MCID: 3MT007
MIFTS: 37

3-Methylglutaconic Aciduria malady

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

Aliases & Classifications for 3-Methylglutaconic Aciduria

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Summaries for 3-Methylglutaconic Aciduria

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Wikipedia:69 3-Methylglutaconic aciduria (MGA) is used to describe at least five disorders that impair the body\'s... more...

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 are Valine, leucine and isoleucine degradation and Mitochondrial protein import. Affiliated tissues include brain, myeloid and testes.

Related Diseases for 3-Methylglutaconic Aciduria

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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

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
13-methylglutaconic aciduria, type iii12.6
23-methylglutaconic aciduria, type i12.5
33-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome12.4
43-methylglutaconic aciduria, type vii, with cataracts, neurologic involvement and neutropenia12.4
53-methylglutaconic aciduria, type v12.4
6barth syndrome12.0
7megdel syndrome11.9
83-@methylglutaconic aciduria, type iv11.6
9dcma syndrome11.4
10optic atrophy plus syndrome11.4
11optic atrophy 3 with cataract11.2
12not otherwise specified 3-mga-uria type11.1
13cardiomyopathy10.4
14encephalopathy10.3
15cataract10.3
16behr syndrome10.2
17dilated cardiomyopathy10.2
18neutropenia10.2
19leigh syndrome10.1
20pearson syndrome10.1
21metabolic acidosis10.1
22hypertrophic cardiomyopathy10.1
23nephrocalcinosis10.1
24cerebritis10.1
25lactic acidosis10.1
26leigh-like syndrome10.1
27mitochondrial dna depletion syndrome 4a10.1
28mitochondrial complex v deficiency, nuclear type 110.1
29pearson marrow-pancreas syndrome10.0
30cerebral palsy10.0
31microcephaly10.0
32reye syndrome10.0
33cervicitis10.0
34myotonic dystrophy10.0
35intellectual disability10.0
36niemann-pick disease9.9CLPB, TAZ
37bone marrow failure syndrome 29.9AUH, MT-TL1
38lfng-related spondylocostal dysostosis, autosomal recessive9.8AUH, OPA3, SERAC1
39body dysmorphic disorder9.6AUH, SERAC1, TMEM70
40myopathy, x-linked, with excessive autophagy9.5DNAJC19, TAZ
41cataract 38, autosomal recessive9.2CLPB, SERAC1, TAZ, TMEM70
42ciliopathy6.7AUH, CLPB, DNAJC19, MCCC2, MT-TL1, OPA3

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



Diseases related to 3-methylglutaconic aciduria

Symptoms for 3-Methylglutaconic Aciduria

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UMLS symptoms related to 3-Methylglutaconic Aciduria:


athetosis, cerebellar ataxia

Drugs & Therapeutics for 3-Methylglutaconic Aciduria

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for 3-Methylglutaconic Aciduria


Cochrane evidence based reviews: 3-methylglutaconic aciduria

Genetic Tests for 3-Methylglutaconic Aciduria

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Genetic tests related to 3-Methylglutaconic Aciduria:

id Genetic test Affiliating Genes
1 3-Methylglutaconic Aciduria25

Anatomical Context for 3-Methylglutaconic Aciduria

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MalaCards organs/tissues related to 3-Methylglutaconic Aciduria:

34
Brain, Myeloid, Testes, Pancreas, Cortex, Skin

Animal Models for 3-Methylglutaconic Aciduria or affiliated genes

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Publications for 3-Methylglutaconic Aciduria

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Articles related to 3-Methylglutaconic Aciduria:

(show top 50)    (show all 86)
idTitleAuthorsYear
1
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. (25650066)
2015
2
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
3
The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome. (25657044)
2015
4
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. (25597510)
2015
5
Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria. (24749080)
2014
6
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect. (24757000)
2014
7
Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes. (23382305)
2013
8
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
9
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. (23707711)
2013
10
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. (23296368)
2013
11
Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion. (21840233)
2011
12
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
13
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. (20350831)
2010
14
Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. (20728387)
2010
15
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. (19015156)
2009
16
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. (16541463)
2006
17
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. (16736096)
2006
18
3-methylglutaconic aciduria disorders: the clinical spectrum increases. (16462574)
2006
19
Myeloid dysplasia in familial 3-methylglutaconic aciduria. (16462576)
2006
20
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. (15902555)
2005
21
Barth syndrome without 3-methylglutaconic aciduria. (15124852)
2004
22
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. (12655555)
2003
23
Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria. (12750979)
2003
24
3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. (12126933)
2002
25
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
26
A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy. (11118804)
2000
27
3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease. (10399091)
1999
28
MRI in 3-methylglutaconic aciduria type 1. (10639672)
1999
29
18Fluoro-2-deoxyglucose (18FDG) PET scan of the brain in type IV 3-methylglutaconic aciduria: clinical and MRI correlations. (10082249)
1999
30
3-Methylglutaconic aciduria in pregnancy. (9074583)
1997
31
Prenatal clinical expression of 3-methylglutaconic aciduria: Barth syndrome. (9358581)
1997
32
Maternal 3-methylglutaconic aciduria associated with abnormalities in offspring. (8826820)
1996
33
3-Methylglutaconic aciduria, type 3. (7573769)
1995
34
Dilated cardiomyopathy with 3-methylglutaconic aciduria. (7997421)
1994
35
Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acid. (7833193)
1994
36
3-Methylglutaconic aciduria: ten new cases with a possible new phenotype. (7726378)
1994
37
3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome. (7510656)
1994
38
Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria. (7691603)
1993
39
3-Methylglutaconic aciduria in "optic atrophy plus". (8494328)
1993
40
OPA3-Related 3-Methylglutaconic Aciduria (20301646)
1993
41
3-Methylglutaconic aciduria in a patient with Pearson syndrome. (8482296)
1993
42
3-Methylglutaconic aciduria: a new variant. (1594352)
1992
43
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. (1447663)
1992
44
Behr's syndrome and 3-methylglutaconic aciduria. (1384336)
1992
45
Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria. (1287564)
1992
46
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. (1719174)
1991
47
Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria. (1710267)
1991
48
3-Methylglutaconic aciduria with persistent metabolic acidosis and 'uncoupling episodes'. (2116558)
1990
49
Inherited 3-methylglutaconic aciduria in two brothers--another defect of leucine metabolism. (6181239)
1982
50
3-Hydroxy-3-methylglutaric aciduria, combined with 3-methylglutaconic aciduria. (947633)
1976

Variations for 3-Methylglutaconic Aciduria

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Clinvar genetic disease variations for 3-Methylglutaconic Aciduria:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MT-TL1m.3243A> Gsingle nucleotide variantPathogenicrs199474657GRCh37Chr MT, 3243: 3243

Expression for genes affiliated with 3-Methylglutaconic Aciduria

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

Pathways for genes affiliated with 3-Methylglutaconic Aciduria

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GO Terms for genes affiliated with 3-Methylglutaconic Aciduria

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:00057438.4DNAJC19, TAZ, TMEM70
2mitochondrionGO:00057396.4AUH, CLPB, DNAJC19, MCCC2, OPA3, SERAC1

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

idNameGO IDScoreTop Affiliating Genes
1leucine catabolic processGO:00065529.8AUH, MCCC2
2branched-chain amino acid catabolic processGO:00090839.6AUH, MCCC2

Sources for 3-Methylglutaconic Aciduria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet