MCID: OPT065
MIFTS: 20

Optic Atrophy 9

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

Aliases & Classifications for Optic Atrophy 9

MalaCards integrated aliases for Optic Atrophy 9:

Name: Optic Atrophy 9 57 75 29 6
Opa9 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
optic atrophy 9:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Optic Atrophy 9

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include retina, and related phenotypes are visual impairment and optic atrophy

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 9.0 ACO2 POLR3H

Symptoms & Phenotypes for Optic Atrophy 9

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
decreased visual acuity
optic atrophy
pallor of the optic disk
paracentral scotoma
red-green dyschromatopsia
more

Clinical features from OMIM:

616289

Human phenotypes related to Optic Atrophy 9:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 optic atrophy 32 HP:0000648
3 reduced visual acuity 32 HP:0007663
4 red-green dyschromatopsia 32 HP:0000642
5 paracentral scotoma 32 HP:0030528

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:

41
Retina

Publications for Optic Atrophy 9

Variations for Optic Atrophy 9

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

75
# 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 Uncertain significance rs141772938 GRCh37 Chromosome 22, 41903841: 41903841
2 ACO2 NM_001098.2(ACO2): c.220C> G (p.Leu74Val) single nucleotide variant Uncertain significance 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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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