OPA9
MCID: OPT065
MIFTS: 33

Optic Atrophy 9 (OPA9)

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

Aliases & Classifications for Optic Atrophy 9

MalaCards integrated aliases for Optic Atrophy 9:

Name: Optic Atrophy 9 57 12 72 29 6 15
Opa9 57 12 72
Atrophy, Optic, Type 9 39

Characteristics:

OMIM®:

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

Miscellaneous:
onset in first decade
two brothers in a french family have been reported (last curated march 2015)


HPO:

31
optic atrophy 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111442
OMIM® 57 616289
OMIM Phenotypic Series 57 PS165500
MeSH 44 D015418

Summaries for Optic Atrophy 9

Disease Ontology : 12 An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has material basis in homozygous or compound heterozygous mutation in ACO2 on chromosome 22q13.2.

MalaCards based summary : Optic Atrophy 9, also known as opa9, is related to autosomal recessive isolated optic atrophy and optic atrophy 6. An important gene associated with Optic Atrophy 9 is ACO2 (Aconitase 2). Affiliated tissues include retina and eye, and related phenotypes are optic atrophy and pallor

UniProtKB/Swiss-Prot : 72 Optic atrophy 9: 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.

More information from OMIM: 616289 PS165500

Related Diseases for Optic Atrophy 9

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 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive isolated optic atrophy 10.2 RTN4IP1 ACO2
2 optic atrophy 6 10.1 OPA3 GEN1
3 optic atrophy 10 with or without ataxia, mental retardation, and seizures 10.0 RTN4IP1 AFG3L2
4 3-methylglutaconic aciduria, type iv 10.0 SUCLA2 OPA3
5 fumarase deficiency 9.9 SUCLA2 ACO2
6 3-methylglutaconic aciduria, type v 9.9 SUCLA2 OPA3
7 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 9.9 SUCLA2 OPA3
8 infantile cerebellar-retinal degeneration 9.9 SUCLA2 POLR3H ACO2
9 organic acidemia 9.9 SUCLA2 OPA3
10 neuropathy, hereditary motor and sensory, type via, with optic atrophy 9.9 SPG7 OPA3
11 behr syndrome 9.8 SPG7 OPA3
12 optic atrophy 3, autosomal dominant 9.8 SPG7 OPA3
13 spinocerebellar ataxia, autosomal recessive 14 9.8 SPG7 AFG3L2
14 spastic ataxia 5 9.8 SPG7 AFG3L2
15 spastic ataxia 9.8 SPG7 AFG3L2
16 spastic paraplegia 7, autosomal recessive 9.8 SPG7 AFG3L2
17 spinocerebellar ataxia 28 9.7 SPG7 AFG3L2
18 cranial nerve disease 9.7 SPG7 OPA3
19 spastic paraparesis 9.6 SPG7 AFG3L2
20 optic atrophy 5 9.6 SPG7 OPA3 AFG3L2
21 hereditary ataxia 9.6 SPG7 AFG3L2 ACO2
22 optic nerve disease 9.6 SPG7 OPA3 AFG3L2
23 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 9.5 SUCLA2 SPG7 AFG3L2
24 spasticity 9.5 SPG7 AFG3L2
25 chronic progressive external ophthalmoplegia 9.3 SUCLA2 SPG7 OPA3 AFG3L2
26 kearns-sayre syndrome 9.3 SUCLA2 SPG7 OPA3 AFG3L2
27 3-methylglutaconic aciduria, type iii 9.1 SUCLA2 SPG7 RTN4IP1 OPA3 AFG3L2

Graphical network of the top 20 diseases related to Optic Atrophy 9:



Diseases related to Optic Atrophy 9

Symptoms & Phenotypes for Optic Atrophy 9

Human phenotypes related to Optic Atrophy 9:

31
# Description HPO Frequency HPO Source Accession
1 optic atrophy 31 HP:0000648
2 pallor 31 HP:0000980
3 reduced visual acuity 31 HP:0007663
4 red-green dyschromatopsia 31 HP:0000642
5 paracentral scotoma 31 HP:0030528

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
optic atrophy
red-green dyschromatopsia
paracentral scotoma
decreased visual acuity
pallor of the optic disk
more

Clinical features from OMIM®:

616289 (Updated 05-Apr-2021)

Drugs & Therapeutics for Optic Atrophy 9

Search Clinical Trials , NIH Clinical Center for Optic Atrophy 9

Genetic Tests for Optic Atrophy 9

Genetic tests related to Optic Atrophy 9:

# Genetic test Affiliating Genes
1 Optic Atrophy 9 29 ACO2

Anatomical Context for Optic Atrophy 9

MalaCards organs/tissues related to Optic Atrophy 9:

40
Retina, Eye

Publications for Optic Atrophy 9

Articles related to Optic Atrophy 9:

