MCID: OPT053
MIFTS: 37

Optic Atrophy 1 malady

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

Aliases & Classifications for Optic Atrophy 1

About this section

Aliases & Descriptions for Optic Atrophy 1:

Name: Optic Atrophy 1 49 11 45 67
Optic Atrophy Type 1 21 22 23 24
Optic Atrophy, Autosomal Dominant 23 65
Optic Atrophy, Kjer Type 45 23
Optic Atrophy, Juvenile 45 23
Kjer-Type Optic Atrophy 45 67
Kjer Type Optic Atrophy 22 23
Opa1 45 67
Oak 45 67
Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 65
 
Optic Atrophy, Hereditary, Autosomal Dominant 23
Autosomal Dominant Optic Atrophy Kjer Type 23
Autosomal Dominant Optic Atrophy 23
Optic Atrophy Autosomal Dominant 47
Optic Atrophy Kjer Type 67
Optic Atrophy Juvenile 67
Dominant Optic Atrophy 23
Kjer's Optic Atrophy 23
Adoa 23
Doa 23

Characteristics:

HPO:

61
optic atrophy 1:
Onset and clinical course: incomplete penetrance, insidious onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 165500
MedGen34 C0338508
MeSH36 D029241
UMLS65 C0338508, C3276549

Summaries for Optic Atrophy 1

About this section
OMIM:49 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 glaucoma, normal tension and autosomal dominant optic atrophy plus syndrome, 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). Affiliated tissues include retina, eye and bone, and related mouse phenotypes are nervous system and behavior/neurological.

NIH Rare Diseases:45 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

UniProtKB/Swiss-Prot:67 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:23 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.

Wikipedia:68 Dynamin-like 120 kDa protein, mitochondrial is a protein that in humans is encoded by the OPA1 gene.... more...

GeneReviews summary for NBK1248

Related Diseases for Optic Atrophy 1

About this section

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



Diseases related to optic atrophy 1

Symptoms for Optic Atrophy 1

About this section

Symptoms by clinical synopsis from OMIM:

165500

Clinical features from OMIM:

165500

HPO human phenotypes related to Optic Atrophy 1:

(show all 13)
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 reduced visual acuity HP:0007663
7 abnormal amplitude of pattern reversal visual evoked potentials HP:0000650
8 optic atrophy HP:0000648
9 red-green dyschromatopsia HP:0000642
10 central scotoma HP:0000603
11 centrocecal scotoma HP:0000576
12 tritanomaly HP:0000552
13 visual impairment HP:0000505

Drugs & Therapeutics for Optic Atrophy 1

About this section

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

(show top 50)    (show all 155)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcysteineapprovedPhase 4293616-91-112035
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
2
Cysteamineapproved, investigationalPhase 42360-23-16058
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]
Cystagon
Cystaran
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine Bitartrate
Cysteamine Hydrochloride
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
3
Pimecrolimusapproved, investigationalPhase 460137071-32-06447131, 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
4
Tacrolimusapproved, investigationalPhase 41023104987-11-3445643, 439492, 445647
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
8-DEETHYL-8-[but-3-enyl]-ascomycin
AC-1182
AC1L1K7H
AC1L97GB
AC1L9IBU
AKOS005145901
Advagraf
Ambap104987-11-3
Ambap5429
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
Hecoria
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
Tacrolimus (INN)
Tacrolimus (Prograf?)
Tacrolimus (anhydrous)
Tacrolimus Hydrate
Tacrolimus anhydrous
Tacrolimus hydrate
Tsukubaenolide
UNII-Y5L2157C4J
nchembio.2007.23-comp2
tacrolimus
tacrolimus hydrate
5
Interferon beta-1bapprovedPhase 4, Phase 282145155-23-3
Synonyms:
Betaseron
Extavia
 
Fibroblast interferon
IFN-beta
Interferon beta precursor
6
AcetylcholineexperimentalPhase 468951-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
Miochol E
O-Acetylcholine
acetylcholine chloride
7Neuromuscular AgentsPhase 4922
8ExpectorantsPhase 4337
9AntioxidantsPhase 4, Phase 3, Phase 2, Phase 12442
10Neurotransmitter AgentsPhase 4, Phase 3, Phase 214795
11Adjuvants, ImmunologicPhase 41783
12N-monoacetylcystinePhase 4293
13Protective AgentsPhase 4, Phase 2, Phase 3, Phase 15651
14Botulinum ToxinsPhase 4616
15Botulinum Toxins, Type APhase 4588
16IncobotulinumtoxinAPhase 4599
17AbobotulinumtoxinAPhase 4588
18Respiratory System AgentsPhase 4, Phase 2, Phase 13931
19Cholinergic AgentsPhase 43243
20OnabotulinumtoxinAPhase 4588
21Immunosuppressive AgentsPhase 4, Phase 1, Phase 210422
22Interferon-betaPhase 4, Phase 2253
23Immunologic FactorsPhase 4, Phase 3, Phase 1, Phase 218483
24Fingolimod HydrochloridePhase 486
25Anti-Infective AgentsPhase 4, Phase 1, Phase 217220
26Antiviral AgentsPhase 4, Phase 1, Phase 28071
27Peripheral Nervous System AgentsPhase 4, Phase 3, Phase 2, Phase 118510
28interferonsPhase 4, Phase 21930
29Calcineurin InhibitorsPhase 41223
30Dermatologic AgentsPhase 44555
31AnalgesicsPhase 4, Phase 3, Phase 1, Phase 29358
32Antirheumatic AgentsPhase 4, Phase 3, Phase 1, Phase 28496
33Anti-Inflammatory Agents, Non-SteroidalPhase 4, Phase 3, Phase 1, Phase 23549
34Anti-Inflammatory AgentsPhase 4, Phase 3, Phase 2, Phase 18478
35Analgesics, Non-NarcoticPhase 4, Phase 3, Phase 1, Phase 25184
36
Epoetin alfaapprovedPhase 3, Phase 2626113427-24-0
Synonyms:
Epogen
 
Erythropoietin precursor
Procrit
37
Riluzoleapproved, investigationalPhase 3, Phase 2591744-22-55070
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 Hydrochloride
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
38
Bevacizumabapproved, investigationalPhase 3, Phase 1, Phase 21875216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
39
RanibizumabapprovedPhase 3, Phase 1, Phase 2460347396-82-1459903
Synonyms:
347396-82-1
D05697
Lucentis
Lucentis (TN)
 
Ranibizumab
Ranibizumab (USAN/INN)
Ranibizumab (genetical recombination)
Ranibizumab (genetical recombination) (JAN)
ranibizumab
rhuFab V2
40
EplerenoneapprovedPhase 2, Phase 389107724-20-9150310, 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
Folic Acidapproved, nutraceuticalPhase 2, Phase 3, Phase 1292459-30-36037
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
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
42Complement System ProteinsPhase 2, Phase 3, Phase 1190
43HematinicsPhase 3, Phase 21121
44Ophthalmic SolutionsPhase 2, Phase 3, Phase 11006
45Hormone AntagonistsPhase 3, Phase 210002
46Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 3, Phase 29988
47HormonesPhase 3, Phase 211748
48
CurcuminPhase 3124458-37-7969516
Synonyms:
1,7-Bis(4-hydroxy-3-methoxyphenyl)-1,6-heptadiene-3,5-dione
1,7-Bis(4-hydroxy-3-methoxyphenyl)hepta-1,6-diene-3,5-dione
1,9-Bis(4-hydroxy-3-methoxyphenyl)-2,7-nonadiene-4,6-dione
C.I. Natural Yellow 3
CI Natural Yellow 3
Cucurmin
Curcuma
Curcumin
Curcumin I
Diferaloylmethane
Diferuloylmethane
Gelbwurz
Golden seal
Haidr
Halad
Haldar
Halud
Hydrastis
 
Indian saffron
Indian turmeric
Kacha haldi
Kurkumin [czech]
Merita earth
Natural yellow 3
Orange root
Safran D'inde
Souchet
Terra merita
Tumeric yellow
Turmeric
Turmeric (>98% curcurmin)
Turmeric oleoresin (79%-85% curcumin)
Turmeric yellow
Yellow ginger
Yellow puccoon
Yellow root
Yo-kin
Zlut prirodni 3 [Czech]
49glucocorticoidsPhase 3, Phase 23896
50Neuroprotective AgentsPhase 2, Phase 3, Phase 11376

Interventional clinical trials:

(show top 50)    (show all 113)
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®)STARTRecruitingNCT02246829Phase 4
7A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON)CompletedNCT00528151Phase 3
8Lipoic Acid for Secondary Progressive Multiple Sclerosis (MS)CompletedNCT01188811Phase 2, Phase 3
9Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 MutationRecruitingNCT02652780Phase 3
10Treatment of Optic Neuritis With Erythropoietin: a Randomised, Double-blind, Placebo-controlled TrialRecruitingNCT01962571Phase 3
11Phase II/III Study of the Efficacy and Safety of MacuCLEAR MC-1101 in Treating DryAge-Related Macular DegenerationRecruitingNCT02127463Phase 2, Phase 3
12A 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
13Physiopathological Study and Pharmacological Modulation of Cutaneous Atrophy's Markers Induced by GlucocorticoidsActive, not recruitingNCT00709579Phase 3
14A Study of the Beneficial Effects of Eplerenone on Central Serous ChorioretinopathyNot yet recruitingNCT02215330Phase 2, Phase 3
15Safety and Effectiveness Investigation for Dry, Non-Exudative Age Related Macular Degeneration (AMD) Using RheopheresisSuspendedNCT00460967Phase 3
16Geographic Atrophy Treatment EvaluationTerminatedNCT00890097Phase 3
17Efficacy and Safety Study of MC-1101 1% TID in the Treatment of Nonexudative Age-Related Macular DegenerationTerminatedNCT01601483Phase 2, Phase 3
18Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS)TerminatedNCT00211224Phase 3
19Safety and Efficacy Study of BCD-021 Compared to Lucentis® in Patients With Neovascular Wet Age-related Macular DegenerationWithdrawnNCT02036723Phase 3
20Study to Assess Efficacy,Safety and Tolerability of Idebenone in the Treatment of Leber's Hereditary Optic NeuropathyCompletedNCT00747487Phase 2
21Safety and Efficacy of Brimonidine Intravitreal Implant in Patients With Geographic Atrophy Due to Age-related Macular Degeneration (AMD)CompletedNCT00658619Phase 2
22Safety and Efficacy Study of Erythropoietin as add-on Therapy of Methylprednisolone to Treat Acute Optic NeuritisCompletedNCT00355095Phase 2
23Sirolimus for Advanced Age-Related Macular DegenerationCompletedNCT01445548Phase 1, Phase 2
24Pilot Study of the Evaluation of Subconjunctival Sirolimus in the Treatment of Bilateral GA Associated With AMDCompletedNCT00766649Phase 1, Phase 2
25A Study of an Encapsulated Cell Technology (ECT) Implant for Patients With Atrophic Macular DegenerationCompletedNCT00447954Phase 2
26A Study of MTP-131 Topical Ophthalmic Solution in Subjects With Diabetic Macular Edema and Non-Exudative Intermediate Age-related Macular DegenerationCompletedNCT02314299Phase 1, Phase 2
27Study of Human Central Nervous System Stem Cells (HuCNS-SC) in Age-Related Macular Degeneration (AMD)CompletedNCT01632527Phase 1, Phase 2
28To Evaluate the Pharmacodynamics, Safety, and Pharmacokinetics of Pazopanib Drops in Adult Subjects With Neovascular AMDCompletedNCT00612456Phase 2
29Toronto and Oak Ridge Photobiomodulation Study for Dry Age Related Macular DegenerationCompletedNCT00940407Phase 2
30Study of Fenretinide in the Treatment of Geographic Atrophy Associated With Dry Age-Related Macular DegenerationCompletedNCT00429936Phase 2
31A Study Investigating the Safety, Tolerability, and Efficacy of Elamipretide (MTP-131) Topical Ophthalmic Solution for the Treatment of Leber's Hereditary Optic NeuropathyRecruitingNCT02693119Phase 2
32Study the Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Optic Nerve DiseaseRecruitingNCT01834079Phase 1, Phase 2
33Study of Subretinal Implantation of Human Embryonic Stem Cell-Derived RPE Cells in Advanced Dry AMDRecruitingNCT02590692Phase 1, Phase 2
34A Safety and Efficacy Study of Brimonidine Intravitreal Implant in Geographic Atrophy Secondary to Age-related Macular DegenerationRecruitingNCT02087085Phase 2
35Amiloride Hydrochlorothiazide as Treatment of Acute Inflammation of the Optic NerveRecruitingNCT01879527Phase 2
36Evaluation of Oral Minocycline in the Treatment of Geographic Atrophy Associated With Age-Related Macular DegenerationRecruitingNCT02564978Phase 2
37CLG561 Proof-of-Concept Study as a Monotherapy and in Combination With LFG316 in Subjects With Geographic Atrophy (GA)RecruitingNCT02515942Phase 2
38BioCurrent Electrical Stimulation for the Treatment of Dry ARMDRecruitingNCT02699216Phase 1, Phase 2
39Alpha Lipoic Acid in Geographic AtrophyRecruitingNCT02613572Phase 1, Phase 2
40A Study to Evaluate the Safety and Clinical Response of Subretinal Administration of CNTO 2476 in Participants With Geographic AtrophyRecruitingNCT02659098Phase 2
41Efficacy, Safety and Tolerability of Andrographolides Versus Placebo in Patients With Progressive Forms of MSRecruitingNCT02273635Phase 1, Phase 2
42Research With Retinal Cells Derived From Stem Cells for Myopic Macular DegenerationRecruitingNCT02122159Phase 1, Phase 2
43Prophylactic Ranibizumab for Exudative Age-related Macular DegenerationRecruitingNCT02140151Phase 1, Phase 2
44Pilot 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)RecruitingNCT00745511Phase 1, Phase 2
45MS-SMART: Multiple Sclerosis-Secondary Progressive Multi-Arm Randomisation TrialRecruitingNCT01910259Phase 2
46Tools to Optimize Patient Presentation After Onset of Exudative Age-Related Macular Degeneration (AMD)RecruitingNCT01337414Phase 2
47Safety and Efficacy Study of OpRegen for Treatment of Advanced Dry-Form Age-Related Macular DegenerationRecruitingNCT02286089Phase 1, Phase 2
48Safety Study of Use of Autologous Bone Marrow Derived Stem Cell in Treatment of Age Related Macular DegenerationRecruitingNCT02016508Phase 1, Phase 2
49Safety Evaluation of Gene Therapy in Leber Hereditary Optic Neuropathy (LHON) PatientsActive, not recruitingNCT02064569Phase 1, Phase 2
50A Safety Study of CNTO 2476 in Patients With Age-Related Macular DegenerationActive, not recruitingNCT01226628Phase 1, Phase 2

Search NIH Clinical Center for Optic Atrophy 1

Genetic Tests for Optic Atrophy 1

About this section

Genetic tests related to Optic Atrophy 1:

id Genetic test Affiliating Genes
1 Optic Atrophy Type 122 OPA1

Anatomical Context for Optic Atrophy 1

About this section

MalaCards organs/tissues related to Optic Atrophy 1:

33
Retina, Eye, Bone, Skin, Bone marrow, Lung, Kidney

Animal Models for Optic Atrophy 1 or affiliated genes

About this section

MGI Mouse Phenotypes related to Optic Atrophy 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.1CYCS, DNM3, MFN2, OPA1
2MP:00053867.8CYCS, DNM3, MFN2, OPA1

Publications for Optic Atrophy 1

About this section

Articles related to Optic Atrophy 1:

idTitleAuthorsYear
1
A toe that pointed the wrong way: An unusual presentation of tetanus. (26933367)
2016
2
The epidemic of prescription opioid abuse, the subsequent rising prevalence of heroin use, and the federal response. (26095479)
2015
3
Rheumatoid Arthritis-Associated MicroRNA-155 Targets SOCS1 and Upregulates TNF-I+ and IL-1I^ in PBMCs. (24351865)
2013
4
Mitochondrial fatty acid transport enzyme deficiency--implications for in vitro fertilization. (19362304)
2009
5
Hand, foot and mouth disease in Singapore: a comparison of fatal and non-fatal cases. (14632332)
2003

Variations for Optic Atrophy 1

About this section

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

67 (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:

5 (show all 34)
id Gene Variation Type Significance SNP ID Assembly Location
1OPA1NM_015560.2(OPA1): c.533T> A (p.Leu178Ter)single nucleotide variantPathogenicrs727504058GRCh37Chr 3, 193335051: 193335051
2OPA1NM_015560.2(OPA1): c.870+1G> Asingle nucleotide variantPathogenicrs727504059GRCh37Chr 3, 193355071: 193355071
3OPA1NM_015560.2(OPA1): c.1187T> G (p.Leu396Arg)single nucleotide variantPathogenicrs727504060GRCh38Chr 3, 193643419: 193643419
4OPA1NM_015560.2(OPA1): c.2883A> C (p.Ter961Tyr)single nucleotide variantLikely pathogenicrs143929819GRCh37Chr 3, 193409916: 193409916
5OPA1NM_015560.2(OPA1): c.1199C> T (p.Pro400Leu)single nucleotide variantLikely 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)deletionPathogenicrs794727345GRCh38Chr 3, 193657125: 193657126
8OPA1NM_015560.2(OPA1): c.2496+1G> Tsingle nucleotide variantPathogenicrs794727392GRCh37Chr 3, 193380752: 193380752
9OPA1NM_015560.2(OPA1): c.2569C> T (p.Arg857Ter)single nucleotide variantPathogenicrs794727405GRCh37Chr 3, 193382741: 193382741
10OPA1NM_015560.2(OPA1): c.635_636delAA (p.Lys212Argfs)deletionPathogenicrs794727804GRCh37Chr 3, 193349411: 193349412
11OPA1NM_015560.2(OPA1): c.1065+1G> Tsingle nucleotide variantPathogenicrs80356528GRCh37Chr 3, 193360635: 193360635
12OPA1NM_015560.2(OPA1): c.2131C> T (p.Arg711Ter)single nucleotide variantLikely pathogenicrs863224906GRCh37Chr 3, 193374986: 193374986
13OPA1NM_015560.2(OPA1): c.728T> A (p.Leu243Ter)single nucleotide variantPathogenicrs863225274GRCh37Chr 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)single nucleotide variantPathogenicrs863225276GRCh37Chr 3, 193361223: 193361223
16OPA1NM_015560.2(OPA1): c.1310A> G (p.Gln437Arg)single nucleotide variantPathogenicrs863225277GRCh37Chr 3, 193361414: 193361414
17OPA1NM_015560.2(OPA1): c.899G> A (p.Gly300Glu)single nucleotide variantPathogenicrs28939082GRCh37Chr 3, 193355769: 193355769
18OPA1OPA1, IVS9AS, G-A, -1single nucleotide variantPathogenic
19OPA1NM_015560.2(OPA1): c.2708_2711delTTAG (p.Val903Glyfs)deletionPathogenicrs80356530GRCh37Chr 3, 193384959: 193384962
20OPA1OPA1, 4-BP DEL, 2823AGTTdeletionPathogenic
21OPA1NM_015560.2(OPA1): c.869G> A (p.Arg290Gln)single nucleotide variantPathogenicrs121908375GRCh37Chr 3, 193355069: 193355069
22OPA1NM_015560.2(OPA1): c.1096C> T (p.Arg366Ter)single nucleotide variantPathogenicrs104893753GRCh37Chr 3, 193360794: 193360794
23OPA1OPA1, 3-BP DEL, 1296CATdeletionPathogenic
24OPA1NM_015560.2(OPA1): c.1146A> G (p.Ile382Met)single nucleotide variantPathogenicrs143319805GRCh37Chr 3, 193361167: 193361167
25OPA1OPA1, 1-BP DEL, 1354GdeletionPathogenic
26OPA1NM_015560.2(OPA1): c.2826delT (p.Arg943Glufs)deletionPathogenicrs80356531GRCh37Chr 3, 193409859: 193409859
27OPA1NM_015560.2(OPA1): c.1334G> A (p.Arg445His)single nucleotide variantPathogenicrs80356529GRCh37Chr 3, 193361785: 193361785
28OPA1OPA1, 2-BP DEL, 2848GAdeletionPathogenic
29NM_130837.2(OPA1): c.740G> A (p.Arg247His)single nucleotide variantPathogenicrs138350727GRCh37Chr 3, 193343942: 193343942
30OPA1NM_015560.2(OPA1): c.1352delT (p.Leu451Trpfs)deletionPathogenicrs398124297GRCh37Chr 3, 193361803: 193361803
31OPA1NM_015560.2(OPA1): c.1635C> A (p.Ser545Arg)single nucleotide variantPathogenicrs398124298GRCh37Chr 3, 193364899: 193364899
32OPA1NM_015560.2(OPA1): c.1669C> T (p.Arg557Ter)single nucleotide variantPathogenicrs398124299GRCh37Chr 3, 193364933: 193364933
33OPA1NM_015560.2(OPA1): c.2257C> T (p.Gln753Ter)single nucleotide variantPathogenicrs398124301GRCh37Chr 3, 193376766: 193376766
34OPA1NM_015560.2(OPA1): c.983A> G (p.Lys328Arg)single nucleotide variantPathogenicrs398124303GRCh38Chr 3, 193638064: 193638064

Expression for genes affiliated with Optic Atrophy 1

About this section
Search GEO for disease gene expression data for Optic Atrophy 1.

Pathways for genes affiliated with Optic Atrophy 1

About this section

GO Terms for genes affiliated with Optic Atrophy 1

About this section

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial outer membraneGO:00057419.5MFN2, OPA1

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrion organizationGO:00070059.5CYCS, OPA1
2apoptotic processGO:00069158.7CYCS, MFN2, OPA1

Sources for Optic Atrophy 1

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet