MCID: OPT004
MIFTS: 50

Optic Atrophy malady

Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases, Metabolic diseases categories
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Summaries for Optic Atrophy

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MalaCards based summary: Optic Atrophy, also known as unspecified optic atrophy, is related to optic atrophy type 1 and opa3-related 3-methylglutaconic aciduria. 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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Optic Atrophy, Aliases & Descriptions:

Name: Optic Atrophy 8 62
Unspecified Optic Atrophy 8 62
 
Atrophy of Optic Disc 8 62


Classifications:



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

Related Diseases for Optic Atrophy

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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 372)
idRelated DiseaseScoreTop Affiliating Genes
1optic atrophy type 131.7OPA1
2opa3-related 3-methylglutaconic aciduria31.1OPA1, MFN2
3leber hereditary optic neuropathy30.9OPA3, OPA1
4charcot-marie-tooth disease30.2MFN2, OPA1
5dominant optic atrophy11.1
6diabetes mellitus10.7
7neuropathy10.7
8primary optic atrophy10.7
9wolfram syndrome10.7
10retinitis10.7
11diabetes insipidus10.6
12peho syndrome10.6
13ataxia10.5
14spasticity10.5
15paraplegia10.5
16glaucomatous atrophy of optic disc10.5
17cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss10.4
18arts syndrome10.4
19dystonia10.4
20gapo syndrome10.4
21mental retardation10.4
22spastic paraplegia, optic atrophy, and neuropathy10.4
23cataract10.4
24choroiditis10.4
25sensorineural hearing loss10.3
26papilledema10.3
27peripheral neuropathy10.3
28autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy10.3
29autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy10.3
30optic atrophy type 710.3
31bosch-boonstra-schaaf optic atrophy syndrome10.3
32optic atrophy 3 with cataract10.3
33early-onset x-linked optic atrophy10.3
34microcephaly10.3
35behr syndrome10.3
36berk-tabatznik syndrome10.3
37optic atrophy 210.3
38optic atrophy 610.3
39optic atrophy and cataract, autosomal dominant10.3
40optic atrophy polyneuropathy deafness10.3
41autosomal recessive optic atrophy, opa6 type10.3
42multiple sclerosis10.3
43ophthalmoplegia10.3
44optic atrophy 1 and deafness10.3
45optic atrophy 510.3
46short stature with optic atrophy and pelger-huët anomaly syndrome10.3
47blindness10.3
48alopecia10.2
49hydrocephalus10.2
50thalassemia10.2

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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Drug clinical trials:

Search ClinicalTrials for Optic Atrophy

Search NIH Clinical Center for Optic Atrophy

Genetic Tests for Optic Atrophy

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Anatomical Context for Optic Atrophy

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MalaCards organs/tissues related to Optic Atrophy:

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

Animal Models for Optic Atrophy or affiliated genes

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MGI Mouse Phenotypes related to Optic Atrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.9ATXN2, OPA1, OPA3
2MP:00053858.6UCHL1, OPA3, OPA1, MFN2
3MP:00053908.1UCHL1, MFN2, SPG7, OPA3
4MP:00053768.1OPA3, ATXN2, MFN2, WFS1, OPA1
5MP:00107687.7OPA1, OPA3, UCHL1, WFS1, MFN2, ATXN2
6MP:00036317.4OPA3, OPA1, UCHL1, MFN2, ATXN2, SPG7
7MP:00053867.0UCHL1, WFS1, MFN2, ATXN2, SPG7, OPA3
8MP:00053787.0OPA3, OPA1, WFS1, MFN2, SPG7, ATXN2

Publications for Optic Atrophy

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Articles related to Optic Atrophy:

(show top 50)    (show all 556)
idTitleAuthorsYear
1
Erb's paraplegia with primary optic atrophy: Unusual presentation of neurosyphilis: Case report and review of literature. (25024583)
2014
2
Mutation Screening of Mitochondrial DNA as Well as OPA1 and OPA3 in a Chinese Cohort With Suspected Hereditary Optic Atrophy. (25205859)
2014
3
SDOCT thickness measurements of various retinal layers in patients with autosomal dominant optic atrophy due to OPA1 mutations. (24024178)
2013
4
Imaging of the macula indicates early completion of structural deficit in autosomal-dominant optic atrophy. (24120325)
2013
5
Case study of sporadic mitochondrial disease with myotonic discharges and optic atrophy. (23349087)
2013
6
Dominant optic atrophy: novel OPA1 mutations and revised prevalence estimates. (23916084)
2013
7
Dominant optic atrophy. (22776096)
2012
8
OPA3--related autosomal dominant optic atrophy and cataract with ataxia and areflexia. (22797356)
2012
9
Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations. (21378995)
2011
10
Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN). (20339643)
2010
11
Mitochondrial disorder with OPA1 mutation lacking optic atrophy. (19303950)
2009
12
The relationship between diabetes mellitus and optic atrophy in children. (19046251)
2008
13
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
14
Reduction of oscillatory potentials and photopic negative response in patients with autosomal dominant optic atrophy with OPA1 mutations. (17251483)
2007
15
Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. (16158427)
2005
16
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. (15342707)
2004
17
Familial optic atrophy with white matter changes. (12923868)
2003
18
Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease. (12161614)
2002
19
Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome. (12075493)
2002
20
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. (11440989)
2001
21
Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene. (10976639)
2000
22
Optic atrophy and chronic acquired polyneuropathy. (10098553)
1999
23
Partial Wolfram syndrome (DIDMOAD): two new patients in a family. Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. (10480791)
1999
24
Optic atrophy as the first symptom in Hallervorden-Spatz syndrome. (9579871)
1998
25
Growth retardation, alopecia, pseudoanodontia, and optic atrophy (GAPO syndrome) with congenital glaucoma. (9230846)
1997
26
Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q. (9039986)
1997
27
A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome. (9382106)
1997
28
Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy. (8708653)
1996
29
Detection of visual dysfunction in optic atrophy by functional magnetic resonance imaging during monocular visual stimulation. (8794713)
1996
30
Unilateral optic atrophy presumed secondary to schistosomiasis of the optic nerve. (8335885)
1993
31
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). (8383698)
1993
32
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome). (7609443)
1993
33
Bilateral striatal necrosis, dystonia and optic atrophy in two siblings. (1548491)
1992
34
Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD syndrome). A clinical study in two Sudanese families. (1872184)
1991
35
Optic atrophy. (1925945)
1991
36
Optic atrophy, hearing loss, and peripheral neuropathy. (2665489)
1989
37
Onchocerciasis and optic atrophy in the Savannah area of Ghana. (3451406)
1987
38
Coexistence of diabetes mellitus, optic atrophy, and sensorineural deafness: case report. (3717843)
1986
39
Optic atrophy, diabetes mellitus and diabetes insipidus. (3723871)
1986
40
Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature. (6507471)
1984
41
Creutzfeldt-Jakob disease: a case with extensive white matter degeneration and optic atrophy. (6191005)
1983
42
Progressive optic atrophy and sensorineural hearing loss due to chronic glue sniffing. (6644323)
1983
43
Visual evoked response in optic atrophy. (7166411)
1982
44
Thiosulphate-sulphur transferase (rhodanese) deficiency in Leber's hereditary optic atrophy. (6117741)
1981
45
Dapsone-induced optic atrophy and motor neuropathy. (7427626)
1980
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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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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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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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet