DOA
MCID: DMN027
MIFTS: 38

Dominant Optic Atrophy (DOA) malady

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

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NIH Rare Diseases:42 Dominant optic atrophy (doa) is an inherited optic nerve disorder. it is usually diagnosed in early childhood due to mild, unexplained visual loss related to optic disc pallor or atrophy, and a family history of doa. affected individuals usually develop moderate visual loss and color vision defects. the severity varies; visual acuity can range from normal to legal blindness. about 20% of individuals with doa have non-ocular signs and symptoms such as sensorineural hearing loss; myopathy; peripheral neuropathy; multiple sclerosis-like illness; and spastic paraplegia (impaired function of the legs). in these individuals, the condition may be referred to as doa plus. doa is inherited in an autosomal dominant manner. mutations in 2 genes (opa1 and opa3) are known to cause doa, and the locations of 3 other genes (loci) have been identified (known as opa4, opa5, and opa8).opa1 causes the majority of cases. mutations in the opa3 gene are rare and are also associated with premature cataracts. there is currently no cure for doa, but individuals may benefit from low vision aids. last updated: 11/13/2013

MalaCards based summary: Dominant Optic Atrophy, also known as optic atrophy, autosomal dominant, is related to leber hereditary optic neuropathy and opa3-related 3-methylglutaconic aciduria. An important gene associated with Dominant Optic Atrophy is OPA3 (optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)), and among its related pathways is Effects of PIP2 hydrolysis. The compound dioctanoylglycol have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye.

Wikipedia:65 Dominant optic atrophy, or dominant optic atrophy, Kjer\'s type, is an autosomally inherited disease... more...

Aliases & Classifications for Dominant Optic Atrophy

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Dominant Optic Atrophy, Aliases & Descriptions:

Name: Dominant Optic Atrophy 42
Optic Atrophy, Autosomal Dominant 62
Autosomal Dominant Optic Atrophy 42
 
Doa+ 62
Doa 42


Classifications:



Related Diseases for Dominant Optic Atrophy

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



Diseases related to dominant optic atrophy

Symptoms for Dominant Optic Atrophy

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Drugs & Therapeutics for Dominant Optic Atrophy

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Drug clinical trials:

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Search NIH Clinical Center for Dominant Optic Atrophy

Genetic Tests for Dominant Optic Atrophy

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Anatomical Context for Dominant Optic Atrophy

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MalaCards organs/tissues related to Dominant Optic Atrophy:

32
Brain, Testes, Eye, Retina, Skeletal muscle

Animal Models for Dominant Optic Atrophy or affiliated genes

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Publications for Dominant Optic Atrophy

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Articles related to Dominant Optic Atrophy:

(show top 50)    (show all 142)
idTitleAuthorsYear
1
Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation. (24907432)
2014
2
SDOCT thickness measurements of various retinal layers in patients with autosomal dominant optic atrophy due to OPA1 mutations. (24024178)
2013
3
Imaging of the macula indicates early completion of structural deficit in autosomal-dominant optic atrophy. (24120325)
2013
4
Dominant optic atrophy: novel OPA1 mutations and revised prevalence estimates. (23916084)
2013
5
Non-image-forming light driven functions are preserved in a mouse model of autosomal dominant optic atrophy. (23409176)
2013
6
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. (23388408)
2013
7
High-resolution en face images of microcystic macular edema in patients with autosomal dominant optic atrophy. (24369534)
2013
8
Dominant optic atrophy. (22776096)
2012
9
OPA3--related autosomal dominant optic atrophy and cataract with ataxia and areflexia. (22797356)
2012
10
Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%. (22857269)
2012
11
A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy. (22382025)
2012
12
Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations. (21378995)
2011
13
OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy. (20952381)
2011
14
Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy. (21457585)
2011
15
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. (21538838)
2011
16
Axonal loss occurs early in dominant optic atrophy. (19302076)
2010
17
Electrophysiological and histologic assessment of retinal ganglion cell fate in a mouse model for OPA1-associated autosomal dominant optic atrophy. (19834041)
2010
18
Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy. (20546606)
2010
19
Novel mutations of the OPA1 gene in Chinese dominant optic atrophy. (19969356)
2010
20
Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy. (20157369)
2010
21
Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy. (18783614)
2008
22
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. (18065439)
2008
23
Reduction of oscillatory potentials and photopic negative response in patients with autosomal dominant optic atrophy with OPA1 mutations. (17251483)
2007
24
A novel mutation of the OPA1 gene responsible for isolated autosomal dominant optic atrophy in two brothers]. (17318099)
2007
25
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. (16648378)
2006
26
Dominant optic atrophy: correlation between clinical and molecular genetic studies. (15948788)
2005
27
A third locus for dominant optic atrophy on chromosome 22q. (15635063)
2005
28
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. (15342707)
2004
29
OPA1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retina. (15505078)
2004
30
Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease. (12161614)
2002
31
A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. (12036970)
2002
32
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. (11440989)
2001
33
Physical and transcript map of the dominant optic atrophy (OPA1) gene critical region at 3q28-q29. (11401435)
2001
34
MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy. (10772138)
2000
35
Association between autosomal dominant optic atrophy and Ewing sarcoma. (10598674)
1999
36
Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies. (9917792)
1999
37
Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter. (10532406)
1998-1999
38
Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q. (9039986)
1997
39
Dominant optic atrophy, Kjer type. Linkage analysis and clinical features in a large British pedigree. (9006433)
1997
40
Familial pars planitis and dominant optic atrophy. (9134550)
1997
41
Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig. (9003507)
1997
42
Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy. (8708653)
1996
43
No evidence of genetic heterogeneity in dominant optic atrophy. (8825922)
1995
44
Color vision in dominant optic atrophy. (1629378)
1992
45
Familial optic atrophy with sex-influenced severity. A new variety of autosomal-dominant optic atrophy? (3703478)
1986
46
Probable autosomal dominant optic atrophy with hearing loss. (4058876)
1985
47
Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome. (6493699)
1984
48
Linkage analysis in dominant optic atrophy. (6580816)
1983
49
Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy. (6880639)
1983
50
A clinicopathologic study of autosomal dominant optic atrophy. (315716)
1979

Variations for Dominant Optic Atrophy

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Expression for genes affiliated with Dominant Optic Atrophy

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Expression patterns in normal tissues for genes affiliated with Dominant Optic Atrophy

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Pathways for genes affiliated with Dominant Optic Atrophy

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Pathways related to Dominant Optic Atrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1DGKG, DGKQ

Compounds for genes affiliated with Dominant Optic Atrophy

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Compounds related to Dominant Optic Atrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dioctanoylglycol619.1DGKG, DGKQ

GO Terms for genes affiliated with Dominant Optic Atrophy

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Cellular components related to Dominant Optic Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dendriteGO:0304259.2OPA1, CALB1, WFS1

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

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:0076019.3OPA3, OPA1, WFS1
2protein kinase C-activating G-protein coupled receptor signaling pathwayGO:0072059.1DGKG, DGKQ

Molecular functions related to Dominant Optic Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1activating transcription factor bindingGO:0336139.3DGKQ, WFS1
2diacylglycerol kinase activityGO:0041439.0DGKG, DGKQ
3NAD+ kinase activityGO:0039518.8DGKG, DGKQ

Products for genes affiliated with Dominant Optic Atrophy

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Sources for Dominant 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