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: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

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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 & Phenotypes 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 Aciduria27

Anatomical Context for 3-Methylglutaconic Aciduria

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MalaCards organs/tissues related to 3-Methylglutaconic Aciduria:

36
Brain, Myeloid, Testes, Pancreas, Cortex, Skin

Publications for 3-Methylglutaconic Aciduria

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Articles related to 3-Methylglutaconic Aciduria:

(show top 50)    (show all 87)
idTitleAuthorsYear
1
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. (27696117)
2017
2
Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia. (26916670)
2016
3
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. (27573165)
2016
4
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria. (27208207)
2016
5
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. (25650066)
2015
6
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
7
The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome. (25657044)
2015
8
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. (25597510)
2015
9
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. (25595726)
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
Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes. (23382305)
2013
13
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
14
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. (23707711)
2013
15
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. (23296368)
2013
16
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. (23355087)
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
Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion. (21840233)
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
3-methylglutaconic aciduria type IV: a syndrome with an evolving phenotype. (21646875)
2011
22
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. (20350831)
2010
23
Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. (20728387)
2010
24
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. (20855850)
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
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. (16541463)
2006
29
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. (16736096)
2006
30
3-methylglutaconic aciduria disorders: the clinical spectrum increases. (16462574)
2006
31
Myeloid dysplasia in familial 3-methylglutaconic aciduria. (16462576)
2006
32
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
33
3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset. (17130438)
2006
34
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. (15902555)
2005
35
A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I. (16354225)
2005
36
3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features. (15719488)
2005
37
Barth syndrome without 3-methylglutaconic aciduria. (15124852)
2004
38
3-methylglutaconic aciduria type I in a boy with fever-associated seizures. (15033206)
2004
39
Fungal metabolic model for type I 3-methylglutaconic aciduria. (15181004)
2004
40
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
41
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. (12655555)
2003
42
Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria. (12750979)
2003
43
3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. (12126933)
2002
44
3-methylglutaconic aciduria type I is caused by mutations in AUH. (12434311)
2002
45
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
46
Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. (11292221)
2001
47
A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy. (11118804)
2000
48
3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease. (10399091)
1999
49
MRI in 3-methylglutaconic aciduria type 1. (10639672)
1999
50
18Fluoro-2-deoxyglucose (18FDG) PET scan of the brain in type IV 3-methylglutaconic aciduria: clinical and MRI correlations. (10082249)
1999

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
1branched-chain amino acid catabolic processGO:000908310.2AUH, MCCC2
2fatty acid beta-oxidationGO:00066359.9AUH, EHHADH
3leucine catabolic processGO:00065529.7AUH, MCCC2
4cholesterol biosynthetic processGO:00066959.7HMGCR, MVD
5coenzyme A metabolic processGO:00159369.6HMGCR, MCCC2
6isoprenoid biosynthetic processGO:00082999.3HMGCR, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet