OPA8
MCID: OPT060
MIFTS: 28

Optic Atrophy 8 (OPA8)

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

Aliases & Classifications for Optic Atrophy 8

MalaCards integrated aliases for Optic Atrophy 8:

Name: Optic Atrophy 8 57 12 29 15
Opa8 57 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset of visual loss in the first or second decades
hearing loss occurs later if at all
one large italian kindred has been reported (last curated november 2015)


HPO:

31
optic atrophy 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111439
OMIM® 57 616648
OMIM Phenotypic Series 57 PS165500
MedGen 41 C4085249

Summaries for Optic Atrophy 8

OMIM® : 57 Optic atrophy-8 (OPA8) is an autosomal dominant neurologic disorder characterized by progressive visual loss during the first or second decade of life. Some patients may have additional features, mainly late-onset sensorineural hearing loss. For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500). (616648) (Updated 05-Apr-2021)

MalaCards based summary : Optic Atrophy 8, also known as opa8, is related to 3-methylglutaconic aciduria, type iii and optic atrophy 1. An important gene associated with Optic Atrophy 8 is OPA8 (Optic Atrophy 8 (Autosomal Dominant)). Affiliated tissues include skeletal muscle, and related phenotypes are mitral regurgitation and mitral valve prolapse

Disease Ontology : 12 An optic atrophy characterized by progressive visual loss during the first or second decade of life that has material basis in heterozygous mutation in a region on chromosome 16q21-q22.

Related Diseases for Optic Atrophy 8

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 29.3 WFS1 TMEM126A OPA8 OPA3 OMA1
2 optic atrophy 1 29.1 YME1L1 OMA1
3 optic nerve disease 28.7 YME1L1 WFS1 TMEM126A OPA3 OMA1
4 optic atrophy 6 10.2 TMEM126A OPA3
5 toxic optic neuropathy 10.1 TMEM126A OPA3
6 optic atrophy 2 10.1 TMEM126A OPA3
7 tritanopia 10.1 TMEM126A OPA3
8 neuropathy, hereditary motor and sensory, type via, with optic atrophy 10.1 TMEM126A OPA3
9 behr syndrome 10.1 TMEM126A OPA3
10 optic atrophy 3, autosomal dominant 10.1 TMEM126A OPA3
11 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 10.1
12 scotoma 10.0 TMEM126A OPA3
13 wolfram syndrome 2 9.9 WFS1 TMEM126A
14 optic atrophy 7 with or without auditory neuropathy 9.9 WFS1 TMEM126A OPA3
15 wolfram syndrome 9.9 WFS1 TMEM126A OPA3
16 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
17 sensorineural hearing loss 9.9
18 neuropathy 9.9
19 auditory neuropathy spectrum disorder 9.9
20 autosomal recessive isolated optic atrophy 9.9 YME1L1 TMEM126A
21 leber hereditary optic neuropathy, modifier of 9.8 WFS1 TMEM126A OPA3
22 spastic ataxia 5 9.8 YME1L1 OMA1
23 spinocerebellar ataxia 28 9.6 YME1L1 OMA1
24 cranial nerve disease 9.4 YME1L1 WFS1 OPA3 OMA1
25 optic atrophy 4 9.2 YME1L1 WFS1 TMEM126A OPA3 OMA1
26 optic atrophy 5 9.2 YME1L1 WFS1 TMEM126A OPA3 OMA1

Graphical network of the top 20 diseases related to Optic Atrophy 8:



Diseases related to Optic Atrophy 8

Symptoms & Phenotypes for Optic Atrophy 8

Human phenotypes related to Optic Atrophy 8:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 mitral regurgitation 31 occasional (7.5%) HP:0001653
2 mitral valve prolapse 31 very rare (1%) HP:0001634
3 abnormal auditory evoked potentials 31 very rare (1%) HP:0006958
4 central scotoma 31 very rare (1%) HP:0000603
5 sensorineural hearing impairment 31 HP:0000407
6 optic atrophy 31 HP:0000648
7 visual loss 31 HP:0000572
8 prolonged somatosensory evoked potentials 31 HP:0007104
9 abnormality of pattern visual evoked potentials 31 HP:0030455

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
optic atrophy
visual loss
central scotoma
diffuse reduction in retinal nerve fiber layer
abnormal pattern visual evoked potentials

Cardiovascular Heart:
mitral valve prolapse (in some patients)
mitral valve insufficiency (in some patients)

Neurologic Central Nervous System:
increased conduction time of somatosensory evoked potentials (in some patients)

Head And Neck Ears:
hearing loss, sensorineural (in some patients)
abnormal brainstem auditory evoked potentials (in some patients)

Muscle Soft Tissue:
subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy
mildly increased mtdna

Laboratory Abnormalities:
fibroblasts show some mitochondrial abnormalities, such as increased mitochondrial fusion

Clinical features from OMIM®:

616648 (Updated 05-Apr-2021)

Drugs & Therapeutics for Optic Atrophy 8

Search Clinical Trials , NIH Clinical Center for Optic Atrophy 8

Genetic Tests for Optic Atrophy 8

Genetic tests related to Optic Atrophy 8:

# Genetic test Affiliating Genes
1 Optic Atrophy 8 29

Anatomical Context for Optic Atrophy 8

MalaCards organs/tissues related to Optic Atrophy 8:

40
Skeletal Muscle

Publications for Optic Atrophy 8

Articles related to Optic Atrophy 8:

# Title Authors PMID Year
1
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16. 57 61
21349918 2011
2
Hearing Dysfunction in a Large Family Affected by Dominant Optic Atrophy (OPA8-Related DOA): A Human Model of Hidden Auditory Neuropathy. 61
31191217 2019
3
Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree. 61
26400325 2015
4
Dominant optic atrophy. 61
22776096 2012
5
[Cause of blindness in Bavaria. Evaluation of a representative sample from blindness compensation records of Upper Bavaria]. 61
1578867 1992

Variations for Optic Atrophy 8

Expression for Optic Atrophy 8

Search GEO for disease gene expression data for Optic Atrophy 8.

Pathways for Optic Atrophy 8

GO Terms for Optic Atrophy 8

Cellular components related to Optic Atrophy 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.13 YME1L1 TMEM126A OMA1
2 mitochondrion GO:0005739 9.02 YME1L1 TMEM126A OPA3 OMA1 CYB5B

Biological processes related to Optic Atrophy 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein quality control for misfolded or incompletely synthesized proteins GO:0006515 8.96 YME1L1 OMA1
2 mitochondrial protein processing GO:0034982 8.62 YME1L1 OMA1

Molecular functions related to Optic Atrophy 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase binding GO:0051117 8.62 WFS1 NKD2

Sources for Optic Atrophy 8

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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