DOA+
MCID: OPT055
MIFTS: 52

Optic Atrophy Plus Syndrome (DOA+) malady

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

Aliases & Classifications for Optic Atrophy Plus Syndrome

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Aliases & Descriptions for Optic Atrophy Plus Syndrome:

Name: Optic Atrophy Plus Syndrome 52
Optic Atrophy 11 27 50 39 13 68
Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 68
Optic Atrophy with or Without Deafness Ophthalmoplegia Myopathy Ataxia and Neuropathy 70
 
Dominant Optic Atrophy Plus Syndrome 70
3-Methylglutaconic Aciduria Type 3 68
Atrophy of Optic Disc 11
Doa+ 70

Characteristics:

HPO:

64
optic atrophy plus syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM52 125250
Disease Ontology11 DOID:5723
ICD9CM32 377.1, 377.10
NCIt45 C34863

Summaries for Optic Atrophy Plus Syndrome

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OMIM:52 Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an... (125250) more...

MalaCards based summary: Optic Atrophy Plus Syndrome, also known as optic atrophy, is related to optic atrophy 1 and leber optic atrophy, and has symptoms including ataxia, muscle spasticity and abnormality of extrapyramidal motor function. An important gene associated with Optic Atrophy Plus Syndrome is OPA1 (OPA1, Mitochondrial Dynamin Like GTPase), and among its related pathways is Glucose / Energy Metabolism. Affiliated tissues include eye, and related mouse phenotypes are muscle and vision/eye.

UniProtKB/Swiss-Prot:70 Dominant optic atrophy plus syndrome: A neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes.

Related Diseases for Optic Atrophy Plus Syndrome

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Diseases in the Primary Optic Atrophy family:

Optic Atrophy 1 optic atrophy plus syndrome
Optic Atrophy 6 Optic Atrophy 7
Optic Atrophy 4 Optic Atrophy 5
Optic Atrophy 8 Optic Atrophy 2
Autosomal Dominant Optic Atrophy Plus Syndrome Optic Atrophy Type 9
Optic Atrophy 11

Diseases related to Optic Atrophy Plus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1optic atrophy 112.5
2leber optic atrophy12.5
3glaucomatous atrophy of optic disc12.1
4autosomal dominant optic atrophy plus syndrome12.1
53-methylglutaconic aciduria, type iii11.4
6optic atrophy 3 with cataract11.2
7megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 110.3OPA3, PMPCA
8charcot-marie-tooth disease, type 2a210.3C12orf65, MFN2
9status asthmaticus10.3MT-ND4, OPA1, TMEM126A
10lentigo maligna melanoma10.2MT-ND4, MT-ND6
11hereditary motor and sensory neuropathy via10.2C12orf65, MFN2
12uterine ligament serous adenocarcinoma10.2MFN2, MT-ND4, MT-ND6
13mucinous intrahepatic cholangiocarcinoma10.2C12orf65, MT-ND4, MT-ND6
14wolfram-like syndrome, autosomal dominant10.2BAMBI, CISD2, WFS1
153-m syndrome 310.2OPA3, PMPCA
16ovarian stromal hyperthecosis10.2C12orf65, C19orf12, MFN2
17median arcuate ligament syndrome10.2ANTXR1, MFF
18brachymorphism-onychodysplasia-dysphalangism syndrome10.2C12orf65, C19orf12, OPA1, OPA3
19myoclonic epilepsy associated with ragged-red fibers10.2MFF, MT-ND4, MT-ND6
20nkx2-1-related disorders10.2MFF, MT-ND4, MT-ND6, OPA1
21fibrosis of extraocular muscles, congenital, 3a10.1MFN1, MFN2, OPA1, YME1L1
22lrp5-related familial exudative vitreoretinopathy, autosomal dominant10.1C12orf65, OPA3
23alopecia, androgenetic, 210.0MT-ND4, MT-ND6, OPA1, OPA3, OPN4, TMEM126A
24nerve fibre bundle defect9.9ANTXR1, DNM1L, MFN1, MFN2, MT-ND4, MT-ND6
25allergic contact dermatitis of eyelid9.7ANTXR1, BTD, DNM1L, MFN1, MFN2, MT-ND4
263-methylglutaconic aciduria9.7
27spinocerebellar ataxia, autosomal recessive 158.8ANTXR1, ATP1A3, BAMBI, BTD, C12orf65, C19orf12

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



Diseases related to optic atrophy plus syndrome

Symptoms & Phenotypes for Optic Atrophy Plus Syndrome

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Symptoms by clinical synopsis from OMIM:

125250

Clinical features from OMIM:

125250

Human phenotypes related to Optic Atrophy Plus Syndrome:

 64 (show all 18)
id Description HPO Frequency HPO Source Accession
1 progressive sensorineural hearing impairment64 HP:0000408
2 strabismus64 HP:0000486
3 visual impairment64 HP:0000505
4 ptosis64 HP:0000508
5 tritanomaly64 HP:0000552
6 centrocecal scotoma64 HP:0000576
7 ophthalmoplegia64 HP:0000602
8 central scotoma64 HP:0000603
9 red-green dyschromatopsia64 HP:0000642
10 optic atrophy64 HP:0000648
11 abnormal amplitude of pattern reversal visual evoked potentials64 HP:0000650
12 horizontal nystagmus64 HP:0000666
13 ataxia64 HP:0001251
14 myopathy64 HP:0003198
15 increased variability in muscle fiber diameter64 HP:0003557
16 abnormal auditory evoked potentials64 HP:0006958
17 reduced visual acuity64 HP:0007663
18 peripheral neuropathy64 HP:0009830

UMLS symptoms related to Optic Atrophy Plus Syndrome:


ataxia, muscle spasticity, abnormality of extrapyramidal motor function, ophthalmoplegia

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.5ATP1A3, BTD, CISD2, DNM1L, MFN2, OPA1
2MP:00053919.0BTD, CISD2, DNM1L, MT-ND6, OPA1, OPA3
3MP:00053849.0ANTXR1, CISD2, DNM1L, MFN1, MFN2, MT-ND6
4MP:00053868.9ATP1A3, BAMBI, BTD, CISD2, DNM1L, MFN1
5MP:00053788.7ANTXR1, ATP1A3, BAMBI, BTD, CISD2, DNM1L

Drugs & Therapeutics for Optic Atrophy Plus Syndrome

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

(show top 50)    (show all 236)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
RanibizumabapprovedPhase 4, Phase 3, Phase 1, Phase 2486347396-82-1459903
Synonyms:
347396-82-1
D05697
Lucentis
Lucentis (TN)
 
Ranibizumab
Ranibizumab (USAN/INN)
Ranibizumab (genetical recombination)
Ranibizumab (genetical recombination) (JAN)
ranibizumab
rhuFab V2
2
Acetylcysteineapproved, investigationalPhase 4, Phase 2, Phase 3330616-91-112035
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-acetylcysteine
L-α-acetamido-β-mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetyl-L-(+)-cysteine
N-acetyl-L-cysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
3
Pimecrolimusapproved, investigationalPhase 463137071-32-06447131, 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
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
Tacrolimusapproved, investigationalPhase 4, Phase 21102104987-11-3445643, 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
6Idebenoneapproved, investigationalPhase 4, Phase 3, Phase 22158186-27-9
7
Lansoprazoleapproved, investigationalPhase 4218103577-45-33883
Synonyms:
103577-45-3
2-(((3-Methyl-4-(2,2,2-trifluoroethoxy)-2-pyridinyl)methyl)sulfinyl)-1H-benzimidazole
2-(((3-Methyl-4-(2,2,2-trifluoroethoxy)-2-pyridyl)methyl)sulfinyl)benzimidazole
2-(((3-methyl-4-(2,2,2-trifluoroethoxy)-2-pyridyl)methyl)sulfinyl)-1H-benzimidazole
2-({[3-methyl-4-(2,2,2-trifluoroethoxy)pyridin-2-yl]methyl}sulfinyl)-1H-benzimidazole
2-[({3-methyl-4-[(2,2,2-trifluoroethyl)oxy]pyridin-2-yl}methyl)sulfinyl]-1H-benzimidazole
2-[[3-methyl-4-(2,2,2-trifluoroethoxy)pyridin-2-yl]methylsulfinyl]-1H-benzimidazole
2-[[[3-methyl-4-(2,2,2-trifluoroethoxy)-2-pyridyl] methyl] sulfinyl] benzimidazole
2-[[[3-methyl-4-(2,2,2-trifluroethoxy)-2-pyridyl]methyl]sulfinyl]benzimidazole
A 65006
A-65006
AB00052388
ABT-006
AC1L1GX8
AG 1749
AG-1749
Abbot Brand of Lansoprazole
Agopton
Almirall Brand of Lansoprazole
Amarin
Aprazol
BIDD:GT0006
BPBio1_001194
BRD-A49172652-001-05-7
BRN 4333393
BSPBio_001084
BSPBio_001830
Bamalite
Bio-0824
Biuret
Biuret Gr
Biuret Reagent
Biuret Reagent Solution
Blason
C058687
C16H14F3N3O2S
CAS-103577-45-3
CG-4801
CHEBI:6375
CHEMBL480
CID3883
CPD000058469
Compraz
D00355
DB00448
Dakar
DivK1c_000920
EU-0100709
FT-0082011
HMS1571G06
HMS1922M04
HMS2052F05
HMS2093M07
HMS502N22
HSDB 7204
Hoechst Brand of Lansoprazole
Hormona Brand of Lansoprazole
I06-0018
IDI1_000920
Ilsatec
KBio1_000920
KBio2_002060
KBio2_004628
KBio2_007196
KBio3_001330
KBioGR_001491
KBioSS_002060
Ketian
L 8533
L8533_SIGMA
LS-33080
Lancid
Lanfast
Lanproton
Lansopep
Lansophed
Lansoprazol
Lansoprazol [INN-Spanish]
Lansoprazole
Lansoprazole (JAN/USP/INN)
Lansoprazole [USAN:BAN:INN]
Lansoprazole [Usan:Ban:Inn]
Lansoprazolum
Lansoprazolum [INN-Latin]
Lansox
Lanston
 
Lanz
Lanzo
Lanzol
Lanzol-30
Lanzopral
Lanzor
Lanzul
Lapraz
Lasoprol
Lederle Brand of Lansoprazole
Limpidex
Linamarin
Lopac-L-8533
Lopac0_000709
MLS-0003247.0001
MLS000069705
MLS000759405
MLS001074170
Mesactol
MolPort-003-666-508
MolPort-006-394-760
Monolitum
NCGC00015615-01
NCGC00015615-02
NCGC00015615-03
NCGC00015615-06
NCGC00015615-11
NCGC00023826-03
NCGC00023826-04
NCGC00023826-05
NCGC00023826-06
NCGC00023826-07
NINDS_000920
Ogast
Ogastro
Opiren
Prestwick0_001072
Prestwick1_001072
Prestwick2_001072
Prestwick3_001072
PrevOnco
Prevacid
Prevacid (TN)
Prevacid I.V
Prevacid I.V.
Prevacid Iv
Prevacid SoluTab
Prevacid Solutab
Prevacid, Prevacid NapraPAC, Prevacid SoluTab, Lansoprazole
Prevpac
Prezal
Pro Ulco
Promeco
Promeco Brand of Lansoprazole
Promp
Prosogan
S1354_Selleck
SAM001246544
SMR000058469
SPBio_000488
SPBio_002992
SPECTRUM1503926
STK621169
Salvar Brand of Lansoprazole
Spectrum2_000444
Spectrum3_000295
Spectrum4_000856
Spectrum5_001521
Spectrum_001580
Suprecid
TAK 390MR
TAK-390MR
TAK390MR
TAP Brand of Lansoprazole
TL8000155
Takeda Brand of Lansoprazole
Takepron
Tecnobio Brand of Lansoprazole
UNII-0K5C5T2QPG
Ulpax
Vinas Brand of Lansoprazole
Wyeth Brand of Lansoprazole
Zoprol
Zoton
lansoprazole
lansoprazole sulphone
lanzoprazole
8
AcetylcholineapprovedPhase 480551-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
9
Cholineapproved, nutraceuticalPhase 415462-49-7305
Synonyms:
(2-Hydroxyethyl)trimethyl ammonium
(2-Hydroxyethyl)trimethylammonium
(beta-hydroxyethyl)trimethylammonium
2-Hydroxy-N,N,N-trimethyl-ethanaminium
2-Hydroxy-N,N,N-trimethylethanaminium
Bilineurine
Biocolina
Biocoline
Choline
Choline cation
 
Choline ion
Cholinum
Hepacholine
Hormocline
Lipotril
N,N,N-Trimethylethanol-ammonium
N,N,N-Trimethylethanolammonium
N,N,N-trimethylethanol-ammonium
N-trimethylethanolamine
Neocolina
Paresan
trimethylethanolamine
10Antirheumatic AgentsPhase 4, Phase 3, Phase 2, Phase 110956
11Calcineurin InhibitorsPhase 4, Phase 21622
12Anti-Inflammatory AgentsPhase 4, Phase 3, Phase 2, Phase 110729
13AnalgesicsPhase 4, Phase 3, Phase 1, Phase 211733
14Dermatologic AgentsPhase 4, Phase 25806
15Analgesics, Non-NarcoticPhase 4, Phase 3, Phase 1, Phase 26501
16Antiviral AgentsPhase 4, Phase 2, Phase 3, Phase 19967
17Peripheral Nervous System AgentsPhase 4, Phase 3, Phase 1, Phase 223689
18Angiogenesis Modulating AgentsPhase 4, Phase 3, Phase 1, Phase 24185
19Anti-Inflammatory Agents, Non-SteroidalPhase 4, Phase 3, Phase 1, Phase 24443
20Anti-Infective AgentsPhase 4, Phase 2, Phase 3, Phase 122062
21Angiogenesis InhibitorsPhase 4, Phase 3, Phase 1, Phase 24257
22Pharmaceutical SolutionsPhase 4, Phase 2, Phase 3, Phase 18192
23Immunosuppressive AgentsPhase 4, Phase 2, Phase 113086
24Gastrointestinal AgentsPhase 4, Phase 28402
25abobotulinumtoxinAPhase 4652
26
DexlansoprazolePhase 4218138530-94-6, 103577-45-39578005
Synonyms:
138530-94-6
CHEMBL1201863
CID9578005
D08903
Dexlansoprazole (INN/USAN)
KS-1075
 
Kapidex
MolPort-002-885-834
T 168390
TAK 390
UNII-UYE4T5I70X
ZINC00599734
dexlansoprazole
27Anti-Ulcer AgentsPhase 41842
28AntacidsPhase 41842
29
Proton pump inhibitorsPhase 41123
Synonyms:
 
PPIs
30Neuromuscular AgentsPhase 4, Phase 1, Phase 21180
31Neurotransmitter AgentsPhase 4, Phase 3, Phase 218340
32incobotulinumtoxinAPhase 4662
33Cholinergic AgentsPhase 43992
34Respiratory System AgentsPhase 4, Phase 2, Phase 3, Phase 14997
35onabotulinumtoxinAPhase 4652
36Botulinum ToxinsPhase 4697
37N-monoacetylcystinePhase 4, Phase 2, Phase 3330
38Protective AgentsPhase 4, Phase 2, Phase 3, Phase 17443
39ExpectorantsPhase 4, Phase 2, Phase 3404
40AntioxidantsPhase 4, Phase 3, Phase 2, Phase 13050
41AntidotesPhase 4, Phase 2, Phase 31071
42Botulinum Toxins, Type APhase 4657
43Nootropic AgentsPhase 4716
44Cytidine Diphosphate CholinePhase 430
45
Bimatoprostapproved, investigationalPhase 3133155206-00-15311027
Synonyms:
(5Z)-7-{(1R,2R,3R,5S)-3,5-dihydroxy-2-[(1E,3S)-3-hydroxy-5-phenylpent-1-en-1-yl]cyclopentyl}-N-ethylhept-5-enamide
(Z)-7-((1R,2R,3R,5S)-3,5-Dihydroxy-2-((1E,3S)-3-hydroxy-5-phenyl-1-pentenyl)cyclopentyl)-N-ethyl-5-heptenamide
(Z)-7-((1R,2R,3R,5S)-3,5-Dihydroxy-2-((1e,3S)-3-hydroxy-5-phenyl-1-pentenyl)cyclopentyl)-N-ethyl-5-heptenamide
(Z)-7-[(1R,2R,3R,5S)-3,5-dihydroxy-2-[(E,3S)-3-hydroxy-5-phenylpent-1-enyl]cyclopentyl]-N-ethylhept-5-enamide
155206-00-1
15M
267244-98-4
5-Heptenamide,7-((1R,2R,3R,5S)-3,5-dihydroxy-2-((1E,3S)-3-hydroxy-5-phenyl-1-pentenyl)cyclopentyl)-N-ehtyl-,(5Z)
AC1NSJUW
AGN 192024
AGN-192024
Bimataprost [USAN:INN:BAN]
Bimatoprost
Bimatoprost (JAN/USAN/INN)
Bimatoprost [USAN:INN:BAN]
Bimatoprostum
 
CHEBI:39562
CHEBI:51230
CHEMBL1200963
CID5311027
D02724
DB00905
DB06863
I06-1275
I06-1277
LS-181817
Latisse
Lumigan
Lumigan (TN)
NCGC00181745-01
UNII-QXS94885MZ
ZINC04474405
bimatoprostum
46
Bevacizumabapproved, investigationalPhase 3, Phase 1, Phase 22020216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
47
Doxycyclineapproved, investigational, vet_approvedPhase 2, Phase 3243564-25-054671203
Synonyms:
(2E,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(4S,4aR,5S,5aR,6R,12aS)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
10597-92-9
17086-28-1 (mono-hydrate)
2-Naphthacenecarboxamide, 4-(dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-, (4S,4aR,5S,5aR,6R,12aS)
24390-14-5
41411-66-9 (6-epimer, mono-hydrochloride)
5-Hydroxy-alpha-6-deoxytetracycline
5-hydroxy-α-6-deoxytetracycline
564-25-0
6-Deoxyoxytetracycline
6-Deoxytetracycline
6-alpha-Deoxy-5-oxytetracycline
6-alpha-deoxy-5-oxytetracycline
69935-17-7 (mono-hydrochloride, di-hydrate)
6alpha-Deoxy-5-oxytetracycline
6alpha-deoxy-5-oxytetracycline
6α-deoxy-5-oxytetracycline
7164-70-7
7264-10-0
94088-85-4 (calcium salt (1:2))
AB08 (*Fosfatex)
AC1NQXW7
AC1NS4CW
AC1NUYS8
AC1O8PYM
Alti-Doxycycline
Anhydrous doxycycline
Apo-Doxy
Atridox
Azudoxat
BCBcMAP01_000024
BIDD:GT0146
BMY-28689
BPBio1_000951
BSPBio_000863
BSPBio_001936
BU-3839T
C06973
CHEBI:50845
CHEMBL1433
CID5281011
CID5353597
CID5463943
CID6713981
CPD001550033
D07876
DB00254
DMSC (*Fosfatex)
DOXCYCLINE ANHYDROUS
DOXY
DOXYCYCLINE CALCIUM
DOXYCYCLINE MONOHYDRATE
Deoxymykoin
DivK1c_000345
Dossiciclina
Dossiciclina [DCIT]
Doxcycline anhydrous
Doxiciclina
Doxiciclina [INN-Spanish]
Doxiciclina [Italian]
Doxitard
Doxivetin
Doxy-Caps
Doxy-Puren
Doxy-Tabs
Doxycen
Doxychel
Doxychel (TN)
Doxycin
Doxycyclin
Doxycycline (200mg/day) or Placebo
 
Doxycycline (INN)
Doxycycline (TN)
Doxycycline (anhydrous)
Doxycycline (internal use)
Doxycycline Hyclate
Doxycycline Monohydrate
Doxycycline anhydrous
Doxycycline hyclate
Doxycycline-Chinoin
Doxycyclinum
Doxycyclinum [INN-Latin]
Doxysol
Doxytec
Doxytetracycline
EINECS 209-271-1
GS-3065 (*monohydrate)
HMS2090E06
HSDB 3071
Hydramycin
IDI1_000345
Investin
Jenacyclin
KBio1_000345
KBio2_001287
KBio2_003855
KBio2_006423
KBio3_001156
KBioGR_001133
KBioSS_001287
LS-187766
LS-93868
Liviatin
Lopac0_000405
MolPort-002-507-423
Monodox
Monodox (*monohydrate)
NCGC00161602-01
NCGC00161602-03
NCGC00161602-04
NCGC00167961-01
NCGC00179395-01
NINDS_000345
NSC633557
Novo-Doxylin
Nu-Doxycycline
Oracea
Prestwick0_000852
Prestwick1_000852
Prestwick2_000852
Prestwick3_000852
Ronaxan
SAM002589932
SMP1_000107
SPBio_000246
SPBio_002784
STOCK1N-34341
Spanor
Spectrum2_000143
Spectrum3_000408
Spectrum4_000527
Spectrum5_000947
Spectrum_000807
Supracyclin
UNII-334895S862
UPCMLD-DP021
UPCMLD-DP021:001
Vibra-tabs
Vibramycin
Vibramycin (*monohydrate)
Vibramycin Novum
Vibramycine
Vibravenos
Vivox (*Hyclate)
alpha-6-Deoxy-5-hydroxytetracycline
alpha-6-Deoxyoxytetracycline
alpha-Doxycycline
doxycycline
48
MetforminapprovedPhase 2, Phase 31803657-24-914219, 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
49
Riluzoleapproved, investigationalPhase 3, Phase 2651744-22-55070
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
50
IronapprovedPhase 2, Phase 311657439-89-623925
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

Interventional clinical trials:

(show top 50)    (show all 244)
idNameStatusNCT IDPhase
1Upper Facial Remodeling With Perlane-L and DysportCompletedNCT01354743Phase 4
2Cystagon to Treat Infantile Neuronal Ceroid LipofuscinosisCompletedNCT00028262Phase 4
3Reconstitution With Pimecrolimus Cream 1% of Steroid-damaged Skin in Adults With Atopic DermatitisCompletedNCT00367393Phase 4
4Safety and Efficacy of Lansoprazole in Patients With Reflux DiseaseCompletedNCT01135368Phase 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
7Study to Assess the Efficacy and Safety of Raxone in LHON PatientsRecruitingNCT02774005Phase 4
8A Comparison of Ranibizumab and Aflibercept for the Development of Geographic Atrophy in (Wet) AMD PatientsRecruitingNCT02130024Phase 4
9Citicoline Effect on Non-arteritic Anterior Ischemic Optic Neuropathy (NAION)RecruitingNCT03046693Phase 4
10Comparison of Treatment Regimens Using Ranibizumab: Intensive (Resolution of Intra- and Sub-retinal Fluid) vs Relaxed (Resolution of Primarily Intra-retinal Fluid) Treatment.Active, not recruitingNCT01972789Phase 4
11Treatment of Soft Tissue Expansion in Inactive Thyroid Eye Disease Patients Using Drops of Prostaglandin AnaloguesUnknown statusNCT02155049Phase 3
12Phase II/III Study of the Efficacy and Safety of MacuCLEAR MC-1101 in Treating DryAge-Related Macular DegenerationUnknown statusNCT02127463Phase 2, Phase 3
13TTT Versus PDT for Treatment of Choroidal Neovascularization in Age-Related Macular DegenerationUnknown statusNCT00260403Phase 2, Phase 3
14Physiopathological Study and Pharmacological Modulation of Cutaneous Atrophy's Markers Induced by GlucocorticoidsUnknown statusNCT00709579Phase 3
15Vagus Nerve Stimulation to Augment Recovery From Minimally Conscious or Persistently Vegetative States After Traumatic Brain InjuryUnknown statusNCT01260090Phase 3
16A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON)CompletedNCT00528151Phase 3
17Complications of Age-Related Macular Degeneration Prevention TrialCompletedNCT00000167Phase 3
18Safety and Efficacy Assessment Treatment Trials of Emixustat HydrochlorideCompletedNCT01802866Phase 2, Phase 3
19Lipoic Acid for Secondary Progressive Multiple Sclerosis (MS)CompletedNCT01188811Phase 2, Phase 3
20Oculomotor Testing in the Differential Diagnosis of DementiaCompletedNCT01577394Phase 3
21Study to Evaluate the Safety and Efficacy of Davunetide for the Treatment of Progressive Supranuclear PalsyCompletedNCT01110720Phase 2, Phase 3
22Erythropoietin in Methanol Associated Optic Neuropathy: A Phase-2 Clinical Trial (EPO-MAON Study)RecruitingNCT02376881Phase 3
23Treatment of Optic Neuritis With Erythropoietin: a Randomised, Double-blind, Placebo-controlled TrialRecruitingNCT01962571Phase 3
24Safety and Efficacy Study of Gene Therapy for The Treatment of Leber's Hereditary Optic NeuropathyRecruitingNCT03153293Phase 2, Phase 3
25Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 MutationRecruitingNCT02652767Phase 3
26Clinical Study to Evaluate Treatment With ORACEA® for Geographic Atrophy (TOGA)RecruitingNCT01782989Phase 2, Phase 3
27Long-Term Safety of Lampalizumab Intravitreal (ITV) Injections in Participants With Geographic Atrophy (GA) Secondary to Age-Related Macular Degeneration (OMASPECT)RecruitingNCT02745119Phase 3
28A Study Investigating the Safety and Efficacy of Lampalizumab Intravitreal Injections in Patients With Geographic Atrophy Secondary to Age-Related Macular Degeneration (SPECTRI)RecruitingNCT02247531Phase 3
29A 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
30A Study Investigating the Efficacy and Safety of Lampalizumab Intravitreal Injections in Participants With Geographic Atrophy Secondary to Age-Related Macular Degeneration (CHROMA)RecruitingNCT02247479Phase 3
31Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 MutationActive, not recruitingNCT02652780Phase 3
32Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous GraftActive, not recruitingNCT02878694Phase 2, Phase 3
33Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based TherapyNot yet recruitingNCT02882477Phase 2, Phase 3
34A Study of the Beneficial Effects of Eplerenone on Central Serous ChorioretinopathyNot yet recruitingNCT02215330Phase 2, Phase 3
35Safety and Effectiveness Investigation for Dry, Non-Exudative Age Related Macular Degeneration (AMD) Using RheopheresisSuspendedNCT00460967Phase 3
36Geographic Atrophy Treatment EvaluationTerminatedNCT00890097Phase 3
37Omega 6:Omega 3 Ratio and Progression of Age-related Macular Degeneration (AMD).TerminatedNCT00987129Phase 3
38Efficacy and Safety Study of MC-1101 1% TID in the Treatment of Nonexudative Age-Related Macular DegenerationTerminatedNCT01601483Phase 2, Phase 3
39Modafinil to Treat Fatigue in Post-Polio SyndromeTerminatedNCT00067496Phase 3
40Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS)TerminatedNCT00211224Phase 3
41Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary Optic Neuropathy (LHON)WithdrawnNCT01495715Phase 3
42Safety and Efficacy Study of BCD-021 Compared to Lucentis® in Patients With Neovascular Wet Age-related Macular DegenerationWithdrawnNCT02036723Phase 3
43Study the Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Optic Nerve DiseaseUnknown statusNCT01834079Phase 1, Phase 2
44Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic NeuropathyUnknown statusNCT02176733Phase 2
45The OMEGA Study: Use of Eye Drops to Treat Geographic Atrophy Associated With Age-Related Macular Degeneration (Dry AMD)Unknown statusNCT00485394Phase 2
46Amiloride Hydrochlorothiazide as Treatment of Acute Inflammation of the Optic NerveUnknown statusNCT01879527Phase 2
47Pilot 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
48Tools to Optimize Patient Presentation After Onset of Exudative Age-Related Macular Degeneration (AMD)Unknown statusNCT01337414Phase 2
49Efficacy, Safety and Tolerability of Andrographolides Versus Placebo in Patients With Progressive Forms of MSUnknown statusNCT02273635Phase 1, Phase 2
50Safety Study of Use of Autologous Bone Marrow Derived Stem Cell in Treatment of Age Related Macular DegenerationUnknown statusNCT02016508Phase 1, Phase 2

