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

Aliases & Descriptions for Optic Atrophy Plus Syndrome:

Name: Optic Atrophy Plus Syndrome 54
Optic Atrophy 12 29 52 42 14 69
Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 69
Optic Atrophy with or Without Deafness Ophthalmoplegia Myopathy Ataxia and Neuropathy 66
Dominant Optic Atrophy Plus Syndrome 66
3-Methylglutaconic Aciduria Type 3 69
Atrophy of Optic Disc 12
Doa+ 66

Characteristics:

HPO:

32
optic atrophy plus syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course phenotypic variability


Classifications:



External Ids:

OMIM 54 125250
Disease Ontology 12 DOID:5723
ICD9CM 35 377.1 377.10
NCIt 47 C34863
UMLS 69 C0029124

Summaries for Optic Atrophy Plus Syndrome

OMIM : 54 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, ophthalmoplegia and ptosis. An important gene associated with Optic Atrophy Plus Syndrome is OPA1 (OPA1, Mitochondrial Dynamin Like GTPase), and among its related pathways/superpathways is Glucose / Energy Metabolism. The drugs Ranibizumab and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are behavior/neurological and cellular

UniProtKB/Swiss-Prot : 66 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

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)
id Related Disease Score Top Affiliating Genes
1 optic atrophy 1 12.5
2 leber optic atrophy 12.5
3 glaucomatous atrophy of optic disc 12.1
4 autosomal dominant optic atrophy plus syndrome 12.1
5 3-methylglutaconic aciduria, type iii 11.4
6 optic atrophy 3 with cataract 11.2
7 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 10.3 OPA3 PMPCA
8 charcot-marie-tooth disease, type 2a2 10.3 C12orf65 MFN2
9 status asthmaticus 10.3 MT-ND4 OPA1 TMEM126A
10 lentigo maligna melanoma 10.2 MT-ND4 MT-ND6
11 hereditary motor and sensory neuropathy via 10.2 C12orf65 MFN2
12 uterine ligament serous adenocarcinoma 10.2 MFN2 MT-ND4 MT-ND6
13 mucinous intrahepatic cholangiocarcinoma 10.2 C12orf65 MT-ND4 MT-ND6
14 wolfram-like syndrome, autosomal dominant 10.2 BAMBI CISD2 WFS1
15 3-m syndrome 3 10.2 OPA3 PMPCA
16 ovarian stromal hyperthecosis 10.2 C12orf65 C19orf12 MFN2
17 median arcuate ligament syndrome 10.2 ANTXR1 MFF
18 brachymorphism-onychodysplasia-dysphalangism syndrome 10.2 C12orf65 C19orf12 OPA1 OPA3
19 myoclonic epilepsy associated with ragged-red fibers 10.2 MFF MT-ND4 MT-ND6
20 nkx2-1-related disorders 10.2 MFF MT-ND4 MT-ND6 OPA1
21 fibrosis of extraocular muscles, congenital, 3a 10.1 MFN1 MFN2 OPA1 YME1L1
22 lrp5-related familial exudative vitreoretinopathy, autosomal dominant 10.1 C12orf65 OPA3
23 alopecia, androgenetic, 2 10.0 MT-ND4 MT-ND6 OPA1 OPA3 OPN4 TMEM126A
24 nerve fibre bundle defect 9.9 ANTXR1 DNM1L MFN1 MFN2 MT-ND4 MT-ND6
25 allergic contact dermatitis of eyelid 9.7 ANTXR1 BTD DNM1L MFN1 MFN2 MT-ND4
26 3-methylglutaconic aciduria 9.7
27 spinocerebellar ataxia, autosomal recessive 15 8.8 ANTXR1 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

Symptoms by clinical synopsis from OMIM:

125250

Clinical features from OMIM:

125250

Human phenotypes related to Optic Atrophy Plus Syndrome:

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 ophthalmoplegia 32 HP:0000602
3 ptosis 32 HP:0000508
4 visual impairment 32 HP:0000505
5 optic atrophy 32 HP:0000648
6 myopathy 32 HP:0003198
7 peripheral neuropathy 32 HP:0009830
8 strabismus 32 HP:0000486
9 reduced visual acuity 32 HP:0007663
10 central scotoma 32 HP:0000603
11 centrocecal scotoma 32 HP:0000576
12 increased variability in muscle fiber diameter 32 HP:0003557
13 progressive sensorineural hearing impairment 32 HP:0000408
14 horizontal nystagmus 32 HP:0000666
15 abnormal auditory evoked potentials 32 HP:0006958
16 tritanomaly 32 HP:0000552
17 red-green dyschromatopsia 32 HP:0000642
18 abnormal amplitude of pattern reversal visual evoked potentials 32 HP:0000650

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 OPA3 OPN4 WFS1 ATP1A3 BAMBI BTD
2 cellular MP:0005384 9.96 ANTXR1 CISD2 DNM1L MFN1 MFN2 MT-ND6
3 growth/size/body region MP:0005378 9.93 ANTXR1 ATP1A3 BAMBI BTD CISD2 DNM1L
4 muscle MP:0005369 9.56 ATP1A3 BTD CISD2 DNM1L MFN2 OPA1
5 vision/eye MP:0005391 9.17 BTD CISD2 DNM1L MT-ND6 OPA1 OPA3

Drugs & Therapeutics for Optic Atrophy Plus Syndrome

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

(show top 50) (show all 236)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4,Phase 3,Phase 1,Phase 2 347396-82-1 459903
2
Acetylcholine Approved Phase 4 51-84-3 187
3
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 3 616-91-1 12035
4
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
5
Pimecrolimus Approved, Investigational Phase 4 137071-32-0 6447131 17753757
6
Tacrolimus Approved, Investigational Phase 4,Phase 2 104987-11-3 445643 439492
7
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
8 Idebenone Approved, Investigational Phase 4,Phase 3,Phase 2 58186-27-9
9
Choline Approved, Nutraceutical Phase 4 62-49-7 305
10 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2
11 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
12 Antiviral Agents Phase 4,Phase 2,Phase 3,Phase 1
13 Analgesics Phase 4,Phase 3,Phase 1,Phase 2
14 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 1,Phase 2
15 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
16 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 1,Phase 2
17 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Calcineurin Inhibitors Phase 4,Phase 2
19 Dermatologic Agents Phase 4,Phase 2
20 Immunosuppressive Agents Phase 4,Phase 2,Phase 1
21 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 1,Phase 2
22 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 1,Phase 2
23 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
24 abobotulinumtoxinA Phase 4
25 Botulinum Toxins Phase 4
26 Botulinum Toxins, Type A Phase 4
27 Cholinergic Agents Phase 4
28 incobotulinumtoxinA Phase 4
29 Neuromuscular Agents Phase 4,Phase 1,Phase 2
30 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
31 onabotulinumtoxinA Phase 4
32 Antidotes Phase 4,Phase 2,Phase 3
33 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1
34 Expectorants Phase 4,Phase 2,Phase 3
35 N-monoacetylcystine Phase 4,Phase 2,Phase 3
36 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1
37 Respiratory System Agents Phase 4,Phase 2,Phase 3,Phase 1
38 Antacids Phase 4
39 Anti-Ulcer Agents Phase 4
40
Dexlansoprazole Phase 4 138530-94-6, 103577-45-3 9578005
41 Gastrointestinal Agents Phase 4,Phase 2
42
Proton pump inhibitors Phase 4
43 Cytidine Diphosphate Choline Phase 4
44 Nootropic Agents Phase 4
45
Bimatoprost Approved, Investigational Phase 3 155206-00-1 5311027
46
Bevacizumab Approved, Investigational Phase 3,Phase 1,Phase 2 216974-75-3
47
Doxycycline Approved, Investigational, Vet_approved Phase 2, Phase 3 564-25-0 54671203
48
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
49
Riluzole Approved, Investigational Phase 3,Phase 2 1744-22-5 5070
50
Iron Approved Phase 2, Phase 3 7439-89-6 23925

Interventional clinical trials:

(show top 50) (show all 244)
id Name Status NCT ID Phase
1 Upper Facial Remodeling With Perlane-L and Dysport Completed NCT01354743 Phase 4
2 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4
3 Reconstitution With Pimecrolimus Cream 1% of Steroid-damaged Skin in Adults With Atopic Dermatitis Completed NCT00367393 Phase 4
4 Safety and Efficacy of Lansoprazole in Patients With Reflux Disease Completed NCT01135368 Phase 4
5 PreView PHP Preferential Hyperacuity Perimeter for the Detection of Choroidal Neovascularization Completed NCT00358345 Phase 4
6 Assessment of Early Changes in SD-OCT After Initiation of a Treatment by Intravitreal Aflibercept (EYLEA®)START Completed NCT02246829 Phase 4
7 Study to Assess the Efficacy and Safety of Raxone in LHON Patients Recruiting NCT02774005 Phase 4
8 A Comparison of Ranibizumab and Aflibercept for the Development of Geographic Atrophy in (Wet) AMD Patients Recruiting NCT02130024 Phase 4
9 Citicoline Effect on Non-arteritic Anterior Ischemic Optic Neuropathy (NAION) Recruiting NCT03046693 Phase 4
10 Comparison of Treatment Regimens Using Ranibizumab: Intensive (Resolution of Intra- and Sub-retinal Fluid) vs Relaxed (Resolution of Primarily Intra-retinal Fluid) Treatment. Active, not recruiting NCT01972789 Phase 4
11 Treatment of Soft Tissue Expansion in Inactive Thyroid Eye Disease Patients Using Drops of Prostaglandin Analogues Unknown status NCT02155049 Phase 3
12 Phase II/III Study of the Efficacy and Safety of MacuCLEAR MC-1101 in Treating DryAge-Related Macular Degeneration Unknown status NCT02127463 Phase 2, Phase 3
13 TTT Versus PDT for Treatment of Choroidal Neovascularization in Age-Related Macular Degeneration Unknown status NCT00260403 Phase 2, Phase 3
14 Physiopathological Study and Pharmacological Modulation of Cutaneous Atrophy's Markers Induced by Glucocorticoids Unknown status NCT00709579 Phase 3
15 Vagus Nerve Stimulation to Augment Recovery From Minimally Conscious or Persistently Vegetative States After Traumatic Brain Injury Unknown status NCT01260090 Phase 3
16 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3
17 Complications of Age-Related Macular Degeneration Prevention Trial Completed NCT00000167 Phase 3
18 Safety and Efficacy Assessment Treatment Trials of Emixustat Hydrochloride Completed NCT01802866 Phase 2, Phase 3
19 Lipoic Acid for Secondary Progressive Multiple Sclerosis (MS) Completed NCT01188811 Phase 2, Phase 3
20 Oculomotor Testing in the Differential Diagnosis of Dementia Completed NCT01577394 Phase 3
21 Study to Evaluate the Safety and Efficacy of Davunetide for the Treatment of Progressive Supranuclear Palsy Completed NCT01110720 Phase 2, Phase 3
22 Erythropoietin in Methanol Associated Optic Neuropathy: A Phase-2 Clinical Trial (EPO-MAON Study) Recruiting NCT02376881 Phase 3
23 Treatment of Optic Neuritis With Erythropoietin: a Randomised, Double-blind, Placebo-controlled Trial Recruiting NCT01962571 Phase 3
24 Safety and Efficacy Study of Gene Therapy for The Treatment of Leber's Hereditary Optic Neuropathy Recruiting NCT03153293 Phase 2, Phase 3
25 Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 Mutation Recruiting NCT02652767 Phase 3
26 Clinical Study to Evaluate Treatment With ORACEA® for Geographic Atrophy (TOGA) Recruiting NCT01782989 Phase 2, Phase 3
27 Long-Term Safety of Lampalizumab Intravitreal (ITV) Injections in Participants With Geographic Atrophy (GA) Secondary to Age-Related Macular Degeneration (OMASPECT) Recruiting NCT02745119 Phase 3
28 A Study Investigating the Safety and Efficacy of Lampalizumab Intravitreal Injections in Patients With Geographic Atrophy Secondary to Age-Related Macular Degeneration (SPECTRI) Recruiting NCT02247531 Phase 3
29 A 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 Degeneration Recruiting NCT02686658 Phase 2, Phase 3
30 A Study Investigating the Efficacy and Safety of Lampalizumab Intravitreal Injections in Participants With Geographic Atrophy Secondary to Age-Related Macular Degeneration (CHROMA) Recruiting NCT02247479 Phase 3
31 Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation Active, not recruiting NCT02652780 Phase 3
32 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Active, not recruiting NCT02878694 Phase 2, Phase 3
33 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy Not yet recruiting NCT02882477 Phase 2, Phase 3
34 A Study of the Beneficial Effects of Eplerenone on Central Serous Chorioretinopathy Not yet recruiting NCT02215330 Phase 2, Phase 3
35 Safety and Effectiveness Investigation for Dry, Non-Exudative Age Related Macular Degeneration (AMD) Using Rheopheresis Suspended NCT00460967 Phase 3
36 Geographic Atrophy Treatment Evaluation Terminated NCT00890097 Phase 3
37 Omega 6:Omega 3 Ratio and Progression of Age-related Macular Degeneration (AMD). Terminated NCT00987129 Phase 3
38 Efficacy and Safety Study of MC-1101 1% TID in the Treatment of Nonexudative Age-Related Macular Degeneration Terminated NCT01601483 Phase 2, Phase 3
39 Modafinil to Treat Fatigue in Post-Polio Syndrome Terminated NCT00067496 Phase 3
40 Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS) Terminated NCT00211224 Phase 3
41 Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary Optic Neuropathy (LHON) Withdrawn NCT01495715 Phase 3
42 Safety and Efficacy Study of BCD-021 Compared to Lucentis® in Patients With Neovascular Wet Age-related Macular Degeneration Withdrawn NCT02036723 Phase 3
43 Study the Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Optic Nerve Disease Unknown status NCT01834079 Phase 1, Phase 2
44 Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy Unknown status NCT02176733 Phase 2
45 The OMEGA Study: Use of Eye Drops to Treat Geographic Atrophy Associated With Age-Related Macular Degeneration (Dry AMD) Unknown status NCT00485394 Phase 2
46 Amiloride Hydrochlorothiazide as Treatment of Acute Inflammation of the Optic Nerve Unknown status NCT01879527 Phase 2
47 Pilot 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 status NCT00745511 Phase 1, Phase 2
48 Tools to Optimize Patient Presentation After Onset of Exudative Age-Related Macular Degeneration (AMD) Unknown status NCT01337414 Phase 2
49 Efficacy, Safety and Tolerability of Andrographolides Versus Placebo in Patients With Progressive Forms of MS Unknown status NCT02273635 Phase 1, Phase 2
50 Safety Study of Use of Autologous Bone Marrow Derived Stem Cell in Treatment of Age Related Macular Degeneration Unknown status NCT02016508 Phase 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

Genetic tests related to Optic Atrophy Plus Syndrome:

id Genetic test Affiliating Genes
1 Optic Atrophy 29

Anatomical Context for Optic Atrophy Plus Syndrome

MalaCards organs/tissues related to Optic Atrophy Plus Syndrome:

39
Eye

Publications for Optic Atrophy Plus Syndrome

Articles related to Optic Atrophy Plus Syndrome:

id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 OPA1 p.Arg445His VAR_015741 rs80356529
2 OPA1 p.Ser545Arg VAR_026533 rs398124298
3 OPA1 p.Ala357Thr VAR_060836 rs190223702
4 OPA1 p.Cys551Tyr VAR_060851
5 OPA1 p.Tyr582Cys VAR_060853 rs121908376
6 OPA1 p.Gly439Val VAR_072127 rs387906900
7 OPA1 p.Thr449Pro VAR_072128
8 OPA1 p.Val910Asp VAR_072132 rs387906901

ClinVar genetic disease variations for Optic Atrophy Plus Syndrome:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 OPA1 NM_015560.2(OPA1): c.1745A> G (p.Tyr582Cys) single nucleotide variant Pathogenic rs121908376 GRCh37 Chromosome 3, 193365898: 193365898
2 OPA1 NM_015560.2(OPA1): c.1334G> A (p.Arg445His) single nucleotide variant Pathogenic rs80356529 GRCh37 Chromosome 3, 193361785: 193361785
3 OPA1 NM_015560.2(OPA1): c.2848_2849delGA (p.Asp950Cysfs) deletion Pathogenic rs879255513 GRCh38 Chromosome 3, 193692092: 193692093
4 OPA1 NM_015560.2(OPA1): c.1294A> G (p.Ile432Val) single nucleotide variant Pathogenic rs387906899 GRCh37 Chromosome 3, 193361398: 193361398
5 OPA1 NM_130837.2(OPA1): c.1800C> G (p.Ser600Arg) single nucleotide variant Pathogenic rs398124298 GRCh37 Chromosome 3, 193364899: 193364899
6 OPA1 NM_015560.2(OPA1): c.1316G> T (p.Gly439Val) single nucleotide variant Pathogenic rs387906900 GRCh37 Chromosome 3, 193361767: 193361767
7 OPA1 NM_015560.2(OPA1): c.2729T> A (p.Val910Asp) single nucleotide variant Pathogenic rs387906901 GRCh37 Chromosome 3, 193384980: 193384980
8 ISCA2 NM_194279.3(ISCA2): c.229G> A (p.Gly77Ser) single nucleotide variant Pathogenic/Likely pathogenic rs730882246 GRCh38 Chromosome 14, 74494329: 74494329
9 OPA1 NM_015560.2(OPA1): c.1346delC (p.Thr449Lysfs) deletion Likely pathogenic rs794729196 GRCh37 Chromosome 3, 193361797: 193361797
10 PMPCA NM_015160.2(PMPCA): c.1066G> A (p.Gly356Ser) single nucleotide variant Pathogenic rs768643552 GRCh37 Chromosome 9, 139313082: 139313082
11 PMPCA NM_015160.2(PMPCA): c.1129G> A (p.Ala377Thr) single nucleotide variant Pathogenic rs753611141 GRCh38 Chromosome 9, 136418847: 136418847
12 OPA1 NM_130837.2(OPA1): c.1817G> A (p.Cys606Tyr) single nucleotide variant Pathogenic rs879255592 GRCh37 Chromosome 3, 193364916: 193364916
13 OPA1 NM_015560.2(OPA1): c.985-2A> G single nucleotide variant Pathogenic rs886041317 GRCh37 Chromosome 3, 193360552: 193360552

Copy number variations for Optic Atrophy Plus Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 173060 3 189400000 193800000 Deletion OPA1 Optic atrophy

Expression for Optic Atrophy Plus Syndrome

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

Pathways for Optic Atrophy Plus Syndrome

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

id Super pathways Score Top Affiliating Genes
1 11.49 CISD2 MFN1 MFN2 OPA1 WFS1

GO Terms for Optic Atrophy Plus Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.73 MT-ND4 MT-ND6 OPA1 PMPCA TMEM126A YME1L1
2 mitochondrial membrane GO:0031966 9.58 C19orf12 MT-ND4 MT-ND6
3 mitochondrion GO:0005739 9.44 C12orf65 C19orf12 CISD2 DNM1L MFF MFN1
4 mitochondrial outer membrane GO:0005741 9.43 CISD2 DNM1L MFF MFN1 MFN2 OPA1
5 intrinsic component of mitochondrial outer membrane GO:0031306 9.16 MFN1 MFN2
6 membrane GO:0016020 10.3 ANTXR1 ATP1A3 BAMBI C19orf12 CISD2 DNM1L
7 integral component of membrane GO:0016021 10.2 ANTXR1 ATP1A3 BAMBI C19orf12 CISD2 MFF

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.71 OPA1 OPA3 OPN4 WFS1
2 mitochondrion organization GO:0007005 9.67 DNM1L OPA1 YME1L1
3 mitochondrial calcium ion transport GO:0006851 9.57 PMPCA YME1L1
4 release of cytochrome c from mitochondria GO:0001836 9.56 DNM1L MFF
5 positive regulation of dendritic spine morphogenesis GO:0061003 9.55 DNM1L OPA1
6 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.54 OPA1 WFS1
7 positive regulation of mitochondrial fission GO:0090141 9.52 DNM1L MFF
8 regulation of mitochondrion organization GO:0010821 9.51 DNM1L MFF
9 mitochondrial fragmentation involved in apoptotic process GO:0043653 9.48 DNM1L MFF
10 peroxisome fission GO:0016559 9.46 DNM1L MFF
11 dynamin family protein polymerization involved in mitochondrial fission GO:0003374 9.43 DNM1L OPA1
12 mitochondrion localization GO:0051646 9.37 MFN1 MFN2
13 mitochondrial fission GO:0000266 9.33 DNM1L MFF OPA1
14 intracellular distribution of mitochondria GO:0048312 9.32 DNM1L OPA1
15 regulation of peroxisome organization GO:1900063 9.26 DNM1L MFF
16 mitochondrion morphogenesis GO:0070584 9.26 DNM1L MFF OPA1 OPA3
17 mitochondrial fusion GO:0008053 8.92 MFF MFN1 MFN2 OPA1

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

id Name GO ID Score Top Affiliating Genes
1 GTPase activity GO:0003924 9.26 DNM1L MFN1 MFN2 OPA1
2 hydrolase activity GO:0016787 9.23 ATP1A3 BTD DNM1L MFN1 MFN2 OPA1

Sources for Optic Atrophy Plus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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