MCID: 3MT007
MIFTS: 38

3-Methylglutaconic Aciduria

Categories: Metabolic diseases, Genetic diseases, Rare diseases, Cardiovascular diseases, Eye diseases

Aliases & Classifications for 3-Methylglutaconic Aciduria

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 is related to 3-methylglutaconic aciduria, type iii and 3-methylglutaconic aciduria, type i, and has symptoms including athetosis and cerebellar ataxia. An important gene associated with 3-Methylglutaconic Aciduria is AUH (AU RNA Binding Methylglutaconyl-CoA Hydratase), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Mitochondrial protein import. Affiliated tissues include brain, testes and pancreas.

Wikipedia : 72 29831... more...

Related Diseases for 3-Methylglutaconic Aciduria

Diseases in the 3-Methylglutaconic Aciduria family:

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

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

(show all 44)
id Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 12.6
2 3-methylglutaconic aciduria, type i 12.5
3 3-methylglutaconic aciduria, type iv 12.5
4 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 12.5
5 3-methylglutaconic aciduria, type v 12.5
6 3-methylglutaconic aciduria, type vii, with cataracts, neurologic involvement and neutropenia 12.4
7 3-methylglutaconic aciduria, type viii 12.3
8 barth syndrome 12.1
9 clpb deficiency 11.3
10 behr syndrome 11.1
11 not otherwise specified 3-mga-uria type 11.0
12 mitochondrial dna depletion syndrome 4a 11.0
13 mitochondrial complex v deficiency, nuclear type 1 11.0
14 optic atrophy 3 with cataract 11.0
15 body dysmorphic disorder 10.3 SERAC1 TMEM70
16 cardiomyopathy 10.3
17 encephalopathy 10.3
18 lmna-related emery-dreifuss muscular dystrophy, autosomal 10.2 AUH OPA3 SERAC1
19 cataract 10.2
20 dilated cardiomyopathy 10.1
21 neutropenia 10.1
22 leigh-like syndrome 10.0
23 leigh syndrome 10.0
24 metabolic acidosis 10.0
25 nephrocalcinosis 10.0
26 cerebritis 10.0
27 lactic acidosis 10.0
28 myopathy, x-linked, with excessive autophagy 10.0 DNAJC19 TAZ
29 myotonic dystrophy 9.9
30 pearson marrow-pancreas syndrome 9.9
31 intellectual disability 9.9
32 cerebral palsy 9.9
33 optic atrophy plus syndrome 9.9
34 microcephaly 9.9
35 reye syndrome 9.9
36 cervicitis 9.9
37 diffuse leptomeningeal melanocytosis 9.7 ATPAF2 TMEM70
38 microvascular complications of diabetes 6 9.7 AUH DNAJC19 OPA3 SERAC1 TMEM70
39 cerebrooculonasal syndrome 9.7 AUH DNAJC19 OPA3 SERAC1 TMEM70
40 3-m syndrome 3 9.7 AUH DNAJC19 OPA3 SERAC1 TMEM70
41 mitral atresia 9.6 ATPAF2 TMEM70
42 charcot-marie-tooth disease, dominant intermediate f 9.4 AUH DNAJC19 OPA3 SERAC1 TAZ TMEM70
43 bone marrow failure syndrome 2 8.5 AMN AUH DNAJC19 EHHADH MT-TL1 OPA3
44 ciliopathy 4.8 AMN ATPAF2 AUH CLPB DNAJC19 EHHADH

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



Diseases related to 3-Methylglutaconic Aciduria

Symptoms & Phenotypes for 3-Methylglutaconic Aciduria

UMLS symptoms related to 3-Methylglutaconic Aciduria:


athetosis, cerebellar ataxia

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

Genetic tests related to 3-Methylglutaconic Aciduria:

id Genetic test Affiliating Genes
1 3-Methylglutaconic Aciduria 29

Anatomical Context for 3-Methylglutaconic Aciduria

MalaCards organs/tissues related to 3-Methylglutaconic Aciduria:

39
Brain, Testes, Pancreas, Skin, Myeloid, Cortex

Publications for 3-Methylglutaconic Aciduria

Articles related to 3-Methylglutaconic Aciduria:

(show top 50) (show all 90)
id Title Authors Year
1
Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review. ( 28438368 )
2017
2
Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up. ( 28755360 )
2017
3
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. ( 27696117 )
2017
4
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. ( 28526534 )
2017
5
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. ( 27573165 )
2016
6
Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia. ( 26916670 )
2016
7
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria. ( 27208207 )
2016
8
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. ( 25595726 )
2015
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
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
12
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. ( 25597510 )
2015
13
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect. ( 24757000 )
2014
14
Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria. ( 24749080 )
2014
15
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
16
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. ( 23296368 )
2013
17
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. ( 23707711 )
2013
18
Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes. ( 23382305 )
2013
19
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. ( 23355087 )
2013
20
POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. ( 22405928 )
2012
21
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
22
3-methylglutaconic aciduria type IV: a syndrome with an evolving phenotype. ( 21646875 )
2011
23
Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion. ( 21840233 )
2011
24
Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria. ( 21815885 )
2011
25
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. ( 20350831 )
2010
26
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. ( 20855850 )
2010
27
Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. ( 20728387 )
2010
28
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. ( 19015156 )
2009
29
Induction of oxidative stress by the metabolites accumulating in 3-methylglutaconic aciduria in cerebral cortex of young rats. ( 18261750 )
2008
30
3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome in 2 siblings. ( 17621487 )
2007
31
3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset. ( 17130438 )
2006
32
3-methylglutaconic aciduria disorders: the clinical spectrum increases. ( 16462574 )
2006
33
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. ( 16541463 )
2006
34
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. ( 16736096 )
2006
35
Myeloid dysplasia in familial 3-methylglutaconic aciduria. ( 16462576 )
2006
36
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
37
3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features. ( 15719488 )
2005
38
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. ( 15902555 )
2005
39
A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I. ( 16354225 )
2005
40
Fungal metabolic model for type I 3-methylglutaconic aciduria. ( 15181004 )
2004
41
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
42
3-methylglutaconic aciduria type I in a boy with fever-associated seizures. ( 15033206 )
2004
43
Barth syndrome without 3-methylglutaconic aciduria. ( 15124852 )
2004
44
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. ( 12655555 )
2003
45
Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria. ( 12750979 )
2003
46
3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. ( 12126933 )
2002
47
3-methylglutaconic aciduria type I is caused by mutations in AUH. ( 12434311 )
2002
48
Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. ( 11292221 )
2001
49
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
50
A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy. ( 11118804 )
2000

Variations for 3-Methylglutaconic Aciduria

ClinVar genetic disease variations for 3-Methylglutaconic Aciduria:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 AUH NM_001698.2(AUH): c.589C> T (p.Arg197Ter) single nucleotide variant Pathogenic rs121434636 GRCh37 Chromosome 9, 94060275: 94060275
2 AUH NM_001698.2(AUH): c.895-1G> A single nucleotide variant Pathogenic rs730880309 GRCh37 Chromosome 9, 93978389: 93978389
3 AUH NM_001698.2(AUH): c.80delG (p.Ser27Metfs) deletion Pathogenic rs730880310 GRCh37 Chromosome 9, 94124092: 94124092
4 AUH NM_001698.2(AUH): c.263-2A> G single nucleotide variant Pathogenic rs730880311 GRCh37 Chromosome 9, 94118439: 94118439
5 AUH NM_001698.2(AUH): c.943-2A> G single nucleotide variant Pathogenic rs730880312 GRCh37 Chromosome 9, 93976709: 93976709
6 MT-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
7 AUH NM_001698.2(AUH): c.559G> A (p.Gly187Ser) single nucleotide variant Pathogenic rs387906755 GRCh37 Chromosome 9, 94060305: 94060305
8 AUH NM_001698.2(AUH): c.650G> A (p.Gly217Asp) single nucleotide variant Pathogenic rs387906756 GRCh37 Chromosome 9, 94058308: 94058308
9 AUH NM_001698.2(AUH): c.991A> T (p.Lys331Ter) single nucleotide variant Pathogenic rs387906757 GRCh37 Chromosome 9, 93976659: 93976659

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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.21 AUH EHHADH MCCC2
2 10.59 DNAJC19 TAZ TIMM50

GO Terms for 3-Methylglutaconic Aciduria

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.4 ATPAF2 AUH CLPB DNAJC19 EHHADH HTRA2
2 mitochondrial inner membrane GO:0005743 9.26 DNAJC19 TAZ TIMM50 TMEM70

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

id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.73 EHHADH HMGCR MVD SERAC1
2 cellular response to heat GO:0034605 9.46 CLPB HTRA2
3 cholesterol biosynthetic process GO:0006695 9.4 HMGCR MVD
4 regulation of cholesterol biosynthetic process GO:0045540 9.37 HMGCR MVD
5 sterol biosynthetic process GO:0016126 9.32 HMGCR MVD
6 branched-chain amino acid catabolic process GO:0009083 9.26 AUH MCCC2
7 isoprenoid biosynthetic process GO:0008299 9.16 HMGCR MVD
8 coenzyme A metabolic process GO:0015936 8.96 HMGCR MCCC2
9 leucine catabolic process GO:0006552 8.62 AUH MCCC2

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

id Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.13 AUH EHHADH MVD
2 enoyl-CoA hydratase activity GO:0004300 8.62 AUH EHHADH

Sources for 3-Methylglutaconic Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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