# Title Authors PMID Year
1
Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. 6 57
25351951 2014
2
Development of a RAPD marker-based classification criterion for quality semen production in Holstein crossbred bulls. 61
33559234 2021
3
Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes. 61
32449285 2020
4
Eye health of professional drivers of a Nigerian University. 61
20037620 2009
5
Detection of Bacillus thuringiensis kurstaki HD1 on cabbage for human consumption. 61
16553839 2006
6
[Individual and population variation in cercariae of bird schistosomes of the Trichobilharzia ocellata species group as revealed with the polymerase chain reaction]. 61
15771246 2005
7
Neuroophthalmological symptoms in children treated for internal hydrocephalus. 61
1840820 1991

Variations for Optic Atrophy 9

ClinVar genetic disease variations for Optic Atrophy 9:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLR3H , ACO2 NM_001098.3(ACO2):c.2253dup (p.Ile752fs) Duplication Pathogenic 931020 GRCh37: 22:41924525-41924526
GRCh38: 22:41528521-41528522
2 ACO2 NM_001098.3(ACO2):c.487G>T (p.Val163Leu) SNV Pathogenic 214016 rs759920667 GRCh37: 22:41907934-41907934
GRCh38: 22:41511930-41511930
3 ACO2 NM_001098.3(ACO2):c.220C>G (p.Leu74Val) SNV Pathogenic 189310 rs141772938 GRCh37: 22:41903841-41903841
GRCh38: 22:41507837-41507837
4 POLR3H , ACO2 NM_001098.3(ACO2):c.1981G>A (p.Gly661Arg) SNV Pathogenic 189311 rs752034900 GRCh37: 22:41923319-41923319
GRCh38: 22:41527315-41527315
5 ACO2 NM_001098.3(ACO2):c.76C>T (p.Leu26=) SNV Uncertain significance 374008 rs1057518832 GRCh37: 22:41895769-41895769
GRCh38: 22:41499765-41499765
6 ACO2 NM_001098.3(ACO2):c.75C>T (p.Val25=) SNV Uncertain significance 374009 rs1057518833 GRCh37: 22:41895768-41895768
GRCh38: 22:41499764-41499764
7 ACO2 NM_001098.3(ACO2):c.220C>G (p.Leu74Val) SNV Uncertain significance 189310 rs141772938 GRCh37: 22:41903841-41903841
GRCh38: 22:41507837-41507837
8 ACO2 NM_001098.3(ACO2):c.719G>C (p.Gly240Ala) SNV Uncertain significance 214018 rs141878785 GRCh37: 22:41911805-41911805
GRCh38: 22:41515801-41515801
9 POLR3H , ACO2 NM_001098.3(ACO2):c.2051G>A (p.Arg684Gln) SNV Uncertain significance 214022 rs200345386 GRCh37: 22:41923389-41923389
GRCh38: 22:41527385-41527385
10 ACO2 NM_001098.3(ACO2):c.719G>C (p.Gly240Ala) SNV Uncertain significance 214018 rs141878785 GRCh37: 22:41911805-41911805
GRCh38: 22:41515801-41515801
11 POLR3H , ACO2 NM_001098.3(ACO2):c.2145CAA[1] (p.Asn716del) Microsatellite Uncertain significance 1031822 GRCh37: 22:41923962-41923964
GRCh38: 22:41527958-41527960

UniProtKB/Swiss-Prot genetic disease variations for Optic Atrophy 9:

72
# Symbol AA change Variation ID SNP ID
1 ACO2 p.Leu74Val VAR_073435 rs141772938
2 ACO2 p.Gly661Arg VAR_073437 rs752034900

Expression for Optic Atrophy 9

Search GEO for disease gene expression data for Optic Atrophy 9.

Pathways for Optic Atrophy 9

GO Terms for Optic Atrophy 9

Cellular components related to Optic Atrophy 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.43 SUCLA2 SPG7 RTN4IP1 OPA3 AFG3L2 ACO2
2 m-AAA complex GO:0005745 8.62 SPG7 AFG3L2

Biological processes related to Optic Atrophy 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 9.37 SPG7 AFG3L2
2 tricarboxylic acid cycle GO:0006099 9.32 SUCLA2 ACO2
3 cristae formation GO:0042407 9.26 SPG7 AFG3L2
4 mitochondrial calcium ion transmembrane transport GO:0006851 9.16 SPG7 AFG3L2
5 mitochondrial fusion GO:0008053 8.96 SPG7 AFG3L2
6 mitochondrial protein processing GO:0034982 8.62 SPG7 AFG3L2

Molecular functions related to Optic Atrophy 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP-dependent peptidase activity GO:0004176 8.62 SPG7 AFG3L2

Sources for Optic Atrophy 9

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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