OPA9
MCID: OPT065
MIFTS: 24

Optic Atrophy 9 (OPA9)

Categories: Ear diseases, 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 58 76 30 6
Opa9 58 76
Atrophy, Optic, Type 9 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
optic atrophy 9:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Optic Atrophy 9

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Optic Atrophy 9, also known as opa9, is related to infantile cerebellar-retinal degeneration. An important gene associated with Optic Atrophy 9 is ACO2 (Aconitase 2). The drugs Heptavalent Pneumococcal Conjugate Vaccine and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include retina and eye, and related phenotypes are optic atrophy and pallor

Description from OMIM: 616289

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 Autosomal Dominant Optic Atrophy Plus Syndrome

Diseases related to Optic Atrophy 9 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 infantile cerebellar-retinal degeneration 9.5 ACO2 POLR3H

Symptoms & Phenotypes for Optic Atrophy 9

Human phenotypes related to Optic Atrophy 9:

33
# Description HPO Frequency HPO Source Accession
1 optic atrophy 33 HP:0000648
2 pallor 33 HP:0000980
3 reduced visual acuity 33 HP:0007663
4 red-green dyschromatopsia 33 HP:0000642
5 paracentral scotoma 33 HP:0030528

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
optic atrophy
red-green dyschromatopsia
decreased visual acuity
pallor of the optic disk
paracentral scotoma
more

Clinical features from OMIM:

616289

Drugs & Therapeutics for Optic Atrophy 9

Drugs for Optic Atrophy 9 (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 9

Genetic Tests for Optic Atrophy 9

Genetic tests related to Optic Atrophy 9:

# Genetic test Affiliating Genes
1 Optic Atrophy 9 30 ACO2

Anatomical Context for Optic Atrophy 9

MalaCards organs/tissues related to Optic Atrophy 9:

42
Retina, Eye

Publications for Optic Atrophy 9

Articles related to Optic Atrophy 9:

# Title Authors Year
1
Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. ( 25351951 )
2014

Variations for Optic Atrophy 9

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

76
# Symbol AA change Variation ID SNP ID
1 ACO2 p.Leu74Val VAR_073435 rs141772938
2 ACO2 p.Gly661Arg VAR_073437 rs752034900

ClinVar genetic disease variations for Optic Atrophy 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ACO2 NM_001098.2(ACO2): c.220C> G (p.Leu74Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141772938 GRCh37 Chromosome 22, 41903841: 41903841
2 ACO2 NM_001098.2(ACO2): c.220C> G (p.Leu74Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141772938 GRCh38 Chromosome 22, 41507837: 41507837
3 ACO2 NM_001098.2(ACO2): c.1981G> A (p.Gly661Arg) single nucleotide variant Pathogenic rs752034900 GRCh38 Chromosome 22, 41527315: 41527315
4 ACO2 NM_001098.2(ACO2): c.1981G> A (p.Gly661Arg) single nucleotide variant Pathogenic rs752034900 GRCh37 Chromosome 22, 41923319: 41923319
5 ACO2 NM_001098.2(ACO2): c.719G> C (p.Gly240Ala) single nucleotide variant Uncertain significance rs141878785 GRCh38 Chromosome 22, 41515801: 41515801
6 ACO2 NM_001098.2(ACO2): c.719G> C (p.Gly240Ala) single nucleotide variant Uncertain significance rs141878785 GRCh37 Chromosome 22, 41911805: 41911805
7 ACO2 NM_001098.2(ACO2): c.2051G> A (p.Arg684Gln) single nucleotide variant Uncertain significance rs200345386 GRCh38 Chromosome 22, 41527385: 41527385
8 ACO2 NM_001098.2(ACO2): c.2051G> A (p.Arg684Gln) single nucleotide variant Uncertain significance rs200345386 GRCh37 Chromosome 22, 41923389: 41923389

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

Sources for Optic Atrophy 9

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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