MCID: OPT004
MIFTS: 46

Optic Atrophy malady

Eye diseases category

Summaries for Optic Atrophy

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MalaCards: Optic Atrophy, also known as optic atrophy, unspecified, is related to optic atrophy type 1 and wolfram syndrome. An important gene associated with Optic Atrophy is OPA1 (optic atrophy 1 (autosomal dominant)). The compound tungsten have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and testes, and related mouse phenotype behavior/neurological.

Aliases & Classifications for Optic Atrophy

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8Disease Ontology, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 27ICD9CM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases


Aliases & Descriptions:

optic atrophy 8 60
optic atrophy, unspecified 8
unspecified optic atrophy 8
atrophy of optic disc 8
optic atrophy nos 8


External Ids:

Disease Ontology8 DOID:5723
NCIt39 C34863
MeSH34 D009896
ICD9CM27 377.1, 377.10

Related Diseases for Optic Atrophy

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17GeneCards, 18GeneDecks
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Diseases in the Optic Atrophy Type 1 family:

Primary Optic Atrophy optic atrophy
Dominant Optic Atrophy Optic Atrophy 2
Optic Atrophy 6 Optic Atrophy 5
Optic Atrophy Type 7 Optic Atrophy-4

Diseases related to Optic Atrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 370)
idRelated DiseaseScoreTop Affiliating Genes
1optic atrophy type 131.1MFN2, OPA1
2wolfram syndrome31.0WFS1, BAMBI
3neuropathy31.0DMPK, MFN2
4opa3-related 3-methylglutaconic aciduria30.8OPA3
5paraplegia30.6SPG7
6sensorineural hearing loss30.4PRPS1, WFS1
7spinocerebellar ataxia30.2ATXN2
8charcot-marie-tooth disease30.1OPA1, MFN2
9diabetes mellitus10.7
10primary optic atrophy10.7
11retinitis10.6
12diabetes insipidus10.6
13leber hereditary optic neuropathy10.5
14dominant optic atrophy10.4
15glaucoma10.4
16glaucomatous atrophy of optic disc10.3
17choroiditis10.3
18arts syndrome10.3
19cataract10.3
20early-onset x-linked optic atrophy10.3
21hereditary sensory neuropathy10.3
22papilledema10.3
23peripheral neuropathy10.3
24autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy10.3
25autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy10.3
26gapo syndrome10.3
27optic atrophy and cataract, autosomal dominant10.3
28optic atrophy type 710.3
29microcephaly10.3
30behr syndrome10.3
31cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss10.3
32x-linked charcot-marie-tooth disease type 510.3
33optic atrophy 210.3
34optic atrophy 610.3
35spastic paraplegia, optic atrophy, and neuropathy10.3
36optic atrophy 3 with cataract10.3
37autosomal recessive optic atrophy, opa6 type10.3
38partial optic atrophy10.2
39cerebellar ataxia10.2
40ophthalmoplegia10.2
41peho syndrome10.2
42optic atrophy 1 and deafness10.2
43optic atrophy 510.2
44short stature with optic atrophy and pelger-huët anomaly syndrome10.2
45leber congenital amaurosis10.1
46tabes dorsalis10.1
47alopecia10.1
48hydrocephalus10.1
49methylmalonic acidemia10.1
50multiple sclerosis10.1

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



Diseases related to optic atrophy

Clinical Features for Optic Atrophy

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Drugs & Therapeutics for Optic Atrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Optic Atrophy

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Anatomical Context for Optic Atrophy

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32MalaCards
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MalaCards organs/tissues related to Optic Atrophy:

32
Eye, Brain, Testes, Skin, Retina, Lung, Skeletal muscle, Endothelial, Cortex

Animal Models for Optic Atrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Optic Atrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538610.4SPG7, BTD, BAMBI, WFS1, ATXN2, OPA3

Publications for Optic Atrophy

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50PubMed
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Articles related to Optic Atrophy:

(show top 50)    (show all 577)
idTitleAuthorsYear
1
Case study of sporadic mitochondrial disease with myotonic discharges and optic atrophy. (23349087)
2013
2
Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder. (23387428)
2013
3
Visual and psychological morbidity among patients with autosomal dominant optic atrophy. (23452392)
2013
4
Methanol toxicity presenting as haemorrhagic putaminal necrosis and optic atrophy. (23487819)
2013
5
Retinal nerve fiber layer thickness using spectral-domain optical coherence tomography in patients with no light perception secondary to optic atrophy. (23075807)
2013
6
Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families. (22197506)
2012
7
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. (22508347)
2012
8
Optic atrophy 1-dependent mitochondrial remodeling controls steroidogenesis in trophoblasts. (22658590)
2012
9
OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy. (20952381)
2011
10
Retinal atrophy correlates with fMRI response in patients with recovered optic neuritis. (21813786)
2011
11
Aqueductal stenosis with optic atrophy in case of malignant osteopetrosis. (22346242)
2011
12
Elevated intraocular pressure, optic nerve atrophy, and impaired retinal development in ODAG transgenic mice. (18791169)
2009
13
Blindness, optic atrophy and sinusitis in the horse. (19046266)
2008
14
Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy. (19112530)
2008
15
Reduction of oscillatory potentials and photopic negative response in patients with autosomal dominant optic atrophy with OPA1 mutations. (17251483)
2007
16
Optic atrophy after sildenafil use. (17321461)
2007
17
Visual-evoked response, pattern electroretinogram, and psychophysical magnocellular thresholds in glaucoma, optic atrophy, and dyslexia. (16840873)
2006
18
OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy. (16617242)
2006
19
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. (16240368)
2005
20
The aetiology of optic atrophy in Nigerians--a general hospital clinic study. (16033618)
2005
21
Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1. (15617556)
2005
22
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. (15342707)
2004
23
Optic nerve atrophy in propionic acidemia. (13129889)
2003
24
Primary optic atrophy and autosomal dominant osteopetrosis type II. (12240863)
2002
25
Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter. (10532406)
1998-1999
26
Optic atrophy induced by an intraorbital wooden foreign body: the role of CT and MRI. (9627883)
1998
27
Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY. (9745030)
1998
28
Mental retardation, iris coloboma, optic atrophy and distinctive facial appearance in two sibs. (9689994)
1998
29
Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q. (9039986)
1997
30
A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome. (9382106)
1997
31
Two cases of hereditary optic atrophy associated with an enzymatic defect of the respiratory chain. (11548782)
1996-1997
32
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome. (8733056)
1996
33
A syndrome of osteogenesis imperfecta, optic atrophy, retinopathy and severe developmental delay in two sibs of consanguineous parents. (7515752)
1994
34
A family with optic atrophy and congenital hearing loss. (7850273)
1994
35
Epilepsy and the electroencephalogram in progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (the PEHO syndrome). (8330584)
1993
36
Visual failure and optic atrophy associated with chlorambucil therapy. (8435605)
1993
37
Familial optic atrophy with negative electroretinograms. (1580840)
1992
38
Hereditary motor and sensory neuropathy (HMSN) and optic atrophy (HMSN type VI, Vizioli). (1647219)
1991
39
Recurrent papilloedema and early onset optic atrophy in BehAset's syndrome. (2383068)
1990
40
Coexistence of diabetes mellitus, optic atrophy, and sensorineural deafness: case report. (3717843)
1986
41
Dominant juvenile optic atrophy. (4058875)
1985
42
Differential diagnosis of congenital tritanopia and dominantly inherited juvenile optic atrophy. (3876823)
1985
43
Multiple endocrine neoplasia, type I. Association with marfanoid habitus, optic atrophy, and other abnormalities. (6139988)
1983
44
Optic atrophy induced by vincristine. (7099798)
1982
45
Psychophysical and visual evoked potential findings in hereditary optic atrophy. (297390)
1979
46
Creutzfeldt-Jakob disease and optic atrophy. (373455)
1979
47
The Foster Kennedy sign: a case with papilledema contralateral to a sphenoid wing meningioma but without apparent optic atrophy. (832573)
1977
48
Primary optic atrophy vs glaucomatous optic atrophy. (5566105)
1971
49
Association of juvenile diabetes mellitus, primary optic atrophy and perceptive hearing loss in three sibs, with additional idiopathic diabetes mellitus insipidus in one case. (5468975)
1970
50
Syphilitic primary optic atrophy as a cause of blindness; importance of early diagnosis. (18895276)
1948

Genetic Variations for Optic Atrophy

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Expression for genes affiliated with Optic Atrophy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Optic Atrophy

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Pathways for genes affiliated with Optic Atrophy

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Compounds for genes affiliated with Optic Atrophy

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44Novoseek, 24HMDB
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Compounds related to Optic Atrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tungsten44 2411.4BAMBI, WFS1

GO Terms for genes affiliated with Optic Atrophy

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16Gene Ontology
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Biological processes related to Optic Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial fusionGO:00805310.5OPA1, MFN2
2visual perceptionGO:00760110.5WFS1, OPA3, OPA1
3neuromuscular processGO:05090510.4ATXN2, OPA3
4mitochondrion organizationGO:00700510.2SPG7, OPA1

Products for genes affiliated with Optic Atrophy

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Sources for Optic Atrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet