MCID: 3MT007
MIFTS: 38

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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Disease Ontology:11 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 are Mitochondrial protein import and Valine, leucine and isoleucine degradation. Affiliated tissues include brain, myeloid and testes.

Wikipedia:70 3-Methylglutaconic aciduria (MGA) is used to describe at least five disorders that impair the body\'s... more...

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 40)
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 syndrome12.5
43-methylglutaconic aciduria, type v12.5
53-methylglutaconic aciduria, type vii, with cataracts, neurologic involvement and neutropenia12.4
6barth syndrome12.1
73-@methylglutaconic aciduria, type iv11.9
8optic atrophy plus syndrome11.3
9behr syndrome11.1
10optic atrophy 3 with cataract11.1
11mitochondrial dna depletion syndrome 4a11.0
12mitochondrial complex v deficiency, nuclear type 111.0
13not otherwise specified 3-mga-uria type10.9
14cardiomyopathy10.3
15encephalopathy10.2
16cataract10.2
17myopathy, x-linked, with excessive autophagy10.1DNAJC19, TAZ
18dilated cardiomyopathy10.1
19neutropenia10.1
20lfng-related spondylocostal dysostosis, autosomal recessive10.0AUH, OPA3, SERAC1
21leigh syndrome10.0
22pearson syndrome10.0
23metabolic acidosis10.0
24nephrocalcinosis10.0
25cerebritis10.0
26lactic acidosis10.0
27leigh-like syndrome10.0
28body dysmorphic disorder9.9AUH, SERAC1, TMEM70
29leigh syndrome with leukodystrophy9.9ATPAF2, TMEM70
30pearson marrow-pancreas syndrome9.9
31cerebral palsy9.9
32microcephaly9.9
33reye syndrome9.9
34cervicitis9.9
35myotonic dystrophy9.9
36intellectual disability9.9
37cataract 38, autosomal recessive9.8CLPB, SERAC1, TAZ, TMEM70
38le marec bracq picaud syndrome9.7ATPAF2, TMEM70
39bone marrow failure syndrome 29.4AUH, EHHADH, MT-TL1
40ciliopathy7.9AUH, 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 Aciduria26

Anatomical Context for 3-Methylglutaconic Aciduria

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MalaCards organs/tissues related to 3-Methylglutaconic Aciduria:

35
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 87)
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
1AUHNM_001698.2(AUH): c.559G> A (p.Gly187Ser)SNVPathogenicrs387906755GRCh37Chr 9, 94060305: 94060305
2AUHNM_001698.2(AUH): c.650G> A (p.Gly217Asp)SNVPathogenicrs387906756GRCh37Chr 9, 94058308: 94058308
3AUHNM_001698.2(AUH): c.991A> T (p.Lys331Ter)SNVPathogenicrs387906757GRCh37Chr 9, 93976659: 93976659
4AUHNM_001698.2(AUH): c.589C> T (p.Arg197Ter)SNVPathogenicrs121434636GRCh37Chr 9, 94060275: 94060275
5AUHNM_001698.2(AUH): c.895-1G> ASNVPathogenicrs730880309GRCh37Chr 9, 93978389: 93978389
6AUHNM_001698.2(AUH): c.80delG (p.Ser27Metfs)deletionPathogenicrs730880310GRCh37Chr 9, 94124092: 94124092
7AUHNM_001698.2(AUH): c.263-2A> GSNVPathogenicrs730880311GRCh37Chr 9, 94118439: 94118439
8AUHNM_001698.2(AUH): c.943-2A> GSNVPathogenicrs730880312GRCh38Chr 9, 91214427: 91214427
9MT-TL1m.3243A> GSNVPathogenicrs199474657GRCh37Chr 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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Pathways related to 3-Methylglutaconic Aciduria according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.7DNAJC19, TAZ
2
Show member pathways
9.1AUH, EHHADH, MCCC2

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:00057396.5ATPAF2, AUH, CLPB, DNAJC19, EHHADH, MCCC2

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

idNameGO IDScoreTop Affiliating Genes
1leucine catabolic processGO:000655210.0AUH, MCCC2
2branched-chain amino acid catabolic processGO:00090839.7AUH, MCCC2
3fatty acid beta-oxidationGO:00066359.5AUH, EHHADH
4isoprenoid biosynthetic processGO:00082999.5HMGCR, MVD
5coenzyme A metabolic processGO:00159369.4HMGCR, MCCC2
6cholesterol biosynthetic processGO:00066958.9HMGCR, MVD

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

idNameGO IDScoreTop Affiliating Genes
1enoyl-CoA hydratase activityGO:00043009.6AUH, EHHADH

Sources for 3-Methylglutaconic Aciduria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet