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MGA3
MCID: 3MT016
MIFTS: 62

3-Methylglutaconic Aciduria, Type Iii (MGA3)

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

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

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

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:

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


External Ids:

OMIM 57 258501
Disease Ontology 12 DOID:0110004 DOID:5723
ICD9CM 35 377.1 377.10
NCIt 50 C34863
SNOMED-CT 68 76976005
Orphanet 59 ORPHA67047
MESH via Orphanet 45 C535311
UMLS via Orphanet 74 C0574084
ICD10 via Orphanet 34 E71.1
MedGen 42 C0574084
KEGG 37 H01020
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Summaries for 3-Methylglutaconic Aciduria, Type Iii

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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)

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 behr 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 (OPA3, Outer Mitochondrial Membrane Lipid Metabolism Regulator), and among its related pathways/superpathways is Mitochondrial protein import. Affiliated tissues include eye, bone and testes, and related phenotypes are ataxia and dysarthria

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

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

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

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Diseases in the 3-Methylglutaconic Aciduria family:

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

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

(show top 50) (show all 372)
# Related Disease Score Top Affiliating Genes
1 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 33.5 OPA1 OPA3
2 behr syndrome 32.5 OPA1 OPA3
3 mohr-tranebjaerg syndrome 32.4 SERAC1 TIMM8A
4 optic atrophy 1 32.2 MFN2 OPA1 OPA6
5 3-methylglutaconic aciduria, type v 31.9 AUH DNAJC19 MT-ND4 OPA3 SERAC1 TMEM70
6 3-methylglutaconic aciduria, type i 31.8 AUH DNAJC19 OPA3 SERAC1 TMEM70
7 3-methylglutaconic aciduria 31.0 AUH DNAJC19 OPA3 SERAC1 TMEM70
8 optic nerve disease 30.6 BTD MFN2 MT-ND4 OPA1 OPA3 WFS1
9 peripheral nervous system disease 30.5 MFN2 MT-ND4 WFS1
10 autosomal dominant optic atrophy plus syndrome 12.6
11 spastic paraplegia, optic atrophy, and neuropathy 12.6
12 optic atrophy 2 12.6
13 bosch-boonstra-schaaf optic atrophy syndrome 12.6
14 optic atrophy 7 with or without auditory neuropathy 12.6
15 leber optic atrophy 12.5
16 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 12.5
17 optic atrophy 5 12.5
18 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 12.4
19 optic atrophy 11 12.4
20 encephalopathy, progressive, with amyotrophy and optic atrophy 12.4
21 cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 12.4
22 auditory neuropathy and optic atrophy 12.4
23 optic atrophy 9 12.4
24 optic atrophy 10 with or without ataxia, mental retardation, and seizures 12.4
25 leber optic atrophy and dystonia 12.4
26 glaucomatous atrophy of optic disc 12.4
27 autosomal recessive isolated optic atrophy 12.4
28 leber hereditary optic neuropathy 12.4
29 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive 12.3
30 optic atrophy 8 12.3
31 primary optic atrophy 12.3
32 partial optic atrophy 12.3
33 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation 12.3
34 metaphyseal dysplasia, anetoderma, and optic atrophy 12.2
35 optic atrophy 6 12.2
36 wolfram syndrome 12.2
37 autosomal dominant optic atrophy and peripheral neuropathy 12.2
38 optic atrophy with negative electroretinograms 12.2
39 peho syndrome 12.1
40 gapo syndrome 12.1
41 charcot-marie-tooth disease, x-linked recessive, 5 12.1
42 optic atrophy--spastic paraplegia syndrome 12.1
43 optic atrophy 4 12.1
44 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome 12.1
45 wolfram syndrome 1 12.1
46 friedreich ataxia, so-called, with optic atrophy and sensorineural deafness 12.1
47 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant 12.1
48 optic atrophy with demyelinating disease of cns 12.1
49 spastic paraplegia, optic atrophy, and dementia 12.1
50 mental retardation with optic atrophy, deafness, and seizures 12.1

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



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

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Symptoms via clinical synopsis from OMIM:

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

Head And Neck Eyes:
optic atrophy
decreased visual acuity


Clinical features from OMIM:

258501

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

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

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


ataxia, abnormality of extrapyramidal motor function, muscle spasticity
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Drugs & Therapeutics for 3-Methylglutaconic Aciduria, Type Iii

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

Cochrane evidence based reviews: optic atrophy

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Genetic Tests for 3-Methylglutaconic Aciduria, Type Iii

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

# Genetic test Affiliating Genes
1 Optic Atrophy 29
2 3-Methylglutaconic Aciduria Type 3 29 OPA3
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Anatomical Context for 3-Methylglutaconic Aciduria, Type Iii

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

41
Eye, Bone, Testes, Brain, Lung, Prostate, T Cells
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Publications for 3-Methylglutaconic Aciduria, Type Iii

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Articles related to 3-Methylglutaconic Aciduria, Type Iii:

(show top 50) (show all 945)
# Title Authors Year
1
Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion. ( 30395865 )
2019
2
Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene. ( 28820624 )
2018
3
Leber Optic Atrophy ( 29494105 )
2018
4
Refractory Giant Cell Arteritis Complicated by Vision Loss From Optic Atrophy and Maculopathy Associated With Pachymeningitis. ( 29059089 )
2018
5
A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders. ( 29340645 )
2018
6
Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation. ( 29410510 )
2018
7
Orphan disease: Cherubism, optic atrophy, and short stature. ( 29692538 )
2018
8
<i>GLS</i> loss of function causes autosomal recessive spastic ataxia and optic atrophy. ( 29468182 )
2018
9
Macular choroidal thickness and peripapillary retinal nerve fiber layer thickness in normal adults and patients with optic atrophy due to acute idiopathic demyelinating optic neuritis. ( 29856811 )
2018
10
Enhancing fatty acid utilization ameliorates mitochondrial fragmentation and cardiac dysfunction via rebalancing optic atrophy 1 processing in the failing heart. ( 29490017 )
2018
11
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy. ( 30487246 )
2018
12
Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes. ( 30100179 )
2018
13
Perinatal Chikungunya Virus-associated Encephalitis Leading to Postnatal-Onset Microcephaly and Optic Atrophy. ( 28737626 )
2018
14
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy. ( 30012219 )
2018
15
Acute visual loss and optic disc edema followed by optic atrophy in two cases with deeply buried optic disc drusen: a mimicker of atypical optic neuritis. ( 30367617 )
2018
16
The relationship between optic atrophy 1 polymorphism and normal tension glaucoma in Taiwan. ( 30038886 )
2018
17
The cristae modulator Optic atrophy 1 requires mitochondrial ATP synthase oligomers to safeguard mitochondrial function. ( 30143614 )
2018
18
ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia. ( 29564393 )
2018
19
Optic atrophy after cabazitaxel treatment in a patient with castration-resistant prostate cancer: a case report. ( 30396314 )
2018
20
Overexpression of Optic Atrophy Type 1 Protects Retinal Ganglion Cells and Upregulates Parkin Expression in Experimental Glaucoma. ( 30323741 )
2018
21
Retinal dysfunction characterizes subtypes of dominant optic atrophy. ( 28926202 )
2018
22
Thickness mapping of individual retinal layers and sectors by Spectralis SD-OCT in Autosomal Dominant Optic Atrophy. ( 29091347 )
2018
23
A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree. ( 29350691 )
2018
24
OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model. ( 29410463 )
2018
25
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. ( 29554255 )
2018
26
Bortezomib-Associated Optic Atrophy in Two Patients With Multiple Myeloma. ( 29746371 )
2018
27
Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants. ( 29952689 )
2018
28
Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy. ( 30165240 )
2018
29
Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation. ( 30252181 )
2018
30
Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy. ( 30260717 )
2018
31
Validating the RedMIT/GFP-LC3 Mouse Model by Studying Mitophagy in Autosomal Dominant Optic Atrophy Due to the OPA1Q285STOP Mutation. ( 30283778 )
2018
32
Bilateral Optic Atrophy in an Adolescent Male Patient. ( 30422218 )
2018
33
OCT-documented optic atrophy in nonsyndromic craniosynostosis and lacunar skull. ( 28087347 )
2017
34
Dominant Optic Atrophy and Leber's Hereditary Optic Neuropathy: Update on Clinical Features and Current Therapeutic Approaches. ( 28941528 )
2017
35
Compound Heterozygote Mutation of C12orf65 Causes Distal Motor Neuropathy and Optic Atrophy. ( 28091420 )
2017
36
Longitudinal optical coherence tomography study of optic atrophy in secondary progressive multiple sclerosis: Results from a clinical trial cohort. ( 29111873 )
2017
37
Retinal Vessel Density in Optical Coherence Tomography Angiography in Optic Atrophy after Nonarteritic Anterior Ischemic Optic Neuropathy. ( 28316838 )
2017
38
Optical coherence tomography angiography of the peripapillary retina and optic nerve head in dominant optic atrophy. ( 28286264 )
2017
39
CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. ( 28777376 )
2017
40
Atypical Tolosa Hunt syndrome with bilateral sclerokeratitis and optic atrophy in Takayasu's arteritis. ( 29503945 )
2017
41
Foveal hypoplasia in short stature with optic atrophy and Pelger-HuA<t anomaly syndrome with neuroblastoma-amplified sequence (NBAS) gene mutation. ( 28115293 )
2017
42
Mitofusin 1 and optic atrophy 1 shift metabolism to mitochondrial respiration during aging. ( 28758339 )
2017
43
A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy. ( 28369803 )
2017
44
Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. ( 27974645 )
2017
45
T-Cell Intracellular Antigens and Hu Antigen R Antagonistically Modulate Mitochondrial Activity and Dynamics by Regulating Optic Atrophy 1 Gene Expression. ( 28630277 )
2017
46
Optic atrophy 1 mediates coenzyme Q-responsive regulation of respiratory complex IV activity in brain mitochondria. ( 28890359 )
2017
47
Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay. ( 28841713 )
2017
48
OPA1 analysis in an international series of probands with bilateral optic atrophy. ( 27860320 )
2017
49
Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission. ( 28969390 )
2017
50
Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome. ( 28963436 )
2017
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Variations for 3-Methylglutaconic Aciduria, Type Iii

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

6 (show top 50) (show all 388)
# Gene Variation Type Significance SNP ID Assembly Location
1 OPA3 NM_025136.3(OPA3): c.143-1G> C single nucleotide variant Pathogenic rs80356523 GRCh37 Chromosome 19, 46057170: 46057170
2 OPA3 NM_025136.3(OPA3): c.143-1G> C single nucleotide variant Pathogenic rs80356523 GRCh38 Chromosome 19, 45553912: 45553912
3 OPA3 NM_025136.3(OPA3): c.320_337del18 (p.Gln108_Glu113del) deletion Pathogenic rs80356526 GRCh37 Chromosome 19, 46056975: 46056992
4 OPA3 NM_025136.3(OPA3): c.320_337del18 (p.Gln108_Glu113del) deletion Pathogenic rs80356526 GRCh38 Chromosome 19, 45553717: 45553734
5 OPA3 NM_025136.3(OPA3): c.231T> C (p.Ala77=) single nucleotide variant Benign rs3826860 GRCh37 Chromosome 19, 46057081: 46057081
6 OPA3 NM_025136.3(OPA3): c.231T> C (p.Ala77=) single nucleotide variant Benign rs3826860 GRCh38 Chromosome 19, 45553823: 45553823
7 OPA3 NM_025136.3(OPA3): c.415C> T (p.Gln139Ter) single nucleotide variant Likely pathogenic rs28937899 GRCh37 Chromosome 19, 46056897: 46056897
8 OPA3 NM_025136.3(OPA3): c.415C> T (p.Gln139Ter) single nucleotide variant Likely pathogenic rs28937899 GRCh38 Chromosome 19, 45553639: 45553639
9 OPA3 NM_025136.3(OPA3): c.-38A> G single nucleotide variant Benign/Likely benign rs45527139 GRCh37 Chromosome 19, 46088060: 46088060
10 OPA3 NM_025136.3(OPA3): c.-38A> G single nucleotide variant Benign/Likely benign rs45527139 GRCh38 Chromosome 19, 45584802: 45584802
11 OPA1 NM_015560.2(OPA1): c.1712G> A (p.Arg571His) single nucleotide variant Uncertain significance rs140606054 GRCh37 Chromosome 3, 193365865: 193365865
12 OPA1 NM_015560.2(OPA1): c.1712G> A (p.Arg571His) single nucleotide variant Uncertain significance rs140606054 GRCh38 Chromosome 3, 193648076: 193648076
13 ISCA2 NM_194279.3(ISCA2): c.229G> A (p.Gly77Ser) single nucleotide variant Pathogenic/Likely pathogenic rs730882246 GRCh38 Chromosome 14, 74494329: 74494329
14 ISCA2 NM_194279.3(ISCA2): c.229G> A (p.Gly77Ser) single nucleotide variant Pathogenic/Likely pathogenic rs730882246 GRCh37 Chromosome 14, 74961032: 74961032
15 PIGQ NM_004204.3(PIGQ): c.619C> T (p.Arg207Ter) single nucleotide variant Likely pathogenic rs730882240 GRCh38 Chromosome 16, 574693: 574693
16 PIGQ NM_004204.3(PIGQ): c.619C> T (p.Arg207Ter) single nucleotide variant Likely pathogenic rs730882240 GRCh37 Chromosome 16, 624693: 624693
17 PMPCA NM_015160.2(PMPCA): c.1066G> A (p.Gly356Ser) single nucleotide variant Pathogenic rs768643552 GRCh37 Chromosome 9, 139313082: 139313082
18 PMPCA NM_015160.2(PMPCA): c.1066G> A (p.Gly356Ser) single nucleotide variant Pathogenic rs768643552 GRCh38 Chromosome 9, 136418630: 136418630
19 PMPCA NM_015160.2(PMPCA): c.1129G> A (p.Ala377Thr) single nucleotide variant Pathogenic rs753611141 GRCh38 Chromosome 9, 136418847: 136418847
20 PMPCA NM_015160.2(PMPCA): c.1129G> A (p.Ala377Thr) single nucleotide variant Pathogenic rs753611141 GRCh37 Chromosome 9, 139313299: 139313299
21 OPA3 NM_025136.3(OPA3): c.412G> A (p.Ala138Thr) single nucleotide variant Benign/Likely benign rs201574732 GRCh37 Chromosome 19, 46056900: 46056900
22 OPA3 NM_025136.3(OPA3): c.412G> A (p.Ala138Thr) single nucleotide variant Benign/Likely benign rs201574732 GRCh38 Chromosome 19, 45553642: 45553642
23 OPA3 NM_025136.3(OPA3): c.*7181G> A single nucleotide variant Likely benign rs74253369 GRCh38 Chromosome 19, 45546333: 45546333
24 OPA3 NM_025136.3(OPA3): c.*7181G> A single nucleotide variant Likely benign rs74253369 GRCh37 Chromosome 19, 46049591: 46049591
25 OPA3 NM_025136.3(OPA3): c.*6674T> C single nucleotide variant Uncertain significance rs534603782 GRCh38 Chromosome 19, 45546840: 45546840
26 OPA3 NM_025136.3(OPA3): c.*6674T> C single nucleotide variant Uncertain significance rs534603782 GRCh37 Chromosome 19, 46050098: 46050098
27 OPA3 NM_025136.3(OPA3): c.*6012A> G single nucleotide variant Benign rs11083772 GRCh38 Chromosome 19, 45547502: 45547502
28 OPA3 NM_025136.3(OPA3): c.*6012A> G single nucleotide variant Benign rs11083772 GRCh37 Chromosome 19, 46050760: 46050760
29 OPA3 NM_025136.3(OPA3): c.*5783G> A single nucleotide variant Likely benign rs550679720 GRCh38 Chromosome 19, 45547731: 45547731
30 OPA3 NM_025136.3(OPA3): c.*5783G> A single nucleotide variant Likely benign rs550679720 GRCh37 Chromosome 19, 46050989: 46050989
31 OPA3 NM_025136.3(OPA3): c.*5774G> C single nucleotide variant Uncertain significance rs886054510 GRCh38 Chromosome 19, 45547740: 45547740
32 OPA3 NM_025136.3(OPA3): c.*5774G> C single nucleotide variant Uncertain significance rs886054510 GRCh37 Chromosome 19, 46050998: 46050998
33 OPA3 NM_025136.3(OPA3): c.*5496C> T single nucleotide variant Uncertain significance rs886054511 GRCh38 Chromosome 19, 45548018: 45548018
34 OPA3 NM_025136.3(OPA3): c.*5496C> T single nucleotide variant Uncertain significance rs886054511 GRCh37 Chromosome 19, 46051276: 46051276
35 OPA3 NM_025136.3(OPA3): c.*4954C> T single nucleotide variant Uncertain significance rs146646433 GRCh38 Chromosome 19, 45548560: 45548560
36 OPA3 NM_025136.3(OPA3): c.*4954C> T single nucleotide variant Uncertain significance rs146646433 GRCh37 Chromosome 19, 46051818: 46051818
37 OPA3 NM_025136.3(OPA3): c.*4949G> A single nucleotide variant Likely benign rs544881797 GRCh38 Chromosome 19, 45548565: 45548565
38 OPA3 NM_025136.3(OPA3): c.*4949G> A single nucleotide variant Likely benign rs544881797 GRCh37 Chromosome 19, 46051823: 46051823
39 OPA3 NM_025136.3(OPA3): c.*4857A> T single nucleotide variant Benign rs4803833 GRCh38 Chromosome 19, 45548657: 45548657
40 OPA3 NM_025136.3(OPA3): c.*4857A> T single nucleotide variant Benign rs4803833 GRCh37 Chromosome 19, 46051915: 46051915
41 OPA3 NM_025136.3(OPA3): c.*4853T> A single nucleotide variant Uncertain significance rs886054516 GRCh38 Chromosome 19, 45548661: 45548661
42 OPA3 NM_025136.3(OPA3): c.*4853T> A single nucleotide variant Uncertain significance rs886054516 GRCh37 Chromosome 19, 46051919: 46051919
43 OPA3 NM_025136.3(OPA3): c.*4147_*4151delCCCTG deletion Benign rs68079762 GRCh38 Chromosome 19, 45549363: 45549367
44 OPA3 NM_025136.3(OPA3): c.*4147_*4151delCCCTG deletion Benign rs68079762 GRCh37 Chromosome 19, 46052621: 46052625
45 OPA3 NM_025136.3(OPA3): c.*3874G> A single nucleotide variant Likely benign rs62109650 GRCh38 Chromosome 19, 45549640: 45549640
46 OPA3 NM_025136.3(OPA3): c.*3874G> A single nucleotide variant Likely benign rs62109650 GRCh37 Chromosome 19, 46052898: 46052898
47 OPA3 NM_025136.3(OPA3): c.*3496C> G single nucleotide variant Uncertain significance rs749084024 GRCh38 Chromosome 19, 45550018: 45550018
48 OPA3 NM_025136.3(OPA3): c.*3496C> G single nucleotide variant Uncertain significance rs749084024 GRCh37 Chromosome 19, 46053276: 46053276
49 OPA3 NM_025136.3(OPA3): c.*3353_*3357delTCTTT deletion Likely benign rs373580645 GRCh38 Chromosome 19, 45550157: 45550161
50 OPA3 NM_025136.3(OPA3): c.*3353_*3357delTCTTT deletion Likely benign rs373580645 GRCh37 Chromosome 19, 46053415: 46053419

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

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

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

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

# Super pathways Score Top Affiliating Genes
1
Mitochondrial protein import 66
10.59 DNAJC19 PMPCA TIMM8A
Sources

GO Terms for 3-Methylglutaconic Aciduria, Type Iii

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.61 AFG3L2 C19orf70 DNAJC19 MT-ND4 OPA1 PMPCA
2 mitochondrial matrix GO:0005759 9.56 AUH BTD ISCA2 PMPCA
3 mitochondrion GO:0005739 9.47 AFG3L2 AUH C19orf70 DNAJC19 ISCA2 MFN2
4 m-AAA complex GO:0005745 9.16 AFG3L2 SPG7

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 9.5 AFG3L2 OPA1 SPG7
2 cristae formation GO:0042407 9.46 AFG3L2 C19orf70
3 visual perception GO:0007601 9.46 DNAJC19 OPA1 OPA3 WFS1
4 protein targeting to mitochondrion GO:0006626 9.43 DNAJC19 MFN2
5 mitochondrion morphogenesis GO:0070584 9.4 OPA1 OPA3
6 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.37 OPA1 WFS1
7 calcium import into the mitochondrion GO:0036444 9.26 AFG3L2 OPA1
8 mitochondrial calcium ion transmembrane transport GO:0006851 9.13 AFG3L2 PMPCA SPG7
9 mitochondrial fusion GO:0008053 8.8 AFG3L2 MFN2 OPA1

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

# Name GO ID Score Top Affiliating Genes
1 metallopeptidase activity GO:0008237 9.13 AFG3L2 PMPCA SPG7
2 metalloendopeptidase activity GO:0004222 8.8 AFG3L2 PMPCA SPG7
Sources

Sources for 3-Methylglutaconic Aciduria, Type Iii

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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