MCID: OPT053
MIFTS: 39

Optic Atrophy 1 malady

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

Aliases & Classifications for Optic Atrophy 1

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Sources:
45OMIM, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
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Optic Atrophy 1, Aliases & Descriptions:

Name: Optic Atrophy 1 45 10 41
Optic Atrophy Type 1 19 20 21 22
Autosomal Dominant Optic Atrophy, Classic Type 41 47
Autosomal Dominant Optic Atrophy, Kjer Type 41 47
Optic Atrophy, Autosomal Dominant 21 60
Optic Atrophy, Kjer Type 41 21
Optic Atrophy, Juvenile 41 21
Kjer Type Optic Atrophy 19 21
Kjer Disease 41 47
Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 60
Optic Atrophy, Hereditary, Autosomal Dominant 21
 
Autosomal Dominant Optic Atrophy Kjer Type 21
Optic Atrophy Autosomal Dominant 43
Autosomal Dominant Optic Atrophy 21
Kjer-Type Optic Atrophy 41
Dominant Optic Atrophy 21
Kjer's Optic Atrophy 21
Adoa 21
Opa1 41
Doa 21
Oak 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
autosomal dominant optic atrophy, classic type:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

OMIM45 165500
Orphanet47 98673
ICD10 via Orphanet26 H47.2

Summaries for Optic Atrophy 1

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OMIM:45 Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with... (165500) more...

MalaCards based summary: Optic Atrophy 1, also known as optic atrophy type 1, is related to optic atrophy plus syndrome and optic atrophy 3 with cataract, and has symptoms including progressive external ophthalmoplegia, proximal muscle weakness and ataxia. An important gene associated with Optic Atrophy 1 is OPA1 (optic atrophy 1 (autosomal dominant)). Affiliated tissues include eye and lung.

Genetics Home Reference:21 Optic atrophy type 1 is a condition that affects vision. Individuals with this condition have progressive vision loss that typically begins within the first decade of life. The severity of the vision loss varies widely among affected people, even among members of the same family. People with this condition can range from having nearly normal vision to complete blindness. The vision loss usually progresses slowly.

NIH Rare Diseases:41 Optic atrophy 1 is a condition that mainly affects vision, but may include other features. vision loss typically begins within the first decade of life; severity varies widely among affected people (from nearly normal vision to complete blindness), even among members of the same family. vision problems may include difficulty distinguishing colors, progressive narrowing of the field of vision (tunnel vision) and an abnormally pale appearance (pallor) of the optic nerve. additional, less common abnormalities may include sensorineural hearing loss, ataxia, myopathy (muscle disease) and other neurological findings. it is usually caused by mutations in the opa1 gene, although some individuals with optic atrophy 1 do not have identified mutations in this gene, in which case the cause of the condition is unknown. this condition is inherited in an autosomal dominant pattern but some cases result from a new mutation in the gene and occur in people with no history of the disorder in their family. treatment focuses on individual symptoms when possible. last updated: 12/22/2010

Wikipedia:63 Dynamin-like 120 kDa protein, mitochondrial is a protein that in humans is encoded by the OPA1 gene. more...

GeneReviews summary for opa

Related Diseases for Optic Atrophy 1

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Graphical network of the top 20 diseases related to Optic Atrophy 1:



Diseases related to optic atrophy 1

Symptoms for Optic Atrophy 1

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Symptoms by clinical synopsis from OMIM:

165500

Clinical features from OMIM:

165500

HPO human phenotypes related to Optic Atrophy 1:

(show all 15)
id Description Frequency HPO Source Accession
1 progressive external ophthalmoplegia 48% HP:0000590
2 proximal muscle weakness 37% HP:0003701
3 ataxia 31% HP:0001251
4 strabismus 10% HP:0000486
5 horizontal nystagmus rare (5%) HP:0000666
6 autosomal dominant inheritance HP:0000006
7 visual impairment HP:0000505
8 tritanomaly HP:0000552
9 centrocecal scotoma HP:0000576
10 central scotoma HP:0000603
11 red-green dyschromatopsia HP:0000642
12 optic atrophy HP:0000648
13 reduced amplitude of pattern visual evoked potentials HP:0000650
14 insidious onset HP:0003587
15 incomplete penetrance HP:0003829

Drugs & Therapeutics for Optic Atrophy 1

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Drug clinical trials:

Search ClinicalTrials for Optic Atrophy 1

Search NIH Clinical Center for Optic Atrophy 1

Genetic Tests for Optic Atrophy 1

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Genetic tests related to Optic Atrophy 1:

id Genetic test Affiliating Genes
1 Optic Atrophy Type 120 22 OPA1

Anatomical Context for Optic Atrophy 1

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MalaCards organs/tissues related to Optic Atrophy 1:

31
Eye, Lung

Animal Models for Optic Atrophy 1 or affiliated genes

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Publications for Optic Atrophy 1

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Articles related to Optic Atrophy 1:

idTitleAuthorsYear
1
Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy. (23401657)
2013
2
Optic atrophy 1 mediates mitochondria remodeling and dopaminergic neurodegeneration linked to complex I deficiency. (22858546)
2013
3
Overexpression of optic atrophy 1 protein increases cisplatin resistance via inactivation of caspase-dependent apoptosis in lung adenocarcinoma cells. (21798574)
2012
4
The mitochondrial inner membrane GTPase, optic atrophy 1 (Opa1), restores mitochondrial morphology and promotes neuronal survival following excitotoxicity. (21041314)
2011
5
Optic atrophy 1 is an A-kinase anchoring protein on lipid droplets that mediates adrenergic control of lipolysis. (21983901)
2011

Variations for Optic Atrophy 1

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UniProtKB/Swiss-Prot genetic disease variations for Optic Atrophy 1:

62 (show all 49)
id Symbol AA change Variation ID SNP ID
1OPA1p.Arg290GlnVAR_011483
2OPA1p.Gly300GluVAR_011484
3OPA1p.Arg445HisVAR_015741
4OPA1p.Leu396ArgVAR_022927
5OPA1p.Thr503LysVAR_022928
6OPA1p.Arg571HisVAR_022929
7OPA1p.Ser545ArgVAR_026533
8OPA1p.Leu939ProVAR_028370
9OPA1p.Ala8SerVAR_060825
10OPA1p.Tyr80CysVAR_060826rs151103940
11OPA1p.Thr95MetVAR_060827
12OPA1p.Tyr102CysVAR_060828
13OPA1p.Glu270LysVAR_060829
14OPA1p.Leu272ProVAR_060830
15OPA1p.Asp273AlaVAR_060831
16OPA1p.Arg290TrpVAR_060832
17OPA1p.Gln310ArgVAR_060834
18OPA1p.Ala357ThrVAR_060836rs190223702
19OPA1p.Ile382MetVAR_060837rs143319805
20OPA1p.Leu384PheVAR_060838
21OPA1p.Leu396ProVAR_060839
22OPA1p.Asn430AspVAR_060841
23OPA1p.Asp438ValVAR_060842
24OPA1p.Thr449ArgVAR_060843
25OPA1p.Lys468GluVAR_060845
26OPA1p.Asp470GlyVAR_060846
27OPA1p.Glu487LysVAR_060847
28OPA1p.Lys505AsnVAR_060848
29OPA1p.Cys551TyrVAR_060851
30OPA1p.Leu574ProVAR_060852
31OPA1p.Arg590GlnVAR_060854
32OPA1p.Arg590TrpVAR_060855
33OPA1p.Leu593ProVAR_060856
34OPA1p.Ser646LeuVAR_060857
35OPA1p.Asn728LysVAR_060859
36OPA1p.Gly768AspVAR_060860
37OPA1p.Arg781TrpVAR_060861rs190235251
38OPA1p.Gln785ArgVAR_060862
39OPA1p.Ser823TyrVAR_060863
40OPA1p.Tyr841CysVAR_060864
41OPA1p.Arg882LeuVAR_060865
42OPA1p.Leu887ProVAR_060866
43OPA1p.Arg932CysVAR_060868
44OPA1p.Leu949ProVAR_060869
45OPA1p.Pro400AlaVAR_067355
46OPA1p.Thr330SerVAR_072125
47OPA1p.Val377IleVAR_072126
48OPA1p.Gly439ValVAR_072127
49OPA1p.Gly459GluVAR_072129

Clinvar genetic disease variations for Optic Atrophy 1:

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1OPA1NM_015560.2(OPA1): c.1065+1G> Tsingle nucleotide variantPathogenicrs80356528GRCh37Chr 3, 193360635: 193360635
2OPA1NM_015560.2(OPA1): c.1294A> G (p.Ile432Val)single nucleotide variantPathogenicrs387906899GRCh37Chr 3, 193361398: 193361398
3OPA1NM_015560.2(OPA1): c.1316G> T (p.Gly439Val)single nucleotide variantPathogenicrs387906900GRCh37Chr 3, 193361767: 193361767
4OPA1NM_015560.2(OPA1): c.2729T> A (p.Val910Asp)single nucleotide variantPathogenicrs387906901GRCh37Chr 3, 193384980: 193384980
5OPA1NM_015560.2(OPA1): c.899G> A (p.Gly300Glu)single nucleotide variantPathogenicrs28939082GRCh37Chr 3, 193355769: 193355769
6OPA1OPA1, IVS9AS, G-A, -1single nucleotide variantPathogenic
7OPA1NM_015560.2(OPA1): c.2708_2711delTTAG (p.Val903Glyfs)deletionPathogenicrs80356530GRCh37Chr 3, 193384959: 193384962
8OPA1OPA1, 4-BP DEL, 2823AGTTdeletionPathogenic
9OPA1NM_015560.2(OPA1): c.869G> A (p.Arg290Gln)single nucleotide variantPathogenicrs121908375GRCh37Chr 3, 193355069: 193355069
10OPA1NM_015560.2(OPA1): c.1096C> T (p.Arg366Ter)single nucleotide variantPathogenicrs104893753GRCh37Chr 3, 193360794: 193360794
11OPA1OPA1, 3-BP DEL, 1296CATdeletionPathogenic
12OPA1NM_015560.2(OPA1): c.1146A> G (p.Ile382Met)single nucleotide variantPathogenicrs143319805GRCh37Chr 3, 193361167: 193361167
13OPA1OPA1, 1-BP DEL, 1354GdeletionPathogenic
14OPA1NM_015560.2(OPA1): c.2826delT (p.Arg943Glufs)deletionPathogenicrs80356531GRCh37Chr 3, 193409859: 193409859
15OPA1NM_015560.2(OPA1): c.1745A> G (p.Tyr582Cys)single nucleotide variantPathogenicrs121908376GRCh37Chr 3, 193365898: 193365898
16OPA1OPA1, 2-BP DEL, 2848GAdeletionPathogenic
17NM_130837.2(OPA1): c.740G> A (p.Arg247His)single nucleotide variantPathogenicrs138350727GRCh37Chr 3, 193343942: 193343942

Expression for genes affiliated with Optic Atrophy 1

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Search GEO for disease gene expression data for Optic Atrophy 1.

Pathways for genes affiliated with Optic Atrophy 1

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Compounds for genes affiliated with Optic Atrophy 1

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GO Terms for genes affiliated with Optic Atrophy 1

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Products for genes affiliated with Optic Atrophy 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Optic Atrophy 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet