MCID: OPT053
MIFTS: 46

Optic Atrophy 1 malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases, Ear diseases, Metabolic diseases

Aliases & Classifications for Optic Atrophy 1

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Aliases & Descriptions for Optic Atrophy 1:

Name: Optic Atrophy 1 52 48 70 12
Optic Atrophy Type 1 23 24 25
Optic Atrophy, Autosomal Dominant 25 68
Optic Atrophy, Kjer Type 48 25
Kjer-Type Optic Atrophy 48 70
Optic Atrophy, Juvenile 48 25
Kjer Type Optic Atrophy 24 25
Opa1 48 70
Oak 48 70
Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 68
 
Optic Atrophy, Hereditary, Autosomal Dominant 25
Autosomal Dominant Optic Atrophy Kjer Type 25
Autosomal Dominant Optic Atrophy 25
Optic Atrophy Autosomal Dominant 50
Optic Atrophy Kjer Type 70
Dominant Optic Atrophy 25
Optic Atrophy Juvenile 70
Kjer's Optic Atrophy 25
Adoa 25
Doa 25

Characteristics:

HPO:

64
optic atrophy 1:
Inheritance: autosomal dominant inheritance
Onset and clinical course: insidious onset, incomplete penetrance

GeneReviews:

23
Penetrance: the estimated penetrance of 98% in opa1 has been revised in the light of molecular genetic studies. penetrance varies from family to family and pathogenic variant to pathogenic variant. it has been reported as high as 100% (variant c.1065+1g>t, resulting in exon 12 skipping) [thiselton et al 2002] and as low as 43% (variant c.2708_2711delttag in exon 27) [toomes et al 2001]. in these two studies the clinical diagnosis was made on the basis of reduced visual acuity, abnormal color discrimination, fundus examination showing temporal pallor of the optic disc, and electrophysiology studies [toomes et al 2001, thiselton et al 2002]...


Classifications:



External Ids:

OMIM52 165500
MedGen37 C0338508
MeSH39 D029241

Summaries for Optic Atrophy 1

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OMIM:52 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 autosomal dominant optic atrophy plus syndrome and optic atrophy 1 and deafness, and has symptoms including progressive external ophthalmoplegia, proximal muscle weakness and ataxia. An important gene associated with Optic Atrophy 1 is OPA1 (OPA1, Mitochondrial Dynamin Like GTPase), and among its related pathways are Glucose / Energy Metabolism and Apoptosis and Autophagy. Affiliated tissues include retina, eye and bone, and related mouse phenotype behavior/neurological.

UniProtKB/Swiss-Prot:70 Optic atrophy 1: A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA1 is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disk pallor, color vision deficits, and centrocecal scotoma of variable density.

Genetics Home Reference:25 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:48 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:71 Dynamin-like 120 kDa protein, mitochondrial is a protein that in humans is encoded by the OPA1 gene.... more...

GeneReviews for NBK1248

Related Diseases for Optic Atrophy 1

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Graphical network of diseases related to Optic Atrophy 1:



Diseases related to optic atrophy 1

Symptoms & Phenotypes for Optic Atrophy 1

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Symptoms by clinical synopsis from OMIM:

165500

Clinical features from OMIM:

165500

Human phenotypes related to Optic Atrophy 1:

 64 (show all 13)
id Description HPO Frequency HPO Source Accession
1 progressive external ophthalmoplegia64 48% HP:0000590
2 proximal muscle weakness64 37% HP:0003701
3 ataxia64 31% HP:0001251
4 strabismus64 10% HP:0000486
5 horizontal nystagmus64 rare (5%) HP:0000666
6 visual impairment64 HP:0000505
7 tritanomaly64 HP:0000552
8 centrocecal scotoma64 HP:0000576
9 central scotoma64 HP:0000603
10 red-green dyschromatopsia64 HP:0000642
11 optic atrophy64 HP:0000648
12 abnormal amplitude of pattern reversal visual evoked potentials64 HP:0000650
13 reduced visual acuity64 HP:0007663

UMLS symptoms related to Optic Atrophy 1:


ophthalmoplegia

MGI Mouse Phenotypes related to Optic Atrophy 1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.1CYCS, DNM3, MFN2, OPA1

Drugs & Therapeutics for Optic Atrophy 1

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Drugs for Optic Atrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 169)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Pimecrolimusapproved, investigationalPhase 462137071-32-06447131, 17753757
Synonyms:
(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-3-((E)-2-((1R,3R,4S)-4-chloro-3-methoxycyclohexyl)-1-methylvinyl)-8-ethyl-5,6,8,11,12,13,14,15,16,17,18,19,24,26,26a-hexadecahydro-5,19-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclotricosine-1,17,20,21(4H,23H)-tetrone
137071-32-0
33-Epi-chloro-33-desoxyascomycin
33-epi-Chloro-33-desoxyascomycin
ASM 981
ASM-981
ASM-998
CHEMBL1200686
CID6447131
CID6509979
CID6916008
D05480
DB00337
 
Elidel
Elidel (TN)
I06-1252
LS-181798
MolPort-003-666-749
NCGC00167506-01
Pimecrolimus
Pimecrolimus (JAN/USAN/INN)
Pimecrolimus [USAN:INN:BAN]
Pimecrolimusum
S5004_Selleck
SDZ ASM 981
SDZ-ASM 981
SDZ-ASM-981
UNII-7KYV510875
2
Tacrolimusapproved, investigationalPhase 41074104987-11-3445643, 439492
Synonyms:
(-)-FK 506
(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-5,19-dihydroxy-3-{(1E)-1-[(1R,3R,4R)-4-hydroxy-3-methoxycyclohexyl]prop-1-en-2-yl}-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(prop-2-en-1-yl)-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-3H-15,19-epoxypyrido[2,1-c][1,4]oxazacyclotricosine-1,7,20,21(4H,23H)-tetrone
104987-11-3
109581-93-3 (Hydrate)
15,19-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclotricosine-1,7,20,21(23H)-tetrone,
3S-[3R*[E(1S*,3S*,4S*)],4S*,5R*,8S*,9E,12R*,14R*,15S*,16R*,18S*,19S*,26aR*]]-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-5, 19-dihydroxy-3-[2-(4-hydroxy-3-methoxycyclohexyl)-1-methylethenyl]-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(2-propenyl)-15,19-epoxy-3H-pyrido[2,1-c] [1,4] oxaazacyclotricosine-1,7,20,21(4H,23H)-tetrone
8-DEETHYL-8-[BUT-3-ENYL]-ASCOMYCIN
AC-1182
AC1L1K7H
AC1L97GB
AC1L9IBU
AKOS005145901
Advagraf
Ambap104987-11-3
Ambap5429
Anhydrous tacrolimus
BCBcMAP01_000194
BRD-K35452788-001-02-1
BSPBio-001279
BSPBio_001279
Bio-0921
Bio2_000470
Bio2_000950
C01375
C44H69NO10
CCRIS 7124
CHEBI:100924
CHEBI:61049
CHEMBL1200738
CID11158639
CID11556866
CID439492
CID445643
CID5372
CID5472317
CID6426916
CID6436007
CID6473866
CID6536850
CID6610362
CID6912836
CID9832283
CID9853905
CID9918805
CID9940643
CID9963169
CPD-10016
CPD000466356
D08556
DB00864
DivK1c_001040
FK 506
FK-506
FK5
FK506
FR 900506
FR-900506
 
FR900506
FT-0082660
Fk-506
Fujimycin
Graceptor
HMS1362O21
HMS1792O21
HMS1990O21
HMS2051C18
HMS2093M19
HMS503O21
IDI1_001040
IDI1_002225
K506
KBio1_001040
KBio2_000619
KBio2_003187
KBio2_005755
KBio3_001097
KBio3_001098
KBioGR_000619
KBioSS_000619
L 679934
L-679934
LCP-Tacro
LMPK04000003
LS-64247
MLS000759471
MLS001424054
Modigraf
MolPort-003-666-518
NCGC00163470-01
NCGC00163470-02
NCGC00163470-03
NCGC00163470-04
NCGC00179232-01
NChemBio.2007.16-comp1
NINDS_001040
NSC717865
Prograf
Prograf (TN)
Protopic
Protopy
S5003_Selleck
SAM001246677
SMR000466356
Tacarolimus
Tacrolimus (INN)
Tacrolimus (Prograf?)
Tacrolimus (anhydrous)
Tacrolimus anhydrous
Tacrolimus hydrate
Tacrolimus, anhydrous
Tsukubaenolide
UNII-Y5L2157C4J
nchembio.2007.23-comp2
tacrolimus
tacrolimus hydrate
3
AcetylcysteineapprovedPhase 4, Phase 2, Phase 3316616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
 
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
4
Cysteamineapproved, investigationalPhase 42760-23-16058
Synonyms:
(2-Mercaptoethyl)amine
(Mercaptoethyl)ammonium toluene-p-sulphonate
.beta.-Mercaptoethylamine
1-Amino-2-mercaptoethylamine
139720-70-0
156-57-0 (hydrochloride)
16904-32-8 (di-hydrochloride)
2-AMINO-ETHANETHIOL
2-AMINO-ethanethiol
2-Amino-1-ethanethiol
2-Aminoethanethiol
2-Aminoethyl mercaptan
2-Mercaptoethanamine
2-Mercaptoethylamine
2-Mercaptoethylamine, polymer-bound
27761-19-9 (tartrate (1:1))
2DFDA1F8-7010-4225-8280-AB1C4C43F546
30070_FLUKA
30070_SIGMA
3037-04-5
3037-04-5 (tosylate)
42954-15-4 (hydrobromide)
60-23-1
60-23-1 (Parent)
641022_ALDRICH
93965-19-6 (maleate (1:1))
A0648
AC1L1LPL
AC1Q54NL
AKOS003793343
Aminoethyl mercaptan
Becaptan
C-9500
C01678
C2H7NS
CASH
CCRIS 3083
CHEBI:17141
CHEMBL602
CID6058
CYSTEAMINE
Cisteamina
Cisteamina [Italian]
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteamine hydrochloride
Cysteaminium
Cysteinamine
D03634
DB00847
Decarboxycysteine
DivK1c_006750
 
EINECS 200-463-0
EINECS 221-235-7
Ethanethiolamine
HSDB 7353
KBio1_001694
KBio2_002235
KBio2_004803
KBio2_007371
KBioSS_002235
L 1573
L-1573
LS-65761
Lambraten
Lambratene
Lopac-M-6500
M9768_ALDRICH
M9768_SIGMA
MEA
MEA (mercaptan)
Mecramine
Mercamin
Mercamine
Mercaptamin
Mercaptamina
Mercaptamina [INN-Spanish]
Mercaptamine
Mercaptamine (INN)
Mercaptaminum
Mercaptaminum [INN-Latin]
Mercaptoethylamine
Merkamin
MolPort-001-662-635
NCGC00015691-01
NCGC00015691-04
NCGC00162236-01
NCI60_002000
NSC 647528
NSC647528
Riacon
STK315355
SpecPlus_000654
Spectrum_001755
Thioethanolamine
UNII-5UX2SD1KE2
WR 347
b-Aminoethanethiol
b-Aminoethylthiol
b-Mercaptoethylamine
beta-Aminoethanethiol
beta-Aminoethylthiol
beta-MEA
beta-Mercaptoethylamine
bmse000388
cysteamine bitartrate
nchembio.315-comp1
nchembio.316-comp1
β-MEA
β-aminoethylthiol
5
Interferon beta-1bapprovedPhase 4, Phase 282145155-23-3
Synonyms:
Betaseron
 
Fibroblast interferon
IFN-beta
Interferon beta precursor
6
AcetylcholineapprovedPhase 477651-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
7abobotulinumtoxinAPhase 4626
8Botulinum ToxinsPhase 4669
9Respiratory System AgentsPhase 4, Phase 2, Phase 3, Phase 14818
10Protective AgentsPhase 4, Phase 2, Phase 3, Phase 17190
11ExpectorantsPhase 4, Phase 2, Phase 3388
12N-monoacetylcystinePhase 4, Phase 2, Phase 3316
13Botulinum Toxins, Type APhase 4630
14Interferon-betaPhase 4, Phase 2280
15onabotulinumtoxinAPhase 4626
16Adjuvants, ImmunologicPhase 4, Phase 22484
17Neurotransmitter AgentsPhase 4, Phase 3, Phase 217734
18Neuromuscular AgentsPhase 4, Phase 1, Phase 21129
19incobotulinumtoxinAPhase 4635
20Anti-Infective AgentsPhase 4, Phase 2, Phase 3, Phase 121402
21Cholinergic AgentsPhase 43846
22Anti-Inflammatory Agents, Non-SteroidalPhase 4, Phase 3, Phase 1, Phase 24295
23Antirheumatic AgentsPhase 4, Phase 3, Phase 1, Phase 210627
24Anti-Inflammatory AgentsPhase 4, Phase 3, Phase 2, Phase 110355
25AnalgesicsPhase 4, Phase 3, Phase 1, Phase 211287
26interferonsPhase 4, Phase 22137
27AntioxidantsPhase 4, Phase 3, Phase 2, Phase 12928
28Calcineurin InhibitorsPhase 41597
29Analgesics, Non-NarcoticPhase 4, Phase 3, Phase 1, Phase 26260
30Antiviral AgentsPhase 4, Phase 2, Phase 3, Phase 19732
31AntidotesPhase 4, Phase 2, Phase 31038
32Dermatologic AgentsPhase 45674
33Fingolimod HydrochloridePhase 487
34Immunosuppressive AgentsPhase 4, Phase 1, Phase 212770
35Peripheral Nervous System AgentsPhase 4, Phase 3, Phase 2, Phase 122776
36
Bevacizumabapproved, investigationalPhase 3, Phase 1, Phase 21968216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
37
RanibizumabapprovedPhase 3, Phase 1, Phase 2474347396-82-1459903
Synonyms:
347396-82-1
D05697
Lucentis
Lucentis (TN)
 
Ranibizumab
Ranibizumab (USAN/INN)
Ranibizumab (genetical recombination)
Ranibizumab (genetical recombination) (JAN)
ranibizumab
rhuFab V2
38
Riluzoleapproved, investigationalPhase 3, Phase 2631744-22-55070
Synonyms:
1744-22-5
2-Amino-6-(trifluoromethoxy)-benzothiazole
2-Amino-6-(trifluoromethoxy)benzothiazole
2-Amino-6-trifluoro- methoxybenzothiazole
2-amino-6-(trifluoromethoxy)-1,3-benzothiazole
2-amino-6-(trifluoromethoxy)benzo[d]thiazole
2-amino-6-(trifluoromethoxyl)benzothiazole
2-amino-6-trifluoromethoxybenzothiazole
6-(trifluoromethoxy)-1,3-benzothiazol-2-amine
6-(trifluoromethoxy)benzo[d]thiazol-2-amine
6-Trifluoromethoxy-benzothiazol-2-ylamine
6-trifluoromethoxybenzothiazole-2-yl-amine
AC-730
AC1L1JJL
AC1Q530H
AKOS000265071
ALBB-006046
Amino-2 trifluoromethoxy-6 benzothiazole
Amino-2 trifluoromethoxy-6 benzothiazole [French]
BB_SC-4839
BF-37
BIDD:GT0055
BPBio1_000037
BPBio1_000837
BRD-K21283037-001-02-5
BRD-K21283037-003-03-9
BSPBio_000033
Bio1_000416
Bio1_000905
Bio1_001394
Biomol-NT_000245
C07937
C8H5F3N2OS
CHEMBL744
CID5070
D00775
DB00740
EU-0101064
FT-0082997
HMS1773G08
HMS2089O19
HMS2094G07
I01-2084
LS-40688
 
Lopac-R-116
Lopac0_001064
MLS000069369
MolPort-000-151-262
NCGC00015882-01
NCGC00015882-02
NCGC00015882-03
NCGC00015882-07
NCGC00015882-11
NCGC00023141-02
NCGC00023141-04
NCGC00023141-05
NCGC00023141-06
PK-26124
PK-26124, RP-54274, Rilutek, Riluzole
Prestwick-03A08
Prestwick0_000167
Prestwick1_000167
Prestwick2_000167
Prestwick3_000167
R-116
R116_SIGMA
RP 54274
RP-54274
Rilutek
Rilutek (TN)
Riluzol
Riluzol [INN-Spanish]
Riluzole
Riluzole (JAN/USAN/INN)
Riluzole HCl
Riluzole [USAN:INN]
Riluzolum
Riluzolum [INN-Latin]
S1614_Selleck
SMR000058231
SPBio_000599
SPBio_001954
STK503686
Spectrum2_000550
Tocris-0768
UNII-7LJ087RS6F
ZERO/001785
ZINC00006481
riluzole
39
SpironolactoneapprovedPhase 2, Phase 32221952-01-7, 52-01-75833
Synonyms:
4-18-00-01601 (Beilstein Handbook Reference)
4-Pregnen-21-oic acid-17alpha-ol-3-one-7alpha-thiol gamma-lactone 7-acetate
496916-40-6
52-01-7
7-alpha-Acetylthio-3-oxo-17-alpha-pregn-4-ene-21,17-beta-carbolactone
7alpha-(acetylsulfanyl)-3-oxo-17alpha-pregn-4-ene-21,17-carbolactone
AB00513806
AC-4214
AC1L1L8Q
Abbolactone
Acelat
Aldace
Aldactazide
Aldactide
Aldactone
Aldactone (TN)
Aldactone A
Alderon
Aldopur
Almatol
Alphapharm Brand of Spironolactone
Alpharma Brand of Spironolactone
Alter Brand of Spironolactone
Altex
Aquareduct
Ashbourne Brand of Spironolactone
Azupharma Brand of Spironolactone
BIDD:PXR0071
BPBio1_000194
BRD-K90027355-001-03-4
BRN 0057767
BSPBio_000176
C07310
C24H32O4S
CHEBI:428201
CHEBI:45692
CHEBI:9241
CHEMBL1393
CID5833
CPD000471892
Cardel Brand of Spironolactone
D00443
D013148
DB00421
Deverol
Dexo Brand of Spironolactone
Diatensec
Dira
Duraspiron
EINECS 200-133-6
Espironolactona
Espironolactona Alter
Espironolactona Mundogen
Espironolactona [INN-Spanish]
Euteberol
Flumach
Frumikal
Generosan Brand of Spironolactone
HMS1568I18
HMS2090N21
HSDB 3184
Hormosan Brand of Spironolactone
I06-1970
Jenapharm Brand of Spironolactone
Jenaspiron
LS-118614
LT00772287
Lacalmin
Lacdene
Laractone
MLS001074672
MLS001333253
MLS001333254
MLS002153245
MLS002207058
Mayoly-Spindler Brand of Spironolactone
Melarcon
Merck dura Brand of Spironolactone
Mundogen Brand of Spironolactone
NCGC00164397-01
 
NCGC00164397-02
NSC 150399
NSC150399
Nefurofan
Novo Spiroton
Novo-Spiroton
NovoSpiroton
Novopharm Brand of Spironolactone
Osyrol
Pfizer Brand of Spironolactone
Pharmafrid Brand of Spironolactone
Practon
Prestwick0_000128
Prestwick1_000128
Prestwick2_000128
Prestwick3_000128
Roche Brand of Spironolactone
S0260
S3378_SIGMA
SAM002264648
SC 9420
SC-9420
SC9420
SMR000471892
SNL
SPBio_002115
Sagisal
Searle Brand of Spironolactone
Sincomen
Spiractin
Spiresis
Spiretic
Spiridon
Spiro L.U.T.
Spiro(17H-cyclopenta(a)phenauthrene-17,2'-(3'H)-furan)
Spiro-Tablinen
Spiro[17H-cyclopenta[a]phenauthrene-17,2'-(3'H)-furan]
Spirobeta
Spiroctan
Spiroctanie
Spiroderm
Spirogamma
Spirolactone
Spirolakton
Spirolang
Spirolone
Spirone
Spirono Isis
Spirono-Isis
Spironocompren
Spironolactone
Spironolactone (JP15/USP/INN)
Spironolactone A
Spironolactone [BAN:INN:JAN]
Spironolactone [INN:BAN:JAN]
Spironolactonum
Spironolactonum [INN-Latin]
Spironolattone
Spironolattone [DCIT]
Spironone
Spirospare
Sprioderm
Supra-puren
Suracton
UNII-27O7W4T232
Uractone
Urusonin
Veroshpiron
Verospiron
Verospirone
Verospirone Opianin
WLN: L E5 B666 FX OV MUTJ A1 E1 KSV1 F-& CT5VOXTJ
Worwag Brand of Spironolactone
Xenalon
ZINC03861599
betapharm Brand of Spironolactone
ct Arzneimittel Brand of Spironolactone
ct-Arzneimittel Brand of Spironolactone
spiro von ct
spironolactone
spironolattone
von ct, spiro
40
EplerenoneapprovedPhase 2, Phase 394107724-20-9150310, 443872
Synonyms:
107724-20-9
7alpha-methoxycarbonyl-3-oxo-9,11alpha-epoxy-17alpha-pregn-4-ene-21,17-carbolactone
AC-4213
AC1L9FDC
C12512
CGP-30083
CHEBI:31547
CHEBI:726453
CHEMBL1095097
CID443872
D01115
Eplerenone
 
Eplerenone (JAN/USAN/INN)
Epoxymexrenone
Inspra
Inspra (TN)
Inspra, Epoxymexrenone, CGP30083, SC-66110,Eplerenone
MolPort-003-986-216
NCGC00159559-01
NCGC00159559-02
S1707_Selleck
SC-66110
Selara
TL8000270
ZINC03985982
41
IronapprovedPhase 2, Phase 311237439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
42
MetforminapprovedPhase 2, Phase 31746657-24-914219, 4091
Synonyms:
1,1-Dimethyl biguanide
1,1-Dimethylbiguanide
3-(diaminomethylidene)-1,1-dimethylguanidine
657-24-9
AC1L1HE4
AKOS000121065
Apo-Metformin
BIDD:GT0697
BPBio1_000009
BRD-K79602928-003-04-1
BSPBio_000007
BSPBio_002314
C07151
C4H11N5
CAS-1115-70-4
CCRIS 9321
CHEBI:6801
CHEMBL1431
CID4091
D04966
DB00331
DMGG
Diabetosan
Diabex
Dimethylbiguanid
Dimethylbiguanide
Dimethylbiguanidine
Dimethyldiguanide
Dimethylguanylguanidine
EINECS 211-517-8
Fluamine
Flumamine
Fortamet
Gen-Metformin
Glifage
Gliguanid
Glucophage
Glucophage XR
Glumetza
Glycon
HMS2089D19
HSCI1_000295
Haurymelin
Haurymellin
Islotin
KBio2_002310
KBio2_004878
KBio2_007446
KBio3_002790
KBioGR_002310
 
KBioSS_002312
LA-6023
LS-43899
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin [USAN:INN:BAN]
Metformina
Metformina [DCIT]
Metformina [Spanish]
Metformine
Metformine [INN-French]
Metformine pamoate
Metforminum
Metforminum [INN-Latin]
Metiguanide
MolPort-002-929-560
MolPort-004-288-389
MolPort-005-767-418
Mylan-Metformin
N,N-Dimethylbiguanide
N,N-Dimethyldiguanide
N,N-Dimethylimidodicarbonimidic diamide
N,N-dimethylimidodicarbonimidic diamide
N1,N1-Dimethylbiguanide
NCGC00016564-01
NCGC00016564-02
NCGC00016564-03
NNDG
Novo-Metformin
Nu-Metformin
PMS-Metformin
Prestwick0_000004
Prestwick1_000004
Prestwick2_000004
Prestwick3_000004
Ran-Metformin
Ratio-Metformin
Riomet
S2483_Selleck
SPBio_001928
STK011633
Sandoz Metformin
Siofor
T5895664
Teva-Metformin
UNII-9100L32L2N
ZINC12859773
cMAP_000016
metformin
metformin hydrochloride
43
DeferiproneapprovedPhase 2, Phase 35730652-11-02972
Synonyms:
1,2-Dimethyl-3-hydroxypyrid-4-one
3-Hydroxy-1,2-dimethyl-4(1H)-pyridone
APO-066
CP-20
DN-180-01-AF
Deferipron
 
Deferiprona
Deferiproni
Deferipronum
Deferypron
Dimethylhydroxypyridone
Défériprone
Ferriprox
PL-1
44
Folic Acidapproved, nutraceutical, vet_approvedPhase 2, Phase 3, Phase 1427959-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
45Hypoglycemic AgentsPhase 2, Phase 35733
46IncretinsPhase 2, Phase 31537
47Hormone AntagonistsPhase 3, Phase 212778
48Pharmaceutical SolutionsPhase 2, Phase 3, Phase 17793
49Ophthalmic SolutionsPhase 2, Phase 3, Phase 11092
50Angiogenesis InhibitorsPhase 3, Phase 1, Phase 24143

Interventional clinical trials:

(show top 50)    (show all 125)
idNameStatusNCT IDPhase
1Fingolimod Versus Interferon Beta 1b in Cognitive SymptomsCompletedNCT01333501Phase 4
2Reconstitution With Pimecrolimus Cream 1% of Steroid-damaged Skin in Adults With Atopic DermatitisCompletedNCT00367393Phase 4
3Cystagon to Treat Infantile Neuronal Ceroid LipofuscinosisCompletedNCT00028262Phase 4
4Upper Facial Remodeling With Perlane-L and DysportCompletedNCT01354743Phase 4
5PreView PHP Preferential Hyperacuity Perimeter for the Detection of Choroidal NeovascularizationCompletedNCT00358345Phase 4
6Assessment of Early Changes in SD-OCT After Initiation of a Treatment by Intravitreal Aflibercept (EYLEA®)STARTCompletedNCT02246829Phase 4
7Phase II/III Study of the Efficacy and Safety of MacuCLEAR MC-1101 in Treating DryAge-Related Macular DegenerationUnknown statusNCT02127463Phase 2, Phase 3
8Physiopathological Study and Pharmacological Modulation of Cutaneous Atrophy's Markers Induced by GlucocorticoidsUnknown statusNCT00709579Phase 3
9A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON)CompletedNCT00528151Phase 3
10Complications of Age-Related Macular Degeneration Prevention TrialCompletedNCT00000167Phase 3
11Lipoic Acid for Secondary Progressive Multiple Sclerosis (MS)CompletedNCT01188811Phase 2, Phase 3
12Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 MutationRecruitingNCT02652780Phase 3
13Treatment of Optic Neuritis With Erythropoietin: a Randomised, Double-blind, Placebo-controlled TrialRecruitingNCT01962571Phase 3
14A Phase 2/3 Trial to Assess the Safety and Efficacy of Intravitreous Administration of Zimura® (Anti-C5 Aptamer) in Subjects With Geographic Atrophy Secondary to Dry Age-Related Macular DegenerationRecruitingNCT02686658Phase 2, Phase 3
15Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based TherapyNot yet recruitingNCT02882477Phase 2, Phase 3
16A Study of the Beneficial Effects of Eplerenone on Central Serous ChorioretinopathyNot yet recruitingNCT02215330Phase 2, Phase 3
17Safety and Effectiveness Investigation for Dry, Non-Exudative Age Related Macular Degeneration (AMD) Using RheopheresisSuspendedNCT00460967Phase 3
18Geographic Atrophy Treatment EvaluationTerminatedNCT00890097Phase 3
19Efficacy and Safety Study of MC-1101 1% TID in the Treatment of Nonexudative Age-Related Macular DegenerationTerminatedNCT01601483Phase 2, Phase 3
20Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS)TerminatedNCT00211224Phase 3
21Safety and Efficacy Study of BCD-021 Compared to Lucentis® in Patients With Neovascular Wet Age-related Macular DegenerationWithdrawnNCT02036723Phase 3
22Study the Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Optic Nerve DiseaseUnknown statusNCT01834079Phase 1, Phase 2
23The OMEGA Study: Use of Eye Drops to Treat Geographic Atrophy Associated With Age-Related Macular Degeneration (Dry AMD)Unknown statusNCT00485394Phase 2
24Pilot Study to Evaluate the Safety and Efficacy of Treatment With ORA102 Combined With Avastin (Bevacizumab) Versus Avastin Alone, in Patients With Neovascular Age Related Macular Degeneration (AMD)Unknown statusNCT00745511Phase 1, Phase 2
25Safety Study of Use of Autologous Bone Marrow Derived Stem Cell in Treatment of Age Related Macular DegenerationUnknown statusNCT02016508Phase 1, Phase 2
26Safety and Efficacy Study of Erythropoietin as add-on Therapy of Methylprednisolone to Treat Acute Optic NeuritisCompletedNCT00355095Phase 2
27Safety and Efficacy of Brimonidine Intravitreal Implant in Patients With Geographic Atrophy Due to Age-related Macular Degeneration (AMD)CompletedNCT00658619Phase 2
28Study to Assess Efficacy,Safety and Tolerability of Idebenone in the Treatment of Leber's Hereditary Optic NeuropathyCompletedNCT00747487Phase 2
29Sirolimus for Advanced Age-Related Macular DegenerationCompletedNCT01445548Phase 1, Phase 2
30Pilot Study of the Evaluation of Subconjunctival Sirolimus in the Treatment of Bilateral GA Associated With AMDCompletedNCT00766649Phase 1, Phase 2
31A Study of an Encapsulated Cell Technology (ECT) Implant for Patients With Atrophic Macular DegenerationCompletedNCT00447954Phase 2
32A Study of MTP-131 Topical Ophthalmic Solution in Subjects With Diabetic Macular Edema and Non-Exudative Intermediate Age-related Macular DegenerationCompletedNCT02314299Phase 1, Phase 2
33Study of Human Central Nervous System Stem Cells (HuCNS-SC) in Age-Related Macular Degeneration (AMD)CompletedNCT01632527Phase 1, Phase 2
34Safety and Tolerability of Sub-retinal Transplantation of hESC Derived RPE (MA09-hRPE) Cells in Patients With Advanced Dry Age Related Macular DegenerationCompletedNCT01344993Phase 1, Phase 2
35Toronto and Oak Ridge Photobiomodulation Study for Dry Age Related Macular DegenerationCompletedNCT00940407Phase 2
36Study of Fenretinide in the Treatment of Geographic Atrophy Associated With Dry Age-Related Macular DegenerationCompletedNCT00429936Phase 2
37To Evaluate the Pharmacodynamics, Safety, and Pharmacokinetics of Pazopanib Drops in Adult Subjects With Neovascular AMDCompletedNCT00612456Phase 2
38A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram SyndromeRecruitingNCT02829268Phase 1, Phase 2
39A Study Investigating the Safety, Tolerability, and Efficacy of Elamipretide (MTP-131) Topical Ophthalmic Solution for the Treatment of Leber's Hereditary Optic NeuropathyRecruitingNCT02693119Phase 2
40Study of Subretinal Implantation of Human Embryonic Stem Cell-Derived RPE Cells in Advanced Dry AMDRecruitingNCT02590692Phase 1, Phase 2
41Evaluation of Oral Minocycline in the Treatment of Geographic Atrophy Associated With Age-Related Macular DegenerationRecruitingNCT02564978Phase 2
42Amiloride Hydrochlorothiazide as Treatment of Acute Inflammation of the Optic NerveRecruitingNCT01879527Phase 2
43BioCurrent Electrical Stimulation for the Treatment of Dry ARMDRecruitingNCT02699216Phase 1, Phase 2
44Alpha Lipoic Acid in Geographic AtrophyRecruitingNCT02613572Phase 1, Phase 2
45Safety and Efficacy Study of OpRegen for Treatment of Advanced Dry-Form Age-Related Macular DegenerationRecruitingNCT02286089Phase 1, Phase 2
46A Study to Evaluate the Safety and Clinical Response of Subretinal Administration of CNTO 2476 in Participants With Geographic AtrophyRecruitingNCT02659098Phase 2
47Prophylactic Ranibizumab for Exudative Age-related Macular DegenerationRecruitingNCT02140151Phase 1, Phase 2
48Efficacy, Safety and Tolerability of Andrographolides Versus Placebo in Patients With Progressive Forms of MSRecruitingNCT02273635Phase 1, Phase 2
49Pharmacodynamic Study of Emixustat Hydrochloride in Subjects With Macular Atrophy Secondary to Stargardt DiseaseRecruitingNCT03033108Phase 2
50Safety Evaluation of Gene Therapy in Leber Hereditary Optic Neuropathy (LHON) PatientsActive, not recruitingNCT02064569Phase 1, Phase 2

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 124 OPA1

Anatomical Context for Optic Atrophy 1

About this section

MalaCards organs/tissues related to Optic Atrophy 1:

36
Retina, Eye, Bone, Lung, Endothelial, Skin, Skeletal muscle

Publications for Optic Atrophy 1

About this section

Articles related to Optic Atrophy 1:

idTitleAuthorsYear
1
Optic Atrophy 1 Is Epistatic to the Core MICOS Component MIC60 in Mitochondrial Cristae Shape Control. (27974214)
2016
2
Dominant optic atrophy: updates on the pathophysiology and clinical manifestations of the optic atrophy 1 mutation. (27585216)
2016
3
Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome). (27879217)
2016
4
Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy. (23401657)
2013
5
Optic atrophy 1 mediates mitochondria remodeling and dopaminergic neurodegeneration linked to complex I deficiency. (22858546)
2013
6
Overexpression of optic atrophy 1 protein increases cisplatin resistance via inactivation of caspase-dependent apoptosis in lung adenocarcinoma cells. (21798574)
2012
7
The mitochondrial inner membrane GTPase, optic atrophy 1 (Opa1), restores mitochondrial morphology and promotes neuronal survival following excitotoxicity. (21041314)
2011
8
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

About this section

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

70 (show all 49)
id Symbol AA change Variation ID SNP ID
1OPA1p.Arg290GlnVAR_011483rs121908375
2OPA1p.Gly300GluVAR_011484rs28939082
3OPA1p.Arg445HisVAR_015741rs80356529
4OPA1p.Leu396ArgVAR_022927rs727504060
5OPA1p.Thr503LysVAR_022928
6OPA1p.Arg571HisVAR_022929rs140606054
7OPA1p.Ser545ArgVAR_026533rs398124298
8OPA1p.Leu939ProVAR_028370
9OPA1p.Ala8SerVAR_060825rs794726939
10OPA1p.Tyr80CysVAR_060826rs151103940
11OPA1p.Thr95MetVAR_060827rs201214736
12OPA1p.Tyr102CysVAR_060828rs530896300
13OPA1p.Glu270LysVAR_060829
14OPA1p.Leu272ProVAR_060830
15OPA1p.Asp273AlaVAR_060831
16OPA1p.Arg290TrpVAR_060832rs780333963
17OPA1p.Gln310ArgVAR_060834rs770966290
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_060854rs147077380
32OPA1p.Arg590TrpVAR_060855rs778998909
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_060868rs145710079
44OPA1p.Leu949ProVAR_060869
45OPA1p.Pro400AlaVAR_067355
46OPA1p.Thr330SerVAR_072125
47OPA1p.Val377IleVAR_072126rs780922750
48OPA1p.Gly439ValVAR_072127rs387906900
49OPA1p.Gly459GluVAR_072129

Clinvar genetic disease variations for Optic Atrophy 1:

