MCID: OPT004
MIFTS: 41

Optic Atrophy malady

Summaries for Optic Atrophy

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33MalaCards
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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. Related mouse phenotype behavior/neurological.

Aliases & Classifications for Optic Atrophy

Sources:
8Disease Ontology, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 27ICD9CM
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Aliases & Descriptions:

optic atrophy 8 61
optic atrophy, unspecified 8
unspecified optic atrophy 8
atrophy of optic disc 8
optic atrophy nos 8


External Ids:

Disease Ontology8 DOID:5723
NCIt40 C34863
MeSH35 D009896
ICD9CM27 377.1, 377.10

Related Diseases for Optic Atrophy

Sources:
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
optic atrophy 3 with cataract

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

(show top 50)    (show all 344)
idRelated DiseaseScoreTop Affiliating Genes
1optic atrophy type 131.1MFN2, OPA1
2wolfram syndrome31.0WFS1, BAMBI
3opa3-related 3-methylglutaconic aciduria30.8OPA3
4sensorineural hearing loss30.5PRPS1, WFS1
5spinocerebellar ataxia30.2ATXN2
6dominant optic atrophy11.0
7primary optic atrophy10.7
8diabetes insipidus10.6
9peho syndrome10.6
10leber hereditary optic neuropathy10.5
11ataxia10.5
12n syndrome10.5
13gapo syndrome10.4
14mental retardation10.4
15glaucomatous atrophy of optic disc10.4
16behr syndrome10.4
17autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy10.3
18autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy10.3
19optic atrophy 210.3
20optic atrophy and cataract, autosomal dominant10.3
21optic atrophy 610.3
22early-onset x-linked optic atrophy10.3
23arts syndrome10.3
24microcephaly10.3
25micro syndrome10.3
26cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss10.3
27x-linked charcot-marie-tooth disease type 510.3
28optic atrophy type 710.3
29spastic paraplegia, optic atrophy, and neuropathy10.3
30partial optic atrophy10.2
31berk-tabatznik syndrome10.2
32optic atrophy 1 and deafness10.2
33optic atrophy 510.2
34short stature with optic atrophy and pelger-huët anomaly syndrome10.2
35optic atrophy 3 with cataract10.2
36blindness10.2
37autosomal recessive optic atrophy, opa6 type10.2
38leber congenital amaurosis10.2
39tabes dorsalis10.2
40alopecia10.2
41thalassemia10.2
42leber hereditary optic neuropathy with dystonia10.2
43spinocerebellar atrophy10.2
44short stature10.2
45wolfram-like syndrome, autosomal dominant10.2
46optic atrophy 2, x-linked10.2
47axonal neuropathy10.1
48foster-kennedy syndrome10.1
49skin atrophy10.1
50acrodermatitis10.1

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



Diseases related to optic atrophy

Clinical Features for Optic Atrophy

Drugs & Therapeutics for Optic Atrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Optic Atrophy

Drug clinical trials:

Search ClinicalTrials for Optic Atrophy

Search NIH Clinical Center for Optic Atrophy

Search CenterWatch for Optic Atrophy

Genetic Tests for Optic Atrophy

Anatomical Context for Optic Atrophy

Animal Models for Optic Atrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Optic Atrophy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538610.4SPG7, BTD, BAMBI, WFS1, ATXN2, OPA3

Publications for Optic Atrophy

Sources:
51PubMed
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Articles related to Optic Atrophy:

(show top 50)    (show all 580)
idTitleAuthorsYear
1
SDOCT thickness measurements of various retinal layers in patients with autosomal dominant optic atrophy due to OPA1 mutations. (24024178)
2013
2
Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy]. (23351689)
2013
3
Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations. (21378995)
2011
4
Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy. (21457585)
2011
5
Foster Kennedy syndrome: papilledema in one eye with optic atrophy in the other eye. (21948724)
2011
6
Optic atrophy 1 is an A-kinase anchoring protein on lipid droplets that mediates adrenergic control of lipolysis. (21983901)
2011
7
Early pericalcarine atrophy in acute optic neuritis is associated with conversion to multiple sclerosis. (21297149)
2011
8
Measurement of retinal nerve fiber layer thickness in optic atrophy eyes of patients with optic neuritis using optical coherence tomography. (20191363)
2010
9
Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy. (19181907)
2009
10
Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes. (19344448)
2009
11
Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study. (18566338)
2008
12
Extra-medullary hematopoiesis causing bilateral optic atrophy in beta thalassemia/Hb E disease. (17487139)
2007
13
Cystoid macular edema in gyrate atrophy of the choroid and retina: a fluorescein angiography and optical coherence tomography evaluation. (16038665)
2005
14
Characteristic retinal atrophy with secondary "inverse" optic atrophy identifies vigabatrin toxicity in children. (15465561)
2004
15
Familial optic atrophy with white matter changes. (12923868)
2003
16
The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene. (14644237)
2003
17
A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy. (12566046)
2003
18
Improved visual acuity in an eye with glaucomatous optic atrophy following loss of the good eye. (11027019)
2000
19
Bilateral optic atrophy following diabetic ketoacidosis. (10872541)
2000
20
Optic atrophy in association with cobalamin C (cblC) disease. (11035547)
2000
21
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. (11017079)
2000
22
Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome? (10465117)
1999
23
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram Syndrome). (9771706)
1998
24
Detection of visual dysfunction in optic atrophy by functional magnetic resonance imaging during monocular visual stimulation. (8794713)
1996
25
Flash and pattern electroretinogram changes with optic atrophy and glaucoma. (7641852)
1995
26
Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome. (8249951)
1993
27
BAEP changes in Leber's hereditary optic atrophy: further confirmation of multisystem involvement. (2360403)
1990
28
Optic atrophy in primary oxalosis. (3394775)
1988
29
Optic atrophy, diabetes mellitus and diabetes insipidus. (3723871)
1986
30
Anterior optic nerve blood flow decreases in clinical neurogenic optic atrophy. (3526230)
1986
31
Methyl bromide optic atrophy. (2990215)
1985
32
Oscillatory potentials of the electroretinogram in patients with unilateral optic atrophy. (4034164)
1985
33
Probable autosomal dominant optic atrophy with hearing loss. (4058876)
1985
34
Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome. (6493699)
1984
35
Narrowing of the retinal arterioles in descending optic atrophy. A quantitative clinical study. (6514300)
1984
36
Progressive optic atrophy and sensorineural hearing loss due to chronic glue sniffing. (6644323)
1983
37
Optic atrophy in metabolic diseases. (6681120)
1983
38
Human pattern-evoked retinal responses are altered by optic atrophy. (7076425)
1982
39
Dapsone-induced optic atrophy and motor neuropathy. (6788309)
1981
40
Optic atrophy in experimental vitamin B12 deficiency in monkeys. (6771960)
1980
41
BehAset's disease: an unusual case with bilateral obliterating retinal panarteritis and ischemic optic atrophy. (7443198)
1980
42
A clinicopathologic study of autosomal dominant optic atrophy. (315716)
1979
43
The syndrome of juvenile diabetes mellitus, diabetes insipidus, deafness, optic atrophy and hypothalmic dysfunction (a case report). (437863)
1979
44
Hereditary optic atrophy with probable association with a specific HLA haplotype. (151734)
1978
45
Optic atrophy in the bobble-head doll syndrome. (303696)
1977
46
Further studies supporting the identity of congenital tritanopia and hereditary dominant optic atrophy. (5314165)
1971
47
The frequency of syphilitic primary optic atrophy in dementia paralytica; a clinico-anatomic study. (18864981)
1948
48
Surgical treatment of syphilitic primary atrophy of the optic nerves (syphilitic optochiasmatic arachnoiditis) a clinicoanatomic study. (18919403)
1947
49
Primary optic atrophy in a tabetic African. (21016221)
1945
50
Syphilis Meningo-vascularis, Congenital Syphilis, Choroiditis, Optic Atrophy, Herpes Zoster, Multiple Root Lesions. (19978797)
1915

Genetic Variations for Optic Atrophy

Expression for genes affiliated with Optic Atrophy

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

Search GEO for disease gene expression data for Optic Atrophy.

Pathways for genes affiliated with Optic Atrophy

Compounds for genes affiliated with Optic Atrophy

Sources:
45Novoseek, 24HMDB
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Compounds related to Optic Atrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tungsten45 2411.4BAMBI, WFS1

GO Terms for genes affiliated with Optic Atrophy

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet