MCID: OPT055
MIFTS: 54

Optic Atrophy Plus Syndrome 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 51
Optic Atrophy 11 26 49 38 13 67
Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 67
Optic Atrophy with or Without Deafness Ophthalmoplegia Myopathy Ataxia and Neuropathy 69
 
Dominant Optic Atrophy Plus Syndrome 69
3-Methylglutaconic Aciduria Type 3 67
Atrophy of Optic Disc 11
Doa+ 69

Characteristics:

HPO:

63
optic atrophy plus syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM51 125250
Disease Ontology11 DOID:5723
ICD9CM31 377.1, 377.10
NCIt44 C34863

Summaries for Optic Atrophy Plus Syndrome

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NIH Rare Diseases:47 Dominant optic atrophy (DOA) is an inherited optic nerve disorder characterized by degeneration of the optic nerves. It typically starts during the first decade of life. Affected people usually develop moderate visual loss and color vision defects. The severity varies and visual acuity can range from normal to legal blindness. About 20% of people with DOA have non-ocular features, such as sensorineural hearing loss; myopathy; peripheral neuropathy; multiple sclerosis-like illness; and spastic paraplegia (impaired function of the legs). These cases may be referred to as 'DOA plus.' DOA is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes, some of which have not been identified. There is currently no way to prevent or cure DOA, but affected people may benefit from low vision aids. Last updated: 12/27/2015

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 progressive sensorineural hearing impairment, strabismus and visual impairment. 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, brain and bone, and related mouse phenotypes are vision/eye and growth/size/body region.

OMIM:51 Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an... (125250) more...

UniProtKB/Swiss-Prot:69 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

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 110.7OPA3, PMPCA
8hereditary motor and sensory neuropathy via10.7C12orf65, MFN2
9lfng-related spondylocostal dysostosis, autosomal recessive10.6C12orf65, OPA3
10paroxysomal nonkinesigenic dyskinesia10.6MT-ND4, MT-ND6
11patau syndrome10.5MT-ND4, SNCA
12cranial pseudosarcomatous fasciitis10.5C12orf65, C19orf12, MFN2
13mitochondrial neurogastrointestinal encephalopathy disease10.5MT-ND4, MT-ND6, OPA1
14clubfoot10.5MT-ND4, MT-ND6
15nonsyndromic disorders of testicular development10.5C19orf12, FA2H
16auriculoosteodysplasia10.5C12orf65, C19orf12, OPA1, OPA3
17corneal endothelial dystrophy 2, autosomal recessive10.4C19orf12, FA2H, SNCA
18urethral false passage10.4MT-ND4, OPA1, SNCA, TMEM126A
19obstructive sleep apnea10.3ATP1A3, SNCA
20enchondroma10.3C12orf65, MT-ND6
21urinary tract papillary transitional cell benign neoplasm10.2ATP1A3, FA2H, MT-ND6
223-m syndrome 310.2BAMBI, BTD, MFN2, OPA1, OPA3, PMPCA
23esophageal basaloid squamous cell carcinoma10.0MT-ND4, MT-ND6, OPA1
24lymphoepithelioma-like carcinoma9.9ANTXR1, DNM1L, MFN1, MFN2, MT-ND4, MT-ND6
253-methylglutaconic aciduria9.7
26noninfectious dermatoses of eyelid9.6ANTXR1, C12orf65, DNM1L, MFN1, MFN2, MT-ND4
27morbid obesity and spermatogenic failure8.4ANTXR1, ATP1A3, C12orf65, C19orf12, DNM1L, FA2H

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



Diseases related to optic atrophy plus syndrome

Symptoms 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:

 63 (show all 18)
id Description HPO Frequency HPO Source Accession
1 progressive sensorineural hearing impairment63 HP:0000408
2 strabismus63 HP:0000486
3 visual impairment63 HP:0000505
4 ptosis63 HP:0000508
5 tritanomaly63 HP:0000552
6 centrocecal scotoma63 HP:0000576
7 ophthalmoplegia63 HP:0000602
8 central scotoma63 HP:0000603
9 red-green dyschromatopsia63 HP:0000642
10 optic atrophy63 HP:0000648
11 abnormal amplitude of pattern reversal visual evoked potentials63 HP:0000650
12 horizontal nystagmus63 HP:0000666
13 ataxia63 HP:0001251
14 myopathy63 HP:0003198
15 increased variability in muscle fiber diameter63 HP:0003557
16 abnormal auditory evoked potentials63 HP:0006958
17 reduced visual acuity63 HP:0007663
18 peripheral neuropathy63 HP:0009830

UMLS symptoms related to Optic Atrophy Plus Syndrome:


optic nerve pallor, ataxia, muscle spasticity, extrapyramidal sign, ophthalmoplegia

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 225)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Interferon beta-1bapprovedPhase 4, Phase 282145155-23-3
Synonyms:
Betaseron
 
Fibroblast interferon
IFN-beta
Interferon beta precursor
2
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
3
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
4
Lansoprazoleapproved, investigationalPhase 4207103577-45-33883
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
5
RanibizumabapprovedPhase 4, Phase 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
6Idebenoneapproved, investigationalPhase 4, Phase 3, Phase 22158186-27-9
7
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
8
Tacrolimusapproved, investigationalPhase 4, Phase 21074104987-11-3445643, 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
9
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
10Calcineurin InhibitorsPhase 4, Phase 21597
11Antirheumatic AgentsPhase 4, Phase 3, Phase 2, Phase 110627
12Dermatologic AgentsPhase 4, Phase 25674
13Immunosuppressive AgentsPhase 4, Phase 2, Phase 112770
14Angiogenesis InhibitorsPhase 4, Phase 3, Phase 1, Phase 24143
15Angiogenesis Modulating AgentsPhase 4, Phase 3, Phase 1, Phase 24072
16Anti-Infective AgentsPhase 4, Phase 2, Phase 3, Phase 121402
17Pharmaceutical SolutionsPhase 4, Phase 2, Phase 3, Phase 17793
18Anti-Inflammatory Agents, Non-SteroidalPhase 4, Phase 3, Phase 1, Phase 24295
19Cholinergic AgentsPhase 43846
20AntacidsPhase 41767
21Botulinum Toxins, Type APhase 4630
22Botulinum ToxinsPhase 4669
23abobotulinumtoxinAPhase 4626
24
Proton pump inhibitorsPhase 41080
Synonyms:
 
PPIs
25Anti-Inflammatory AgentsPhase 4, Phase 3, Phase 2, Phase 110355
26
DexlansoprazolePhase 4207138530-94-6, 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
27onabotulinumtoxinAPhase 4626
28Anti-Ulcer AgentsPhase 41767
29Gastrointestinal AgentsPhase 4, Phase 28109
30Neuromuscular AgentsPhase 4, Phase 1, Phase 21129
31ExpectorantsPhase 4, Phase 2, Phase 3388
32N-monoacetylcystinePhase 4, Phase 2, Phase 3316
33Antiviral AgentsPhase 4, Phase 2, Phase 3, Phase 19732
34AntioxidantsPhase 4, Phase 3, Phase 2, Phase 12928
35Peripheral Nervous System AgentsPhase 4, Phase 3, Phase 2, Phase 122776
36Analgesics, Non-NarcoticPhase 4, Phase 3, Phase 1, Phase 26260
37Neurotransmitter AgentsPhase 4, Phase 3, Phase 217734
38Protective AgentsPhase 4, Phase 2, Phase 3, Phase 17190
39AntidotesPhase 4, Phase 2, Phase 31038
40Interferon-betaPhase 4, Phase 2280
41Respiratory System AgentsPhase 4, Phase 2, Phase 3, Phase 14818
42AnalgesicsPhase 4, Phase 3, Phase 1, Phase 211287
43incobotulinumtoxinAPhase 4635
44interferonsPhase 4, Phase 22137
45Fingolimod HydrochloridePhase 487
46Adjuvants, ImmunologicPhase 4, Phase 22484
47
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
48
Doxycyclineapproved, investigational, vet_approvedPhase 2, Phase 3237564-25-054671203
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
49
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
50
Bimatoprostapproved, investigationalPhase 3132155206-00-15311027
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

Interventional clinical trials:

(show top 50)    (show all 238)
idNameStatusNCT IDPhase
1Upper Facial Remodeling With Perlane-L and DysportCompletedNCT01354743Phase 4
2Cystagon to Treat Infantile Neuronal Ceroid LipofuscinosisCompletedNCT00028262Phase 4
3Fingolimod Versus Interferon Beta 1b in Cognitive SymptomsCompletedNCT01333501Phase 4
4Reconstitution With Pimecrolimus Cream 1% of Steroid-damaged Skin in Adults With Atopic DermatitisCompletedNCT00367393Phase 4
5Safety and Efficacy of Lansoprazole in Patients With Reflux DiseaseCompletedNCT01135368Phase 4
6PreView PHP Preferential Hyperacuity Perimeter for the Detection of Choroidal NeovascularizationCompletedNCT00358345Phase 4
7Assessment of Early Changes in SD-OCT After Initiation of a Treatment by Intravitreal Aflibercept (EYLEA®)STARTCompletedNCT02246829Phase 4
8Study to Assess the Efficacy and Safety of Raxone in LHON PatientsRecruitingNCT02774005Phase 4
9A Comparison of Ranibizumab and Aflibercept for the Development of Geographic Atrophy in (Wet) AMD PatientsRecruitingNCT02130024Phase 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
11Phase II/III Study of the Efficacy and Safety of MacuCLEAR MC-1101 in Treating DryAge-Related Macular DegenerationUnknown statusNCT02127463Phase 2, Phase 3
12TTT Versus PDT for Treatment of Choroidal Neovascularization in Age-Related Macular DegenerationUnknown statusNCT00260403Phase 2, Phase 3
13Physiopathological Study and Pharmacological Modulation of Cutaneous Atrophy's Markers Induced by GlucocorticoidsUnknown statusNCT00709579Phase 3
14Vagus Nerve Stimulation to Augment Recovery From Minimally Conscious or Persistently Vegetative States After Traumatic Brain InjuryUnknown statusNCT01260090Phase 3
15A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON)CompletedNCT00528151Phase 3
16Complications of Age-Related Macular Degeneration Prevention TrialCompletedNCT00000167Phase 3
17Safety and Efficacy Assessment Treatment Trials of Emixustat HydrochlorideCompletedNCT01802866Phase 2, Phase 3
18Lipoic Acid for Secondary Progressive Multiple Sclerosis (MS)CompletedNCT01188811Phase 2, Phase 3
19Oculomotor Testing in the Differential Diagnosis of DementiaCompletedNCT01577394Phase 3
20Study to Evaluate the Safety and Efficacy of Davunetide for the Treatment of Progressive Supranuclear PalsyCompletedNCT01110720Phase 2, Phase 3
21Erythropoietin in Methanol Associated Optic Neuropathy: A Phase-2 Clinical Trial (EPO-MAON Study)RecruitingNCT02376881Phase 3
22Treatment of Optic Neuritis With Erythropoietin: a Randomised, Double-blind, Placebo-controlled TrialRecruitingNCT01962571Phase 3
23Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 MutationRecruitingNCT02652780Phase 3
24Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 MutationRecruitingNCT02652767Phase 3
25Clinical Study to Evaluate Treatment With ORACEA® for Geographic Atrophy (TOGA)RecruitingNCT01782989Phase 2, Phase 3
