MCID: 3MT007
MIFTS: 30

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:68 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 leigh syndrome and 3-methylglutaconic aciduria, type iii, and has symptoms including cerebellar ataxiaand athetosis. An important gene associated with 3-Methylglutaconic Aciduria is MT-TL1 (Mitochondrially Encoded TRNA Leucine 1 (UUA/G)). Affiliated tissues include myeloid, endothelial and bone.

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

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

(show all 35)
idRelated DiseaseScoreTop Affiliating Genes
1leigh syndrome30.0MT-TL1, SERAC1
23-methylglutaconic aciduria, type iii12.6
33-methylglutaconic aciduria, type i12.5
43-methylglutaconic aciduria, type vii, with cataracts, neurologic involvement and neutropenia12.4
53-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome12.4
63-methylglutaconic aciduria, type v12.3
7barth syndrome12.0
8megdel syndrome12.0
9dcma syndrome11.5
10optic atrophy plus syndrome11.4
11not otherwise specified 3-mga-uria type11.3
12optic atrophy 3 with cataract11.2
13cardiomyopathy10.4
14cataract10.3
15encephalopathy10.3
16dilated cardiomyopathy10.2
17neutropenia10.2
18pearson syndrome10.1
19metabolic acidosis10.1
20hypertrophic cardiomyopathy10.1
21nephrocalcinosis10.1
22cerebritis10.1
23lactic acidosis10.1
24leigh-like syndrome10.1
25mitochondrial dna depletion syndrome 4a10.1
26mitochondrial complex v deficiency, nuclear type 110.1
27cerebral palsy10.0
28microcephaly10.0
29reye syndrome10.0
30cervicitis10.0
31myotonic dystrophy10.0
32intellectual disability10.0
33bone marrow failure syndrome 29.6AUH, MT-TL1
34leptin deficiency9.4AUH, OPA3, SERAC1
35parameningeal embryonal rhabdomyosarcoma7.3AUH, CLPB, DNAJC19, MT-TL1, OPA3, SERAC1

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:


cerebellar ataxia, athetosis

Drugs & Therapeutics for 3-Methylglutaconic Aciduria

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for 3-Methylglutaconic Aciduria

Genetic Tests for 3-Methylglutaconic Aciduria

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Anatomical Context for 3-Methylglutaconic Aciduria

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MalaCards organs/tissues related to 3-Methylglutaconic Aciduria:

33
Myeloid, Endothelial, Bone, Prostate, Kidney, Thyroid, 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
Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia. (26916670)
2016
2
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. (25650066)
2015
3
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
4
The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome. (25657044)
2015
5
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect. (24757000)
2014
6
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. (23296368)
2013
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
Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria. (21815885)
2011
11
3-methylglutaconic aciduria type IV: a syndrome with an evolving phenotype. (21646875)
2011
12
Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion. (21840233)
2011
13
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. (20350831)
2010
14
Induction of oxidative stress by the metabolites accumulating in 3-methylglutaconic aciduria in cerebral cortex of young rats. (18261750)
2008
15
Myeloid dysplasia in familial 3-methylglutaconic aciduria. (16462576)
2006
16
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. (16541463)
2006
17
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
18
A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I. (16354225)
2005
19
3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features. (15719488)
2005
20
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. (15902555)
2005
21
Barth syndrome without 3-methylglutaconic aciduria. (15124852)
2004
22
3-methylglutaconic aciduria type I in a boy with fever-associated seizures. (15033206)
2004
23
Fungal metabolic model for type I 3-methylglutaconic aciduria. (15181004)
2004
24
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
25
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. (12655555)
2003
26
Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria. (12750979)
2003
27
3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. (12126933)
2002
28
Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. (11292221)
2001
29
A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy. (11118804)
2000
30
18Fluoro-2-deoxyglucose (18FDG) PET scan of the brain in type IV 3-methylglutaconic aciduria: clinical and MRI correlations. (10082249)
1999
31
3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease. (10399091)
1999
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
Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria. (7691603)
1993
37
3-Methylglutaconic aciduria in a patient with Pearson syndrome. (8482296)
1993
38
3-Methylglutaconic aciduria in "optic atrophy plus". (8494328)
1993
39
OPA3-Related 3-Methylglutaconic Aciduria (20301646)
1993
40
Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria. (1287564)
1992
41
3-Methylglutaconic aciduria: a new variant. (1594352)
1992
42
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. (1447663)
1992
43
3-Methylglutaconic aciduria in a patient with a disturbed mitochondrial energy metabolism. (1499591)
1992
44
Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria. (1710267)
1991
45
3-Methylglutaconic aciduria with persistent metabolic acidosis and 'uncoupling episodes'. (2116558)
1990
46
3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal. (3197737)
1988
47
Episodes of severe metabolic acidosis in a patient with 3-methylglutaconic aciduria. (2445577)
1987
48
Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria. (3082934)
1986
49
3-Methylglutaconic aciduria in two infants. (6197209)
1983
50

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
1mitochondrionGO:00057399.1DNAJC19, TMEM70

Sources for 3-Methylglutaconic Aciduria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet