MGCA3
MCID: 3MT016
MIFTS: 67

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 56 40 13 39
Optic Atrophy 12 74 36 29 54 6 43 15 71 32
3-Methylglutaconic Aciduria Type 3 12 24 25 58 29 6 15 71
Costeff Syndrome 56 12 24 52 25 58 73
Mga3 56 12 52 25 58 73
Costeff Optic Atrophy Syndrome 12 52 25 58 73
Infantile Optic Atrophy with Chorea and Spastic Paraplegia 12 52 25 58
Optic Atrophy Plus Syndrome 56 52 25 73
Autosomal Recessive Optic Atrophy Plus Syndrome 12 52 58
Autosomal Recessive Optic Atrophy Type 3 12 52 58
3-Methylglutaconic Aciduria Type Iii 12 52 25
Opa3 Defect 24 52 25
Iraqi Jewish Optic Atrophy Plus 52 25
Mga, Type Iii 56 25
Mga Type Iii 52 73
Mgca3 56 73
Optic Atrophy, Infantile, with Chorea and Spastic Paraplegia 56
Optic Atrophy Infantile with Chorea and Spastic Paraplegia 52
3-Alpha Methylglutaconic Aciduria Type Iii 52
Opa3-Related 3-Methylglutaconic Aciduria 40
3-Alpha-Methylglutaconic Aciduria Type 3 73
Optic Atrophy 3, Autosomal Recessive 56
Autosomal Recessive Optic Atrophy 3 25
Optic Atrophy 3 Autosomal Recessive 73
Iraqi-Jewish 'optic Atrophy Plus' 56
Iraqi-Jewish Optic Atrophy Plus 12
3-Methylglutaconic Aciduria 3 73
Atrophy, Optic, Plus Syndrome 39
Optic Atrophies, Hereditary 43
Opa3, Autosomal Recessive 56
Autosomal Recessive Opa3 25
Atrophy of Optic Disc 12
Mga, Type Iii; Mga3 56
Optic Atrophy 3 52
Atrophy, Optic 39

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 56 258501
OMIM Phenotypic Series 56 PS250950
KEGG 36 H01020
ICD9CM 34 377.1
NCIt 49 C34863
SNOMED-CT 67 76976005
ICD10 32 H47.2 H48.0
MESH via Orphanet 44 C535311
ICD10 via Orphanet 33 E71.1
UMLS via Orphanet 72 C0574084
Orphanet 58 ORPHA67047
MedGen 41 C0574084
UMLS 71 C0029124 C0574084

Summaries for 3-Methylglutaconic Aciduria, Type Iii

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : 3-Methylglutaconic Aciduria, Type Iii, also known as optic atrophy, is related to leber optic atrophy and optic atrophy 2, 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 Acetylcysteine and Iron have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and testes, 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.

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.

OMIM : 56 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)

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 : 73 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 : 74 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 618)
# Related Disease Score Top Affiliating Genes
1 leber optic atrophy 35.7 WFS1 OPA3 OPA1 MT-ND4 MFN2 MFN1
2 optic atrophy 2 35.5 OPA3 OPA2 MECR
3 optic atrophy 5 35.5 WFS1 OPA3 OPA1 MT-ND4 DNM1L AFG3L2
4 optic atrophy 6 35.3 OPA6 OPA3 MT-ND4
5 optic atrophy 7 with or without auditory neuropathy 35.3 WFS1 OPA3
6 optic atrophy 4 35.3 WFS1 OPA4 OPA3 OPA1 MT-ND4
7 optic atrophy 8 35.3 WFS1 OPA8 OPA3 MT-ND4
8 optic atrophy 10 with or without ataxia, mental retardation, and seizures 35.1 OPA3 AFG3L2
9 neuropathy, hereditary motor and sensory, type via, with optic atrophy 35.0 OPA3 MFN2
10 optic atrophy 9 35.0 OPA3 AFG3L2
11 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 34.9 OPA1 MFN2 DNM1L AFG3L2
12 behr syndrome 33.6 OPA3 OPA1 MFN2 AFG3L2
13 optic atrophy 1 33.4 OPA6 OPA1 MFN2 MFN1 MFF FIS1
14 combined oxidative phosphorylation deficiency 7 33.1 MT-ND4 MFN2
15 encephalopathy due to defective mitochondrial and peroxisomal fission 1 32.8 MFF FIS1 DNM1L
16 optic nerve disease 32.6 WFS1 OPA3 OPA1 MT-ND4 MFN2 MFN1
17 neuropathy 32.2 OPA1 MT-ND4 MFN2 MFF
18 peripheral nervous system disease 32.1 WFS1 OPA3 OPA1 MT-ND4 MFN2 MFN1
19 optic atrophy 3, autosomal dominant 31.9 OPA3 MFN2 MFN1
20 scotoma 31.8 OPA3 OPA1 MT-ND4 DNM1L
21 charcot-marie-tooth disease 31.6 OPA1 MFN2 MFN1 MFF FIS1 DNM1L
22 kearns-sayre syndrome 31.6 OPA3 MT-ND4 MFN2 AFG3L2
23 ptosis 31.5 PMPCA OPA1 MT-ND4 AFG3L2
24 mitochondrial metabolism disease 31.4 OPA3 OPA1 MT-ND4 MFN2 ISCA2
25 tritanopia 31.0 OPA3 MT-ND4
26 dystonia 31.0 MT-ND4 MECR DNM1L BTD AFG3L2
27 spastic paraplegia 7, autosomal recessive 31.0 OPA1 AFG3L2
28 toxic optic neuropathy 30.6 OPA3 MT-ND4
29 mitochondrial encephalomyopathy 30.5 OPA1 MT-ND4 MFF
30 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 12.8
31 spastic paraplegia, optic atrophy, and neuropathy 12.8
32 bosch-boonstra-schaaf optic atrophy syndrome 12.8
33 optic atrophy 11 12.7
34 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 12.7
35 auditory neuropathy and optic atrophy 12.6
36 leber optic atrophy and dystonia 12.6
37 encephalopathy, progressive, with amyotrophy and optic atrophy 12.6
38 neuropathy, hereditary motor and sensory, type vic, with optic atrophy 12.6
39 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy 12.6
40 neuropathy, hereditary motor and sensory, type vib, with optic atrophy 12.6
41 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation 12.5
42 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 12.5
43 autosomal recessive isolated optic atrophy 12.5
44 mental retardation with optic atrophy, deafness, and seizures 12.5
45 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline 12.5
46 primary optic atrophy 12.5
47 partial optic atrophy 12.4
48 optic atrophy--spastic paraplegia syndrome 12.4
49 metaphyseal dysplasia, anetoderma, and optic atrophy 12.4
50 spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder 12.4

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 17)
# 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 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
6 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
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 HP:0000648
11 cognitive impairment 31 HP:0100543
12 spasticity 31 HP:0001257
13 hyperreflexia 31 HP:0001347
14 reduced visual acuity 31 HP:0007663
15 abnormality of extrapyramidal motor function 31 HP:0002071
16 chorea 31 HP:0002072
17 babinski sign 31 HP:0003487

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
optic atrophy
decreased visual acuity

Laboratory Abnormalities:
increased urinary 3-methylglutaconic acid

Neurologic Central Nervous System:
spasticity
ataxia
hyperreflexia
dysarthria
extrapyramidal signs
more

Clinical features from OMIM:

258501

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

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 83)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
2
Iron Approved, Experimental Phase 2, Phase 3 15438-31-0, 7439-89-6 27284 23925
3
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
4
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
5
Curcumin Approved, Experimental, Investigational Phase 3 458-37-7 969516
6
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
7 Hormones Phase 2, Phase 3
8 Hypoglycemic Agents Phase 2, Phase 3
9 Hormone Antagonists Phase 2, Phase 3
10 Incretins Phase 2, Phase 3
11 Respiratory System Agents Phase 2, Phase 3
12 Antidotes Phase 2, Phase 3
13 Dipeptidyl-Peptidase IV Inhibitors Phase 2, Phase 3
14 Chelating Agents Phase 2, Phase 3
15
protease inhibitors Phase 2, Phase 3
16 Iron Chelating Agents Phase 2, Phase 3
17 HIV Protease Inhibitors Phase 2, Phase 3
18 Sitagliptin Phosphate Phase 2, Phase 3
19 Expectorants Phase 2, Phase 3
20 N-monoacetylcystine Phase 2, Phase 3
21 Analgesics Phase 3
22 Analgesics, Non-Narcotic Phase 3
23 Anti-Inflammatory Agents Phase 3
24 Anti-Inflammatory Agents, Non-Steroidal Phase 3
25 Antirheumatic Agents Phase 3
26 Antihypertensive Agents Phase 3
27 Endothelin Receptor Antagonists Phase 3
28 Anesthetics Phase 3
29 Pharmaceutical Solutions Phase 3
30 Hematinics Phase 3
31 Epoetin alfa Phase 3 113427-24-0
32
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
33
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
34
Coal tar Approved Phase 1, Phase 2 8007-45-2
35
Dantrolene Approved, Investigational Phase 1, Phase 2 7261-97-4 6914273 2952
36
Etravirine Approved Phase 2 269055-15-4 193962
37 Immunologic Factors Phase 2
38 Immunosuppressive Agents Phase 2
39 Dermatologic Agents Phase 2
40 Antifungal Agents Phase 2
41 Cyclosporins Phase 2
42 Calcineurin Inhibitors Phase 2
43 Ophthalmic Solutions Phase 2
44 Anti-Infective Agents Phase 2
45 Antiviral Agents Phase 2
46 Reverse Transcriptase Inhibitors Phase 2
47 Anti-Retroviral Agents Phase 2
48 Neuroprotective Agents Phase 1
49
Exenatide Approved, Investigational 141758-74-9 15991534
50
Triamcinolone Approved, Vet_approved 124-94-7 31307

Interventional clinical trials:

(show top 50) (show all 56)
# 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 Effect of Bosentan in Patients With Non Arteritic Ischemic Optic Neuropathy Recruiting NCT02377271 Phase 3 bosentan;placebo
7 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
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 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 Autologous Adult Human Mesenchymal Stem Cells: a Neuroprotective Therapy for Multiple Sclerosis Completed NCT00395200 Phase 1, Phase 2
16 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
17 A Phase 1b/2a Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome Recruiting NCT02829268 Phase 1, Phase 2 dantrolene sodium
18 The Nutritional Supplement Phosphatidylserine in Patients With Familial Recruiting NCT02276716 Phase 2 Phosphatidylserine
19 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
20 A Phase 2 Clinical Trial to Test the Safety and Efficacy of Etravirine in Friedreich Ataxia Patients Not yet recruiting NCT04273165 Phase 2 Etravirine Tablets
21 Near-infrared Light-emitting Diode (NIR-LED) Therapy for Leber's Hereditary Optic Neuropathy (LHON) Terminated NCT01389817 Phase 1, Phase 2
22 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
23 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)
24 Cross Sectional Study of Autosomal Dominant Opticus 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 Exenatide
27 Stenting of Venous Sinus Stenosis for Medically Refractory Idiopathic Intracranial Hypertension Unknown status NCT02143258
28 Transcorneal Electrical Stimulation Therapy for Retinal Disease - A Randomized, Single-blind Pilot Study Completed NCT00804102
29 A Single Visit, Observational, Follow-up Study of Patients With Leber's Hereditary Optic Neuropathy Following Participation in SNT-II-003 Trial Completed NCT01421381
30 Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON) Completed NCT02796274
31 Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey Completed NCT01892943
32 Safety and Efficacy Study of a Single Intravitreal Injection of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy Completed NCT01267422 rAAV2-ND4
33 Identification of Biomarkers in Patients With Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
34 Effects of Subtenon-injected Autologous Platelet-rich Plasma on Visual Functions in Eyes With Retinitis Pigmentosa Completed NCT04238858
35 Evaluation of Refractive Status and Ophthalmological Problems of Prematurity Completed NCT01045616
36 Macular Appearance After Diabetic Vitrectomy for Fibrovascular Proliferation -An Optical Coherence Tomography Study Completed NCT00737022
37 Oral Vitamin B12 as Potential Treatment of Recurrent Aphthous Stomatitis Completed NCT00288769 daily sublingual tablets Vitamin B12 1000 mcg versus placebo
38 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
39 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
40 Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients Recruiting NCT03295071
41 New Non-invasive Modalities for Assessing Retinal Structure and Function:Preliminary Investigation Recruiting NCT03475173
42 A Non-interventional Study of Clinical Experience in Patients Prescribed Raxone® for the Treatment of Leber's Hereditary Optic Neuropathy (LHON) Recruiting NCT02771379 Idebenone
43 The Cohort Study of Early Visual Impairment Mechanism Caused by Change of Fundus Structure in Adults With High Myopia Recruiting NCT03446300
44 Efficacy Study of Gene Therapy for The Treatment of Acute LHON Onset Within Three Months Recruiting NCT03428178 rAAV2-ND4
45 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
46 International Tracking Neurodegeneration in Early Wolfram Syndrome Recruiting NCT03951298
47 Pilot Study for the Development of a Cortical Visual Neuroprosthesis for the Blind Based on Intracortical Microelectrodes Recruiting NCT02983370
48 Wolfram Syndrome International Registry and Clinical Study Recruiting NCT02841553
49 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
50 Natural History of ATP1A3-related Disease: a Deep Phenotyping-genotyping Project Active, not recruiting NCT03857607

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, Testes, Pituitary, Bone, Retina, Heart

Publications for 3-Methylglutaconic Aciduria, Type Iii

Articles related to 3-Methylglutaconic Aciduria, Type Iii:

(show top 50) (show all 4247)
# 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 24 6 56
11668429 2001
2
3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. 61 24 56 6
12126933 2002
3
Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep. 61 56 24
26190011 2015
4
Costeff syndrome: clinical features and natural history. 24 56 61
25201222 2014
5
Costeff optic atrophy syndrome: new clinical case and novel molecular findings. 61 24 56
18985435 2008
6
3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome. 61 56 24
7510656 1994
7
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. 56 61 54
9097959 1997
8
A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping. 61 56
23700088 2013
9
Costeff Syndrome 61 6
20301646 2006
10
Behr's syndrome and 3-methylglutaconic aciduria. 56 61
1384336 1992
11
3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4'). 56 61
1382150 1992
12
A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. 61 56
2494568 1989
13
Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy. 24 61
31928268 2019
14
Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation. 61 24
28050599 2017
15
The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome. 61 24
25657044 2015
16
Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria. 24 61
24749080 2014
17
Musculoskeletal deformities in Behr syndrome. 24 61
11433166 2001
18
Behr syndrome. 56
7538304 1995
19
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. 24
30114719 2018
20
Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review. 24
29976148 2018
21
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
22
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
23
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. 24
23355087 2013
24
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. 24
23296368 2013
25
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. 54 61
20350831 2010
26
Phenotypic spectrum of MFN2 mutations in the Spanish population. 61 54
19889647 2010
27
OPA1-associated disorders: phenotypes and pathophysiology. 54 61
19389487 2009
28
OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background. 61 54
19619285 2009
29
Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect. 54 61
19325939 2009
30
Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. 61 54
18946002 2008
31
Sporadic bilateral optic neuropathy in children: the role of mitochondrial abnormalities. 54 61
18676632 2008
32
Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findings. 61 54
18996695 2008
33
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function. 61 54
18678599 2008
34
Association study of the effect of WFS1 polymorphisms on risk of type 2 diabetes in Japanese population. 54 61
19258739 2008
35
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1. 54 61
18688868 2008
36
Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene. 54 61
18544103 2008
37
Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program. 61 54
18060660 2008
38
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. 54 61
18158317 2008
39
A missense mutation in the murine Opa3 gene models human Costeff syndrome. 61 54
18222992 2008
40
Sodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress. 54 61
17947299 2008
41
The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment. 54 61
18193945 2008
42
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. 61 54
17846994 2007
43
Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome. 61 54
17568405 2007
44
[A novel mutation of the OPA1 gene responsible for isolated autosomal dominant optic atrophy in two brothers]. 54 61
17318099 2007
45
WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum. 54 61
16989814 2006
46
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. 24
16055927 2006
47
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. 54 61
16648378 2006
48
Mitochondrial dynamics and disease, OPA1. 54 61
16737747 2006
49
Novel OPA1 mutations identified in Japanese pedigrees with optic atrophy. 61 54
16735988 2006
50
Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy. 54 61
16513463 2006

Variations for 3-Methylglutaconic Aciduria, Type Iii

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

6 (show top 50) (show all 288) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP 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 523244 1:146618988-147824207
2 AFG3L2 NM_006796.2(AFG3L2):c.1402C>T (p.Arg468Cys)SNV Pathogenic 565275 rs1020764190 18:12351329-12351329 18:12351330-12351330
3 OPA3 NC_000019.10:g.(?_45584613)_(45584774_?)deldeletion Pathogenic 831267 19:46087871-46088032
4 OPA3 NM_025136.4(OPA3):c.143-1G>CSNV Pathogenic 4239 rs80356523 19:46057170-46057170 19:45553912-45553912
5 OPA3 NM_025136.4(OPA3):c.313C>G (p.Gln105Glu)SNV Pathogenic 4241 rs80356525 19:46056999-46056999 19:45553741-45553741
6 OPA3 NM_025136.4(OPA3):c.322_339del (p.Gln108_Glu113del)deletion Pathogenic 4242 rs80356526 19:46056973-46056990 19:45553715-45553732
7 PMPCA NM_015160.3(PMPCA):c.1066G>A (p.Gly356Ser)SNV Pathogenic 221553 rs768643552 9:139313082-139313082 9:136418630-136418630
8 PMPCA NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr)SNV Pathogenic 221552 rs753611141 9:139313299-139313299 9:136418847-136418847
9 MECR NM_016011.4(MECR):c.772C>T (p.Arg258Trp)SNV Pathogenic 374882 rs145192716 1:29527086-29527086 1:29200574-29200574
10 MECR NM_016011.5(MECR):c.247_250del (p.Asn83fs)deletion Pathogenic 374883 rs1057519287 1:29543124-29543127 1:29216612-29216615
11 MECR NM_016011.5(MECR):c.855T>G (p.Tyr285Ter)SNV Pathogenic/Likely pathogenic 374879 rs1057519286 1:29522746-29522746 1:29196234-29196234
12 MECR NM_016011.5(MECR):c.854A>G (p.Tyr285Cys)SNV Pathogenic/Likely pathogenic 374881 rs759218713 1:29522747-29522747 1:29196235-29196235
13 ISCA2 NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)SNV Pathogenic/Likely pathogenic 183353 rs730882246 14:74961032-74961032 14:74494329-74494329
14 PIGQ NM_004204.4(PIGQ):c.619C>T (p.Arg207Ter)SNV Pathogenic/Likely pathogenic 183339 rs730882240 16:624693-624693 16:574693-574693
15 MECR NM_016011.5(MECR):c.830+2dupduplication Pathogenic/Likely pathogenic 449055 rs756421370 1:29527026-29527026 1:29200513-29200514
16 OPA3 NM_025136.4(OPA3):c.142+1G>ASNV Likely pathogenic 552448 rs1555736793 19:46087880-46087880 19:45584622-45584622
17 OPA3 NM_025136.4(OPA3):c.217dup (p.Glu73fs)duplication Likely pathogenic 554806 rs1555732963 19:46057094-46057095 19:45553836-45553837
18 OPA3 NM_025136.4(OPA3):c.100dup (p.Ser34fs)duplication Likely pathogenic 557484 rs1555736803 19:46087922-46087923 19:45584664-45584665
19 OPA3 NM_025136.4(OPA3):c.61A>T (p.Lys21Ter)SNV Likely pathogenic 555674 rs1555736814 19:46087962-46087962 19:45584704-45584704
20 OPA3 NM_025136.4(OPA3):c.254G>A (p.Gly85Asp)SNV Likely pathogenic 807645 19:46057058-46057058 19:45553800-45553800
21 MYCN NC_000002.11:g.15744252_17675820deldeletion Likely pathogenic 812922 2:15744252-17675820
22 OPA3 NC_000019.10:g.(?_45553504)_(45553921_?)deldeletion Likely pathogenic 830708 19:46056762-46057179
23 OPA3 NM_025136.4(OPA3):c.415C>T (p.Gln139Ter)SNV Likely pathogenic 21710 rs28937899 19:46056897-46056897 19:45553639-45553639
24 OPA3 NM_025136.4(OPA3):c.539A>G (p.Ter180Trp)SNV Likely pathogenic 370448 rs1057516497 19:46056773-46056773 19:45553515-45553515
25 OAT NM_000274.3(OAT):c.875A>G (p.Lys292Arg)SNV Likely pathogenic 374146 rs1057518927 10:126091521-126091521 10:124402952-124402952
26 MECR NM_016011.5(MECR):c.695G>A (p.Gly232Glu)SNV Likely pathogenic 374878 rs762913101 1:29528516-29528516 1:29202004-29202004
27 OPA3 NM_001017989.2(OPA3):c.-113T>CSNV Conflicting interpretations of pathogenicity 369268 rs139731330 19:46088135-46088135 19:45584877-45584877
28 OPA3 NM_025136.4(OPA3):c.*398G>TSNV Conflicting interpretations of pathogenicity 329676 rs183851663 19:46056374-46056374 19:45553116-45553116
29 OPA3 NM_025136.4(OPA3):c.*80G>TSNV Conflicting interpretations of pathogenicity 329683 rs540023428 19:46056692-46056692 19:45553434-45553434
30 OPA3 NM_025136.4(OPA3):c.*422C>TSNV Conflicting interpretations of pathogenicity 329674 rs116977551 19:46056350-46056350 19:45553092-45553092
31 OPA3 NM_025136.4(OPA3):c.*6767G>ASNV Conflicting interpretations of pathogenicity 329558 rs142898530 19:46050005-46050005 19:45546747-45546747
32 OPA3 NM_025136.4(OPA3):c.*6442A>GSNV Conflicting interpretations of pathogenicity 329563 rs76825983 19:46050330-46050330 19:45547072-45547072
33 OPA3 NM_025136.4(OPA3):c.*6289A>GSNV Conflicting interpretations of pathogenicity 329567 rs182293743 19:46050483-46050483 19:45547225-45547225
34 OPA3 NM_025136.4(OPA3):c.*6208C>TSNV Conflicting interpretations of pathogenicity 329570 rs139798464 19:46050564-46050564 19:45547306-45547306
35 OPA3 NM_025136.4(OPA3):c.*1642A>GSNV Conflicting interpretations of pathogenicity 329653 rs144894771 19:46055130-46055130 19:45551872-45551872
36 OPA3 NM_025136.4(OPA3):c.*3884G>ASNV Conflicting interpretations of pathogenicity 329615 rs187028696 19:46052888-46052888 19:45549630-45549630
37 OPA3 NM_025136.4(OPA3):c.*4439C>TSNV Conflicting interpretations of pathogenicity 329607 rs538388889 19:46052333-46052333 19:45549075-45549075
38 OPA3 NM_025136.4(OPA3):c.*2008C>TSNV Conflicting interpretations of pathogenicity 329646 rs144432336 19:46054764-46054764 19:45551506-45551506
39 OPA3 NM_025136.4(OPA3):c.*1238G>ASNV Conflicting interpretations of pathogenicity 329659 rs187216413 19:46055534-46055534 19:45552276-45552276
40 OPA3 NM_025136.4(OPA3):c.*1095C>ASNV Conflicting interpretations of pathogenicity 329661 rs148228876 19:46055677-46055677 19:45552419-45552419
41 OPA3 NM_025136.4(OPA3):c.*1836C>TSNV Conflicting interpretations of pathogenicity 329650 rs74717111 19:46054936-46054936 19:45551678-45551678
42 OPA3 NM_025136.4(OPA3):c.*5944G>ASNV Conflicting interpretations of pathogenicity 329575 rs190885103 19:46050828-46050828 19:45547570-45547570
43 OPA3 NM_025136.4(OPA3):c.*6688G>ASNV Conflicting interpretations of pathogenicity 329559 rs181576269 19:46050084-46050084 19:45546826-45546826
44 OPA3 NM_025136.4(OPA3):c.*2101A>TSNV Conflicting interpretations of pathogenicity 329644 rs139606810 19:46054671-46054671 19:45551413-45551413
45 OPA3 NM_025136.4(OPA3):c.*4696_*4699ATAA[8]short repeat Conflicting interpretations of pathogenicity 329598 rs58537694 19:46052048-46052049 19:45548790-45548791
46 OPA3 NM_025136.4(OPA3):c.*3360G>ASNV Conflicting interpretations of pathogenicity 329625 rs545764728 19:46053412-46053412 19:45550154-45550154
47 OPA3 NM_025136.4(OPA3):c.*3117C>TSNV Conflicting interpretations of pathogenicity 329630 rs569595277 19:46053655-46053655 19:45550397-45550397
48 OPA3 NM_025136.4(OPA3):c.*2518A>GSNV Conflicting interpretations of pathogenicity 329639 rs565012397 19:46054254-46054254 19:45550996-45550996
49 OPA3 NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser)SNV Conflicting interpretations of pathogenicity 214929 rs140959406 19:46032673-46032673 19:45529415-45529415
50 OPA3 NM_025136.4(OPA3):c.*1052C>TSNV Conflicting interpretations of pathogenicity 894552 19:46055720-46055720 19:45552462-45552462

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 inner membrane GO:0005743 9.72 PMPCA OPA1 MT-ND4 MICOS13 AFG3L2
2 mitochondrial matrix GO:0005759 9.71 PMPCA MECR ISCA2 BTD
3 peroxisome GO:0005777 9.54 MFF FIS1 DNM1L
4 mitochondrion GO:0005739 9.44 PMPCA OPA3 OPA1 MT-ND4 MICOS13 MFN2
5 mitochondrial outer membrane GO:0005741 9.43 OPA1 MFN2 MFN1 MFF FIS1 DNM1L
6 integral component of mitochondrial outer membrane GO:0031307 9.33 MFN1 MFF FIS1
7 intrinsic component of mitochondrial outer membrane GO:0031306 9.26 MFN2 MFN1

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 9.77 OPA1 DNM1L AFG3L2
2 protein targeting to mitochondrion GO:0006626 9.67 MFN2 MFF FIS1
3 positive regulation of release of cytochrome c from mitochondria GO:0090200 9.64 MFF DNM1L
4 positive regulation of dendritic spine morphogenesis GO:0061003 9.63 OPA1 DNM1L
5 mitochondrial calcium ion transmembrane transport GO:0006851 9.63 PMPCA AFG3L2
6 response to muscle activity GO:0014850 9.62 OPA1 FIS1
7 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.62 WFS1 OPA1
8 protein complex oligomerization GO:0051259 9.61 OPA1 DNM1L
9 inner mitochondrial membrane organization GO:0007007 9.61 OPA1 MICOS13
10 release of cytochrome c from mitochondria GO:0001836 9.61 MFF FIS1 DNM1L
11 GTP metabolic process GO:0046039 9.59 OPA1 MFN1
12 calcium import into the mitochondrion GO:0036444 9.58 OPA1 AFG3L2
13 cellular response to lipid GO:0071396 9.58 FIS1 DNM1L
14 regulation of mitochondrion organization GO:0010821 9.58 MFF FIS1 DNM1L
15 mitochondrion localization GO:0051646 9.57 MFN2 MFN1
16 intracellular distribution of mitochondria GO:0048312 9.56 OPA1 DNM1L
17 dynamin family protein polymerization involved in mitochondrial fission GO:0003374 9.55 OPA1 DNM1L
18 organelle fission GO:0048285 9.54 OPA1 DNM1L
19 positive regulation of mitochondrial fission GO:0090141 9.54 MFF FIS1 DNM1L
20 response to hypobaric hypoxia GO:1990910 9.52 FIS1 DNM1L
21 regulation of peroxisome organization GO:1900063 9.51 MFF DNM1L
22 peroxisome fission GO:0016559 9.5 MFF FIS1 DNM1L
23 response to flavonoid GO:1905395 9.48 FIS1 DNM1L
24 cellular response to thapsigargin GO:1904579 9.46 FIS1 DNM1L
25 mitochondrial fission GO:0000266 9.46 OPA1 MFF FIS1 DNM1L
26 mitochondrial fragmentation involved in apoptotic process GO:0043653 9.43 MFF FIS1 DNM1L
27 mitochondrion morphogenesis GO:0070584 9.35 OPA3 OPA1 MFF FIS1 DNM1L
28 mitochondrial fusion GO:0008053 9.1 OPA1 MFN2 MFN1 MFF 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 9.26 OPA1 MFN2 MFN1 DNM1L
2 GTPase activity GO:0003924 8.92 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....