MGCA3
MCID: 3MT016
MIFTS: 68

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 40 13 39
Optic Atrophy 12 73 36 29 54 6 44 15 70 32
3-Methylglutaconic Aciduria Type 3 12 25 43 58 29 6 15 70
Costeff Syndrome 57 12 25 20 43 58 72
Mga3 57 12 20 43 58 72
Costeff Optic Atrophy Syndrome 12 20 43 58 72
Infantile Optic Atrophy with Chorea and Spastic Paraplegia 12 20 43 58
Optic Atrophy Plus Syndrome 57 20 43 72
Autosomal Recessive Optic Atrophy Plus Syndrome 12 20 58
Autosomal Recessive Optic Atrophy Type 3 12 20 58
3-Methylglutaconic Aciduria Type Iii 12 20 43
Opa3 Defect 25 20 43
Iraqi Jewish Optic Atrophy Plus 20 43
Mga, Type Iii 57 43
Mga Type Iii 20 72
Mgca3 57 72
Optic Atrophy, Infantile, with Chorea and Spastic Paraplegia 57
Optic Atrophy Infantile with Chorea and Spastic Paraplegia 20
3-Alpha Methylglutaconic Aciduria Type Iii 20
Opa3-Related 3-Methylglutaconic Aciduria 40
3-Alpha-Methylglutaconic Aciduria Type 3 72
Optic Atrophy 3, Autosomal Recessive 57
Autosomal Recessive Optic Atrophy 3 43
Optic Atrophy 3 Autosomal Recessive 72
Iraqi-Jewish 'optic Atrophy Plus' 57
Iraqi-Jewish Optic Atrophy Plus 12
3-Methylglutaconic Aciduria 3 72
Atrophy, Optic, Plus Syndrome 39
Optic Atrophies, Hereditary 44
Opa3, Autosomal Recessive 57
Autosomal Recessive Opa3 43
Atrophy of Optic Disc 12
Mga, Type Iii; Mga3 57
Optic Atrophy 3 20
Atrophy, Optic 39

Characteristics:

Orphanet epidemiological data:

58
3-methylglutaconic aciduria type 3
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
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:

31
3-methylglutaconic aciduria, type iii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0110004 DOID:5723
OMIM® 57 258501
OMIM Phenotypic Series 57 PS250950
KEGG 36 H01020
ICD9CM 34 377.1
NCIt 50 C34863
SNOMED-CT 67 155188004
ICD10 32 H47.2 H48.0
MESH via Orphanet 45 C535311
ICD10 via Orphanet 33 E71.1
UMLS via Orphanet 71 C0574084
Orphanet 58 ORPHA67047
MedGen 41 C0574084
UMLS 70 C0029124 C0574084

Summaries for 3-Methylglutaconic Aciduria, Type Iii

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 67047 Definition 3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria. Epidemiology The vast majority of reported cases involved the Iraqi-Jewish population, in which the prevalence of the disorder has been estimated at around 1 in 10 000. Clinical description Onset of the optic atrophy occurs during infancy with a progressive decrease in visual acuity. The choreoathetoid movement disorder manifests later, usually within the first ten years of life. Other clinical features may include spastic paraparesis, mild ataxia and cognitive deficit, dysarthria, and nystagmus. Etiology MGA III is caused by mutations in the OPA3 gene (19q13.2-q13.3). The biological function of the OPA3 gene product remains to be defined but MGA III is hypothesised to be a primary mitochondrial disorder. Diagnostic methods Diagnosis may be suspected up on presentation with early-onset optic atrophy and choreoathetosis (particularly in individuals of Iraqi-Jewish origin) and by detection of an elevation in the levels of 3-methylglutaconic and 3-methylglutaric acid in the urine. Diagnosis can be confirmed by detection of mutations in the OPA3 gene. Differential diagnosis MGA type III can be distinguished from other forms of MGA (types I, II and IV; see these terms) on the basis of the clinical phenotype and, more specifically, from 3-MGA type I by the absence of an elevation in 3-hydroxyisovaleric acid levels and normal 3-methylglutaconyl-CoA hydratase activity in cultured fibroblasts. The differential diagnosis may also include Behr syndrome (see this term) and cerebral palsy. Antenatal diagnosis Prenatal testing is clinically available for affected families through molecular analysis of amniocytes or chorionic villus samples. Genetic counseling MGA III is transmitted as an autosomal recessive trait. Management and treatment Treatment is symptomatic only and should be managed by a multidisciplinary team. Prognosis The long-term prognosis remains unknown: although the disease progresses during childhood, it appears to stabilise during early adulthood.

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 leber hereditary optic neuropathy, modifier of, 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 are Glucose / Energy Metabolism and Mitophagy - animal. The drugs Iron and Metformin have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and pituitary, and related phenotypes are visual impairment and choreoathetosis

Disease Ontology : 12 An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve.

MedlinePlus Genetics : 43 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.

OMIM® : 57 3-Methylglutaconic aciduria type III (MGCA3) 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). For a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950). (258501) (Updated 20-May-2021)

KEGG : 36 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 : 72 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. MGCA3 can be distinguished from MGCA1 by the absence of increase of 3-hydroxyisovaleric acid levels.

Wikipedia : 73 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 Vii
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 639)
# Related Disease Score Top Affiliating Genes
1 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 33.8 OPA1 MFN2 DNM1L AFG3L2
2 leber hereditary optic neuropathy, modifier of 33.7 WFS1 OPA3 OPA1 MFN2 MFN1
3 optic atrophy 2 33.5 OPA3 OPA2 MECR
4 optic atrophy 5 33.5 WFS1 OPA3 OPA1 MFN2 DNM1L AFG3L2
5 optic atrophy 7 with or without auditory neuropathy 33.4 WFS1 OPA3
6 optic atrophy 6 33.3 OPA6 OPA3
7 optic atrophy 11 33.3 MICOS13 MFN2
8 optic atrophy 8 33.2 WFS1 OPA8 OPA3
9 optic atrophy 4 33.2 WFS1 OPA4 OPA3 OPA1
10 optic atrophy 9 33.2 OPA3 AFG3L2
11 neuropathy, hereditary motor and sensory, type via, with optic atrophy 33.0 OPA3 MFN2
12 behr syndrome 32.9 OPA3 OPA1 MFN2
13 optic atrophy 1 32.7 OPA6 OPA1 MFN2 MFN1 FIS1 DNM1L
14 optic nerve disease 32.1 WFS1 OPA3 OPA1 MFN2 MFN1 FIS1
15 encephalopathy due to defective mitochondrial and peroxisomal fission 1 31.8 FIS1 DNM1L
16 peripheral nervous system disease 31.7 WFS1 OPA3 OPA1 MFN2 MFN1 FIS1
17 scotoma 31.5 OPA3 OPA1 DNM1L
18 charcot-marie-tooth disease 31.2 OPA1 MFN2 MFN1 FIS1 DNM1L
19 chronic progressive external ophthalmoplegia 31.0 OPA3 MFN2 AFG3L2
20 kearns-sayre syndrome 30.9 OPA3 MFN2 AFG3L2
21 optic atrophy 3, autosomal dominant 30.9 OPA3 MFN2 MFN1
22 spastic ataxia 30.8 TUBB6 DNM1L AFG3L2
23 spastic paraplegia 7, autosomal recessive 30.8 OPA1 AFG3L2
24 toxic optic neuropathy 30.5 OPA3 MFN2
25 spastic ataxia 5, autosomal recessive 30.4 TUBB6 AFG3L2
26 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 11.8
27 bosch-boonstra-schaaf optic atrophy syndrome 11.8
28 wolfram syndrome 11.7
29 spastic paraplegia, optic atrophy, and neuropathy 11.7
30 peho syndrome 11.7
31 gapo syndrome 11.7
32 charcot-marie-tooth disease, x-linked recessive, 5 11.6
33 optic atrophy 10 with or without ataxia, mental retardation, and seizures 11.6
34 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 11.6
35 optic atrophy 12 11.6
36 wolfram syndrome 1 11.6
37 arts syndrome 11.6
38 auditory neuropathy and optic atrophy 11.6
39 neuropathy, hereditary motor and sensory, type vic, with optic atrophy 11.6
40 leber optic atrophy and dystonia 11.6
41 encephalopathy, progressive, with amyotrophy and optic atrophy 11.6
42 optic atrophy 13 with retinal and foveal abnormalities 11.6
43 mohr-tranebjaerg syndrome 11.6
44 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy 11.5
45 spastic paraplegia 79, autosomal recessive 11.5
46 pontocerebellar hypoplasia, type 3 11.5
47 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline 11.5
48 wolfram-like syndrome, autosomal dominant 11.5
49 neuropathy, hereditary motor and sensory, type vib, with optic atrophy 11.5
50 galloway-mowat syndrome 1 11.5

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:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
2 choreoathetosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001266
3 3-methylglutaconic aciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003535
4 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
5 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
6 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
7 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
8 spastic paraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0002313
9 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
10 optic atrophy 31 very rare (1%) HP:0000648
11 3-methylglutaric aciduria 31 very rare (1%) HP:0003344
12 spasticity 31 HP:0001257
13 hyperreflexia 31 HP:0001347
14 chorea 31 HP:0002072
15 cognitive impairment 31 HP:0100543
16 reduced visual acuity 31 HP:0007663
17 abnormality of extrapyramidal motor function 31 HP:0002071
18 babinski sign 31 HP:0003487

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
ataxia
dysarthria
extrapyramidal signs
more
Laboratory Abnormalities:
increased urinary 3-methylglutaconic acid

Head And Neck Eyes:
optic atrophy
decreased visual acuity

Clinical features from OMIM®:

258501 (Updated 20-May-2021)

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


ataxia; abnormality of extrapyramidal motor function; muscle spasticity

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

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.5 DNM1L
2 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.5 PMPCA
3 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.5 DNM1L PMPCA
4 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.5 PMPCA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.5 DNM1L
6 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.5 DNM1L
7 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.5 AFG3L2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-165 9.5 AFG3L2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.5 AFG3L2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.5 PMPCA
11 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.5 PMPCA
12 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.5 DNM1L
13 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.5 AFG3L2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-84 9.5 AFG3L2

MGI Mouse Phenotypes related to 3-Methylglutaconic Aciduria, Type Iii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 AFG3L2 BTD DNM1L FIS1 MFN1 MFN2
2 muscle MP:0005369 9.17 AFG3L2 BTD DNM1L FIS1 MFN2 OPA1

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 56)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 2, Phase 3 7439-89-6 23925 29936
2
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
3
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
4
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
5
Curcumin Approved, Experimental, Investigational Phase 3 458-37-7 969516
6
Bezafibrate Approved, Investigational Phase 2, Phase 3 41859-67-0 39042
7 Respiratory System Agents Phase 2, Phase 3
8 Antidotes Phase 2, Phase 3
9
protease inhibitors Phase 2, Phase 3
10 Sitagliptin Phosphate Phase 2, Phase 3
11 Chelating Agents Phase 2, Phase 3
12 Hormones Phase 2, Phase 3
13 Hypoglycemic Agents Phase 2, Phase 3
14 Dipeptidyl-Peptidase IV Inhibitors Phase 2, Phase 3
15 Hormone Antagonists Phase 2, Phase 3
16 Iron Chelating Agents Phase 2, Phase 3
17 Expectorants Phase 2, Phase 3
18 Anti-Infective Agents Phase 2, Phase 3
19 Incretins Phase 2, Phase 3
20 Antiviral Agents Phase 2, Phase 3
21 N-monoacetylcystine Phase 2, Phase 3
22 HIV Protease Inhibitors Phase 2, Phase 3
23 Antirheumatic Agents Phase 3
24 Anti-Inflammatory Agents Phase 3
25 Analgesics, Non-Narcotic Phase 3
26 Anti-Inflammatory Agents, Non-Steroidal Phase 3
27 Analgesics Phase 3
28 Anti-Infective Agents, Local Phase 3
29 Hypolipidemic Agents Phase 2, Phase 3
30 Lipid Regulating Agents Phase 2, Phase 3
31 Antimetabolites Phase 2, Phase 3
32 Pharmaceutical Solutions Phase 3
33 Anesthetics Phase 3
34
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
35
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
36
Dantrolene Approved, Investigational Phase 1, Phase 2 7261-97-4 2952 6914273
37 Immunosuppressive Agents Phase 2
38 Immunologic Factors Phase 2
39 Cyclosporins Phase 2
40 Antifungal Agents Phase 2
41 Calcineurin Inhibitors Phase 2
42 Dermatologic Agents Phase 2
43 Ophthalmic Solutions Phase 2
44 Hematinics Phase 1, Phase 2
45 Epoetin alfa Phase 1, Phase 2 113427-24-0
46 Neuroprotective Agents Phase 1
47
Triamcinolone Approved, Vet_approved 124-94-7 31307
48
Tocopherol Approved, Investigational 1406-66-2
49
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
50 Tocotrienol Investigational 6829-55-6

Interventional clinical trials:

(show all 41)
# 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 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 Completed NCT02652767 Phase 3
6 Study of Efficacy of Befizal® 200 mg for the Treatment of Leber Hereditary Optic Neuropathy Recruiting NCT04561466 Phase 2, Phase 3 Béfizal
7 Long-term Follow-up of ND4 LHON Subjects Treated With GS010 Ocular Gene Therapy in the RESCUE or REVERSE Phase III Clinical Trials Active, not recruiting NCT03406104 Phase 3
8 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
9 A Single Intravitreal Injection of rAAV2-ND4 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 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) Completed NCT02693119 Phase 2 elamipretide (MTP-131) 1% topical ophthalmic solution;Vehicle topical ophthalmic solution
15 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 Completed NCT02064569 Phase 1, Phase 2
16 Systemic Erythropoietin Injection in Patients Having Optic Atrophy Recruiting NCT04680143 Phase 1, Phase 2 Systemic erythropoietin injection
17 A Phase 1b/2a Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome Active, not recruiting NCT02829268 Phase 1, Phase 2 dantrolene sodium
18 Near-infrared Light-emitting Diode (NIR-LED) Therapy for Leber's Hereditary Optic Neuropathy (LHON) Terminated NCT01389817 Phase 1, Phase 2
19 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
20 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 Active, not 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)
21 Cross Sectional Study of Autosomal Dominant Opticus Atrophy Unknown status NCT01522638
22 Expression of Optic Atrophy Type 1 (OPA1) Protein in Lung Adenocarcinoma Unknown status NCT01249053
23 Transcorneal Electrical Stimulation Therapy for Retinal Disease - A Randomized, Single-blind Pilot Study Completed NCT00804102
24 Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON) Completed NCT02796274
25 A Single Visit, Observational, Follow-up Study of Patients With Leber's Hereditary Optic Neuropathy Following Participation in SNT-II-003 Trial Completed NCT01421381
26 Safety and Efficacy Study of a Single Intravitreal Injection of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy Completed NCT01267422 rAAV2-ND4
27 Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey Completed NCT01892943
28 Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients Completed NCT03295071
29 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
30 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
31 A Natural History Study of Neurodegeneration and Optic Atrophy Caused by SLC25A46 Mutations in Pediatric and Adult Patients Recruiting NCT04594590
32 A Natural History Study of Neurodegeneration and Optic Atrophy Caused by Ferredoxin Reductase Mutations in Pediatric and Adult Patients Recruiting NCT04580979
33 New Non-invasive Modalities for Assessing Retinal Structure and Function:Preliminary Investigation Recruiting NCT03475173
34 Wolfram Syndrome International Registry and Clinical Study Recruiting NCT02841553
35 A Prospective, Multicenter, Blinded Reading, Self Controlled, Superiority Priority Clinical Trial of Assisted Fundus Image Diagnosis Software for the Diagnosis of Multiple Eye Fundus Diseases Recruiting NCT04723160
36 Efficacy Study of Gene Therapy for The Treatment of Acute LHON Onset Within Three Months Active, not recruiting NCT03428178 rAAV2-ND4
37 A Non-interventional Study of Clinical Experience in Patients Prescribed Raxone® for the Treatment of Leber's Hereditary Optic Neuropathy (LHON) Active, not recruiting NCT02771379 Idebenone
38 EAP Single Patient: Safety of Bilateral Intravitreal Injection of GS010 in a Single Subject Affected With G11778A ND4 Leber Hereditary Optic Neuropathy Available NCT03672968
39 Expanded Access Program for Idebenone in Patients With Leber's Hereditary Optic Neuropathy Who Completed the LEROS Study Available NCT04381091 Idebenone 150 MG Oral Tablet
40 Phenotypes, Biomarkers and Pathophysiology in Spastic Ataxias Not yet recruiting NCT04297891
41 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:

40
Eye, Brain, Pituitary, Bone Marrow, Bone, Skeletal Muscle, Retina

Publications for 3-Methylglutaconic Aciduria, Type Iii

Articles related to 3-Methylglutaconic Aciduria, Type Iii:

(show top 50) (show all 4413)
# 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. 54 61 57 6 25
11668429 2001
2
Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep. 25 6 57 61
26190011 2015
3
Costeff syndrome: clinical features and natural history. 25 57 6 61
25201222 2014
4
Costeff optic atrophy syndrome: new clinical case and novel molecular findings. 6 25 57 61
18985435 2008
5
3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. 6 57 25 61
12126933 2002
6
A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping. 57 61 6
23700088 2013
7
3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome. 57 25 61
7510656 1994
8
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. 54 61 6
20350831 2010
9
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. 61 54 6
15902555 2005
10
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. 57 61 54
9097959 1997
11
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. 6 61
32219868 2020
12
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. 61 6
27817865 2016
13
Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy. 61 6
25159689 2015
14
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network. 6 61
24136862 2013
15
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. 6 61
15342707 2004
16
Behr's syndrome and 3-methylglutaconic aciduria. 57 61
1384336 1992
17
3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4'). 61 57
1382150 1992
18
A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. 57 61
2494568 1989
19
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
20
Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy. 25 61
31928268 2019
21
Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation. 61 25
28050599 2017
22
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia. 6
27629047 2016
23
The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome. 25 61
25657044 2015
24
Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria. 61 25
24749080 2014
25
Musculoskeletal deformities in Behr syndrome. 25 61
11433166 2001
26
Behr syndrome. 57
7538304 1995
27
HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients. 25
30114719 2018
28
Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review. 25
29976148 2018
29
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
30
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
31
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. 25
23355087 2013
32
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. 25
23296368 2013
33
Phenotypic spectrum of MFN2 mutations in the Spanish population. 61 54
19889647 2010
34
OPA1-associated disorders: phenotypes and pathophysiology. 54 61
19389487 2009
35
OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background. 61 54
19619285 2009
36
Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect. 61 54
19325939 2009
37
Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. 54 61
18946002 2008
38
Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findings. 54 61
18996695 2008
39
Sporadic bilateral optic neuropathy in children: the role of mitochondrial abnormalities. 61 54
18676632 2008
40
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function. 61 54
18678599 2008
41
Association study of the effect of WFS1 polymorphisms on risk of type 2 diabetes in Japanese population. 54 61
19258739 2008
42
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1. 54 61
18688868 2008
43
Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene. 54 61
18544103 2008
44
Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program. 61 54
18060660 2008
45
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. 61 54
18158317 2008
46
A missense mutation in the murine Opa3 gene models human Costeff syndrome. 61 54
18222992 2008
47
Sodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress. 61 54
17947299 2008
48
The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment. 54 61
18193945 2008
49
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. 54 61
17846994 2007
50
Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome. 54 61
17568405 2007

Variations for 3-Methylglutaconic Aciduria, Type Iii

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

6 (show top 50) (show all 314)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OPA3 NM_025136.4(OPA3):c.322_339del (p.Gln108_Glu113del) Deletion Pathogenic 4242 rs80356526 GRCh37: 19:46056973-46056990
GRCh38: 19:45553715-45553732
2 OPA3 NC_000019.10:g.(?_45584613)_(45584774_?)del Deletion Pathogenic 831267 GRCh37: 19:46087871-46088032
GRCh38:
3 OPA3 NM_025136.4(OPA3):c.32T>A (p.Leu11Gln) SNV Pathogenic 918005 GRCh37: 19:46087991-46087991
GRCh38: 19:45584733-45584733
4 OPA3 NM_025136.4(OPA3):c.143-2_143-1delinsCC Indel Pathogenic 952107 GRCh37: 19:46057170-46057171
GRCh38: 19:45553912-45553913
5 OPA3 NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) SNV Pathogenic 4241 rs80356525 GRCh37: 19:46056999-46056999
GRCh38: 19:45553741-45553741
6 AFG3L2 NM_006796.3(AFG3L2):c.1385C>T SNV Pathogenic 546814 rs912546325 GRCh37: 18:12351346-12351346
GRCh38: 18:12351347-12351347
7 AFG3L2 NM_006796.3(AFG3L2):c.1394G>A (p.Arg465Lys) SNV Pathogenic 973104 GRCh37: 18:12351337-12351337
GRCh38: 18:12351338-12351338
8 AFG3L2 NM_006796.3(AFG3L2):c.1220A>G (p.Asp407Gly) SNV Pathogenic 973105 GRCh37: 18:12353102-12353102
GRCh38: 18:12353103-12353103
9 AFG3L2 NM_006796.3(AFG3L2):c.1541C>T (p.Pro514Leu) SNV Pathogenic 973106 GRCh37: 18:12351095-12351095
GRCh38: 18:12351096-12351096
10 AFG3L2 NM_006796.3(AFG3L2):c.1385C>T SNV Pathogenic 973107 rs912546325 GRCh37: 18:12351346-12351346
GRCh38: 18:12351347-12351347
11 AFG3L2 NM_006796.3(AFG3L2):c.1289C>T (p.Thr430Ile) SNV Pathogenic 973108 GRCh37: 18:12353033-12353033
GRCh38: 18:12353034-12353034
12 AFG3L2 NM_006796.3(AFG3L2):c.1036C>T (p.Leu346Phe) SNV Pathogenic 973109 GRCh37: 18:12356821-12356821
GRCh38: 18:12356822-12356822
13 AFG3L2 NM_006796.3(AFG3L2):c.1130T>C (p.Phe377Ser) SNV Pathogenic 973110 GRCh37: 18:12356727-12356727
GRCh38: 18:12356728-12356728
14 AFG3L2 NM_006796.3(AFG3L2):c.1064C>T SNV Pathogenic 385335 rs1057522195 GRCh37: 18:12356793-12356793
GRCh38: 18:12356794-12356794
15 AFG3L2 NM_006796.3(AFG3L2):c.1901_1902del (p.Val633_Ser634insTer) Microsatellite Pathogenic 973111 GRCh37: 18:12340278-12340279
GRCh38: 18:12340279-12340280
16 AFG3L2 , TUBB6 NM_006796.3(AFG3L2):c.2375dup (p.Gly792_Glu793insTer) Duplication Pathogenic 973112 GRCh37: 18:12329582-12329583
GRCh38: 18:12329583-12329584
17 OPA3 NM_025136.4(OPA3):c.143-1G>C SNV Pathogenic 4239 rs80356523 GRCh37: 19:46057170-46057170
GRCh38: 19:45553912-45553912
18 AFG3L2 NM_006796.3(AFG3L2):c.1402C>T (p.Arg468Cys) SNV Pathogenic 565275 rs1020764190 GRCh37: 18:12351329-12351329
GRCh38: 18:12351330-12351330
19 PMPCA NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr) SNV Pathogenic 221552 rs753611141 GRCh37: 9:139313299-139313299
GRCh38: 9:136418847-136418847
20 PMPCA NM_015160.3(PMPCA):c.1066G>A (p.Gly356Ser) SNV Pathogenic 221553 rs768643552 GRCh37: 9:139313082-139313082
GRCh38: 9:136418630-136418630
21 overlap with 8 genes GRCh37/hg19 1q21.1-21.2(chr1:146618988-147824207) copy number gain Pathogenic 523244 GRCh37: 1:146618988-147824207
GRCh38:
22 OPA3 NM_025136.4(OPA3):c.143-1G>C SNV Pathogenic 4239 rs80356523 GRCh37: 19:46057170-46057170
GRCh38: 19:45553912-45553912
23 OAT NM_000274.3(OAT):c.875A>G (p.Lys292Arg) SNV Likely pathogenic 374146 rs1057518927 GRCh37: 10:126091521-126091521
GRCh38: 10:124402952-124402952
24 MECR NM_016011.5(MECR):c.695G>A (p.Gly232Glu) SNV Likely pathogenic 374878 rs762913101 GRCh37: 1:29528516-29528516
GRCh38: 1:29202004-29202004
25 MECR NM_016011.5(MECR):c.855T>G (p.Tyr285Ter) SNV Likely pathogenic 374879 rs1057519286 GRCh37: 1:29522746-29522746
GRCh38: 1:29196234-29196234
26 MECR NM_016011.5(MECR):c.830+2dup Duplication Likely pathogenic 449055 rs756421370 GRCh37: 1:29527026-29527026
GRCh38: 1:29200513-29200514
27 MECR NM_016011.5(MECR):c.854A>G (p.Tyr285Cys) SNV Likely pathogenic 374881 rs759218713 GRCh37: 1:29522747-29522747
GRCh38: 1:29196235-29196235
28 MECR NM_016011.4(MECR):c.772C>T (p.Arg258Trp) SNV Likely pathogenic 374882 rs145192716 GRCh37: 1:29527086-29527086
GRCh38: 1:29200574-29200574
29 MECR NM_016011.5(MECR):c.247_250del (p.Asn83fs) Deletion Likely pathogenic 374883 rs1057519287 GRCh37: 1:29543124-29543127
GRCh38: 1:29216612-29216615
30 overlap with 4 genes NC_000002.11:g.15744252_17675820del Deletion Likely pathogenic 812922 GRCh37: 2:15744252-17675820
GRCh38:
31 ISCA2 NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) SNV Likely pathogenic 183353 rs730882246 GRCh37: 14:74961032-74961032
GRCh38: 14:74494329-74494329
32 OPA3 NC_000019.10:g.(?_45553504)_(45553921_?)del Deletion Likely pathogenic 830708 GRCh37: 19:46056762-46057179
GRCh38:
33 OPA3 NM_025136.4(OPA3):c.52C>T (p.Gln18Ter) SNV Likely pathogenic 620409 rs1568413644 GRCh37: 19:46087971-46087971
GRCh38: 19:45584713-45584713
34 OPA3 NM_025136.4(OPA3):c.254G>A (p.Gly85Asp) SNV Likely pathogenic 807645 rs1599964721 GRCh37: 19:46057058-46057058
GRCh38: 19:45553800-45553800
35 OPA3 NM_025136.4(OPA3):c.61A>T (p.Lys21Ter) SNV Likely pathogenic 555674 rs1555736814 GRCh37: 19:46087962-46087962
GRCh38: 19:45584704-45584704
36 OPA3 NM_025136.4(OPA3):c.100dup (p.Ser34fs) Duplication Likely pathogenic 557484 rs1555736803 GRCh37: 19:46087922-46087923
GRCh38: 19:45584664-45584665
37 OPA3 NM_025136.4(OPA3):c.415C>T (p.Gln139Ter) SNV Likely pathogenic 21710 rs28937899 GRCh37: 19:46056897-46056897
GRCh38: 19:45553639-45553639
38 OPA3 NM_025136.4(OPA3):c.142+1G>A SNV Likely pathogenic 552448 rs1555736793 GRCh37: 19:46087880-46087880
GRCh38: 19:45584622-45584622
39 OPA3 NM_025136.4(OPA3):c.539A>G (p.Ter180Trp) SNV Likely pathogenic 370448 rs1057516497 GRCh37: 19:46056773-46056773
GRCh38: 19:45553515-45553515
40 OPA3 NM_025136.4(OPA3):c.217dup (p.Glu73fs) Duplication Likely pathogenic 554806 rs1555732963 GRCh37: 19:46057094-46057095
GRCh38: 19:45553836-45553837
41 PIGQ NM_004204.4(PIGQ):c.619C>T (p.Arg207Ter) SNV Likely pathogenic 183339 rs730882240 GRCh37: 16:624693-624693
GRCh38: 16:574693-574693
42 OPA3 NM_025136.4(OPA3):c.*4696_*4699ATAA[8] Microsatellite Conflicting interpretations of pathogenicity 329598 rs58537694 GRCh37: 19:46052048-46052049
GRCh38: 19:45548790-45548791
43 OPA3 NM_025136.4(OPA3):c.*80G>T SNV Uncertain significance 329683 rs540023428 GRCh37: 19:46056692-46056692
GRCh38: 19:45553434-45553434
44 OPA3 NM_025136.4(OPA3):c.*302C>T SNV Uncertain significance 329680 rs886054540 GRCh37: 19:46056470-46056470
GRCh38: 19:45553212-45553212
45 OPA3 NM_025136.4(OPA3):c.444C>T (p.Ala148=) SNV Uncertain significance 329685 rs759536853 GRCh37: 19:46056868-46056868
GRCh38: 19:45553610-45553610
46 OPA3 NM_025136.4(OPA3):c.*3117C>T SNV Uncertain significance 329630 rs569595277 GRCh37: 19:46053655-46053655
GRCh38: 19:45550397-45550397
47 OPA3 NM_025136.4(OPA3):c.*1642A>G SNV Uncertain significance 329653 rs144894771 GRCh37: 19:46055130-46055130
GRCh38: 19:45551872-45551872
48 OPA3 NM_025136.4(OPA3):c.*4919_*4921del Deletion Uncertain significance 329592 rs886054514 GRCh37: 19:46051851-46051853
GRCh38: 19:45548593-45548595
49 OPA3 NM_025136.3(OPA3):c.-96A>G SNV Uncertain significance 329689 rs566870092 GRCh37: 19:46088118-46088118
GRCh38: 19:45584860-45584860
50 OPA3 NM_025136.4(OPA3):c.*1076A>G SNV Uncertain significance 329663 rs886054533 GRCh37: 19:46055696-46055696
GRCh38: 19:45552438-45552438

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

7
# CNVD ID Chromosome 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 11.75 WFS1 OPA1 MFN2 MFN1
2 10.63 MFN2 MFN1 FIS1

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 9.65 PMPCA OAT MECR ISCA2 BTD
2 mitochondrion GO:0005739 9.4 PMPCA OPA3 OPA1 OAT MICOS13 MFN2
3 mitochondrial outer membrane GO:0005741 9.35 OPA1 MFN2 MFN1 FIS1 DNM1L
4 integral component of mitochondrial outer membrane GO:0031307 9.32 MFN1 FIS1
5 intrinsic component of mitochondrial outer membrane GO:0031306 9.16 MFN2 MFN1

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 9.69 OPA1 DNM1L AFG3L2
2 visual perception GO:0007601 9.62 WFS1 OPA3 OPA1 OAT
3 cristae formation GO:0042407 9.61 MICOS13 AFG3L2
4 protein targeting to mitochondrion GO:0006626 9.61 MFN2 FIS1
5 mitochondrial calcium ion transmembrane transport GO:0006851 9.6 PMPCA AFG3L2
6 release of cytochrome c from mitochondria GO:0001836 9.59 FIS1 DNM1L
7 positive regulation of dendritic spine morphogenesis GO:0061003 9.58 OPA1 DNM1L
8 protein complex oligomerization GO:0051259 9.58 OPA1 DNM1L
9 regulation of mitochondrion organization GO:0010821 9.57 FIS1 DNM1L
10 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.56 WFS1 OPA1
11 inner mitochondrial membrane organization GO:0007007 9.55 OPA1 MICOS13
12 positive regulation of mitochondrial fission GO:0090141 9.54 FIS1 DNM1L
13 GTP metabolic process GO:0046039 9.52 OPA1 MFN1
14 calcium import into the mitochondrion GO:0036444 9.49 OPA1 AFG3L2
15 peroxisome fission GO:0016559 9.48 FIS1 DNM1L
16 mitochondrion localization GO:0051646 9.46 MFN2 MFN1
17 intracellular distribution of mitochondria GO:0048312 9.43 OPA1 DNM1L
18 mitochondrial fragmentation involved in apoptotic process GO:0043653 9.4 FIS1 DNM1L
19 dynamin family protein polymerization involved in mitochondrial fission GO:0003374 9.37 OPA1 DNM1L
20 mitochondrion morphogenesis GO:0070584 9.33 OPA1 FIS1 DNM1L
21 organelle fission GO:0048285 9.26 OPA1 DNM1L
22 mitochondrial fission GO:0000266 9.13 OPA1 FIS1 DNM1L
23 mitochondrial fusion GO:0008053 9.02 OPA1 MFN2 MFN1 FIS1 AFG3L2

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

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.35 TUBB6 OPA1 MFN2 MFN1 DNM1L
2 GTPase activity GO:0003924 9.02 TUBB6 OPA1 MFN2 MFN1 DNM1L

Sources for 3-Methylglutaconic Aciduria, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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