OPA4
MCID: OPT059
MIFTS: 29

Optic Atrophy 4 (OPA4)

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

Aliases & Classifications for Optic Atrophy 4

MalaCards integrated aliases for Optic Atrophy 4:

Name: Optic Atrophy 4 56 12 15 71
Opa4 56 12
Optic Atrophy-4 13

Classifications:



External Ids:

Disease Ontology 12 DOID:0111440
OMIM 56 605293
OMIM Phenotypic Series 56 PS165500
UMLS 71 C1854430

Summaries for Optic Atrophy 4

Disease Ontology : 12 An optic atrophy that has material basis in heterozygous mutation in a region on chromosome 18q12.2-q12.3.

MalaCards based summary : Optic Atrophy 4, also known as opa4, is related to 3-methylglutaconic aciduria, type iii and neuropathy, hereditary motor and sensory, type via, with optic atrophy. An important gene associated with Optic Atrophy 4 is OPA4 (Optic Atrophy 4 (Autosomal Dominant)), and among its related pathways/superpathways is Glucose / Energy Metabolism. Affiliated tissues include neutrophil, and related phenotypes are adipose tissue and homeostasis/metabolism

More information from OMIM: 605293 PS165500

Related Diseases for Optic Atrophy 4

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

Diseases related to Optic Atrophy 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 27.5 WFS1 TMEM126A SNCA OPA4 OPA3 OPA1
2 neuropathy, hereditary motor and sensory, type via, with optic atrophy 10.2 TMEM126A OPA3
3 nutritional optic neuropathy 10.2 OPA3 MT-ND4
4 optic atrophy 2 10.0 TMEM126A OPA3 CRYZL1
5 optic atrophy 3, autosomal dominant 10.0 TMEM126A OPA3 CRYZL1
6 ocular motility disease 10.0 MT-ND4 CRYZL1
7 combined oxidative phosphorylation deficiency 7 9.9 SNCA MT-ND4
8 behr syndrome 9.9 TMEM126A OPA3 OPA1
9 chromosomal duplication syndrome 9.9 SNCA APPL1
10 wolfram syndrome 9.8 WFS1 TMEM126A MT-ND4
11 drug-induced hearing loss 9.8 MT-ND6 MT-ND4
12 leber optic atrophy and dystonia 9.8 MT-ND6 MT-ND4
13 pearson marrow-pancreas syndrome 9.8 MT-ND6 MT-ND4
14 neuropathy, ataxia, and retinitis pigmentosa 9.7 MT-ND6 MT-ND4
15 hereditary optic neuropathy 9.7 MT-ND6 MT-ND4
16 familial adult myoclonic epilepsy 9.7 SNCA APPL1
17 tritanopia 9.7 TMEM126A OPA3 MT-ND4 CRYZL1
18 deafness, aminoglycoside-induced 9.7 MT-ND6 MT-ND4
19 optic atrophy 1 9.7 OPA1 OMA1
20 cortical blindness 9.7 MT-ND6 MT-ND4
21 chronic progressive external ophthalmoplegia 9.6 MT-ND6 MT-ND4
22 kearns-sayre syndrome 9.5 OPA3 MT-ND6 MT-ND4
23 mitochondrial encephalomyopathy 9.4 OPA1 MT-ND6 MT-ND4
24 toxic optic neuropathy 9.4 TMEM126A OPA3 MT-ND6 MT-ND4
25 optic neuritis 9.3 MT-ND6 MT-ND4
26 mitochondrial complex i deficiency, nuclear type 1 9.2 SNCA MT-ND6 MT-ND4
27 mitochondrial metabolism disease 9.2 OPA3 OPA1 MT-ND6 MT-ND4
28 optic atrophy 6 9.1 TMEM126A OPA3 MT-ND6 MT-ND4 CRYZL1
29 optic atrophy 7 with or without auditory neuropathy 9.0 WFS1 TMEM126A OPA3 MT-ND6 CRYZL1
30 scotoma 9.0 TMEM126A OPA3 OPA1 MT-ND6 MT-ND4
31 optic atrophy 8 9.0 WFS1 TMEM126A OPA3 OMA1 MT-ND4 CRYZL1
32 leber plus disease 8.7 WFS1 SNCA OPA3 MT-ND6 MT-ND4
33 cranial nerve disease 8.5 WFS1 OPA3 OPA1 OMA1 MT-ND6 MT-ND4
34 peripheral nervous system disease 8.4 WFS1 SNCA OPA3 OPA1 MT-ND6 MT-ND4
35 leber optic atrophy 8.2 WFS1 TMEM126A SNCA OPA3 OPA1 MT-ND6
36 optic atrophy 5 8.1 WFS1 TMEM126A OPA3 OPA1 MT-ND6 MT-ND4
37 optic nerve disease 7.8 WFS1 TMEM126A SNCA OPA3 OPA1 OMA1

Graphical network of the top 20 diseases related to Optic Atrophy 4:



Diseases related to Optic Atrophy 4

Symptoms & Phenotypes for Optic Atrophy 4

Clinical features from OMIM:

605293

MGI Mouse Phenotypes related to Optic Atrophy 4:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.35 APPL1 MT-ND6 OMA1 OPA1 OPA3
2 homeostasis/metabolism MP:0005376 9.23 APPL1 MT-ND6 OMA1 OPA1 OPA3 SNCA

Drugs & Therapeutics for Optic Atrophy 4

Search Clinical Trials , NIH Clinical Center for Optic Atrophy 4

Genetic Tests for Optic Atrophy 4

Anatomical Context for Optic Atrophy 4

MalaCards organs/tissues related to Optic Atrophy 4:

40
Neutrophil

Publications for Optic Atrophy 4

Articles related to Optic Atrophy 4:

(show all 30)
# Title Authors PMID Year
1
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. 56
11017079 2000
2
Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3. 56
10369594 1999
3
Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity. 56
9429135 1997
4
Linkage analysis in dominant optic atrophy. 56
6580816 1983
5
SCAR marker for Phytophthora nicotianae and a multiplex PCR assay for simultaneous detection of P. nicotianae and Candidatus Liberibacter asiaticus in citrus. 61
31329353 2019
6
Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree. 61
26400325 2015
7
Long-term visual outcomes in patients with orbitotemporal neurofibromatosis. 61
23926960 2014
8
First cases of dominant optic atrophy in Saudi Arabia: report of two novel OPA1 mutations. 61
24051421 2013
9
Dominant optic atrophy. 61
22776096 2012
10
Food assimilated by two sympatric populations of the brown planthopper Nilaparvata lugens (Delphacidae) feeding on different host plants contaminates insect DNA detected by RAPD-PCR analysis. 61
22290463 2012
11
Variation in Salmonella enteritidis RAPD-PCR patterns may not be due to genetic differences. 61
22312982 2011
12
[Clinical features and carotid artery color Doppler imaging in patients with ocular ischemic syndrome]. 61
21609624 2011
13
High annealing temperature-random amplified polymorphic DNA (HAT-RAPD) analysis of three paramphistome flukes from Thailand. 61
16889772 2007
14
[Genetic basis of hereditary optic atrophies]. 61
18488399 2007
15
Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy. 61
16698014 2006
16
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. 61
16648378 2006
17
[Genetic polymorphism of Malassezia spp. yeast isolates from individuals with and without dermatological lesions]. 61
16433174 2005
18
Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. 61
16158427 2005
19
Molecular genetic basis of primary inherited optic neuropathies. 61
15534598 2004
20
Role of intravitreal methotrexate in the management of primary central nervous system lymphoma with ocular involvement. 61
12208721 2002
21
[Bilateral amaurosis in 11 patients with giant cell arteritis confirmed by arterial biopsy]. 61
11706381 2001
22
Determination of close genetic relatedness of the major Salmonella enteritidis phage types by pulsed-field gel electrophoresis and DNA sequence analysis of several Salmonella virulence genes. 61
11785892 2001
23
[Diagnostic and differential diagnostic potential of mitochondrial DNA assessment in patients with Leber's hereditary optic neuropathy]. 61
11864415 2001
24
Diagnostic potential of mitochondrial DNA assessment in patients with optic neuropathy. 61
11776061 2000
25
Characterization of Botrytis cinerea from Table Grapes in Chile Using RAPD-PCR. 61
30841128 1999
26
The load of genetic and partially genetic disease in man. IV. Severe visual handicaps and profound childhood deafness in Hungarian school-age children. 61
1383727 1992
27
Anaerobic growth of gonococci does not alter their Opa-mediated interactions with human neutrophils. 61
1563766 1992
28
[Cronassial in the treatment of neuropathies and atrophy of the optic nerve]. 61
1640682 1992
29
Neuroophthalmological symptoms in children treated for internal hydrocephalus. 61
1840820 1991
30
Bilateral optic nerve meningioma. Case report. 61
7094953 1982

Variations for Optic Atrophy 4

Expression for Optic Atrophy 4

Search GEO for disease gene expression data for Optic Atrophy 4.

Pathways for Optic Atrophy 4

Pathways related to Optic Atrophy 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.29 WFS1 OPA1 OMA1

GO Terms for Optic Atrophy 4

Cellular components related to Optic Atrophy 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.7 TMEM126A SNCA OPA3 OPA1 OMA1 MT-ND6
2 respiratory chain GO:0070469 9.26 MT-ND6 MT-ND4
3 mitochondrial membrane GO:0031966 9.26 OPA1 OMA1 MT-ND6 MT-ND4
4 mitochondrial inner membrane GO:0005743 9.1 TMEM126A SNCA OPA1 OMA1 MT-ND6 MT-ND4

Biological processes related to Optic Atrophy 4 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.78 SNCA MT-ND6 MT-ND4 CRYZL1
2 visual perception GO:0007601 9.58 WFS1 OPA3 OPA1
3 aging GO:0007568 9.5 SNCA OPA1 MT-ND4
4 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.49 MT-ND6 MT-ND4
5 response to cocaine GO:0042220 9.46 SNCA MT-ND6
6 response to nicotine GO:0035094 9.43 MT-ND6 MT-ND4
7 calcium ion homeostasis GO:0055074 9.37 WFS1 SNCA
8 mitochondrion morphogenesis GO:0070584 9.26 OPA3 OPA1
9 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.16 WFS1 OPA1
10 protein complex oligomerization GO:0051259 8.96 SNCA OPA1
11 mitochondrial respiratory chain complex I assembly GO:0032981 8.8 TMEM126A MT-ND6 MT-ND4

Molecular functions related to Optic Atrophy 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.96 MT-ND6 MT-ND4
2 beta-tubulin binding GO:0048487 8.62 SNCA APPL1

Sources for Optic Atrophy 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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