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MCID: 3MT016
MIFTS: 59

3-Methylglutaconic Aciduria, Type Iii

Categories: Genetic diseases, Eye diseases, Metabolic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for 3-Methylglutaconic Aciduria, Type Iii

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MalaCards integrated aliases for 3-Methylglutaconic Aciduria, Type Iii:

Name: 3-Methylglutaconic Aciduria, Type Iii 57 41 13 40
Optic Atrophy 12 76 37 29 55 6 44 15 73
3-Methylglutaconic Aciduria Type 3 12 24 25 59 29 6 15 73
Costeff Syndrome 57 12 24 25 59 75
Costeff Optic Atrophy Syndrome 12 24 25 59 75
Mga3 57 12 25 59 75
Optic Atrophy Plus Syndrome 57 24 25 75
Infantile Optic Atrophy with Chorea and Spastic Paraplegia 12 25 59
Autosomal Recessive Optic Atrophy Plus Syndrome 12 59
Opa3-Related 3-Methylglutaconic Aciduria 41 24
Autosomal Recessive Optic Atrophy Type 3 12 59
3-Methylglutaconic Aciduria Type Iii 12 25
Mga, Type Iii 57 25
Mgca3 57 75
Optic Atrophy, Infantile, with Chorea and Spastic Paraplegia 57
3-Alpha-Methylglutaconic Aciduria Type 3 75
Optic Atrophy 3, Autosomal Recessive 57
Autosomal Recessive Optic Atrophy 3 25
Optic Atrophy 3 Autosomal Recessive 75
Iraqi-Jewish 'optic Atrophy Plus' 57
Iraqi-Jewish Optic Atrophy Plus 12
Iraqi Jewish Optic Atrophy Plus 25
3-Methylglutaconic Aciduria 3 75
Atrophy, Optic, Plus Syndrome 40
Optic Atrophies, Hereditary 44
Opa3, Autosomal Recessive 57
Autosomal Recessive Opa3 25
Atrophy of Optic Disc 12
Mga, Type Iii; Mga3 57
Atrophy, Optic 40
Mga Type Iii 75
Opa3 Defect 25

Characteristics:

Orphanet epidemiological data:

59
3-methylglutaconic aciduria type 3
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of optic atrophy in infancy or early childhood
neurologic features occur later in childhood
increased prevalence in individuals of jewish-iraqi origin
allelic disorder to autosomal dominant optic atrophy and cataract


HPO:

32
3-methylglutaconic aciduria, type iii:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare eye diseases
Inborn errors of metabolism


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Summaries for 3-Methylglutaconic Aciduria, Type Iii

About this section
Genetics Home Reference : 25 Costeff syndrome is a condition characterized by vision loss, movement problems, and intellectual disability. People with Costeff syndrome have degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. This optic nerve atrophy often begins in infancy or early childhood and results in vision loss that worsens over time. Some affected individuals have rapid and involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus).

MalaCards based summary : 3-Methylglutaconic Aciduria, Type Iii, also known as optic atrophy, is related to optic atrophy 1 and behr syndrome, and has symptoms including ataxia, muscle spasticity and abnormality of extrapyramidal motor function. An important gene associated with 3-Methylglutaconic Aciduria, Type Iii is OPA3 (OPA3, Outer Mitochondrial Membrane Lipid Metabolism Regulator), and among its related pathways/superpathways is Mitochondrial protein import. The drugs Dexlansoprazole and Lansoprazole have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and lung, and related phenotypes are nystagmus and intellectual disability

OMIM : 57 Type III 3-methylglutaconic aciduria is a neuroophthalmologic syndrome consisting of early-onset bilateral optic atrophy and later-onset spasticity, extrapyramidal dysfunction, and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and of 3-methylglutaric acid is increased (Anikster et al., 2001). The phenotype is similar to Behr syndrome (210000) and may in some cases represent the same disorder (Sheffer et al., 1992; Lerman-Sagie, 1995). (258501)

UniProtKB/Swiss-Prot : 75 3-methylglutaconic aciduria 3: An autosomal recessive metabolic disorder that causes a neuro- ophthalmologic syndrome consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal dysfunction and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid is increased. MGA3 can be distinguished from MGA1 by the absence of increase of 3-hydroxyisovaleric acid levels.

Disease Ontology : 12 A 3-methylglutaconic aciduria that has material basis in mutation in the OPA3 gene.

Wikipedia : 76 Optic neuropathy is damage to the optic nerve from any cause. Damage and death of these nerve cells, or... more...

GeneReviews: NBK1473
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Related Diseases for 3-Methylglutaconic Aciduria, Type Iii

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Diseases in the 3-Methylglutaconic Aciduria family:

3-Methylglutaconic Aciduria, Type I 3-Methylglutaconic Aciduria, Type Iv
3-Methylglutaconic Aciduria, Type Iii 3-Methylglutaconic Aciduria, Type V
3-Methylglutaconic Aciduria, Type Viii 3-Methylglutaconic Aciduria, Type Ix

Diseases related to 3-Methylglutaconic Aciduria, Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 optic atrophy 1 35.3 MFN2 OPA1 OPA6
2 behr syndrome 33.0 OPA1 OPA3
3 3-methylglutaconic aciduria 31.4 AUH DNAJC19 OPA3 SERAC1 TMEM70
4 autosomal dominant optic atrophy plus syndrome 12.5
5 glaucomatous atrophy of optic disc 12.2
6 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 11.9
7 optic atrophy 3, autosomal dominant 11.2
8 leber hereditary optic neuropathy 11.2
9 leber congenital amaurosis 11.0
10 cranial nerve disease 10.8 MFN2 MT-ND4 OPA3 WFS1
11 3-methylglutaconic aciduria, type i 10.7 AUH DNAJC19 OPA3 TMEM70
12 spastic paraplegia 7, autosomal recessive 10.7 MFN2 MT-ND4 OPA1 SPG7
13 organic acidemia 10.7 BTD SERAC1 TMEM70
14 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 10.7 AUH DNAJC19 OPA3 SERAC1 TMEM70
15 3-methylglutaconic aciduria, type iv 10.7 AUH DNAJC19 OPA3 SERAC1 TMEM70
16 optic nerve disease 10.6 BTD MFN2 MT-ND4 OPA1 OPA3 WFS1
17 scotoma 10.6 MT-ND4 OPA1
18 3-methylglutaconic aciduria, type v 10.6 AUH DNAJC19 MT-ND4 OPA3 SERAC1 TMEM70
19 mitochondrial disorders 10.5 MT-ND4 OPA1 SPG7 TIMM8A
20 cortical blindness 10.3 MT-ND4 TIMM8A

Graphical network of the top 20 diseases related to 3-Methylglutaconic Aciduria, Type Iii:



Diseases related to 3-Methylglutaconic Aciduria, Type Iii
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Symptoms & Phenotypes for 3-Methylglutaconic Aciduria, Type Iii

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Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
spasticity
dysarthria
hyperreflexia
extrapyramidal signs
more
Laboratory Abnormalities:
increased urinary 3-methylglutaconic acid

Head And Neck Eyes:
optic atrophy
decreased visual acuity


Clinical features from OMIM:

258501

Human phenotypes related to 3-Methylglutaconic Aciduria, Type Iii:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
3 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
4 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
5 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
6 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
7 choreoathetosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001266
8 spastic paraparesis 59 32 frequent (33%) Frequent (79-30%) HP:0002313
9 3-methylglutaconic aciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003535
10 spasticity 32 HP:0001257
11 hyperreflexia 32 HP:0001347
12 chorea 32 HP:0002072
13 optic atrophy 32 HP:0000648
14 cognitive impairment 32 HP:0100543
15 babinski sign 32 HP:0003487
16 reduced visual acuity 32 HP:0007663
17 abnormality of extrapyramidal motor function 32 HP:0002071

UMLS symptoms related to 3-Methylglutaconic Aciduria, Type Iii:


ataxia, muscle spasticity, abnormality of extrapyramidal motor function
Sources

Drugs & Therapeutics for 3-Methylglutaconic Aciduria, Type Iii

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Drugs for 3-Methylglutaconic Aciduria, Type Iii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 87)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
2
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
3
Idebenone Approved, Investigational Phase 4,Phase 3,Phase 2 58186-27-9
4 Antacids Phase 4
5 Anti-Ulcer Agents Phase 4
6 Gastrointestinal Agents Phase 4,Phase 2
7 Proton Pump Inhibitors Phase 4
8 Antioxidants Phase 4,Phase 3,Phase 2
9 Protective Agents Phase 4,Phase 2,Phase 3
10
Curcumin Approved, Investigational Phase 3 458-37-7 969516
11
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
12
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
13
Iron Approved Phase 2, Phase 3 7439-89-6 23925
14
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
15
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
16 Antirheumatic Agents Phase 3,Phase 2
17 Anti-Infective Agents Phase 2, Phase 3
18 Hormone Antagonists Phase 2, Phase 3,Not Applicable
19 Hormones Phase 2, Phase 3,Not Applicable
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Not Applicable
21 Hypoglycemic Agents Phase 2, Phase 3,Not Applicable
22 Incretins Phase 2, Phase 3,Not Applicable
23 Analgesics Phase 3
24 Analgesics, Non-Narcotic Phase 3
25 Anti-Inflammatory Agents Phase 3,Phase 2
26 Anti-Inflammatory Agents, Non-Steroidal Phase 3
27 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1
28 Epoetin alfa Phase 3,Phase 2 113427-24-0
29 Hematinics Phase 3,Phase 2
30 Micronutrients Phase 3,Phase 2
31 Trace Elements Phase 3,Phase 2
32 Ubiquinone Phase 3,Phase 2
33 Anesthetics Phase 3,Phase 1,Phase 2
34 Central Nervous System Depressants Phase 3
35 Pharmaceutical Solutions Phase 3,Phase 2
36 Anti-Infective Agents, Local Phase 3
37 Antidotes Phase 2, Phase 3
38 Antiviral Agents Phase 2, Phase 3
39 Chelating Agents Phase 2, Phase 3
40 Dipeptidyl-Peptidase IV Inhibitors Phase 2, Phase 3
41 Expectorants Phase 2, Phase 3
42 HIV Protease Inhibitors Phase 2, Phase 3
43 Iron Chelating Agents Phase 2, Phase 3
44 N-monoacetylcystine Phase 2, Phase 3
45
protease inhibitors Phase 2, Phase 3
46 Respiratory System Agents Phase 2, Phase 3
47 Sitagliptin Phosphate Phase 2, Phase 3
48 Vitamin B Complex Phase 3
49 Vitamins Phase 3
50 Folate Nutraceutical Phase 3

Interventional clinical trials:

(show all 44)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Lansoprazole in Patients With Reflux Disease Completed NCT01135368 Phase 4 Lansoprazole
2 Study to Assess the Efficacy and Safety of Raxone in LHON Patients Recruiting NCT02774005 Phase 4 Idebenone
3 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3 curcumin
4 Erythropoietin in Methanol Associated Optic Neuropathy: A Phase-2 Clinical Trial (EPO-MAON Study) Recruiting NCT02376881 Phase 3 Erythropoietin
5 Efficacy and Safety Study of Bilateral Intravitreal Injection of GS010 for the Treatment of Vision Loss up to 1 Year From Onset in LHON Due to the ND4 Mutation Recruiting NCT03293524 Phase 3 Placebo
6 Treatment of Optic Neuritis With Erythropoietin: a Randomised, Double-blind, Placebo-controlled Trial Active, not recruiting NCT01962571 Phase 3 Erythropoietin alfa;Placebo
7 Safety and Efficacy Study of Gene Therapy for The Treatment of Leber's Hereditary Optic Neuropathy Active, not recruiting NCT03153293 Phase 2, Phase 3 rAAV2-ND4
8 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
9 Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 Mutation Active, not recruiting NCT02652767 Phase 3
10 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy Not yet recruiting NCT02882477 Phase 2, Phase 3 Deferiprone;Acetylcysteine;Sitagliptin and Metformin
11 Inositol to Reduce Retinopathy of Prematurity Terminated NCT01954082 Phase 3 myo-Inositol 5% Injection;Placebo
12 Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary Optic Neuropathy (LHON) Withdrawn NCT01495715 Phase 3 Idebenone;Placebo
13 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
14 Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy Unknown status NCT02176733 Phase 2 cyclosporine
15 Safety and Efficacy Study of Erythropoietin as add-on Therapy of Methylprednisolone to Treat Acute Optic Neuritis Completed NCT00355095 Phase 2 Erythropoietin
16 Study to Assess Efficacy,Safety and Tolerability of Idebenone in the Treatment of Leber's Hereditary Optic Neuropathy Completed NCT00747487 Phase 2 Idebenone;Placebo
17 A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome Recruiting NCT02829268 Phase 1, Phase 2 dantrolene sodium
18 A Study Investigating the Safety, Tolerability, and Efficacy of Elamipretide (MTP-131) Topical Ophthalmic Solution for the Treatment of Leber's Hereditary Optic Neuropathy Active, not recruiting NCT02693119 Phase 2 elamipretide (MTP-131) 1% topical ophthalmic solution;Vehicle topical ophthalmic solution
19 Safety Evaluation of Gene Therapy in Leber Hereditary Optic Neuropathy (LHON) Patients Active, not recruiting NCT02064569 Phase 1, Phase 2
20 Effectiveness and Safety of Adipose-Derived Regenerative Cells for Treatment of Glaucomatous Neurodegeneration Enrolling by invitation NCT02144103 Phase 1, Phase 2
21 Near-infrared Light-emitting Diode (NIR-LED) Therapy for Leber's Hereditary Optic Neuropathy (LHON) Terminated NCT01389817 Phase 1, Phase 2
22 Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION Patients Completed NCT01064505 Phase 1 QPI-1007 at various doses
23 Safety Study of an Adeno-associated Virus Vector for Gene Therapy of Leber's Hereditary Optic Neuropathy Recruiting NCT02161380 Phase 1 injection of scAAV2-P1ND4v2 5.00x10e9 vg (Low),;injection of scAAV2-P1ND4v2 2.46X10e10 vg (Med);injection of scAAV2-P1ND4v2 1.0X10e11vg (High)
24 Advanced Characterization of Autosomal Dominant Optic Atrophy Unknown status NCT01522638
25 Expression of Optic Atrophy Type 1 (OPA1) Protein in Lung Adenocarcinoma Unknown status NCT01249053
26 GLP Analogs for Diabetes in Wolfram Syndrome Patients Unknown status NCT01302327 Not Applicable Exenatide
27 Transcorneal Electrical Stimulation Therapy for Retinal Disease Completed NCT00804102 Not Applicable
28 Macular Appearance After Diabetic Vitrectomy Completed NCT00737022
29 Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey Completed NCT01892943
30 RHODOS Follow-up Single-visit Study Completed NCT01421381
31 Safety and Efficacy Study of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON) Completed NCT01267422 Not Applicable rAAV2-ND4
32 Shanghai High Myopia Study for Adults Recruiting NCT03446300
33 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541 Not Applicable
34 REALITY LHON Registry Recruiting NCT03295071
35 Stenting of Venous Sinus Stenosis for Medically Refractory Idiopathic Intracranial Hypertension Recruiting NCT02143258 Not Applicable
36 RESCUE and REVERSE Long-term Follow-up Recruiting NCT03406104
37 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
38 Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON) Recruiting NCT02796274
39 Post Authorisation Safety Study With Raxone in LHON Patients Recruiting NCT02771379 Idebenone
40 Wolfram Syndrome International Registry and Clinical Study Recruiting NCT02841553
41 New Non-invasive Modalities for Assessing Retinal Structure and Function Recruiting NCT03475173 Not Applicable
42 Tracking Neurodegeneration in Early Wolfram Syndrome Active, not recruiting NCT02455414
43 Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867 Not Applicable
44 Emergency Administration of EPI-743 to a Single Patient With Leber's Hereditary Optic Neuropathy [LHON] No longer available NCT02300753 EPI-743

Search NIH Clinical Center for 3-Methylglutaconic Aciduria, Type Iii

Cochrane evidence based reviews: optic atrophy

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Genetic Tests for 3-Methylglutaconic Aciduria, Type Iii

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Genetic tests related to 3-Methylglutaconic Aciduria, Type Iii:

# Genetic test Affiliating Genes
1 Optic Atrophy 29
2 3-Methylglutaconic Aciduria Type 3 29 OPA3
Sources

Anatomical Context for 3-Methylglutaconic Aciduria, Type Iii

About this section

MalaCards organs/tissues related to 3-Methylglutaconic Aciduria, Type Iii:

41
Eye, Brain, Lung, Bone, Skin, Testes, Retina
Sources

Publications for 3-Methylglutaconic Aciduria, Type Iii

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Articles related to 3-Methylglutaconic Aciduria, Type Iii:

(show top 50) (show all 644)
# Title Authors Year
1
Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene. ( 28820624 )
2018
2
Leber Optic Atrophy ( 29494105 )
2018
3
Refractory Giant Cell Arteritis Complicated by Vision Loss From Optic Atrophy and Maculopathy Associated With Pachymeningitis. ( 29059089 )
2018
4
A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders. ( 29340645 )
2018
5
Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation. ( 29410510 )
2018
6
Orphan disease: Cherubism, optic atrophy, and short stature. ( 29692538 )
2018
7
<i>GLS</i> loss of function causes autosomal recessive spastic ataxia and optic atrophy. ( 29468182 )
2018
8
Macular choroidal thickness and peripapillary retinal nerve fiber layer thickness in normal adults and patients with optic atrophy due to acute idiopathic demyelinating optic neuritis. ( 29856811 )
2018
9
Enhancing fatty acid utilization ameliorates mitochondrial fragmentation and cardiac dysfunction via rebalancing optic atrophy 1 processing in the failing heart. ( 29490017 )
2018
10
OCT-documented optic atrophy in nonsyndromic craniosynostosis and lacunar skull. ( 28087347 )
2017
11
Dominant Optic Atrophy and Leber's Hereditary Optic Neuropathy: Update on Clinical Features and Current Therapeutic Approaches. ( 28941528 )
2017
12
Compound Heterozygote Mutation of C12orf65 Causes Distal Motor Neuropathy and Optic Atrophy. ( 28091420 )
2017
13
Longitudinal optical coherence tomography study of optic atrophy in secondary progressive multiple sclerosis: Results from a clinical trial cohort. ( 29111873 )
2017
14
Retinal Vessel Density in Optical Coherence Tomography Angiography in Optic Atrophy after Nonarteritic Anterior Ischemic Optic Neuropathy. ( 28316838 )
2017
15
Optical coherence tomography angiography of the peripapillary retina and optic nerve head in dominant optic atrophy. ( 28286264 )
2017
16
CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. ( 28777376 )
2017
17
Atypical Tolosa Hunt syndrome with bilateral sclerokeratitis and optic atrophy in Takayasu's arteritis. ( 29503945 )
2017
18
Foveal hypoplasia in short stature with optic atrophy and Pelger-HuA<t anomaly syndrome with neuroblastoma-amplified sequence (NBAS) gene mutation. ( 28115293 )
2017
19
Mitofusin 1 and optic atrophy 1 shift metabolism to mitochondrial respiration during aging. ( 28758339 )
2017
20
A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy. ( 28369803 )
2017
21
Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. ( 27974645 )
2017
22
T-Cell Intracellular Antigens and Hu Antigen R Antagonistically Modulate Mitochondrial Activity and Dynamics by Regulating Optic Atrophy 1 Gene Expression. ( 28630277 )
2017
23
Optic atrophy 1 mediates coenzyme Q-responsive regulation of respiratory complex IV activity in brain mitochondria. ( 28890359 )
2017
24
Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay. ( 28841713 )
2017
25
OPA1 analysis in an international series of probands with bilateral optic atrophy. ( 27860320 )
2017
26
Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission. ( 28969390 )
2017
27
Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome. ( 28963436 )
2017
28
The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses. ( 28125838 )
2017
29
Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy. ( 28668999 )
2017
30
Multiethnic involvement in autosomal-dominant optic atrophy in Singapore. ( 27858935 )
2017
31
Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation. ( 28050599 )
2017
32
Incidental branch retinal artery occlusion on optical coherence tomography angiography presenting as segmental optic atrophy in a child: a case report. ( 29258533 )
2017
33
WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity. ( 27395765 )
2016
34
Extra Nodal Rosai-Dorfman Disease (Sinus Histiocytosis with Massive Lymphadenopathy) Presenting as Asymmetric Bilateral Optic Atrophy : An Atypical Ocular Presentation. ( 27091209 )
2016
35
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. ( 26986877 )
2016
36
Dominant optic atrophy: updates on the pathophysiology and clinical manifestations of the optic atrophy 1 mutation. ( 27585216 )
2016
37
Comment on: Childhood optic atrophy in biotinidase deficiency. ( 27688290 )
2016
38
Optic Atrophy 1 Is Epistatic to the Core MICOS Component MIC60 in Mitochondrial Cristae Shape Control. ( 27974214 )
2016
39
Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1. ( 27150940 )
2016
40
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. ( 27817865 )
2016
41
The reduction of temporal optic nerve head microcirculation in autosomal dominant optic atrophy. ( 26936288 )
2016
42
Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder. ( 26951855 )
2016
43
Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome). ( 27879217 )
2016
44
Optic Atrophy in a Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration. ( 26828840 )
2016
45
A novel heterozygous splice site OPA1 mutation causes exon 10 skipping in Japanese patients with dominant optic atrophy. ( 26854526 )
2016
46
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. ( 26783368 )
2016
47
SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy. ( 27430653 )
2016
48
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. ( 27679995 )
2016
49
Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations. ( 26875006 )
2016
50
Haemorrhagic putaminal necrosis, optic atrophy and coma: a triad suggestive of methanol poisoning. ( 27608349 )
2016
Sources

Variations for 3-Methylglutaconic Aciduria, Type Iii

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ClinVar genetic disease variations for 3-Methylglutaconic Aciduria, Type Iii:

6
(show top 50) (show all 314)
# Gene Variation Type Significance SNP ID Assembly Location
1 OPA3 NM_025136.3(OPA3): c.143-1G> C single nucleotide variant Pathogenic rs80356523 GRCh37 Chromosome 19, 46057170: 46057170
2 OPA3 NM_025136.3(OPA3): c.143-1G> C single nucleotide variant Pathogenic rs80356523 GRCh38 Chromosome 19, 45553912: 45553912
3 OPA3 NM_025136.3(OPA3): c.320_337del18 (p.Gln108_Glu113del) deletion Pathogenic rs80356526 GRCh37 Chromosome 19, 46056975: 46056992
4 OPA3 NM_025136.3(OPA3): c.320_337del18 (p.Gln108_Glu113del) deletion Pathogenic rs80356526 GRCh38 Chromosome 19, 45553717: 45553734
5 OPA3 NM_025136.3(OPA3): c.415C> T (p.Gln139Ter) single nucleotide variant Pathogenic rs28937899 GRCh37 Chromosome 19, 46056897: 46056897
6 OPA3 NM_025136.3(OPA3): c.415C> T (p.Gln139Ter) single nucleotide variant Pathogenic rs28937899 GRCh38 Chromosome 19, 45553639: 45553639
7 ISCA2 NM_194279.3(ISCA2): c.229G> A (p.Gly77Ser) single nucleotide variant Pathogenic/Likely pathogenic rs730882246 GRCh38 Chromosome 14, 74494329: 74494329
8 ISCA2 NM_194279.3(ISCA2): c.229G> A (p.Gly77Ser) single nucleotide variant Pathogenic/Likely pathogenic rs730882246 GRCh37 Chromosome 14, 74961032: 74961032
9 PIGQ NM_004204.3(PIGQ): c.619C> T (p.Arg207Ter) single nucleotide variant Likely pathogenic rs730882240 GRCh38 Chromosome 16, 574693: 574693
10 PIGQ NM_004204.3(PIGQ): c.619C> T (p.Arg207Ter) single nucleotide variant Likely pathogenic rs730882240 GRCh37 Chromosome 16, 624693: 624693
11 PMPCA NM_015160.2(PMPCA): c.1066G> A (p.Gly356Ser) single nucleotide variant Pathogenic rs768643552 GRCh37 Chromosome 9, 139313082: 139313082
12 PMPCA NM_015160.2(PMPCA): c.1066G> A (p.Gly356Ser) single nucleotide variant Pathogenic rs768643552 GRCh38 Chromosome 9, 136418630: 136418630
13 PMPCA NM_015160.2(PMPCA): c.1129G> A (p.Ala377Thr) single nucleotide variant Pathogenic rs753611141 GRCh38 Chromosome 9, 136418847: 136418847
14 PMPCA NM_015160.2(PMPCA): c.1129G> A (p.Ala377Thr) single nucleotide variant Pathogenic rs753611141 GRCh37 Chromosome 9, 139313299: 139313299
15 OPA3 NM_025136.3(OPA3): c.412G> A (p.Ala138Thr) single nucleotide variant Benign/Likely benign rs201574732 GRCh37 Chromosome 19, 46056900: 46056900
16 OPA3 NM_025136.3(OPA3): c.412G> A (p.Ala138Thr) single nucleotide variant Benign/Likely benign rs201574732 GRCh38 Chromosome 19, 45553642: 45553642
17 OPA3 NM_025136.3(OPA3): c.*7181G> A single nucleotide variant Likely benign rs74253369 GRCh38 Chromosome 19, 45546333: 45546333
18 OPA3 NM_025136.3(OPA3): c.*7181G> A single nucleotide variant Likely benign rs74253369 GRCh37 Chromosome 19, 46049591: 46049591
19 OPA3 NM_025136.3(OPA3): c.*6674T> C single nucleotide variant Uncertain significance rs534603782 GRCh38 Chromosome 19, 45546840: 45546840
20 OPA3 NM_025136.3(OPA3): c.*6674T> C single nucleotide variant Uncertain significance rs534603782 GRCh37 Chromosome 19, 46050098: 46050098
21 OPA3 NM_025136.3(OPA3): c.*6012A> G single nucleotide variant Benign rs11083772 GRCh38 Chromosome 19, 45547502: 45547502
22 OPA3 NM_025136.3(OPA3): c.*6012A> G single nucleotide variant Benign rs11083772 GRCh37 Chromosome 19, 46050760: 46050760
23 OPA3 NM_025136.3(OPA3): c.*5783G> A single nucleotide variant Likely benign rs550679720 GRCh38 Chromosome 19, 45547731: 45547731
24 OPA3 NM_025136.3(OPA3): c.*5783G> A single nucleotide variant Likely benign rs550679720 GRCh37 Chromosome 19, 46050989: 46050989
25 OPA3 NM_025136.3(OPA3): c.*5774G> C single nucleotide variant Uncertain significance rs886054510 GRCh37 Chromosome 19, 46050998: 46050998
26 OPA3 NM_025136.3(OPA3): c.*5774G> C single nucleotide variant Uncertain significance rs886054510 GRCh38 Chromosome 19, 45547740: 45547740
27 OPA3 NM_025136.3(OPA3): c.*5496C> T single nucleotide variant Uncertain significance rs886054511 GRCh38 Chromosome 19, 45548018: 45548018
28 OPA3 NM_025136.3(OPA3): c.*5496C> T single nucleotide variant Uncertain significance rs886054511 GRCh37 Chromosome 19, 46051276: 46051276
29 OPA3 NM_025136.3(OPA3): c.*4954C> T single nucleotide variant Uncertain significance rs146646433 GRCh37 Chromosome 19, 46051818: 46051818
30 OPA3 NM_025136.3(OPA3): c.*4954C> T single nucleotide variant Uncertain significance rs146646433 GRCh38 Chromosome 19, 45548560: 45548560
31 OPA3 NM_025136.3(OPA3): c.*4949G> A single nucleotide variant Likely benign rs544881797 GRCh38 Chromosome 19, 45548565: 45548565
32 OPA3 NM_025136.3(OPA3): c.*4949G> A single nucleotide variant Likely benign rs544881797 GRCh37 Chromosome 19, 46051823: 46051823
33 OPA3 NM_025136.3(OPA3): c.*4857A> T single nucleotide variant Benign rs4803833 GRCh38 Chromosome 19, 45548657: 45548657
34 OPA3 NM_025136.3(OPA3): c.*4857A> T single nucleotide variant Benign rs4803833 GRCh37 Chromosome 19, 46051915: 46051915
35 OPA3 NM_025136.3(OPA3): c.*4853T> A single nucleotide variant Uncertain significance rs886054516 GRCh38 Chromosome 19, 45548661: 45548661
36 OPA3 NM_025136.3(OPA3): c.*4853T> A single nucleotide variant Uncertain significance rs886054516 GRCh37 Chromosome 19, 46051919: 46051919
37 OPA3 NM_025136.3(OPA3): c.*4147_*4151delCCCTG deletion Benign rs68079762 GRCh37 Chromosome 19, 46052621: 46052625
38 OPA3 NM_025136.3(OPA3): c.*4147_*4151delCCCTG deletion Benign rs68079762 GRCh38 Chromosome 19, 45549363: 45549367
39 OPA3 NM_025136.3(OPA3): c.*3874G> A single nucleotide variant Likely benign rs62109650 GRCh38 Chromosome 19, 45549640: 45549640
40 OPA3 NM_025136.3(OPA3): c.*3874G> A single nucleotide variant Likely benign rs62109650 GRCh37 Chromosome 19, 46052898: 46052898
41 OPA3 NM_025136.3(OPA3): c.*3496C> G single nucleotide variant Uncertain significance rs749084024 GRCh38 Chromosome 19, 45550018: 45550018
42 OPA3 NM_025136.3(OPA3): c.*3496C> G single nucleotide variant Uncertain significance rs749084024 GRCh37 Chromosome 19, 46053276: 46053276
43 OPA3 NM_025136.3(OPA3): c.*3353_*3357delTCTTT deletion Likely benign rs373580645 GRCh38 Chromosome 19, 45550157: 45550161
44 OPA3 NM_025136.3(OPA3): c.*3353_*3357delTCTTT deletion Likely benign rs373580645 GRCh37 Chromosome 19, 46053415: 46053419
45 OPA3 NM_025136.3(OPA3): c.*3222C> T single nucleotide variant Likely benign rs73568980 GRCh37 Chromosome 19, 46053550: 46053550
46 OPA3 NM_025136.3(OPA3): c.*3222C> T single nucleotide variant Likely benign rs73568980 GRCh38 Chromosome 19, 45550292: 45550292
47 OPA3 NM_025136.3(OPA3): c.*3114_*3116dupAGC duplication Benign rs542311224 GRCh38 Chromosome 19, 45550398: 45550400
48 OPA3 NM_025136.3(OPA3): c.*3114_*3116dupAGC duplication Benign rs542311224 GRCh37 Chromosome 19, 46053656: 46053658
49 OPA3 NM_025136.3(OPA3): c.*3038G> A single nucleotide variant Likely benign rs73568982 GRCh38 Chromosome 19, 45550476: 45550476
50 OPA3 NM_025136.3(OPA3): c.*3038G> A single nucleotide variant Likely benign rs73568982 GRCh37 Chromosome 19, 46053734: 46053734

Copy number variations for 3-Methylglutaconic Aciduria, Type Iii from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 173060 3 189400000 193800000 Deletion OPA1 Optic atrophy
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Expression for 3-Methylglutaconic Aciduria, Type Iii

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Search GEO for disease gene expression data for 3-Methylglutaconic Aciduria, Type Iii.
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Pathways for 3-Methylglutaconic Aciduria, Type Iii

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Pathways related to 3-Methylglutaconic Aciduria, Type Iii according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Mitochondrial protein import 66
10.59 DNAJC19 PMPCA TIMM8A
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GO Terms for 3-Methylglutaconic Aciduria, Type Iii

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Cellular components related to 3-Methylglutaconic Aciduria, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.56 C19orf70 DNAJC19 MT-ND4 OPA1 PMPCA SPG7
2 mitochondrial matrix GO:0005759 9.46 AUH BTD ISCA2 PMPCA
3 mitochondrion GO:0005739 9.44 AUH C19orf70 DNAJC19 ISCA2 MFN2 MT-ND4

Biological processes related to 3-Methylglutaconic Aciduria, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein targeting to mitochondrion GO:0006626 9.37 DNAJC19 MFN2
2 mitochondrial calcium ion transmembrane transport GO:0006851 9.32 PMPCA SPG7
3 mitochondrion morphogenesis GO:0070584 9.26 OPA1 OPA3
4 mitochondrial fusion GO:0008053 9.16 MFN2 OPA1
5 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 8.96 OPA1 WFS1
6 visual perception GO:0007601 8.92 DNAJC19 OPA1 OPA3 WFS1
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Sources for 3-Methylglutaconic Aciduria, Type Iii

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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