5 (show all 44)
id Gene Variation Type Significance SNP ID Assembly Location
1OPA1NM_015560.2(OPA1): c.533T> A (p.Leu178Ter)SNVPathogenicrs727504058GRCh37Chr 3, 193335051: 193335051
2OPA1NM_015560.2(OPA1): c.870+1G> ASNVPathogenicrs727504059GRCh37Chr 3, 193355071: 193355071
3OPA1NM_015560.2(OPA1): c.1187T> G (p.Leu396Arg)SNVPathogenicrs727504060GRCh37Chr 3, 193361208: 193361208
4OPA1NM_015560.2(OPA1): c.2883A> C (p.Ter961Tyr)SNVLikely pathogenicrs143929819GRCh37Chr 3, 193409916: 193409916
5OPA1NM_015560.2(OPA1): c.1199C> T (p.Pro400Leu)SNVLikely pathogenicrs794727069GRCh37Chr 3, 193361220: 193361220
6OPA1NM_015560.2(OPA1): c.292_301delTTAAAACTTC (p.Leu98Alafs)deletionPathogenicrs794727289GRCh37Chr 3, 193332771: 193332780
7OPA1NM_015560.2(OPA1): c.2059_2060delGA (p.Glu687Thrfs)deletionPathogenicrs794727345GRCh37Chr 3, 193374914: 193374915
8OPA1NM_015560.2(OPA1): c.2496+1G> TSNVPathogenicrs794727392GRCh37Chr 3, 193380752: 193380752
9OPA1NM_015560.2(OPA1): c.2569C> T (p.Arg857Ter)SNVPathogenicrs794727405GRCh37Chr 3, 193382741: 193382741
10OPA1NM_015560.2(OPA1): c.635_636delAA (p.Lys212Argfs)deletionPathogenicrs794727804GRCh37Chr 3, 193349411: 193349412
11OPA1NM_015560.2(OPA1): c.1065+1G> TSNVPathogenicrs80356528GRCh37Chr 3, 193360635: 193360635
12OPA1NM_015560.2(OPA1): c.2131C> T (p.Arg711Ter)SNVLikely pathogenicrs863224906GRCh37Chr 3, 193374986: 193374986
13OPA1NM_015560.2(OPA1): c.728T> A (p.Leu243Ter)SNVPathogenicrs863225274GRCh37Chr 3, 193353256: 193353256
14OPA1NM_015560.2(OPA1): c.1067_1068dupTT (p.Ala357Leufs)duplicationPathogenicrs863225275GRCh37Chr 3, 193360765: 193360766
15OPA1NM_015560.2(OPA1): c.1202G> A (p.Gly401Asp)SNVPathogenicrs863225276GRCh37Chr 3, 193361223: 193361223
16OPA1NM_015560.2(OPA1): c.1310A> G (p.Gln437Arg)SNVPathogenicrs863225277GRCh37Chr 3, 193361414: 193361414
17OPA1NM_130837.2(OPA1): c.1817G> A (p.Cys606Tyr)SNVPathogenicrs879255592GRCh37Chr 3, 193364916: 193364916
18OPA1NM_015560.2(OPA1): c.985-2A> GSNVPathogenicrs886041317GRCh37Chr 3, 193360552: 193360552
19OPA1NM_015560.2(OPA1): c.1140+1G> ASNVPathogenicrs745927258GRCh37Chr 3, 193360839: 193360839
20OPA1NM_015560.2(OPA1): c.2822_2823delAA (p.Lys941Serfs)deletionPathogenicrs886043136GRCh37Chr 3, 193409855: 193409856
21OPA1NM_130837.2(OPA1): c.2816dupA (p.Arg940Alafs)duplicationPathogenicrs886043317GRCh37Chr 3, 193384122: 193384122
22OPA1NM_015560.2(OPA1): c.1294A> G (p.Ile432Val)SNVPathogenicrs387906899GRCh37Chr 3, 193361398: 193361398
23OPA1NM_130837.2(OPA1): c.1800C> G (p.Ser600Arg)SNVPathogenicrs398124298GRCh37Chr 3, 193364899: 193364899
24OPA1NM_015560.2(OPA1): c.1316G> T (p.Gly439Val)SNVPathogenicrs387906900GRCh37Chr 3, 193361767: 193361767
25OPA1NM_015560.2(OPA1): c.2729T> A (p.Val910Asp)SNVPathogenicrs387906901GRCh37Chr 3, 193384980: 193384980
26OPA1NM_015560.2(OPA1): c.899G> A (p.Gly300Glu)SNVPathogenicrs28939082GRCh37Chr 3, 193355769: 193355769
27OPA1NM_015560.2(OPA1): c.985-1G> ASNVPathogenicrs879255510GRCh38Chr 3, 193642764: 193642764
28OPA1NM_015560.2(OPA1): c.2708_2711delTTAG (p.Val903Glyfs)deletionPathogenicrs80356530GRCh37Chr 3, 193384959: 193384962
29OPA1NM_015560.2(OPA1): c.2825_2828delTTAG (p.Val942Glufs)deletionPathogenicrs879255560GRCh37Chr 3, 193409858: 193409861
30OPA1NM_015560.2(OPA1): c.869G> A (p.Arg290Gln)SNVPathogenicrs121908375GRCh37Chr 3, 193355069: 193355069
31OPA1NM_015560.2(OPA1): c.1096C> T (p.Arg366Ter)SNVPathogenicrs104893753GRCh37Chr 3, 193360794: 193360794
32OPA1NM_015560.2(OPA1): c.1296_1298delCAT (p.Ile433del)deletionPathogenicrs879255511GRCh37Chr 3, 193361400: 193361402
33OPA1NM_015560.2(OPA1): c.1146A> G (p.Ile382Met)SNVLikely pathogenic, Pathogenicrs143319805GRCh37Chr 3, 193361167: 193361167
34OPA1NM_015560.2(OPA1): c.1354delG (p.Val452Serfs)deletionPathogenicrs879255512GRCh38Chr 3, 193644016: 193644016
35OPA1NM_015560.2(OPA1): c.2826delT (p.Arg943Glufs)deletionPathogenicrs80356531GRCh37Chr 3, 193409859: 193409859
36OPA1NM_015560.2(OPA1): c.1745A> G (p.Tyr582Cys)SNVPathogenicrs121908376GRCh37Chr 3, 193365898: 193365898
37OPA1NM_015560.2(OPA1): c.1334G> A (p.Arg445His)SNVPathogenicrs80356529GRCh37Chr 3, 193361785: 193361785
38OPA1NM_015560.2(OPA1): c.2848_2849delGA (p.Asp950Cysfs)deletionPathogenicrs879255513GRCh38Chr 3, 193692092: 193692093
39OPA1NM_130837.2(OPA1): c.740G> A (p.Arg247His)SNVPathogenicrs138350727GRCh37Chr 3, 193343942: 193343942
40OPA1NM_015560.2(OPA1): c.1352delT (p.Leu451Trpfs)deletionPathogenicrs398124297GRCh37Chr 3, 193361803: 193361803
41OPA1NM_015560.2(OPA1): c.1635C> A (p.Ser545Arg)SNVPathogenicrs398124298GRCh37Chr 3, 193364899: 193364899
42OPA1NM_015560.2(OPA1): c.1669C> T (p.Arg557Ter)SNVPathogenicrs398124299GRCh37Chr 3, 193364933: 193364933
43OPA1NM_015560.2(OPA1): c.2257C> T (p.Gln753Ter)SNVPathogenicrs398124301GRCh37Chr 3, 193376766: 193376766
44OPA1NM_015560.2(OPA1): c.983A> G (p.Lys328Arg)SNVPathogenicrs398124303GRCh37Chr 3, 193355853: 193355853

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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Pathways related to Optic Atrophy 1 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.5MFN2, OPA1
29.2CYCS, OPA1

GO Terms for genes affiliated with Optic Atrophy 1

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Cellular components related to Optic Atrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial outer membraneGO:000574110.2MFN2, OPA1
2mitochondrial intermembrane spaceGO:00057589.9CYCS, OPA1
3mitochondrionGO:00057398.1CYCS, DNM3, MFN2, OPA1

Biological processes related to Optic Atrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial fusionGO:000805310.0MFN2, OPA1
2mitochondrion organizationGO:00070059.2CYCS, OPA1

Molecular functions related to Optic Atrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1GTP bindingGO:00055259.5DNM3, MFN2, OPA1
2GTPase activityGO:00039248.9DNM3, MFN2, OPA1

Sources for Optic Atrophy 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet