MGCA3
MCID: 3MT016
MIFTS: 64

3-Methylglutaconic Aciduria, Type Iii (MGCA3)

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

Aliases & Classifications for 3-Methylglutaconic Aciduria, Type Iii

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

Name: 3-Methylglutaconic Aciduria, Type Iii 57 41 13 40
Optic Atrophy 12 75 37 29 55 6 44 15 72 33
3-Methylglutaconic Aciduria Type 3 12 24 25 59 29 6 15 72
Costeff Syndrome 57 12 24 25 59 74
Costeff Optic Atrophy Syndrome 12 24 25 59 74
Mga3 57 12 25 59 74
Optic Atrophy Plus Syndrome 57 24 25 74
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 74
Optic Atrophy, Infantile, with Chorea and Spastic Paraplegia 57
3-Alpha-Methylglutaconic Aciduria Type 3 74
Optic Atrophy 3, Autosomal Recessive 57
Autosomal Recessive Optic Atrophy 3 25
Optic Atrophy 3 Autosomal Recessive 74
Iraqi-Jewish 'optic Atrophy Plus' 57
Iraqi-Jewish Optic Atrophy Plus 12
Iraqi Jewish Optic Atrophy Plus 25
3-Methylglutaconic Aciduria 3 74
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 74
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:



External Ids:

Disease Ontology 12 DOID:0110004 DOID:5723
KEGG 37 H01020
ICD9CM 35 377.1 377.10
NCIt 50 C34863
SNOMED-CT 68 76976005
MESH via Orphanet 45 C535311
ICD10 via Orphanet 34 E71.1
UMLS via Orphanet 73 C0574084
Orphanet 59 ORPHA67047
MedGen 42 C0574084
UMLS 72 C0029124 C0574084

Summaries for 3-Methylglutaconic Aciduria, Type Iii

Genetics Home Reference : 25 Costeff syndrome is an inherited condition characterized by vision loss, delayed development, and movement problems. Vision loss is primarily caused by 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 impairment 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). Development of motor skills, such as walking, is often delayed in people with Costeff syndrome. Affected individuals may also have speech difficulties (dysarthria). While some people with Costeff syndrome have mild to moderate intellectual disability, many have normal intelligence. Movement problems in people with Costeff syndrome develop in late childhood and include muscle stiffness (spasticity), impaired muscle coordination (ataxia), and involuntary jerking movements (choreiform movements). As a result of these movement difficulties, individuals with Costeff syndrome may require wheelchair assistance. Costeff syndrome is associated with increased levels of a substance called 3-methylglutaconic acid in the urine (3-methylglutaconic aciduria). The amount of this substance does not appear to influence the signs and symptoms of the condition. Costeff syndrome is one of a group of metabolic disorders that can be diagnosed by the presence of 3-methylglutaconic aciduria. People with Costeff syndrome also have high levels of another acid called 3-methylglutaric acid in their urine.

MalaCards based summary : 3-Methylglutaconic Aciduria, Type Iii, also known as optic atrophy, is related to optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy and mohr-tranebjaerg syndrome, and has symptoms including ataxia, abnormality of extrapyramidal motor function and muscle spasticity. An important gene associated with 3-Methylglutaconic Aciduria, Type Iii is OPA3 (Outer Mitochondrial Membrane Lipid Metabolism Regulator OPA3), and among its related pathways/superpathways is Mitochondrial protein import. The drugs Idebenone and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and pituitary, and related phenotypes are visual impairment and choreoathetosis

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)

KEGG : 37
Hereditary optic atrophy (OPA) is a group of neurodegenerative disorders characterized by a sudden or gradual loss of retinal ganglion cells function. OPA results from degeneration of the retinal ganglion cells whose axons form the optic nerve. Symptoms include a variable association of decreased visual acuity, visual field defects, and color vision abnormalities. All nonsyndromic OPAs characterized to date result from defects in genes encoding mitochondria-related proteins. The most frequent forms of nonsyndromic OPA are autosomal dominant OPA1-linked OPA (OPA1) and mitochondrial DNA-linked, maternally inherited Leber hereditary optic neuropathy (LHON). By contrast, autosomal recessive forms of optic atrophies (arOAs) are less frequent, and most cases are syndromic (e.g., OPA3 and OPA7). Isolated or nonsyndromic arOAs are believed to be extremely rare.

UniProtKB/Swiss-Prot : 74 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.

Wikipedia : 75 Optic neuropathy is damage to the optic nerve from any cause. Damage and death of these nerve cells, or... more...

GeneReviews: NBK1473

Related Diseases for 3-Methylglutaconic Aciduria, Type Iii

Diseases in the 3-Methylglutaconic Aciduria, Type Iii family:

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

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

(show top 50) (show all 613)
# Related Disease Score Top Affiliating Genes
1 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 34.4 OPA3 OPA1
2 mohr-tranebjaerg syndrome 33.7 TIMM8A SERAC1
3 behr syndrome 33.4 OPA3 OPA1
4 optic atrophy 1 33.1 OPA6 OPA1 MFN2
5 3-methylglutaconic aciduria, type i 32.8 TMEM70 SERAC1 OPA3 DNAJC19 AUH
6 3-methylglutaconic aciduria, type v 32.7 TMEM70 SERAC1 OPA3 MT-ND4 DNAJC19 AUH
7 optic nerve disease 31.9 WFS1 OPA3 OPA1 MT-ND4 MFN2 BTD
8 3-methylglutaconic aciduria 31.6 TMEM70 SERAC1 OPA3 DNAJC19 AUH
9 peripheral nervous system disease 31.5 WFS1 MT-ND4 MFN2
10 scotoma 31.3 OPA1 MT-ND4
11 spastic paraplegia 7, autosomal recessive 31.1 OPA1 MT-ND4 MFN2 AFG3L2
12 mitochondrial metabolism disease 31.0 TIMM8A SERAC1 OPA1 MT-ND4
13 dystonia 30.8 TIMM8A SERAC1 MT-ND4 MECR
14 organic acidemia 30.5 TMEM70 SERAC1 OPA3 BTD
15 leber optic atrophy 12.9
16 optic atrophy 2 12.8
17 optic atrophy 7 with or without auditory neuropathy 12.8
18 autosomal dominant optic atrophy plus syndrome 12.8
19 spastic paraplegia, optic atrophy, and neuropathy 12.8
20 bosch-boonstra-schaaf optic atrophy syndrome 12.7
21 optic atrophy 5 12.7
22 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 12.7
23 optic atrophy 11 12.7
24 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 12.7
25 neuropathy, hereditary motor and sensory, type via, with optic atrophy 12.7
26 neuropathy, hereditary motor and sensory, type vib, with optic atrophy 12.6
27 auditory neuropathy and optic atrophy 12.6
28 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive 12.6
29 encephalopathy, progressive, with amyotrophy and optic atrophy 12.6
30 cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 12.6
31 optic atrophy 8 12.6
32 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy 12.6
33 optic atrophy 9 12.5
34 optic atrophy 10 with or without ataxia, mental retardation, and seizures 12.5
35 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation 12.5
36 leber optic atrophy and dystonia 12.5
37 autosomal recessive isolated optic atrophy 12.5
38 glaucomatous atrophy of optic disc 12.5
39 optic atrophy 6 12.5
40 neuropathy, hereditary motor and sensory, type vic, with optic atrophy 12.5
41 primary optic atrophy 12.4
42 partial optic atrophy 12.4
43 optic atrophy 4 12.4
44 optic atrophy--spastic paraplegia syndrome 12.4
45 metaphyseal dysplasia, anetoderma, and optic atrophy 12.4
46 spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder 12.4
47 autosomal dominant optic atrophy and peripheral neuropathy 12.4
48 wolfram syndrome 12.3
49 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant 12.3
50 optic atrophy with negative electroretinograms 12.3

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



Diseases related to 3-Methylglutaconic Aciduria, Type Iii

Symptoms & Phenotypes for 3-Methylglutaconic Aciduria, Type Iii

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

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
2 choreoathetosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001266
3 3-methylglutaconic aciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003535
4 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
5 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
6 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
7 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
8 spastic paraparesis 59 32 frequent (33%) Frequent (79-30%) HP:0002313
9 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
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

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

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


ataxia, abnormality of extrapyramidal motor function, muscle spasticity

Drugs & Therapeutics for 3-Methylglutaconic Aciduria, Type Iii

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

(show top 50) (show all 80)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Idebenone Approved, Investigational Phase 4 58186-27-9
2 Antioxidants Phase 4
3 Protective Agents Phase 4
4
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
5
Metformin Approved Phase 2, Phase 3 657-24-9 4091 14219
6
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
7
Iron Approved, Experimental Phase 2, Phase 3 15438-31-0, 7439-89-6 23925 27284
8
Curcumin Approved, Experimental, Investigational Phase 3 458-37-7 969516
9
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
10 Anti-Infective Agents Phase 2, Phase 3
11 Hormones Phase 2, Phase 3
12 Incretins Phase 2, Phase 3
13 Hormone Antagonists Phase 2, Phase 3
14 Hypoglycemic Agents Phase 2, Phase 3
15 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
16 Dipeptidyl-Peptidase IV Inhibitors Phase 2, Phase 3
17 Respiratory System Agents Phase 2, Phase 3
18 Sitagliptin Phosphate Phase 2, Phase 3
19 Antidotes Phase 2, Phase 3
20 HIV Protease Inhibitors Phase 2, Phase 3
21 Chelating Agents Phase 2, Phase 3
22 Free Radical Scavengers Phase 2, Phase 3
23
protease inhibitors Phase 2, Phase 3
24 Iron Chelating Agents Phase 2, Phase 3
25 N-monoacetylcystine Phase 2, Phase 3
26 Expectorants Phase 2, Phase 3
27 Antiviral Agents Phase 2, Phase 3
28 Analgesics Phase 3
29 Anti-Inflammatory Agents Phase 3
30 Analgesics, Non-Narcotic Phase 3
31 Anti-Inflammatory Agents, Non-Steroidal Phase 3
32 Antirheumatic Agents Phase 3
33 Antihypertensive Agents Phase 3
34 Endothelin Receptor Antagonists Phase 3
35 Pharmaceutical Solutions Phase 3
36 Central Nervous System Depressants Phase 3
37 Anesthetics Phase 3
38 Anti-Infective Agents, Local Phase 3
39 Hematinics Phase 3
40 Epoetin alfa Phase 3 113427-24-0
41
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
42
Coal tar Approved Phase 1, Phase 2 8007-45-2
43
Dantrolene Approved, Investigational Phase 1, Phase 2 7261-97-4 2952 6914273
44 Antifungal Agents Phase 2
45 Immunosuppressive Agents Phase 2
46 Cyclosporins Phase 2
47 Immunologic Factors Phase 2
48 Dermatologic Agents Phase 2
49 Calcineurin Inhibitors Phase 2
50 Peripheral Nervous System Agents Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 51)
# Name Status NCT ID Phase Drugs
1 External Natural History Controlled, Open-Label Intervention Study to Assess the Efficacy and Safety of Long-Term Treatment With Raxone® in Leber's Hereditary Optic Neuropathy (LHON) Active, not recruiting NCT02774005 Phase 4 Idebenone
2 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone, and Incretin Based Therapy Unknown status NCT02882477 Phase 2, Phase 3 Deferiprone;Acetylcysteine;Sitagliptin and Metformin
3 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3 curcumin
4 Randomized, Double-Masked, Sham-Controlled Clinical Trial to Evaluate the Efficacy of a Single Intravitreal Injection of GS010 in Subjects Affected for More Than 6 Months and To 12 Months by LHON Due to the G11778A Mutation in the ND4 Gene Completed NCT02652780 Phase 3
5 Effect of Bosentan in Patients With Non Arteritic Ischemic Optic Neuropathy Recruiting NCT02377271 Phase 3 bosentan;placebo
6 Efficacy and Safety of Bilateral Intravitreal Injection of GS010: A Randomized, Double-Masked, Placebo-Controlled Trial in Subjects Affected With G11778A ND4 Leber Hereditary Optic Neuropathy for Up to One Year Active, not recruiting NCT03293524 Phase 3 Placebo
7 A Randomized, Double-Masked, Sham-Controlled Clinical Trial to Evaluate the Efficacy of a Single Intravitreal Injection of GS010 in Subjects Affected for 6 Months or Less by LHON Due to the G11778A Mutation in the Mitochondrial ND4 Gene Active, not recruiting NCT02652767 Phase 3
8 Erythropoietin in Methanol Associated Optic Neuropathy Active, not recruiting NCT02376881 Phase 3 Erythropoietin
9 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
10 Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary Optic Neuropathy (LHON) Withdrawn NCT01495715 Phase 3 Idebenone;Placebo
11 Study the Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Optic Nerve Disease. It is Self Funded (Patients' Own Funding) Clinical Trial Unknown status NCT01834079 Phase 1, Phase 2
12 Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy Unknown status NCT02176733 Phase 2 cyclosporine
13 A Double-Blind, Randomised, Placebo-Controlled Study of the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Patients With Leber's Hereditary Optic Neuropathy Completed NCT00747487 Phase 2 Idebenone;Placebo
14 A Double-blind, Randomized, Placebo-controlled, Clinical Trial to Test the Efficacy of Epoetin Alfa on Physical Performance of Friedreich Ataxia Patients. Completed NCT01493973 Phase 2 Epoetin alfa;Placebo
15 Autologous Adult Human Mesenchymal Stem Cells: a Neuroprotective Therapy for Multiple Sclerosis Completed NCT00395200 Phase 1, Phase 2
16 A Phase 1b Safety Trial of Dantronele Sodium in Pediatric and Adult Patients With Wolfram Syndrome Recruiting NCT02829268 Phase 1, Phase 2 dantrolene sodium
17 The Nutritional Supplement Phosphatidylserine in Patients With Familial Recruiting NCT02276716 Phase 2 Phosphatidylserine
18 An Open Label Dose Escalation Clinical Trial to Evaluate the Safety and the Tolerability of GS010 (rAAV2/2-ND4) in Patients With Leber Hereditary Optic Neuropathy Due to Mutations in the Mitochondrial NADH Dehydrogenase 4 Gene Active, not recruiting NCT02064569 Phase 1, Phase 2
19 A Prospective, Randomized, Double-Masked, Vehicle Controlled, Phase 2 Clinical Study to Evaluate the Safety, Tolerability and Efficacy of Elamipretide (MTP-131) Topical Ophthalmic Solution in Subjects With Leber's Hereditary Optic Neuropathy (LHON) Active, not recruiting NCT02693119 Phase 2 elamipretide (MTP-131) 1% topical ophthalmic solution;Vehicle topical ophthalmic solution
20 Near-infrared Light-emitting Diode (NIR-LED) Therapy for Leber's Hereditary Optic Neuropathy (LHON) Terminated NCT01389817 Phase 1, Phase 2
21 A Phase I Open-Label, Dose Escalation Trial of QPI-1007 Delivered by a Single Intravitreal Injection to Patients With Optic Nerve Atrophy (Stratum I) and Acute Non-Arteritic Anterior Ischemic Optic Neuropathy (NAION) (Stratum II) Completed NCT01064505 Phase 1 QPI-1007 at various doses
22 An Open-label Dose Escalation Study of an Adeno-associated Virus Vector (scAAV2-P1ND4v2) for Gene Therapy of Leber's Hereditary Optic Neuropathy (LHON) Caused by the G11778A Mutation in Mitochondrial DNA Recruiting NCT02161380 Phase 1 injection of scAAV2-P1ND4v2 1.18x10e9 vg (Low),;injection of scAAV2-P1ND4v2 5.81 X10e9 vg (Med);injection of scAAV2-P1ND4v2 2.4 X10e10vg (High);injection of scAAV2-P1ND4v2 1.0 X10e11vg (Higher)
23 Cross Sectional Study of Autosomal Dominant Opticus Atrophy Unknown status NCT01522638
24 Expression of Optic Atrophy Type 1 (OPA1) Protein in Lung Adenocarcinoma Unknown status NCT01249053
25 GLP Analogs for Diabetes in Wolfram Syndrome Patients Unknown status NCT01302327 Exenatide
26 Stenting of Venous Sinus Stenosis for Medically Refractory Idiopathic Intracranial Hypertension Unknown status NCT02143258
27 Transcorneal Electrical Stimulation Therapy for Retinal Disease - A Randomized, Single-blind Pilot Study Completed NCT00804102
28 A Single Visit, Observational, Follow-up Study of Patients With Leber's Hereditary Optic Neuropathy Following Participation in SNT-II-003 Trial Completed NCT01421381
29 Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON) Completed NCT02796274
30 Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey Completed NCT01892943
31 Safety and Efficacy Study of a Single Intravitreal Injection of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy Completed NCT01267422 rAAV2-ND4
32 Identification of Biomarkers in Patients With Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
33 Macular Appearance After Diabetic Vitrectomy for Fibrovascular Proliferation -An Optical Coherence Tomography Study Completed NCT00737022
34 Evaluation of Refractive Status and Ophthalmological Problems of Prematurity Completed NCT01045616
35 Oral Vitamin B12 as Potential Treatment of Recurrent Aphthous Stomatitis Completed NCT00288769 daily sublingual tablets Vitamin B12 1000 mcg versus placebo
36 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
37 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
38 Long-term Follow-up of ND4 LHON Subjects Treated With GS010 Ocular Gene Therapy in the RESCUE or REVERSE Phase III Clinical Trials Recruiting NCT03406104
39 Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients Recruiting NCT03295071
40 New Non-invasive Modalities for Assessing Retinal Structure and Function:Preliminary Investigation Recruiting NCT03475173
41 A Non-interventional Study of Clinical Experience in Patients Prescribed Raxone® for the Treatment of Leber's Hereditary Optic Neuropathy (LHON) Recruiting NCT02771379 Idebenone
42 The Cohort Study of Early Visual Impairment Mechanism Caused by Change of Fundus Structure in Adults With High Myopia Recruiting NCT03446300
43 International Tracking Neurodegeneration in Early Wolfram Syndrome Recruiting NCT03951298
44 Pilot Study for the Development of a Cortical Visual Neuroprosthesis for the Blind Based on Intracortical Microelectrodes Recruiting NCT02983370
45 Wolfram Syndrome International Registry and Clinical Study Recruiting NCT02841553
46 Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls Recruiting NCT01432847
47 Natural History of ATP1A3-related Disease: a Deep Phenotyping-genotyping Project Active, not recruiting NCT03857607
48 EAP Single Patient: Safety of Bilateral Intravitreal Injection of GS010 in a Single Subject Affected With G11778A ND4 Leber Hereditary Optic Neuropathy Available NCT03672968
49 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867
50 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

Genetic Tests for 3-Methylglutaconic Aciduria, Type Iii

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

Anatomical Context for 3-Methylglutaconic Aciduria, Type Iii

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

41
Eye, Brain, Pituitary, Testes, Bone, Retina, Heart

Publications for 3-Methylglutaconic Aciduria, Type Iii

Articles related to 3-Methylglutaconic Aciduria, Type Iii:

(show top 50) (show all 4067)
# Title Authors PMID 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. 9 38 4 8 71
11668429 2001
2
3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. 38 4 8 71
12126933 2002
3
3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome. 38 4 8
7510656 1994
4
Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene. 9 38 8
9097959 1997
5
A missense mutation in the murine Opa3 gene models human Costeff syndrome. 9 38 4
18222992 2008
6
OPA3-Related 3-Methylglutaconic Aciduria 38 71
20301646 2006
7
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. 9 38 4
15902555 2005
8
Behr's syndrome and 3-methylglutaconic aciduria. 38 8
1384336 1992
9
3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4'). 38 8
1382150 1992
10
A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. 38 8
2494568 1989
11
Costeff optic atrophy syndrome: new clinical case and novel molecular findings. 38 4
18985435 2008
12
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. 38 4
15342707 2004
13
Musculoskeletal deformities in Behr syndrome. 38 4
11433166 2001
14
3-Methyl glutaconic aciduria in Iraqi Jewish children may be misdiagnosed as cerebral palsy. 38 4
9553953 1998
15
Ineffectiveness of oral coenzyme Q10 supplementation in 3-methylglutaconic aciduria, type 3. 38 4
9533558 1998
16
Behr syndrome. 8
7538304 1995
17
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. 4
23296368 2013
18
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. 4
23355087 2013
19
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. 9 38
20350831 2010
20
Phenotypic spectrum of MFN2 mutations in the Spanish population. 9 38
19889647 2010
21
OPA1-associated disorders: phenotypes and pathophysiology. 9 38
19389487 2009
22
OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background. 9 38
19619285 2009
23
Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect. 9 38
19325939 2009
24
Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. 9 38
18946002 2008
25
Sporadic bilateral optic neuropathy in children: the role of mitochondrial abnormalities. 9 38
18676632 2008
26
Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findings. 9 38
18996695 2008
27
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function. 9 38
18678599 2008
28
Association study of the effect of WFS1 polymorphisms on risk of type 2 diabetes in Japanese population. 9 38
19258739 2008
29
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1. 9 38
18688868 2008
30
Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene. 9 38
18544103 2008
31
Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program. 9 38
18060660 2008
32
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. 9 38
18158317 2008
33
Sodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress. 9 38
17947299 2008
34
The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment. 9 38
18193945 2008
35
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. 9 38
17846994 2007
36
Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome. 9 38
17568405 2007
37
[A novel mutation of the OPA1 gene responsible for isolated autosomal dominant optic atrophy in two brothers]. 9 38
17318099 2007
38
WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum. 9 38
16989814 2006
39
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. 4
16055927 2006
40
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. 9 38
16648378 2006
41
Mitochondrial dynamics and disease, OPA1. 9 38
16737747 2006
42
Novel OPA1 mutations identified in Japanese pedigrees with optic atrophy. 9 38
16735988 2006
43
Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy. 9 38
16513463 2006
44
3-methylglutaconic aciduria disorders: the clinical spectrum increases. 4
16462574 2006
45
Myeloid dysplasia in familial 3-methylglutaconic aciduria. 4
16462576 2006
46
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. 9 38
16437557 2006
47
[An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs]. 9 38
15924081 2005
48
OPA1, associated with autosomal dominant optic atrophy, is widely expressed in the human brain. 9 38
15700187 2005
49
3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features. 4
15719488 2005
50
Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. 9 38
15531309 2004

Variations for 3-Methylglutaconic Aciduria, Type Iii

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

6 (show top 50) (show all 204)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ACP6 ; BCL9 ; CHD1L ; FMO5 ; GJA5 ; GJA8 ; GPR89B ; PRKAB2 GRCh37/hg19 1q21.1-21.2(chr1: 146618988-147824207) copy number gain Pathogenic 1:146618988-147824207 :0-0
2 OPA3 NM_001017989.3(OPA3): c.143-24456G> C single nucleotide variant Pathogenic rs80356523 19:46057170-46057170 19:45553912-45553912
3 OPA3 NM_001017989.3(OPA3): c.143-24285C> G single nucleotide variant Pathogenic rs80356525 19:46056999-46056999 19:45553741-45553741
4 OPA3 NM_001017989.3(OPA3): c.143-24276_143-24259del deletion Pathogenic rs80356526 19:46056975-46056992 19:45553717-45553734
5 PMPCA NM_015160.3(PMPCA): c.1066G> A (p.Gly356Ser) single nucleotide variant Pathogenic rs768643552 9:139313082-139313082 9:136418630-136418630
6 PMPCA NM_015160.3(PMPCA): c.1129G> A (p.Ala377Thr) single nucleotide variant Pathogenic rs753611141 9:139313299-139313299 9:136418847-136418847
7 AFG3L2 NM_006796.2(AFG3L2): c.1402C> T (p.Arg468Cys) single nucleotide variant Pathogenic 18:12351329-12351329 18:12351330-12351330
8 ISCA2 NM_194279.4(ISCA2): c.229G> A (p.Gly77Ser) single nucleotide variant Pathogenic/Likely pathogenic rs730882246 14:74961032-74961032 14:74494329-74494329
9 MECR NM_016011.5(MECR): c.855T> G (p.Tyr285Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1057519286 1:29522746-29522746 1:29196234-29196234
10 MECR NM_016011.5(MECR): c.854A> G (p.Tyr285Cys) single nucleotide variant Pathogenic/Likely pathogenic rs759218713 1:29522747-29522747 1:29196235-29196235
11 MECR NM_016011.4(MECR): c.772C> T (p.Arg258Trp) single nucleotide variant Pathogenic/Likely pathogenic rs145192716 1:29527086-29527086 1:29200574-29200574
12 MECR NM_016011.5(MECR): c.247_250del (p.Asn83fs) deletion Pathogenic/Likely pathogenic rs1057519287 1:29543124-29543127 1:29216612-29216615
13 MECR NM_016011.4(MECR): c.830+2dup duplication Pathogenic/Likely pathogenic rs756421370 1:29527026-29527026 1:29200514-29200514
14 OPA3 NM_001017989.3(OPA3): c.143-24059A> G single nucleotide variant Likely pathogenic rs1057516497 19:46056773-46056773 19:45553515-45553515
15 OAT NM_000274.3(OAT): c.875A> G (p.Lys292Arg) single nucleotide variant Likely pathogenic rs1057518927 10:126091521-126091521 10:124402952-124402952
16 MECR NM_016011.5(MECR): c.695G> A (p.Gly232Glu) single nucleotide variant Likely pathogenic rs762913101 1:29528516-29528516 1:29202004-29202004
17 OPA3 NM_001017989.3(OPA3): c.143-24384A> G single nucleotide variant Likely pathogenic rs1382779104 19:46057098-46057098 19:45553840-45553840
18 PIGQ NM_004204.4(PIGQ): c.619C> T (p.Arg207Ter) single nucleotide variant Likely pathogenic rs730882240 16:624693-624693 16:574693-574693
19 OPA3 NM_001017989.3(OPA3): c.143-24183C> T single nucleotide variant Likely pathogenic rs28937899 19:46056897-46056897 19:45553639-45553639
20 OPA3 NM_001017989.3(OPA3): c.142+1G> A single nucleotide variant Likely pathogenic rs1555736793 19:46087880-46087880 19:45584622-45584622
21 OPA3 NM_001017989.3(OPA3): c.143-24381dup duplication Likely pathogenic rs1555732963 19:46057094-46057094 19:45553837-45553837
22 OPA3 NM_001017989.3(OPA3): c.100dup (p.Ser34fs) duplication Likely pathogenic rs1555736803 19:46087922-46087922 19:45584665-45584665
23 OPA3 NM_001017989.3(OPA3): c.61A> T (p.Lys21Ter) single nucleotide variant Likely pathogenic rs1555736814 19:46087962-46087962 19:45584704-45584704
24 OPA3 NM_001017989.3(OPA3): c.143-19362ATAA[8] short repeat Conflicting interpretations of pathogenicity rs58537694 19:46052049-46052052 19:45548791-45548794
25 OPA3 NM_001017989.3(OPA3): c.143-19346del deletion Uncertain significance rs886054518 19:46052060-46052060 19:45548802-45548802
26 OPA3 NM_001017989.3(OPA3): c.143-16962_143-16958del deletion Uncertain significance rs565521231 19:46049672-46049676 19:45546414-45546418
27 OPA3 NM_001017989.3(OPA3): c.143-19473C> T single nucleotide variant Uncertain significance rs886054520 19:46052187-46052187 19:45548929-45548929
28 OPA3 NM_001017989.3(OPA3): c.143-20043dup duplication Uncertain significance rs879119658 19:46052746-46052746 19:45549488-45549488
29 OPA3 NM_001017989.3(OPA3): c.143-17370G> A single nucleotide variant Uncertain significance rs181576269 19:46050084-46050084 19:45546826-45546826
30 OPA3 NM_001017989.3(OPA3): c.143-17488G> C single nucleotide variant Uncertain significance rs773109015 19:46050202-46050202 19:45546944-45546944
31 OPA3 NM_001017989.3(OPA3): c.143-17986A> G single nucleotide variant Uncertain significance rs576104602 19:46050700-46050700 19:45547442-45547442
32 OPA3 NM_001017989.3(OPA3): c.143-18185C> T single nucleotide variant Uncertain significance rs886054509 19:46050899-46050899 19:45547641-45547641
33 OPA3 NM_001017989.3(OPA3): c.143-18284G> T single nucleotide variant Uncertain significance rs886054510 19:46050998-46050998 19:45547740-45547740
34 OPA3 NM_001017989.3(OPA3): c.143-18461C> T single nucleotide variant Uncertain significance rs560019290 19:46051175-46051175 19:45547917-45547917
35 OPA3 NM_001017989.3(OPA3): c.143-18701G> A single nucleotide variant Uncertain significance rs549141863 19:46051415-46051415 19:45548157-45548157
36 OPA3 NM_001017989.3(OPA3): c.143-19139_143-19137del deletion Uncertain significance rs886054514 19:46051851-46051853 19:45548593-45548595
37 OPA3 NM_001017989.3(OPA3): c.143-20167C> T single nucleotide variant Uncertain significance rs752997579 19:46052881-46052881 19:45549623-45549623
38 OPA3 NM_001017989.3(OPA3): c.143-20698G> A single nucleotide variant Uncertain significance rs545764728 19:46053412-46053412 19:45550154-45550154
39 OPA3 NM_001017989.3(OPA3): c.143-20780C> T single nucleotide variant Uncertain significance rs770317628 19:46053494-46053494 19:45550236-45550236
40 OPA3 NM_001017989.3(OPA3): c.143-21344C> T single nucleotide variant Uncertain significance rs781539538 19:46054058-46054058 19:45550800-45550800
41 OPA3 NM_001017989.3(OPA3): c.143-21356G> T single nucleotide variant Uncertain significance rs886054526 19:46054070-46054070 19:45550812-45550812
42 OPA3 NM_001017989.3(OPA3): c.143-22967C> G single nucleotide variant Uncertain significance rs557691359 19:46055681-46055681 19:45552423-45552423
43 OPA3 NM_001017989.3(OPA3): c.143-23136G> T single nucleotide variant Uncertain significance rs886054535 19:46055850-46055850 19:45552592-45552592
44 OPA3 NM_001017989.3(OPA3): c.143-21969T> C single nucleotide variant Uncertain significance rs886054529 19:46054683-46054683 19:45551425-45551425
45 OPA3 NM_001017989.3(OPA3): c.143-22195T> G single nucleotide variant Uncertain significance rs769185702 19:46054909-46054909 19:45551651-45551651
46 OPA3 NM_001017989.3(OPA3): c.143-17769A> G single nucleotide variant Uncertain significance rs182293743 19:46050483-46050483 19:45547225-45547225
47 OPA3 NM_001017989.3(OPA3): c.143-17780G> A single nucleotide variant Uncertain significance rs886054507 19:46050494-46050494 19:45547236-45547236
48 OPA3 NM_001017989.3(OPA3): c.143-19594G> T single nucleotide variant Uncertain significance rs886054522 19:46052308-46052308 19:45549050-45549050
49 OPA3 NM_001017989.3(OPA3): c.143-19619C> T single nucleotide variant Uncertain significance rs538388889 19:46052333-46052333 19:45549075-45549075
50 OPA3 NM_001017989.3(OPA3): c.143-20032del deletion Uncertain significance rs879119658 19:46052746-46052746 19:45549488-45549488

