OPA4
MCID: OPT059
MIFTS: 15

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 57 72
Optic Atrophy-4 13
Opa4 57

Classifications:



External Ids:

UMLS 72 C1854430

Summaries for Optic Atrophy 4

MalaCards based summary : Optic Atrophy 4, also known as optic atrophy-4, is related to 3-methylglutaconic aciduria, type iii. An important gene associated with Optic Atrophy 4 is OPA4 (Optic Atrophy 4 (Autosomal Dominant)). Affiliated tissues include neutrophil.

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 Autosomal Dominant Optic Atrophy Plus Syndrome

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

# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 11.3

Symptoms & Phenotypes for Optic Atrophy 4

Clinical features from OMIM:

605293

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:

41
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. 8
11017079 2000
2
Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3. 8
10369594 1999
3
Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity. 8
9429135 1997
4
Linkage analysis in dominant optic atrophy. 8
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. 38
31329353 2019
6
Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree. 38
26400325 2015
7
Long-term visual outcomes in patients with orbitotemporal neurofibromatosis. 38
23926960 2014
8
First cases of dominant optic atrophy in Saudi Arabia: report of two novel OPA1 mutations. 38
24051421 2013
9
Dominant optic atrophy. 38
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. 38
22290463 2012
11
Variation in Salmonella enteritidis RAPD-PCR patterns may not be due to genetic differences. 38
22312982 2011
12
[Clinical features and carotid artery color Doppler imaging in patients with ocular ischemic syndrome]. 38
21609624 2011
13
High annealing temperature-random amplified polymorphic DNA (HAT-RAPD) analysis of three paramphistome flukes from Thailand. 38
16889772 2007
14
[Genetic basis of hereditary optic atrophies]. 38
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. 38
16698014 2006
16
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. 38
16648378 2006
17
[Genetic polymorphism of Malassezia spp. yeast isolates from individuals with and without dermatological lesions]. 38
16433174 2005
18
Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. 38
16158427 2005
19
Molecular genetic basis of primary inherited optic neuropathies. 38
15534598 2004
20
Role of intravitreal methotrexate in the management of primary central nervous system lymphoma with ocular involvement. 38
12208721 2002
21
[Bilateral amaurosis in 11 patients with giant cell arteritis confirmed by arterial biopsy]. 38
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. 38
11785892 2001
23
[Diagnostic and differential diagnostic potential of mitochondrial DNA assessment in patients with Leber's hereditary optic neuropathy]. 38
11864415 2001
24
Diagnostic potential of mitochondrial DNA assessment in patients with optic neuropathy. 38
11776061 2000
25
Characterization of Botrytis cinerea from Table Grapes in Chile Using RAPD-PCR. 38
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. 38
1383727 1992
27
Anaerobic growth of gonococci does not alter their Opa-mediated interactions with human neutrophils. 38
1563766 1992
28
[Cronassial in the treatment of neuropathies and atrophy of the optic nerve]. 38
1640682 1992
29
Neuroophthalmological symptoms in children treated for internal hydrocephalus. 38
1840820 1991
30
Bilateral optic nerve meningioma. Case report. 38
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

GO Terms for Optic Atrophy 4

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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