Search NIH Clinical Center for Optic Atrophy Plus Syndrome


Cochrane evidence based reviews: optic atrophy

Genetic Tests for Optic Atrophy Plus Syndrome

About this section

Genetic tests related to Optic Atrophy Plus Syndrome:

id Genetic test Affiliating Genes
1 Optic Atrophy27

Anatomical Context for Optic Atrophy Plus Syndrome

About this section

MalaCards organs/tissues related to Optic Atrophy Plus Syndrome:

36
Eye

Publications for Optic Atrophy Plus Syndrome

About this section

Articles related to Optic Atrophy Plus Syndrome:

idTitleAuthorsYear
1
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. (11668429)
2001

Variations for Optic Atrophy Plus Syndrome

About this section

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

70
id Symbol AA change Variation ID SNP ID
1OPA1p.Arg445HisVAR_015741rs80356529
2OPA1p.Ser545ArgVAR_026533rs398124298
3OPA1p.Ala357ThrVAR_060836rs190223702
4OPA1p.Cys551TyrVAR_060851
5OPA1p.Tyr582CysVAR_060853rs121908376
6OPA1p.Gly439ValVAR_072127rs387906900
7OPA1p.Thr449ProVAR_072128
8OPA1p.Val910AspVAR_072132rs387906901

Clinvar genetic disease variations for Optic Atrophy Plus Syndrome:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1OPA1NM_ 015560.2(OPA1): c.1346delC (p.Thr449Lysfs)deletionLikely pathogenicrs794729196GRCh37Chr 3, 193361797: 193361797
2PMPCANM_ 015160.2(PMPCA): c.1129G> A (p.Ala377Thr)SNVPathogenicrs753611141GRCh38Chr 9, 136418847: 136418847
3PMPCANM_ 015160.2(PMPCA): c.1066G> A (p.Gly356Ser)SNVPathogenicrs768643552GRCh37Chr 9, 139313082: 139313082
4OPA1NM_ 130837.2(OPA1): c.1817G> A (p.Cys606Tyr)SNVPathogenicrs879255592GRCh37Chr 3, 193364916: 193364916
5OPA1NM_ 015560.2(OPA1): c.985-2A> GSNVPathogenicrs886041317GRCh37Chr 3, 193360552: 193360552
6OPA1NM_ 015560.2(OPA1): c.1294A> G (p.Ile432Val)SNVPathogenicrs387906899GRCh37Chr 3, 193361398: 193361398
7OPA1NM_ 130837.2(OPA1): c.1800C> G (p.Ser600Arg)SNVPathogenicrs398124298GRCh37Chr 3, 193364899: 193364899
8OPA1NM_ 015560.2(OPA1): c.1316G> T (p.Gly439Val)SNVPathogenicrs387906900GRCh37Chr 3, 193361767: 193361767
9OPA1NM_ 015560.2(OPA1): c.2729T> A (p.Val910Asp)SNVPathogenicrs387906901GRCh37Chr 3, 193384980: 193384980
10OPA1NM_ 015560.2(OPA1): c.1745A> G (p.Tyr582Cys)SNVPathogenicrs121908376GRCh37Chr 3, 193365898: 193365898
11OPA1NM_ 015560.2(OPA1): c.1334G> A (p.Arg445His)SNVPathogenicrs80356529GRCh37Chr 3, 193361785: 193361785
12OPA1NM_ 015560.2(OPA1): c.2848_ 2849delGA (p.Asp950Cysfs)deletionPathogenicrs879255513GRCh38Chr 3, 193692092: 193692093

Copy number variations for Optic Atrophy Plus Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11730603189400000193800000DeletionOPA1Optic atrophy

Expression for genes affiliated with Optic Atrophy Plus Syndrome

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Search GEO for disease gene expression data for Optic Atrophy Plus Syndrome.

Pathways for genes affiliated with Optic Atrophy Plus Syndrome

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Pathways related to Optic Atrophy Plus Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.4CISD2, MFN1, MFN2, OPA1, WFS1

GO Terms for genes affiliated with Optic Atrophy Plus Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1intrinsic component of mitochondrial outer membraneGO:003130610.8MFN1, MFN2
2mitochondrial membraneGO:003196610.5C19orf12, MT-ND4, MT-ND6
3mitochondrial inner membraneGO:000574310.0MT-ND4, MT-ND6, OPA1, PMPCA, TMEM126A, YME1L1
4mitochondrial outer membraneGO:00057419.8CISD2, DNM1L, MFF, MFN1, MFN2, OPA1
5integral component of membraneGO:00160217.8ANTXR1, ATP1A3, BAMBI, C19orf12, CISD2, MFF
6mitochondrionGO:00057397.6C12orf65, C19orf12, CISD2, DNM1L, MFF, MFN1
7membraneGO:00160207.4ANTXR1, ATP1A3, BAMBI, C19orf12, CISD2, DNM1L

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1dynamin family protein polymerization involved in mitochondrial fissionGO:000337410.8DNM1L, OPA1
2intracellular distribution of mitochondriaGO:004831210.8DNM1L, OPA1
3negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathwayGO:190223610.8OPA1, WFS1
4positive regulation of dendritic spine morphogenesisGO:006100310.7DNM1L, OPA1
5mitochondrial calcium ion transportGO:000685110.7PMPCA, YME1L1
6mitochondrial fragmentation involved in apoptotic processGO:004365310.7DNM1L, MFF
7peroxisome fissionGO:001655910.7DNM1L, MFF
8positive regulation of mitochondrial fissionGO:009014110.6DNM1L, MFF
9regulation of mitochondrion organizationGO:001082110.6DNM1L, MFF
10regulation of peroxisome organizationGO:190006310.6DNM1L, MFF
11release of cytochrome c from mitochondriaGO:000183610.6DNM1L, MFF
12mitochondrion localizationGO:005164610.6MFN1, MFN2
13mitochondrial fissionGO:000026610.5DNM1L, MFF, OPA1
14mitochondrion organizationGO:000700510.5DNM1L, OPA1, YME1L1
15mitochondrion morphogenesisGO:007058410.4DNM1L, MFF, OPA1, OPA3
16mitochondrial fusionGO:000805310.2MFF, MFN1, MFN2, OPA1
17visual perceptionGO:00076019.7OPA1, OPA3, OPN4, WFS1

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

idNameGO IDScoreTop Affiliating Genes
1GTPase activityGO:000392410.4DNM1L, MFN1, MFN2, OPA1
2hydrolase activityGO:00167878.8ATP1A3, BTD, DNM1L, MFN1, MFN2, OPA1

Sources for Optic Atrophy Plus Syndrome

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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