MCID: OPT068
MIFTS: 32

Optic Atrophy 3, Autosomal Dominant

Categories: Genetic diseases, Rare diseases, Eye diseases, Metabolic diseases, Neuronal diseases, Ear 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 and Cataract, Autosomal Dominant 57 29 6 73
Autosomal Dominant Optic Atrophy and Cataract 53 59 75
Optic Atrophy 3 with Cataract 57 53 13
Opa3 57 53 75
Autosomal Dominant Optic Atrophy Type 3 53 59
Opa3, Autosomal Dominant 53 59
Optic Atrophy 3 53 75
Infantile Optic Atrophy with Chorea and Spastic Paraplegia 53
Optic Atrophy Infantile with Chorea and Spastic Paraplegia 53
Optic Atrophy, Cataract, and Neurologic Disorder 53
Autosomal Recessive Optic Atrophy Plus Syndrome 53
3-Alpha Methylglutaconic Aciduria Type Iii 53
Atrophy, Optic, Type 3, Autosomal Dominant 40
Autosomal Recessive Optic Atrophy Type 3 53
3-Methylglutaconic Aciduria Type Iii 53
3-Methylglutaconic Aciduria Type 3 73
Optic Atrophy 3 Autosomal Dominant 75
Iraqi Jewish Optic Atrophy Plus 53
Costeff Optic Atrophy Syndrome 53
Optic Atrophy Plus Syndrome 53
Costeff Syndrome 53
Mga Type Iii 53
Opa3 Defect 53
Adoac 75
Mga3 53

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant optic atrophy and cataract
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
optic atrophy 3, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Optic Atrophy 3, Autosomal Dominant

NIH Rare Diseases : 53 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, muscle spasticity and abnormality of extrapyramidal motor function. An important gene associated with Optic Atrophy 3, Autosomal Dominant is OPA3 (OPA3, Outer Mitochondrial Membrane Lipid Metabolism Regulator). Affiliated tissues include retina and eye, and related phenotypes are nystagmus and ataxia

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cataract
optic atrophy
decreased visual acuity

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


Clinical features from OMIM:

165300

Human phenotypes related to Optic Atrophy 3, Autosomal Dominant:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
3 cataract 59 32 Frequent (79-30%) HP:0000518
4 visual impairment 59 32 Obligate (100%) HP:0000505
5 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
6 blindness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000618
7 abnormality of the thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0001172
8 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
9 reduced visual acuity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007663
10 paresthesia 59 32 frequent (33%) Frequent (79-30%) HP:0003401
11 muscle cramps 59 32 frequent (33%) Frequent (79-30%) HP:0003394
12 pain 59 32 frequent (33%) Frequent (79-30%) HP:0012531
13 dyslexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0010522
14 central scotoma 59 32 frequent (33%) Frequent (79-30%) HP:0000603
15 postural tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002174
16 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
17 unsteady gait 59 32 frequent (33%) Frequent (79-30%) HP:0002317
18 absent achilles reflex 59 32 occasional (7.5%) Occasional (29-5%) HP:0003438
19 limited elbow extension 59 32 occasional (7.5%) Occasional (29-5%) HP:0001377
20 limited wrist movement 59 32 occasional (7.5%) Occasional (29-5%) HP:0006248
21 deviation of the 2nd finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0009468
22 resting tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002322
23 positive romberg sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0002403
24 posterior cortical cataract 59 32 frequent (33%) Frequent (79-30%) HP:0010924
25 tritanomaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000552
26 red-green dyschromatopsia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000642
27 extrapyramidal muscular rigidity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007076
28 posterior subcapsular cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0007787
29 anterior cortical cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0007795
30 cerulean cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0007976
31 anterior subcapsular cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0010923
32 tremor 32 HP:0001337
33 areflexia of lower limbs 59 Frequent (79-30%)
34 reduced tendon reflexes 59 Occasional (29-5%)
35 abnormality of the nervous system 32 HP:0000707
36 areflexia 59 Frequent (79-30%)
37 abnormality of extrapyramidal motor function 32 HP:0002071
38 sensory impairment 59 Frequent (79-30%)

UMLS symptoms related to Optic Atrophy 3, Autosomal Dominant:


ataxia, muscle spasticity, abnormality of extrapyramidal motor function

Drugs & Therapeutics for Optic Atrophy 3, Autosomal Dominant

Search Clinical Trials , 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 29 OPA3

Anatomical Context for Optic Atrophy 3, Autosomal Dominant

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

41
Retina, Eye

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

Variations for Optic Atrophy 3, Autosomal Dominant

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

75
# 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
# 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.235C> G (p.Leu79Val) single nucleotide variant Likely pathogenic rs886037828 GRCh37 Chromosome 19, 46057077: 46057077
6 OPA3 NM_025136.3(OPA3): c.235C> G (p.Leu79Val) single nucleotide variant Likely pathogenic rs886037828 GRCh38 Chromosome 19, 45553819: 45553819
7 OPA3 NM_025136.3(OPA3): c.367C> A (p.Arg123=) single nucleotide variant Likely benign rs1022155897 GRCh38 Chromosome 19, 45553687: 45553687
8 OPA3 NM_025136.3(OPA3): c.367C> A (p.Arg123=) single nucleotide variant Likely benign rs1022155897 GRCh37 Chromosome 19, 46056945: 46056945
9 OPA3 NM_001017989.2(OPA3): c.142+2_142+3dup duplication Uncertain significance GRCh37 Chromosome 19, 46087878: 46087879
10 OPA3 NM_001017989.2(OPA3): c.142+2_142+3dup duplication Uncertain significance GRCh38 Chromosome 19, 45584620: 45584621

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

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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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