26Long-Term Safety of Lampalizumab Intravitreal (ITV) Injections in Participants With Geographic Atrophy (GA) Secondary to Age-Related Macular Degeneration (OMASPECT)RecruitingNCT02745119Phase 3
27Treatment of Soft Tissue Expansion in Inactive Thyroid Eye Disease Patients Using Drops of Prostaglandin AnaloguesRecruitingNCT02155049Phase 3
28A 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
29A Study Investigating the Safety and Efficacy of Lampalizumab Intravitreal Injections in Patients With Geographic Atrophy Secondary to Age-Related Macular Degeneration (SPECTRI)RecruitingNCT02247531Phase 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
31Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous GraftActive, not recruitingNCT02878694Phase 2, Phase 3
32Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based TherapyNot yet recruitingNCT02882477Phase 2, Phase 3
33A Study of the Beneficial Effects of Eplerenone on Central Serous ChorioretinopathyNot yet recruitingNCT02215330Phase 2, Phase 3
34Safety and Effectiveness Investigation for Dry, Non-Exudative Age Related Macular Degeneration (AMD) Using RheopheresisSuspendedNCT00460967Phase 3
35Geographic Atrophy Treatment EvaluationTerminatedNCT00890097Phase 3
36Omega 6:Omega 3 Ratio and Progression of Age-related Macular Degeneration (AMD).TerminatedNCT00987129Phase 3
37Efficacy and Safety Study of MC-1101 1% TID in the Treatment of Nonexudative Age-Related Macular DegenerationTerminatedNCT01601483Phase 2, Phase 3
38Modafinil to Treat Fatigue in Post-Polio SyndromeTerminatedNCT00067496Phase 3
39Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS)TerminatedNCT00211224Phase 3
40Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary Optic Neuropathy (LHON)WithdrawnNCT01495715Phase 3
41Safety and Efficacy Study of BCD-021 Compared to Lucentis® in Patients With Neovascular Wet Age-related Macular DegenerationWithdrawnNCT02036723Phase 3
42Study the Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Optic Nerve DiseaseUnknown statusNCT01834079Phase 1, Phase 2
43Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic NeuropathyUnknown statusNCT02176733Phase 2
44The OMEGA Study: Use of Eye Drops to Treat Geographic Atrophy Associated With Age-Related Macular Degeneration (Dry AMD)Unknown statusNCT00485394Phase 2
45Pilot 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
46Tools to Optimize Patient Presentation After Onset of Exudative Age-Related Macular Degeneration (AMD)Unknown statusNCT01337414Phase 2
47Safety Study of Use of Autologous Bone Marrow Derived Stem Cell in Treatment of Age Related Macular DegenerationUnknown statusNCT02016508Phase 1, Phase 2
48Safety and Efficacy Study of Erythropoietin as add-on Therapy of Methylprednisolone to Treat Acute Optic NeuritisCompletedNCT00355095Phase 2
49Study to Assess Efficacy,Safety and Tolerability of Idebenone in the Treatment of Leber's Hereditary Optic NeuropathyCompletedNCT00747487Phase 2
50OT-551 Antioxidant Eye Drops to Treat Geographic Atrophy in Age-Related Macular DegenerationCompletedNCT00306488Phase 2

Search NIH Clinical Center for Optic Atrophy Plus Syndrome


Cochrane evidence based reviews: optic atrophy

Genetic Tests for Optic Atrophy Plus Syndrome

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Genetic tests related to Optic Atrophy Plus Syndrome:

id Genetic test Affiliating Genes
1 Optic Atrophy26

Anatomical Context for Optic Atrophy Plus Syndrome

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MalaCards organs/tissues related to Optic Atrophy Plus Syndrome:

35
Eye, Brain, Bone, Retina, Skin, Testes, Endothelial

Animal Models for Optic Atrophy Plus Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Optic Atrophy Plus Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.7BTD, DNM1L, FA2H, MT-ND6, OPA1, OPA3
2MP:00053788.9ANTXR1, ATP1A3, BAMBI, BTD, DNM1L, MFN1
3MP:00036318.9ATP1A3, DNM1L, FA2H, MFN1, MFN2, MT-ND6
4MP:00053768.8ATP1A3, BTD, DNM1L, FA2H, MFN2, MT-ND6
5MP:00053868.7ATP1A3, BAMBI, BTD, DNM1L, FA2H, MFN1

Publications for Optic Atrophy Plus Syndrome

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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

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

69
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 17)
id Gene Variation Type Significance SNP ID Assembly Location
1ISCA2NM_194279.3(ISCA2): c.229G> A (p.Gly77Ser)SNVLikely pathogenic, Pathogenicrs730882246GRCh38Chr 14, 74494329: 74494329
2OPA1NM_015560.2(OPA1): c.1346delC (p.Thr449Lysfs)deletionLikely pathogenicrs794729196GRCh37Chr 3, 193361797: 193361797
3OPA3NM_025136.3(OPA3): c.415C> T (p.Gln139Ter)SNVPathogenicrs28937899GRCh37Chr 19, 46056897: 46056897
4PMPCANM_015160.2(PMPCA): c.1129G> A (p.Ala377Thr)SNVPathogenicrs753611141GRCh38Chr 9, 136418847: 136418847
5PMPCANM_015160.2(PMPCA): c.1066G> A (p.Gly356Ser)SNVPathogenicrs768643552GRCh37Chr 9, 139313082: 139313082
6OPA1NM_130837.2(OPA1): c.1817G> A (p.Cys606Tyr)SNVPathogenicrs879255592GRCh37Chr 3, 193364916: 193364916
7OPA1NM_015560.2(OPA1): c.985-2A> GSNVPathogenicrs886041317GRCh37Chr 3, 193360552: 193360552
8OPA1NM_015560.2(OPA1): c.1294A> G (p.Ile432Val)SNVPathogenicrs387906899GRCh37Chr 3, 193361398: 193361398
9OPA1NM_130837.2(OPA1): c.1800C> G (p.Ser600Arg)SNVPathogenicrs398124298GRCh37Chr 3, 193364899: 193364899
10OPA1NM_015560.2(OPA1): c.1316G> T (p.Gly439Val)SNVPathogenicrs387906900GRCh37Chr 3, 193361767: 193361767
11OPA1NM_015560.2(OPA1): c.2729T> A (p.Val910Asp)SNVPathogenicrs387906901GRCh37Chr 3, 193384980: 193384980
12OPA3NM_025136.3(OPA3): c.143-1G> CSNVPathogenicrs80356523GRCh37Chr 19, 46057170: 46057170
13OPA3NM_025136.3(OPA3): c.320_337del18 (p.Gln108_Glu113del)deletionPathogenicrs80356526GRCh37Chr 19, 46056975: 46056992
14OPA1NM_015560.2(OPA1): c.1146A> G (p.Ile382Met)SNVLikely pathogenic, Pathogenicrs143319805GRCh37Chr 3, 193361167: 193361167
15OPA1NM_015560.2(OPA1): c.1745A> G (p.Tyr582Cys)SNVPathogenicrs121908376GRCh37Chr 3, 193365898: 193365898
16OPA1NM_015560.2(OPA1): c.1334G> A (p.Arg445His)SNVPathogenicrs80356529GRCh37Chr 3, 193361785: 193361785
17OPA1NM_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
19.8MFN1, 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
1mitochondrial outer membraneGO:000574110.3DNM1L, MFN1, MFN2, OPA1
2mitochondrial inner membraneGO:000574310.0MT-ND4, MT-ND6, OPA1, PMPCA, TMEM126A
3mitochondrionGO:00057398.7C12orf65, C19orf12, DNM1L, ISCA2, MFN1, MFN2
4integral component of membraneGO:00160218.3ANTXR1, ATP1A3, BAMBI, C19orf12, FA2H, MFN1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1mitochondrial membrane organizationGO:000700610.6MFN2, SNCA
2negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathwayGO:190223610.5OPA1, WFS1
3mitochondrial fusionGO:000805310.4MFN1, MFN2, OPA1
4mitochondrion morphogenesisGO:007058410.4DNM1L, OPA3
5calcium ion homeostasisGO:005507410.4SNCA, WFS1
6mitochondrial fissionGO:000026610.1DNM1L, OPA1
7visual perceptionGO:00076019.9OPA1, OPA3, OPN4, WFS1

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

idNameGO IDScoreTop Affiliating Genes
1ferrous iron bindingGO:000819810.4ISCA2, SNCA
2GTPase activityGO:00039249.8DNM1L, MFN1, MFN2, OPA1
3GTP bindingGO:00055259.8DNM1L, MFN1, MFN2, OPA1

Sources for Optic Atrophy Plus Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet