MCID: 3MT007
MIFTS: 39

3-Methylglutaconic Aciduria malady

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 MT-TL1 (Mitochondrially Encoded TRNA Leucine 1 (UUA/G)), and among its related pathways/superpathways are Sterol Regulatory Element-Binding Proteins (SREBP) signalling and Valine, leucine and isoleucine degradation. Affiliated tissues include brain, testes and skin.

Wikipedia : 71 3-Methylglutaconic aciduria (MGA) is used to describe at least five disorders that impair the body\'s... more...

Related Diseases for 3-Methylglutaconic Aciduria

Diseases in the 3-Methylglutaconic Aciduria family:

3-Methylglutaconic Aciduria, Type V 3-Methylglutaconic Aciduria, Type I
3-Methylglutaconic Aciduria, Type Iii 3-Methylglutaconic Aciduria, Type Iv
3-Methylglutaconic Aciduria 8

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 12.5
7 3-methylglutaconic aciduria 8 12.3
8 barth syndrome 12.1
9 optic atrophy plus syndrome 11.3
10 clpb deficiency 11.2
11 behr syndrome 11.1
12 optic atrophy 3 with cataract 11.1
13 mitochondrial dna depletion syndrome 4a 11.0
14 mitochondrial complex v deficiency, nuclear type 1 11.0
15 not otherwise specified 3-mga-uria type 10.9
16 cardiomyopathy 10.3
17 encephalopathy 10.2
18 cataract 10.2
19 dilated cardiomyopathy 10.1
20 neutropenia 10.1
21 pain disorder 10.1 SERAC1 TMEM70
22 leigh-like syndrome 10.0
23 leigh syndrome 10.0
24 pearson syndrome 10.0
25 metabolic acidosis 10.0
26 nephrocalcinosis 10.0
27 cerebritis 10.0
28 lactic acidosis 10.0
29 lrp5-related familial exudative vitreoretinopathy, autosomal dominant 10.0 AUH OPA3 SERAC1
30 myopathy, x-linked, with excessive autophagy 9.9 DNAJC19 TAZ
31 intellectual disability 9.9
32 cerebral palsy 9.9
33 microcephaly 9.9
34 reye syndrome 9.9
35 cervicitis 9.9
36 myotonic dystrophy 9.9
37 pearson marrow-pancreas syndrome 9.9
38 cardiofaciocutaneous syndrome 9.8 CLPB SERAC1 TAZ TMEM70
39 plasminogen deficiency, type i 9.8 AUH DNAJC19 OPA3 SERAC1 TMEM70
40 3-m syndrome 3 9.8 AUH DNAJC19 OPA3 SERAC1 TMEM70
41 acrocephalopolysyndactyly type iv 9.7 AUH DNAJC19 OPA3 SERAC1 TMEM70
42 growth hormone deficiency, isolated partial 9.6 AUH DNAJC19 OPA3 SERAC1 TAZ TMEM70
43 nephronophthisis 16 9.6 AUH DNAJC19 EHHADH MT-TL1 OPA3 SERAC1
44 glucocorticoid-induced osteoporosis 8.4 AUH CLPB DNAJC19 EHHADH HMGCR MCCC2

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, Skin, Myeloid, Pancreas, Cortex

Publications for 3-Methylglutaconic Aciduria

Articles related to 3-Methylglutaconic Aciduria:

(show top 50) (show all 87)
id Title Authors Year
1
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. ( 27696117 )
2017
2
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria. ( 27208207 )
2016
3
Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia. ( 26916670 )
2016
4
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. ( 27573165 )
2016
5
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. ( 25597510 )
2015
6
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. ( 25650066 )
2015
7
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. ( 25595726 )
2015
8
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
9
The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome. ( 25657044 )
2015
10
Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria. ( 24749080 )
2014
11
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect. ( 24757000 )
2014
12
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. ( 23355087 )
2013
13
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. ( 23296368 )
2013
14
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
15
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. ( 23707711 )
2013
16
Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes. ( 23382305 )
2013
17
POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. ( 22405928 )
2012
18
3-methylglutaconic aciduria type IV: a syndrome with an evolving phenotype. ( 21646875 )
2011
19
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
20
Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria. ( 21815885 )
2011
21
Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion. ( 21840233 )
2011
22
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. ( 20855850 )
2010
23
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. ( 20350831 )
2010
24
Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. ( 20728387 )
2010
25
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. ( 19015156 )
2009
26
Induction of oxidative stress by the metabolites accumulating in 3-methylglutaconic aciduria in cerebral cortex of young rats. ( 18261750 )
2008
27
3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome in 2 siblings. ( 17621487 )
2007
28
Myeloid dysplasia in familial 3-methylglutaconic aciduria. ( 16462576 )
2006
29
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. ( 16541463 )
2006
30
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. ( 16736096 )
2006
31
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
32
3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset. ( 17130438 )
2006
33
3-methylglutaconic aciduria disorders: the clinical spectrum increases. ( 16462574 )
2006
34
A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I. ( 16354225 )
2005
35
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. ( 15902555 )
2005
36
3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features. ( 15719488 )
2005
37
Fungal metabolic model for type I 3-methylglutaconic aciduria. ( 15181004 )
2004
38
Barth syndrome without 3-methylglutaconic aciduria. ( 15124852 )
2004
39
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
40
3-methylglutaconic aciduria type I in a boy with fever-associated seizures. ( 15033206 )
2004
41
Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria. ( 12750979 )
2003
42
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. ( 12655555 )
2003
43
3-methylglutaconic aciduria type I is caused by mutations in AUH. ( 12434311 )
2002
44
3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. ( 12126933 )
2002
45
Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. ( 11292221 )
2001
46
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
47
A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy. ( 11118804 )
2000
48
3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease. ( 10070612 )
1999
49
18Fluoro-2-deoxyglucose (18FDG) PET scan of the brain in type IV 3-methylglutaconic aciduria: clinical and MRI correlations. ( 10082249 )
1999
50
MRI in 3-methylglutaconic aciduria type 1. ( 10639672 )
1999

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 GRCh38 Chromosome 9, 91214427: 91214427
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

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 9.28 AUH CLPB DNAJC19 EHHADH MCCC2 OPA3

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 9.67 EHHADH HMGCR MVD SERAC1
2 steroid biosynthetic process GO:0006694 9.48 HMGCR MVD
3 fatty acid beta-oxidation GO:0006635 9.46 AUH EHHADH
4 cholesterol biosynthetic process GO:0006695 9.43 HMGCR MVD
5 regulation of cholesterol biosynthetic process GO:0045540 9.4 HMGCR MVD
6 sterol biosynthetic process GO:0016126 9.32 HMGCR MVD
7 branched-chain amino acid catabolic process GO:0009083 9.26 AUH MCCC2
8 isoprenoid biosynthetic process GO:0008299 9.16 HMGCR MVD
9 leucine catabolic process GO:0006552 8.96 AUH MCCC2
10 coenzyme A metabolic process GO:0015936 8.62 HMGCR 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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