MCID: 3MT007
MIFTS: 33

3-Methylglutaconic Aciduria malady

Genetic diseases, Metabolic diseases, Rare diseases, Cardiovascular diseases, Eye diseases categories

Aliases & Classifications for 3-Methylglutaconic Aciduria

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Aliases & Descriptions for 3-Methylglutaconic Aciduria:

Name: 3-Methylglutaconic Aciduria 10 12 24


Classifications:



External Ids:

Disease Ontology10 DOID:0060336

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 3-methylglutaconic aciduria, type i and 3-methylglutaconic aciduria, type iii. An important gene associated with 3-Methylglutaconic Aciduria is MT-TL1 (Mitochondrially Encoded TRNA Leucine 1 (UUA/G)). Affiliated tissues include brain, testes and myeloid.

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 36)
idRelated DiseaseScoreTop Affiliating Genes
13-methylglutaconic aciduria, type i31.3AUH, MT-TL1
23-methylglutaconic aciduria, type iii10.9
3barth syndrome10.8
43-methylglutaconic aciduria, type v10.7
53-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome10.7
63-methylglutaconic aciduria, type vii, with cataracts, neurologic involvement and neutropenia10.7
7megdel syndrome10.6
8cardiomyopathy10.6
9cataract10.5
10encephalopathy10.5
11dilated cardiomyopathy10.5
123 methylglutaconic aciduria type iv10.5
13leigh syndrome10.4
14optic atrophy plus syndrome10.4
15mitochondrial dna depletion syndrome 4a10.4
16mitochondrial complex v deficiency, nuclear type 110.4
17neutropenia10.4
18pearson syndrome10.4
19nephrocalcinosis10.4
20hypertrophic cardiomyopathy10.4
21metabolic acidosis10.4
22cerebritis10.4
23lactic acidosis10.4
24leigh-like syndrome10.4
25sengers syndrome10.2
26mitochondrial complex v deficiency, nuclear type 210.2
27mitochondrial complex iii deficiency, nuclear type 510.2
28optic atrophy 3 with cataract10.2
29cerebral palsy10.2
30reye syndrome10.2
31microcephaly10.2
32cervicitis10.2
33myotonic dystrophy10.2
34intellectual disability10.2
35leptin deficiency9.7AUH, OPA3, SERAC1
36tonsillar fossa cancer8.8AUH, 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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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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Genetic tests related to 3-Methylglutaconic Aciduria:

id Genetic test Affiliating Genes
1 3-Methylglutaconic Aciduria24

Anatomical Context for 3-Methylglutaconic Aciduria

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MalaCards organs/tissues related to 3-Methylglutaconic Aciduria:

33
Brain, Testes, Myeloid, Skin, Pancreas, Cortex, Eye

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 83)
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
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect. (24757000)
2014
5
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. (23296368)
2013
6
Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes. (23382305)
2013
7
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
8
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. (23707711)
2013
9
Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria. (21815885)
2011
10
3-methylglutaconic aciduria type IV: a syndrome with an evolving phenotype. (21646875)
2011
11
Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion. (21840233)
2011
12
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. (20350831)
2010
13
Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. (20728387)
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
3-Methylglutaconic aciduria presenting as Reye syndrome in a Chinese boy. (8598651)
1995
35
Dilated cardiomyopathy with 3-methylglutaconic aciduria. (7997421)
1994
36
Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acid. (7833193)
1994
37
Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria. (7691603)
1993
38
3-Methylglutaconic aciduria in a patient with Pearson syndrome. (8482296)
1993
39
3-Methylglutaconic aciduria in "optic atrophy plus". (8494328)
1993
40
OPA3-Related 3-Methylglutaconic Aciduria (20301646)
1993
41
Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria. (1287564)
1992
42
3-Methylglutaconic aciduria: a new variant. (1594352)
1992
43
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. (1447663)
1992
44
3-Methylglutaconic aciduria in a patient with a disturbed mitochondrial energy metabolism. (1499591)
1992
45
Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria. (1710267)
1991
46
3-Methylglutaconic aciduria with persistent metabolic acidosis and 'uncoupling episodes'. (2116558)
1990
47
3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal. (3197737)
1988
48
Episodes of severe metabolic acidosis in a patient with 3-methylglutaconic aciduria. (2445577)
1987
49
Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria. (3082934)
1986
50
3-Methylglutaconic aciduria in two infants. (6197209)
1983

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:00057397.1AUH, CLPB, DNAJC19, OPA3, SERAC1, TMEM70

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

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00076019.0DNAJC19, OPA3

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