OPA3
MCID: OPT068
MIFTS: 35

Optic Atrophy 3, Autosomal Dominant (OPA3)

Categories: Ear diseases, 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 58
Optic Atrophy and Cataract, Autosomal Dominant 58 26 30 6 74
Autosomal Dominant Optic Atrophy and Cataract 54 26 60 76
Opa3 58 54 26 76
Autosomal Dominant Optic Atrophy Type 3 54 26 60
Optic Atrophy 3 with Cataract 58 54 13
Opa3, Autosomal Dominant 54 26 60
Optic Atrophy, Cataract, and Neurologic Disorder 54 26
Optic Atrophy 3 54 76
Infantile Optic Atrophy with Chorea and Spastic Paraplegia 54
Optic Atrophy Infantile with Chorea and Spastic Paraplegia 54
Autosomal Recessive Optic Atrophy Plus Syndrome 54
3-Alpha Methylglutaconic Aciduria Type Iii 54
Atrophy, Optic, Type 3, Autosomal Dominant 41
Autosomal Recessive Optic Atrophy Type 3 54
3-Methylglutaconic Aciduria Type Iii 54
3-Methylglutaconic Aciduria Type 3 74
Optic Atrophy 3 Autosomal Dominant 76
Iraqi Jewish Optic Atrophy Plus 54
Costeff Optic Atrophy Syndrome 54
Optic Atrophy Plus Syndrome 54
Optic Atrophy Type 3 26
Costeff Syndrome 54
Mga Type Iii 54
Opa3 Defect 54
Adoac 76
Mga3 54

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant optic atrophy and cataract
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
optic atrophy 3, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Optic Atrophy 3, Autosomal Dominant

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 67036Disease definitionAutosomal dominant optic atrophy and cataract (ADOAC) is a form of autosomal dominant optic atrophy (ADOA; see this term) 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. ADOAC is caused by mutations in the OPA3 gene (19q13.32).Visit the Orphanet disease page for more resources.

MalaCards based summary : Optic Atrophy 3, Autosomal Dominant, also known as optic atrophy and cataract, autosomal dominant, is related to autosomal dominant optic atrophy plus 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). The drugs Heptavalent Pneumococcal Conjugate Vaccine and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are optic atrophy and nystagmus

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 165300

Related Diseases for Optic Atrophy 3, Autosomal Dominant

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:

60 33 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 60 33 very rare (1%) Very frequent (99-80%) HP:0000648
2 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
3 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
4 paresthesia 60 33 frequent (33%) Frequent (79-30%) HP:0003401
5 pain 60 33 frequent (33%) Frequent (79-30%) HP:0012531
6 central scotoma 60 33 frequent (33%) Frequent (79-30%) HP:0000603
7 postural tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002174
8 cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0001272
9 unsteady gait 60 33 frequent (33%) Frequent (79-30%) HP:0002317
10 posterior cortical cataract 60 33 frequent (33%) Frequent (79-30%) HP:0010924
11 muscle spasm 33 frequent (33%) HP:0003394
12 blindness 60 33 occasional (7.5%) Occasional (29-5%) HP:0000618
13 abnormal thumb morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0001172
14 pes cavus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001761
15 dyslexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0010522
16 absent achilles reflex 60 33 occasional (7.5%) Occasional (29-5%) HP:0003438
17 limited elbow extension 60 33 occasional (7.5%) Occasional (29-5%) HP:0001377
18 limited wrist movement 60 33 occasional (7.5%) Occasional (29-5%) HP:0006248
19 extrapyramidal muscular rigidity 60 33 occasional (7.5%) Occasional (29-5%) HP:0007076
20 deviation of the 2nd finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0009468
21 resting tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0002322
22 positive romberg sign 60 33 occasional (7.5%) Occasional (29-5%) HP:0002403
23 tritanomaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000552
24 red-green dyschromatopsia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000642
25 posterior subcapsular cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0007787
26 anterior cortical cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0007795
27 cerulean cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0007976
28 anterior subcapsular cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0010923
29 cataract 60 33 very rare (1%) Frequent (79-30%) HP:0000518
30 hearing impairment 33 very rare (1%) HP:0000365
31 optic disc pallor 33 very rare (1%) HP:0000543
32 scotoma 33 very rare (1%) HP:0000575
33 reduced visual acuity 60 33 Very frequent (99-80%) HP:0007663
34 tremor 33 HP:0001337
35 visual impairment 60 Obligate (100%)
36 areflexia of lower limbs 60 Frequent (79-30%)
37 reduced tendon reflexes 60 Occasional (29-5%)
38 muscle cramps 60 Frequent (79-30%)
39 areflexia 60 Frequent (79-30%)
40 abnormality of extrapyramidal motor function 33 HP:0002071
41 sensory impairment 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
cataract
optic atrophy
decreased visual acuity

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

Clinical features from OMIM:

165300

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

Drugs for Optic Atrophy 3, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Heptavalent Pneumococcal Conjugate Vaccine Phase 2, Phase 3,Phase 3
2 Vaccines Phase 2, Phase 3,Phase 3
3 Immunologic Factors Phase 2, Phase 3,Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of a Vaccine for Reducing Ear and Lung Infections in Children Completed NCT01545375 Phase 2, Phase 3
2 Primary Vaccination With Either Synflorix™ or Prevenar 13™ or Both Vaccines and Booster Vaccination With Synflorix™ Completed NCT01641133 Phase 3

Search NIH Clinical Center for Optic Atrophy 3, 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 and Cataract, Autosomal Dominant 30 OPA3

Anatomical Context for Optic Atrophy 3, Autosomal Dominant

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

42
Eye, Retina

Publications for Optic Atrophy 3, Autosomal Dominant

Articles related to Optic Atrophy 3, Autosomal Dominant:

# Title Authors Year
1
OPA3--related autosomal dominant optic atrophy and cataract with ataxia and areflexia. ( 22797356 )
2012
2
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. ( 15342707 )
2004
3
[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]. ( 13703570 )
1961

Variations for Optic Atrophy 3, Autosomal Dominant

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

76
# Symbol AA change Variation ID SNP ID
1 OPA3 p.Gly93Ser VAR_033103 rs80356524
2 OPA3 p.Gln105Glu VAR_033104 rs80356525

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

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 OPA3 NM_025136.3(OPA3): c.277G> A (p.Gly93Ser) single nucleotide variant Pathogenic rs80356524 GRCh37 Chromosome 19, 46057035: 46057035
2 OPA3 NM_025136.3(OPA3): c.277G> A (p.Gly93Ser) single nucleotide variant Pathogenic rs80356524 GRCh38 Chromosome 19, 45553777: 45553777
3 OPA3 NM_025136.3(OPA3): c.313C> G (p.Gln105Glu) single nucleotide variant Pathogenic rs80356525 GRCh37 Chromosome 19, 46056999: 46056999
4 OPA3 NM_025136.3(OPA3): c.313C> G (p.Gln105Glu) single nucleotide variant Pathogenic rs80356525 GRCh38 Chromosome 19, 45553741: 45553741
5 OPA3 NM_025136.3(OPA3): c.231T> C (p.Ala77=) single nucleotide variant Benign rs3826860 GRCh37 Chromosome 19, 46057081: 46057081
6 OPA3 NM_025136.3(OPA3): c.231T> C (p.Ala77=) single nucleotide variant Benign rs3826860 GRCh38 Chromosome 19, 45553823: 45553823
7 OPA3 NM_025136.3(OPA3): c.235C> G (p.Leu79Val) single nucleotide variant Likely pathogenic rs886037828 GRCh37 Chromosome 19, 46057077: 46057077
8 OPA3 NM_025136.3(OPA3): c.235C> G (p.Leu79Val) single nucleotide variant Likely pathogenic rs886037828 GRCh38 Chromosome 19, 45553819: 45553819
9 OPA3 NM_025136.3(OPA3): c.367C> A (p.Arg123=) single nucleotide variant Likely benign rs1022155897 GRCh38 Chromosome 19, 45553687: 45553687
10 OPA3 NM_025136.3(OPA3): c.367C> A (p.Arg123=) single nucleotide variant Likely benign rs1022155897 GRCh37 Chromosome 19, 46056945: 46056945
11 OPA3 NM_001017989.2(OPA3): c.142+2_142+3dup duplication Uncertain significance rs1555736791 GRCh37 Chromosome 19, 46087878: 46087879
12 OPA3 NM_001017989.2(OPA3): c.142+2_142+3dup duplication Uncertain significance rs1555736791 GRCh38 Chromosome 19, 45584620: 45584621
13 OPA3 NM_025136.3(OPA3): c.55G> A (p.Val19Ile) single nucleotide variant not provided GRCh37 Chromosome 19, 46087968: 46087968
14 OPA3 NM_025136.3(OPA3): c.55G> A (p.Val19Ile) single nucleotide variant not provided GRCh38 Chromosome 19, 45584710: 45584710

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

GO Terms for Optic Atrophy 3, Autosomal Dominant

Sources for Optic Atrophy 3, Autosomal Dominant

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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