MCID: OPT004
MIFTS: 50

Optic Atrophy malady

Genetic diseases, Eye diseases, Neuronal diseases, Rare diseases, Ear diseases categories

Summaries for Optic Atrophy

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34MalaCards
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MalaCards: Optic Atrophy, also known as optic atrophy, unspecified, is related to optic atrophy type 1 and leber hereditary optic neuropathy. An important gene associated with Optic Atrophy is OPA1 (optic atrophy 1 (autosomal dominant)), and among its related pathways is Parkinsons Disease Pathway. Affiliated tissues include eye, brain and skin, and related mouse phenotypes are adipose tissue and cardiovascular system.

Aliases & Classifications for Optic Atrophy

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9Disease Ontology, 63UMLS, 28ICD9CM, 59SNOMED-CT, 41NCIt, 36MeSH
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Classifications:



Aliases & Descriptions:

optic atrophy 9 63
optic atrophy, unspecified 9
unspecified optic atrophy 9
atrophy of optic disc 9
optic atrophy nos 9


External Ids:

Disease Ontology9 DOID:5723
ICD9CM28 377.10, 377.1
NCIt41 C34863
MeSH36 D009896

Related Diseases for Optic Atrophy

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18GeneCards, 19GeneDecks
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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 5 Optic Atrophy 6
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 375)
idRelated DiseaseScoreTop Affiliating Genes
1optic atrophy type 131.2OPA1, MFN2
2leber hereditary optic neuropathy30.8OPA3, OPA1
3opa3-related 3-methylglutaconic aciduria30.7OPA3, SPG7, MFN2, TMEM126A, WFS1, OPA1
4charcot-marie-tooth disease30.2MFN2, OPA1
5dominant optic atrophy11.0
6diabetes mellitus10.7
7neuropathy10.7
8primary optic atrophy10.7
9wolfram syndrome10.7
10retinitis10.6
11diabetes insipidus10.6
12peho syndrome10.6
13ataxia10.5
14spasticity10.5
15paraplegia10.4
16glaucoma10.4
17spastic paraplegia, optic atrophy, and neuropathy10.4
18dystonia10.4
19gapo syndrome10.4
20mental retardation10.4
21glaucomatous atrophy of optic disc10.4
22choroiditis10.4
23arts syndrome10.4
24cataract10.4
25early-onset x-linked optic atrophy10.4
26sensorineural hearing loss10.3
27papilledema10.3
28peripheral neuropathy10.3
29autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy10.3
30autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy10.3
31optic atrophy type 710.3
32bosch-boonstra-schaaf optic atrophy syndrome10.3
33microcephaly10.3
34behr syndrome10.3
35cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss10.3
36optic atrophy 210.3
37optic atrophy 610.3
38optic atrophy and cataract, autosomal dominant10.3
39optic atrophy polyneuropathy deafness10.3
40optic atrophy 3 with cataract10.3
41autosomal recessive optic atrophy, opa6 type10.3
42ophthalmoplegia10.2
43optic atrophy 1 and deafness10.2
44optic atrophy 510.2
45short stature with optic atrophy and pelger-huët anomaly syndrome10.2
46blindness10.2
47cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss10.2
48partial optic atrophy10.2
49leber congenital amaurosis10.2
50alopecia10.2

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



Diseases related to optic atrophy

Symptoms for Optic Atrophy

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Drugs & Therapeutics for Optic Atrophy

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Optic Atrophy

Search CenterWatch for Optic Atrophy

Genetic Tests for Optic Atrophy

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Anatomical Context for Optic Atrophy

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34MalaCards
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MalaCards organs/tissues related to Optic Atrophy:

34
Eye, Brain, Skin, Testes, Cortex, Retina, Skeletal muscle, Lung, Endothelial

Animal Models for Optic Atrophy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Optic Atrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.9OPA3, OPA1, ATXN2
2MP:00053858.6OPA3, OPA1, UCHL1, MFN2
3MP:00053908.1OPA3, UCHL1, MFN2, SPG7
4MP:00053768.1ATXN2, MFN2, WFS1, OPA1, OPA3
5MP:00107687.7ATXN2, MFN2, WFS1, UCHL1, OPA1, OPA3
6MP:00036317.4SPG7, ATXN2, MFN2, UCHL1, OPA1, OPA3
7MP:00053867.0OPA3, SPG7, ATXN2, MFN2, WFS1, UCHL1
8MP:00053787.0SPG7, ATXN2, MFN2, WFS1, UCHL1, OPA1

Publications for Optic Atrophy

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53PubMed
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Articles related to Optic Atrophy:

