MCID: 3MT007
MIFTS: 34

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 37 44 15 40 73
3-Methyl Glutaconic Aciduria 76

Classifications:



External Ids:

Disease Ontology 12 DOID:0060336
ICD10 33 E71.111
MeSH 44 C579867
KEGG 37 H00754
UMLS 73 C3696376

Summaries for 3-Methylglutaconic Aciduria

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

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 with deafness, encephalopathy, and leigh-like syndrome. An important gene associated with 3-Methylglutaconic Aciduria is OPA3 (OPA3, Outer Mitochondrial Membrane Lipid Metabolism Regulator), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Mitochondrial protein import. Affiliated tissues include eye, brain and skin, and related phenotype is cardiovascular system.

Wikipedia : 76 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 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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type viii 34.0 HTRA2 LOXL3
2 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 33.9 AUH DNAJC19 OPA3 SERAC1 TMEM70
3 3-methylglutaconic aciduria, type i 33.8 AUH DNAJC19 OPA3 SERAC1 TMEM70
4 3-methylglutaconic aciduria, type iii 33.8 AUH DNAJC19 OPA3 SERAC1 TMEM70
5 3-methylglutaconic aciduria, type iv 33.7 AUH DNAJC19 OPA3 SERAC1 TMEM70
6 barth syndrome 33.6 DNAJC19 TAZ
7 3-methylglutaconic aciduria, type v 33.5 AUH DNAJC19 OPA3 SERAC1 TAZ TMEM70
8 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 12.7
9 3-methylglutaconic aciduria, type ix 12.7
10 not otherwise specified 3-mga-uria type 12.0
11 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 11.6
12 clpb deficiency 11.5
13 behr syndrome 11.4
14 optic atrophy 3, autosomal dominant 11.4
15 mitochondrial dna depletion syndrome 4a 11.2
16 mitochondrial complex v deficiency, nuclear type 1 11.2
17 tmem70 defect 11.2
18 encephalopathy 10.5
19 dilated cardiomyopathy 10.3
20 neutropenia 10.3
21 leigh syndrome 10.3
22 cataract 10.3
23 metabolic acidosis 10.3
24 nephrocalcinosis 10.3
25 lactic acidosis 10.3
26 hypertrophic cardiomyopathy 10.3
27 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 10.1
28 cardiomyopathy, dilated, 3b 10.1
29 pearson marrow-pancreas syndrome 10.1
30 alacrima, achalasia, and mental retardation syndrome 10.1
31 polyglucosan body myopathy 1 with or without immunodeficiency 10.1
32 mitochondrial complex v deficiency, nuclear type 5 10.1
33 cerebral palsy 10.1
34 microcephaly 10.1
35 reye syndrome 10.1
36 epilepsy 10.1
37 inherited metabolic disorder 10.1
38 myotonic dystrophy 10.1
39 myotonia atrophica 10.1
40 human monocytic ehrlichiosis 10.1 CLPB DNASE1L1
41 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 10.0 SERAC1 TAZ
42 endocardial fibroelastosis 10.0 DNASE1L1 TAZ
43 organic acidemia 10.0 OPA3 SERAC1 TMEM70
44 cranial nerve disease 9.8 MT-ND1 OPA3
45 optic nerve disease 9.8 MT-ND1 OPA3
46 left ventricular noncompaction 9.7 DNASE1L1 MT-ND1 TAZ

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



Diseases related to 3-Methylglutaconic Aciduria

Symptoms & Phenotypes for 3-Methylglutaconic Aciduria

MGI Mouse Phenotypes related to 3-Methylglutaconic Aciduria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.1 HTRA2 LOXL3 OPA3 TAZ TIMM50 TMEM70

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:

41
Eye, Brain, Skin, Testes, Pancreas, Myeloid, Cortex

Publications for 3-Methylglutaconic Aciduria

Articles related to 3-Methylglutaconic Aciduria:

(show top 50) (show all 95)
# Title Authors Year
1
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. ( 30114719 )
2018
2
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. ( 28526534 )
2017
3
Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review. ( 28438368 )
2017
4
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. ( 27696117 )
2017
5
Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up. ( 28755360 )
2017
6
Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia. ( 26916670 )
2016
7
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. ( 27573165 )
2016
8
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria. ( 27208207 )
2016
9
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. ( 25650066 )
2015
10
The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome. ( 25657044 )
2015
11
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. ( 25595726 )
2015
12
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. ( 26074369 )
2015
13
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. ( 25597510 )
2015
14
REMOVED: In-silico modelling of SERAC1: Protein involved in a developmental neural disorder MEGDEL syndrome characterized by 3-methyl glutaconic aciduria type IV with sensory-neural deafness, encephalopathy and Leigh-like syndrome. ( 29887041 )
2015
15
Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria. ( 24749080 )
2014
16
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect. ( 24757000 )
2014
17
Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1. ( 23918762 )
2013
18
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. ( 23707711 )
2013
19
Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes. ( 23382305 )
2013
20
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. ( 23296368 )
2013
21
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. ( 23355087 )
2013
22
POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. ( 22405928 )
2012
23
Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria. ( 21815885 )
2011
24
Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria). ( 21455844 )
2011
25
Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion. ( 21840233 )
2011
26
3-methylglutaconic aciduria type IV: a syndrome with an evolving phenotype. ( 21646875 )
2011
27
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. ( 20350831 )
2010
28
Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. ( 20728387 )
2010
29
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. ( 20855850 )
2010
30
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. ( 19015156 )
2009
31
Induction of oxidative stress by the metabolites accumulating in 3-methylglutaconic aciduria in cerebral cortex of young rats. ( 18261750 )
2008
32
3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome in 2 siblings. ( 17621487 )
2007
33
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. ( 16527507 )
2006
34
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. ( 16541463 )
2006
35
3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset. ( 17130438 )
2006
36
Myeloid dysplasia in familial 3-methylglutaconic aciduria. ( 16462576 )
2006
37
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. ( 16736096 )
2006
38
3-methylglutaconic aciduria disorders: the clinical spectrum increases. ( 16462574 )
2006
39
A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I. ( 16354225 )
2005
40
3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features. ( 15719488 )
2005
41
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. ( 15902555 )
2005
42
Barth syndrome without 3-methylglutaconic aciduria. ( 15124852 )
2004
43
Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I. ( 15192029 )
2004
44
3-methylglutaconic aciduria type I in a boy with fever-associated seizures. ( 15033206 )
2004
45
Fungal metabolic model for type I 3-methylglutaconic aciduria. ( 15181004 )
2004
46
Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria. ( 12750979 )
2003
47
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. ( 12655555 )
2003
48
3-methylglutaconic aciduria type I is caused by mutations in AUH. ( 12434311 )
2002
49
3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. ( 12126933 )
2002
50
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. ( 11668429 )
2001

Variations for 3-Methylglutaconic Aciduria

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:

37
# Name Kegg Source Accession
1 Valine, leucine and isoleucine degradation hsa00280

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

# Super pathways Score Top Affiliating Genes
1 10.59 DNAJC19 TAZ TIMM50

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 inner membrane GO:0005743 9.35 DNAJC19 MT-ND1 TAZ TIMM50 TMEM70
2 mitochondrion GO:0005739 9.32 AUH CLPB DNAJC19 HTRA2 MT-ND1 OPA3

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to heat GO:0034605 9.16 CLPB HTRA2
2 mitochondrial respiratory chain complex I assembly GO:0032981 8.96 MT-ND1 TAZ
3 protein import into mitochondrial matrix GO:0030150 8.62 DNAJC19 TIMM50

Sources for 3-Methylglutaconic Aciduria

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
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