MCID: 3MT007
MIFTS: 36

3-Methylglutaconic Aciduria

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

Aliases & Classifications for 3-Methylglutaconic Aciduria

MalaCards integrated aliases for 3-Methylglutaconic Aciduria:

Name: 3-Methylglutaconic Aciduria 12 58 36 6 43 15 39 71
3-Methyl Glutaconic Aciduria 74

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0060336
KEGG 36 H00754
MeSH 43 C579867
ICD10 32 E71.111
ICD10 via Orphanet 33 E71.1
UMLS via Orphanet 72 C3696376
Orphanet 58 ORPHA289902
UMLS 71 C3696376

Summaries for 3-Methylglutaconic Aciduria

KEGG : 36 3-Methylglutaconic aciduria (MGCA) is a group of metabolic disorders characterized by increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid. Nine distinct forms of MGCA have been recognized.

MalaCards based summary : 3-Methylglutaconic Aciduria, also known as 3-methyl glutaconic aciduria, is related to 3-methylglutaconic aciduria, type viii and 3-methylglutaconic aciduria, type iv. An important gene associated with 3-Methylglutaconic Aciduria is OPA3 (Outer Mitochondrial Membrane Lipid Metabolism Regulator OPA3), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Mitochondrial protein import. Affiliated tissues include brain, cortex and eye.

Disease Ontology : 12 An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine.

Wikipedia : 74 3-Methylglutaconic aciduria (MGA) is any of at least five metabolic disorders that impair the body's... more...

Related Diseases for 3-Methylglutaconic Aciduria

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type viii 34.9 LOXL3 HTRA2
2 3-methylglutaconic aciduria, type iv 34.7 TMEM70 SERAC1 OPA3 AUH
3 3-methylglutaconic aciduria, type v 33.8 TMEM70 TIMM50 TAZ SERAC1 OPA3 DNAJC19
4 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 33.5 TMEM70 TIMM50 TAZ SERAC1 OPA3 DNAJC19
5 barth syndrome 33.5 TMEM70 TAZ SERAC1 OPA3 DNAJC19 AGK
6 3-methylglutaconic aciduria, type i 33.4 TMEM70 TIMM50 SERAC1 OPA3 MT-TL1 EHHADH
7 3-methylglutaconic aciduria, type iii 33.1 TMEM70 TIMM50 TAZ SERAC1 OPA3 HTRA2
8 lactic acidosis 30.7 TAZ MT-TL1 AUH AGK
9 organic acidemia 30.4 TMEM70 TAZ SERAC1 OPA3 DNAJC19 AUH
10 leigh syndrome 30.4 TMEM70 SERAC1 MT-TL1 ATPAF2 ATP5F1E
11 sengers syndrome 30.1 TMEM70 TIMM50 TAZ SERAC1 DNAJC19 AGK
12 mitochondrial complex v deficiency, nuclear type 5 30.0 TMEM70 ATP5F1E ATP5F1D AGK
13 mitochondrial metabolism disease 29.0 TMEM70 SERAC1 OPA3 MT-TL1 DNAJC19 ATPAF2
14 3-methylglutaconic aciduria, type vii 13.0
15 3-methylglutaconic aciduria, type ix 13.0
16 clpb deficiency 12.4
17 optic atrophy 3, autosomal dominant 11.8
18 tmem70 defect 11.7
19 mitochondrial dna depletion syndrome 4a 11.7
20 mitochondrial complex v deficiency, nuclear type 1 11.7
21 behr syndrome 11.5
22 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 11.4
23 inherited metabolic disorder 10.6
24 hypotonia 10.6
25 atrial standstill 1 10.6
26 neutropenia 10.6
27 encephalopathy 10.6
28 spasticity 10.6
29 mitochondrial disorders 10.6
30 ataxia and polyneuropathy, adult-onset 10.5
31 branchiootic syndrome 1 10.5
32 hypertrophic cardiomyopathy 10.5
33 metabolic acidosis 10.5
34 dilated cardiomyopathy 10.5
35 cataract 10.5
36 optic atrophy 6 10.4
37 pearson marrow-pancreas syndrome 10.4
38 alacrima, achalasia, and mental retardation syndrome 10.4
39 carbonic anhydrase va deficiency, hyperammonemia due to 10.4
40 microcephaly 10.4
41 dystonia 10.4
42 hypoglycemia 10.4
43 hypertonia 10.4
44 severe congenital neutropenia 10.3
45 nephrocalcinosis 10.3
46 quadriplegia 10.3
47 myopathy 10.3
48 paraplegia 10.3
49 pathologic nystagmus 10.3
50 febrile seizures 10.3

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



Diseases related to 3-Methylglutaconic Aciduria

Symptoms & Phenotypes for 3-Methylglutaconic Aciduria

Drugs & Therapeutics for 3-Methylglutaconic Aciduria

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

Cochrane evidence based reviews: 3-methylglutaconic aciduria

Genetic Tests for 3-Methylglutaconic Aciduria

Anatomical Context for 3-Methylglutaconic Aciduria

MalaCards organs/tissues related to 3-Methylglutaconic Aciduria:

40
Brain, Cortex, Eye, Pancreas, Skin, Testes, Myeloid

Publications for 3-Methylglutaconic Aciduria

Articles related to 3-Methylglutaconic Aciduria:

(show top 50) (show all 192)
# Title Authors PMID Year
1
Complete resolution of epileptic spasms with vigabatrin in a patient with 3-methylglutaconic aciduria caused by TIMM50 gene mutation. 61
32369862 2020
2
Skd3 (human CLPB) is a potent mitochondrial protein disaggregase that is inactivated by 3-methylglutaconic aciduria-linked mutations. 61
32573439 2020
3
A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing. 61
32346411 2020
4
Coincidence of 3-methylglutaconic aciduria and duplication 5q - a case report and literature review. 61
32511901 2020
5
3-Methylglutaconic aciduria type VIII in an Indian neonate. 61
32445293 2020
6
[Clinical and genetic analysis of an infant with 3-methylglutaconic aciduria type VII]. 61
32219827 2020
7
Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response. 61
32225089 2020
8
Mitochondrial dysfunction, AMPK activation and peroxisomal metabolism: A coherent scenario for non-canonical 3-methylglutaconic acidurias. 61
31626852 2020
9
Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis. 61
31729175 2020
10
Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy. 61
31928268 2019
11
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology. 61
31058414 2019
12
Iron-sulfur cluster ISD11 deficiency (LYRM4 gene) presenting as cardiorespiratory arrest and 3-methylglutaconic aciduria. 61
31497476 2019
13
Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome. 61
31251474 2019
14
SS-31 Peptide Reverses the Mitochondrial Fragmentation Present in Fibroblasts From Patients With DCMA, a Mitochondrial Cardiomyopathy. 61
31803760 2019
15
A rare clinical association: Barth syndrome and cystic fibrosis. 61
31559736 2019
16
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. 61
30114719 2018
17
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 61
29478781 2018
18
Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability. 61
28778788 2018
19
Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up. 61
28755360 2018
20
Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome. 61
29686941 2018
21
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. 61
29205472 2017
22
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. 61
28687938 2017
23
Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review. 61
28438368 2017
24
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. 61
28526534 2017
25
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. 61
27573165 2017
26
Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort. 61
28183324 2017
27
Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome? 61
27928778 2017
28
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. 61
27696117 2017
29
Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit. 61
27485409 2016
30
When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription. 61
26853223 2016
31
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria. 61
27208207 2016
32
Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome. 61
27426421 2016
33
Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome. 61
27358708 2016
34
Transient neonatal renal failure and massive polyuria in MEGDEL syndrome. 61
27331002 2016
35
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 61
27290639 2016
36
Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia. 61
26916670 2016
37
BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE. 61
30226969 2016
38
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation? 61
26724946 2016
39
Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review. 61
26074369 2015
40
Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep. 61
26190011 2015
41
Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation. 61
27186703 2015
42
MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene. 61
25051967 2015
43
A novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome. 61
25776009 2015
44
TMEM70 deficiency: long-term outcome of 48 patients. 61
25326274 2015
45
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. 61
25650066 2015
46
The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome. 61
25657044 2015
47
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome. 61
25642805 2015
48
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. 61
25595726 2015
49
Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype. 61
25112388 2015
50
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. 61
25597510 2015

Variations for 3-Methylglutaconic Aciduria

ClinVar genetic disease variations for 3-Methylglutaconic Aciduria:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNAJC19 NM_145261.4(DNAJC19):c.62A>T (p.Tyr21Phe)SNV Uncertain significance 587633 rs752913622 3:180705878-180705878 3:180988090-180988090

Expression for 3-Methylglutaconic Aciduria

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

Pathways for 3-Methylglutaconic Aciduria

Pathways related to 3-Methylglutaconic Aciduria according to KEGG:

36
# Name Kegg Source Accession
1 Valine, leucine and isoleucine degradation hsa00280

GO Terms for 3-Methylglutaconic Aciduria

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.67 MCCC2 AUH ATP5F1E ATP5F1D
2 mitochondrial membrane GO:0031966 9.58 TAZ HTRA2 AGK
3 mitochondrial inner membrane GO:0005743 9.5 TMEM70 TIMM50 TAZ DNAJC19 ATP5F1E ATP5F1D
4 mitochondrion GO:0005739 9.47 TMEM70 TIMM50 TAZ SERAC1 OPA3 MCCC2
5 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.32 ATP5F1E ATP5F1D
6 proton-transporting ATP synthase complex, catalytic core F(1) GO:0045261 9.26 ATP5F1E ATP5F1D
7 mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) GO:0000275 9.16 ATP5F1E ATP5F1D

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

# Name GO ID Score Top Affiliating Genes
1 ATP biosynthetic process GO:0006754 9.46 ATP5F1E ATP5F1D
2 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.43 ATP5F1E ATP5F1D
3 ATP synthesis coupled proton transport GO:0015986 9.4 ATP5F1E ATP5F1D
4 branched-chain amino acid catabolic process GO:0009083 9.37 MCCC2 AUH
5 protein import into mitochondrial matrix GO:0030150 9.32 TIMM50 DNAJC19
6 mitochondrial proton-transporting ATP synthase complex assembly GO:0033615 9.26 TMEM70 ATP5F1D
7 leucine catabolic process GO:0006552 9.16 MCCC2 AUH
8 coenzyme A metabolic process GO:0015936 8.96 MCCC2 HMGCR
9 cristae formation GO:0042407 8.8 TAZ ATP5F1E ATP5F1D

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

# Name GO ID Score Top Affiliating Genes
1 proton-transporting ATP synthase activity, rotational mechanism GO:0046933 8.96 ATP5F1E ATP5F1D
2 enoyl-CoA hydratase activity GO:0004300 8.62 EHHADH AUH

Sources for 3-Methylglutaconic Aciduria

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
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