(show top 50)    (show all 531)
idTitleAuthorsYear
1
SDOCT thickness measurements of various retinal layers in patients with autosomal dominant optic atrophy due to OPA1 mutations. (24024178)
2013
2
Imaging of the macula indicates early completion of structural deficit in autosomal-dominant optic atrophy. (24120325)
2013
3
Case study of sporadic mitochondrial disease with myotonic discharges and optic atrophy. (23349087)
2013
4
Dominant optic atrophy: novel OPA1 mutations and revised prevalence estimates. (23916084)
2013
5
Dominant optic atrophy. (22776096)
2012
6
OPA3--related autosomal dominant optic atrophy and cataract with ataxia and areflexia. (22797356)
2012
7
Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations. (21378995)
2011
8
Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN). (20339643)
2010
9
Mitochondrial disorder with OPA1 mutation lacking optic atrophy. (19303950)
2009
10
The relationship between diabetes mellitus and optic atrophy in children. (19046251)
2008
11
Microvascular diabetes complications in Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness [DIDMOAD]): an age- and duration-matched comparison with common type 1 diabetes. (17536072)
2007
12
Reduction of oscillatory potentials and photopic negative response in patients with autosomal dominant optic atrophy with OPA1 mutations. (17251483)
2007
13
Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. (16158427)
2005
14
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. (15342707)
2004
15
Familial optic atrophy with white matter changes. (12923868)
2003
16
Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease. (12161614)
2002
17
Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome. (12075493)
2002
18
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. (11440989)
2001
19
Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene. (10976639)
2000
20
Optic atrophy and chronic acquired polyneuropathy. (10098553)
1999
21
Partial Wolfram syndrome (DIDMOAD): two new patients in a family. Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. (10480791)
1999
22
Optic atrophy as the first symptom in Hallervorden-Spatz syndrome. (9579871)
1998
23
Growth retardation, alopecia, pseudoanodontia, and optic atrophy (GAPO syndrome) with congenital glaucoma. (9230846)
1997
24
Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q. (9039986)
1997
25
A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome. (9382106)
1997
26
Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy. (8708653)
1996
27
Detection of visual dysfunction in optic atrophy by functional magnetic resonance imaging during monocular visual stimulation. (8794713)
1996
28
Unilateral optic atrophy presumed secondary to schistosomiasis of the optic nerve. (8335885)
1993
29
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). (8383698)
1993
30
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome). (7609443)
1993
31
Bilateral striatal necrosis, dystonia and optic atrophy in two siblings. (1548491)
1992
32
Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD syndrome). A clinical study in two Sudanese families. (1872184)
1991
33
Optic atrophy. (1925945)
1991
34
Optic atrophy, hearing loss, and peripheral neuropathy. (2665489)
1989
35
Onchocerciasis and optic atrophy in the Savannah area of Ghana. (3451406)
1987
36
Coexistence of diabetes mellitus, optic atrophy, and sensorineural deafness: case report. (3717843)
1986
37
Optic atrophy, diabetes mellitus and diabetes insipidus. (3723871)
1986
38
Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature. (6507471)
1984
39
Creutzfeldt-Jakob disease: a case with extensive white matter degeneration and optic atrophy. (6191005)
1983
40
Progressive optic atrophy and sensorineural hearing loss due to chronic glue sniffing. (6644323)
1983
41
Visual evoked response in optic atrophy. (7166411)
1982
42
Thiosulphate-sulphur transferase (rhodanese) deficiency in Leber's hereditary optic atrophy. (6117741)
1981
43
Dapsone-induced optic atrophy and motor neuropathy. (6788309)
1981
44
Dapsone-induced optic atrophy and motor neuropathy. (7427626)
1980
45
A clinicopathologic study of autosomal dominant optic atrophy. (315716)
1979
46
Retinal vascular changes in retrograde optic atrophy. (686119)
1978
47
Tabes dorsalis with special reference to primary optic atrophy. (13471961)
1957
48
Sarcoid; primary optic atrophy. (14837504)
1951
49
Penicillin treatment of syphilitic primary optic atrophy; an interim report. (18121296)
1949
50
Primary optic atrophy in von Recklinghausen's disease (multiple neurofibromatosis). (18149501)
1949

Variations for Optic Atrophy

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Expression for genes affiliated with Optic Atrophy

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2BioGPS, 16Gene 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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51PathCards, 39NCBI BioSystems Database
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Pathways related to Optic Atrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4UCHL1, ATXN2

Compounds for genes affiliated with Optic Atrophy

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GO Terms for genes affiliated with Optic Atrophy

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17Gene Ontology
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Cellular components related to Optic Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial outer membraneGO:0057419.5OPA1, MFN2
2mitochondrionGO:0057397.6OPA3, OPA1, TMEM126A, MFN2, SPG7

Biological processes related to Optic Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axon transport of mitochondrionGO:0198969.6OPA1, UCHL1
2mitochondrial fusionGO:0080539.4MFN2, OPA1
3mitochondrion organizationGO:0070059.3SPG7, OPA1
4neuromuscular processGO:0509059.2ATXN2, UCHL1, OPA3
5visual perceptionGO:0076019.0WFS1, OPA1, OPA3
6cell deathGO:0082198.1SPG7, ATXN2, MFN2, UCHL1

Products for genes affiliated with Optic Atrophy

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Sources for Optic Atrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet