0003401
5 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
6 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
7 pain 58 31 frequent (33%) Frequent (79-30%) HP:0012531
8 muscle spasm 58 31 frequent (33%) Frequent (79-30%) HP:0003394
9 central scotoma 58 31 frequent (33%) Frequent (79-30%) HP:0000603
10 postural tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002174
11 posterior cortical cataract 58 31 frequent (33%) Frequent (79-30%) HP:0010924
12 blindness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000618
13 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
14 dyslexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010522
15 positive romberg sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0002403
16 abnormal thumb morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001172
17 limited wrist movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0006248
18 extrapyramidal muscular rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007076
19 deviation of the 2nd finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009468
20 limited elbow extension 58 31 occasional (7.5%) Occasional (29-5%) HP:0001377
21 absent achilles reflex 58 31 occasional (7.5%) Occasional (29-5%) HP:0003438
22 resting tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002322
23 tritanomaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000552
24 red-green dyschromatopsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000642
25 posterior subcapsular cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0007787
26 anterior cortical cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0007795
27 cerulean cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0007976
28 anterior subcapsular cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0010923
29 cataract 58 31 very rare (1%) Frequent (79-30%) HP:0000518
30 hearing impairment 31 very rare (1%) HP:0000365
31 scotoma 31 very rare (1%) HP:0000575
32 optic disc pallor 31 very rare (1%) HP:0000543
33 reduced visual acuity 58 31 Very frequent (99-80%) HP:0007663
34 tremor 31 HP:0001337
35 visual impairment 58 Obligate (100%)
36 reduced tendon reflexes 58 Occasional (29-5%)
37 areflexia 58 Frequent (79-30%)
38 abnormality of extrapyramidal motor function 31 HP:0002071
39 sensory impairment 58 Frequent (79-30%)
40 areflexia of lower limbs 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
cataract
optic atrophy
decreased visual acuity

Neurologic Central Nervous System:
tremor, mild
extrapyramidal signs, mild

Clinical features from OMIM®:

165300 (Updated 05-Apr-2021)

UMLS symptoms related to Optic Atrophy 3, Autosomal Dominant:


ataxia; abnormality of extrapyramidal motor function; muscle spasticity

Drugs & Therapeutics for Optic Atrophy 3, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Optic Atrophy 3, Autosomal Dominant

Cochrane evidence based reviews: optic atrophy and cataract, autosomal dominant

Genetic Tests for Optic Atrophy 3, Autosomal Dominant

Genetic tests related to Optic Atrophy 3, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Optic Atrophy 3 29 OPA3

Anatomical Context for Optic Atrophy 3, Autosomal Dominant

MalaCards organs/tissues related to Optic Atrophy 3, Autosomal Dominant:

40
Eye, Retina

Publications for Optic Atrophy 3, Autosomal Dominant

Articles related to Optic Atrophy 3, Autosomal Dominant:

(show all 21)
# Title Authors PMID Year
1
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. 6 57
15342707 2004
2
Costeff optic atrophy syndrome: new clinical case and novel molecular findings. 61 6
18985435 2008
3
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia. 6
27629047 2016
4
Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep. 6
26190011 2015
5
Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy. 6
25159689 2015
6
Costeff syndrome: clinical features and natural history. 6
25201222 2014
7
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network. 6
24136862 2013
8
Hereditary optic neuropathies share a common mitochondrial coupling defect. 57
18496845 2008
9
[An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs]. 57
15924081 2005
10
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. 6
11668429 2001
11
[On a heredo-familial disease combining cataract, optic atrophy, extrapyramidal symptoms and certain defects of Friedreich's disease. (Its nosological position in relation to the Behr's syndrome, the Marinesco-Sjogren syndrome and Friedreich's disease with ocular symptoms]. 57
13703570 1961
12
Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation. 61
28050599 2017
13
Detection of the nonsense mutation of OPA3 gene in Holstein Friesian cattle with dilated cardiomyopathy in Japan. 61
25947227 2015
14
[Identification of proteins interacting with the circadian clock protein PER1 in tumors using bacterial two-hybrid system technique]. 61
25863084 2015
15
Intra-Arterial Chemotherapy for Retinoblastoma: A Single-Center Experience. 61
26368674 2015
16
The peculiar challenges of blindness prevention in Nigeria: a review article. 61
22783680 2011
17
A nonsense mutation in the optic atrophy 3 gene (OPA3) causes dilated cardiomyopathy in Red Holstein cattle. 61
20923700 2011
18
Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation. 61
20372962 2010
19
A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3. 61
20627962 2010
20
Trabeculectomy with mitomycin-C in uveitic glaucoma associated with Behçet disease. 61
15534468 2004
21
Posterior ischemic optic neuropathy. III. Clinical diagnosis. 61
6634061 1983

Variations for Optic Atrophy 3, Autosomal Dominant

ClinVar genetic disease variations for Optic Atrophy 3, Autosomal Dominant:

6 (show top 50) (show all 222)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OPA3 NM_025136.4(OPA3):c.277G>A (p.Gly93Ser) SNV Pathogenic 4240 rs80356524 GRCh37: 19:46057035-46057035
GRCh38: 19:45553777-45553777
2 OPA3 NC_000019.10:g.(?_45584613)_(45584774_?)del Deletion Pathogenic 831267 GRCh37: 19:46087871-46088032
GRCh38:
3 OPA3 NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) SNV Pathogenic 4241 rs80356525 GRCh37: 19:46056999-46056999
GRCh38: 19:45553741-45553741
4 OPA3 NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) SNV Pathogenic 4241 rs80356525 GRCh37: 19:46056999-46056999
GRCh38: 19:45553741-45553741
5 OPA3 NM_025136.4(OPA3):c.143-2_143-1delinsCC Indel Pathogenic 952107 GRCh37: 19:46057170-46057171
GRCh38: 19:45553912-45553913
6 OPA3 NM_025136.4(OPA3):c.143-1G>C SNV Pathogenic 4239 rs80356523 GRCh37: 19:46057170-46057170
GRCh38: 19:45553912-45553912
7 OPA3 NC_000019.10:g.(?_45553504)_(45553921_?)del Deletion Likely pathogenic 830708 GRCh37: 19:46056762-46057179
GRCh38:
8 OPA3 NM_025136.4(OPA3):c.235C>G (p.Leu79Val) SNV Likely pathogenic 225178 rs886037828 GRCh37: 19:46057077-46057077
GRCh38: 19:45553819-45553819
9 OPA3 NM_025136.4(OPA3):c.*1213C>T SNV Uncertain significance 329660 rs539298843 GRCh37: 19:46055559-46055559
GRCh38: 19:45552301-45552301
10 OPA3 NM_025136.4(OPA3):c.*1799A>G SNV Uncertain significance 329651 rs886054530 GRCh37: 19:46054973-46054973
GRCh38: 19:45551715-45551715
11 OPA3 NM_025136.4(OPA3):c.*649C>T SNV Uncertain significance 329670 rs886054537 GRCh37: 19:46056123-46056123
GRCh38: 19:45552865-45552865
12 OPA3 NM_025136.4(OPA3):c.*4969C>G SNV Uncertain significance 329589 rs886054513 GRCh37: 19:46051803-46051803
GRCh38: 19:45548545-45548545
13 OPA3 NM_025136.4(OPA3):c.*3845C>T SNV Uncertain significance 329618 rs886054525 GRCh37: 19:46052927-46052927
GRCh38: 19:45549669-45549669
14 OPA3 NM_025136.4(OPA3):c.*1076A>G SNV Uncertain significance 329663 rs886054533 GRCh37: 19:46055696-46055696
GRCh38: 19:45552438-45552438
15 OPA3 NM_025136.4(OPA3):c.*2490C>T SNV Uncertain significance 329640 rs11671670 GRCh37: 19:46054282-46054282
GRCh38: 19:45551024-45551024
16 OPA3 NM_025136.4(OPA3):c.*545G>T SNV Uncertain significance 329673 rs886054538 GRCh37: 19:46056227-46056227
GRCh38: 19:45552969-45552969
17 OPA3 NM_025136.4(OPA3):c.*5774G>T SNV Uncertain significance 329580 rs886054510 GRCh37: 19:46050998-46050998
GRCh38: 19:45547740-45547740
18 OPA3 NM_025136.4(OPA3):c.*4585C>T SNV Uncertain significance 329604 rs886054520 GRCh37: 19:46052187-46052187
GRCh38: 19:45548929-45548929
19 OPA3 NM_025136.4(OPA3):c.*4586G>A SNV Uncertain significance 329603 rs886054519 GRCh37: 19:46052186-46052186
GRCh38: 19:45548928-45548928
20 OPA3 NM_025136.4(OPA3):c.*6072A>G SNV Uncertain significance 329573 rs576104602 GRCh37: 19:46050700-46050700
GRCh38: 19:45547442-45547442
21 OPA3 NM_025136.4(OPA3):c.*5739C>T SNV Uncertain significance 329582 rs375835737 GRCh37: 19:46051033-46051033
GRCh38: 19:45547775-45547775
22 OPA3 NM_025136.4(OPA3):c.*4853T>A SNV Uncertain significance 329595 rs886054516 GRCh37: 19:46051919-46051919
GRCh38: 19:45548661-45548661
23 OPA3 NM_025136.4(OPA3):c.*922G>T SNV Uncertain significance 329666 rs886054535 GRCh37: 19:46055850-46055850
GRCh38: 19:45552592-45552592
24 OPA3 NM_025136.4(OPA3):c.*677C>T SNV Uncertain significance 329669 rs560749495 GRCh37: 19:46056095-46056095
GRCh38: 19:45552837-45552837
25 OPA3 NM_025136.4(OPA3):c.*2590G>T SNV Uncertain significance 329637 rs886054527 GRCh37: 19:46054182-46054182
GRCh38: 19:45550924-45550924
26 OPA3 NM_025136.4(OPA3):c.*5258A>G SNV Uncertain significance 329588 rs886054512 GRCh37: 19:46051514-46051514
GRCh38: 19:45548256-45548256
27 OPA3 NM_025136.4(OPA3):c.*6125G>A SNV Uncertain significance 329571 rs780617440 GRCh37: 19:46050647-46050647
GRCh38: 19:45547389-45547389
28 OPA3 NM_025136.4(OPA3):c.*6570G>C SNV Uncertain significance 329561 rs773109015 GRCh37: 19:46050202-46050202
GRCh38: 19:45546944-45546944
29 OPA3 NM_025136.4(OPA3):c.*3755G>A SNV Uncertain significance 329619 rs555830952 GRCh37: 19:46053017-46053017
GRCh38: 19:45549759-45549759
30 OPA3 NM_025136.4(OPA3):c.*1091C>G SNV Uncertain significance 329662 rs557691359 GRCh37: 19:46055681-46055681
GRCh38: 19:45552423-45552423
31 OPA3 NM_025136.4(OPA3):c.*5774G>C SNV Uncertain significance 329581 rs886054510 GRCh37: 19:46050998-46050998
GRCh38: 19:45547740-45547740
32 OPA3 NM_025136.4(OPA3):c.*6461C>T SNV Uncertain significance 329562 rs886054505 GRCh37: 19:46050311-46050311
GRCh38: 19:45547053-45547053
33 OPA3 NM_025136.4(OPA3):c.*6902G>A SNV Uncertain significance 329555 rs528812143 GRCh37: 19:46049870-46049870
GRCh38: 19:45546612-45546612
34 OPA3 NM_025136.4(OPA3):c.*420A>G SNV Uncertain significance 329675 rs868102539 GRCh37: 19:46056352-46056352
GRCh38: 19:45553094-45553094
35 OPA3 NM_025136.4(OPA3):c.*3496C>G SNV Uncertain significance 329623 rs749084024 GRCh37: 19:46053276-46053276
GRCh38: 19:45550018-45550018
36 OPA3 NM_025136.4(OPA3):c.*4521G>A SNV Uncertain significance 329605 rs886054521 GRCh37: 19:46052251-46052251
GRCh38: 19:45548993-45548993
37 OPA3 NM_025136.4(OPA3):c.*2089T>C SNV Uncertain significance 329645 rs886054529 GRCh37: 19:46054683-46054683
GRCh38: 19:45551425-45551425
38 OPA3 NM_025136.4(OPA3):c.*2702G>T SNV Uncertain significance 329635 rs886054526 GRCh37: 19:46054070-46054070
GRCh38: 19:45550812-45550812
39 OPA3 NM_025136.4(OPA3):c.*6361G>A SNV Uncertain significance 892795 GRCh37: 19:46050411-46050411
GRCh38: 19:45547153-45547153
40 OPA3 NM_025136.4(OPA3):c.*821A>T SNV Uncertain significance 329667 rs886054536 GRCh37: 19:46055951-46055951
GRCh38: 19:45552693-45552693
41 OPA3 NM_025136.4(OPA3):c.142+2_142+3dup Duplication Uncertain significance 531189 rs1555736791 GRCh37: 19:46087877-46087878
GRCh38: 19:45584619-45584620
42 OPA3 NM_025136.4(OPA3):c.305_322dup (p.Gln108_Arg109insArgArgHisGlnAlaGln) Duplication Uncertain significance 656181 rs1599964564 GRCh37: 19:46056989-46056990
GRCh38: 19:45553731-45553732
43 OPA3 NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs) Duplication Uncertain significance 659433 rs1599947052 GRCh37: 19:46032389-46032390
GRCh38: 19:45529131-45529132
44 OPA3 NM_025136.4(OPA3):c.*4763C>A SNV Uncertain significance 892895 GRCh37: 19:46052009-46052009
GRCh38: 19:45548751-45548751
45 OPA3 NM_025136.4(OPA3):c.*4618G>A SNV Uncertain significance 892896 GRCh37: 19:46052154-46052154
GRCh38: 19:45548896-45548896
46 OPA3 NM_025136.4(OPA3):c.*3358C>G SNV Uncertain significance 892973 GRCh37: 19:46053414-46053414
GRCh38: 19:45550156-45550156
47 OPA3 NM_025136.4(OPA3):c.*2859A>T SNV Uncertain significance 893014 GRCh37: 19:46053913-46053913
GRCh38: 19:45550655-45550655
48 OPA3 NM_025136.4(OPA3):c.*2726G>C SNV Uncertain significance 893015 GRCh37: 19:46054046-46054046
GRCh38: 19:45550788-45550788
49 OPA3 NM_025136.4(OPA3):c.*2041C>G SNV Uncertain significance 893055 GRCh37: 19:46054731-46054731
GRCh38: 19:45551473-45551473
50 OPA3 NM_025136.4(OPA3):c.*1462C>T SNV Uncertain significance 893096 GRCh37: 19:46055310-46055310
GRCh38: 19:45552052-45552052

UniProtKB/Swiss-Prot genetic disease variations for Optic Atrophy 3, Autosomal Dominant:

72
# Symbol AA change Variation ID SNP ID
1 OPA3 p.Gly93Ser VAR_033103 rs80356524
2 OPA3 p.Gln105Glu VAR_033104 rs80356525

Expression for Optic Atrophy 3, Autosomal Dominant

Search GEO for disease gene expression data for Optic Atrophy 3, Autosomal Dominant.

Pathways for Optic Atrophy 3, Autosomal Dominant

Pathways related to Optic Atrophy 3, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.29 MFN2 MFN1

GO Terms for Optic Atrophy 3, Autosomal Dominant

Cellular components related to Optic Atrophy 3, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial outer membrane GO:0005741 9.33 SLC25A46 MFN2 MFN1
2 mitochondrion GO:0005739 9.28 TMEM126A SPG7 SLC25A46 PNPT1 OPA3 MTFR1
3 intrinsic component of mitochondrial outer membrane GO:0031306 8.96 MFN2 MFN1

Biological processes related to Optic Atrophy 3, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to cAMP GO:0051591 9.26 PNPT1 PER1
2 mitochondrial calcium ion transmembrane transport GO:0006851 9.16 SPG7 MICU3
3 mitochondrion localization GO:0051646 8.96 MFN2 MFN1
4 mitochondrial fusion GO:0008053 8.8 SPG7 MFN2 MFN1

Sources for Optic Atrophy 3, Autosomal Dominant

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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