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

Expression for 3-Methylglutaconic Aciduria, Type Iii

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

Pathways for 3-Methylglutaconic Aciduria, Type Iii

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

# Super pathways Score Top Affiliating Genes
1 10.59 TIMM8A PMPCA DNAJC19

GO Terms for 3-Methylglutaconic Aciduria, Type Iii

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.55 PMPCA MECR ISCA2 BTD AUH
2 mitochondrial inner membrane GO:0005743 9.5 TMEM70 TIMM8A PMPCA OPA1 MT-ND4 DNAJC19
3 mitochondrion GO:0005739 9.44 TMEM70 TIMM8A SERAC1 PMPCA OPA3 OPA1

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 9.4 MFN2 DNAJC19
2 mitochondrion morphogenesis GO:0070584 9.37 OPA3 OPA1
3 mitochondrial calcium ion transmembrane transport GO:0006851 9.32 PMPCA AFG3L2
4 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.26 WFS1 OPA1
5 visual perception GO:0007601 9.26 WFS1 OPA3 OPA1 DNAJC19
6 calcium import into the mitochondrion GO:0036444 9.16 OPA1 AFG3L2
7 mitochondrial fusion GO:0008053 8.8 OPA1 MFN2 AFG3L2

Sources for 3-Methylglutaconic Aciduria, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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