MCID: 3MT007
MIFTS: 39

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 MT-TL1 (Mitochondrially Encoded TRNA Leucine 1 (UUA/G)), and among its related pathways are Mitochondrial protein import and Sterol Regulatory Element-Binding Proteins (SREBP) signalling. 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
3-Methylglutaconic Aciduria 8

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

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
13-methylglutaconic aciduria, type iii12.6
23-methylglutaconic aciduria, type i12.5
33-methylglutaconic aciduria, type iv12.5
43-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome12.5
53-methylglutaconic aciduria, type v12.5
63-methylglutaconic aciduria, type vii, with cataracts, neurologic involvement and neutropenia12.5
73-methylglutaconic aciduria 812.3
8barth syndrome12.1
9optic atrophy plus syndrome11.3
10clpb deficiency11.2
11behr syndrome11.1
12optic atrophy 3 with cataract11.1
13mitochondrial dna depletion syndrome 4a11.0
14mitochondrial complex v deficiency, nuclear type 111.0
15not otherwise specified 3-mga-uria type10.9
16cardiomyopathy10.3
17encephalopathy10.2
18cataract10.2
19dilated cardiomyopathy10.1
20neutropenia10.1
21pain disorder10.1SERAC1, TMEM70
22leigh syndrome10.0
23pearson syndrome10.0
24metabolic acidosis10.0
25nephrocalcinosis10.0
26cerebritis10.0
27lactic acidosis10.0
28leigh-like syndrome10.0
29lrp5-related familial exudative vitreoretinopathy, autosomal dominant10.0AUH, OPA3, SERAC1
30myopathy, x-linked, with excessive autophagy9.9DNAJC19, TAZ
31pearson marrow-pancreas syndrome9.9
32cerebral palsy9.9
33microcephaly9.9
34reye syndrome9.9
35cervicitis9.9
36myotonic dystrophy9.9
37intellectual disability9.9
38cardiofaciocutaneous syndrome9.8CLPB, SERAC1, TAZ, TMEM70
39plasminogen deficiency, type i9.8AUH, DNAJC19, OPA3, SERAC1, TMEM70
403-m syndrome 39.8AUH, DNAJC19, OPA3, SERAC1, TMEM70
41acrocephalopolysyndactyly type iv9.7AUH, DNAJC19, OPA3, SERAC1, TMEM70
42growth hormone deficiency, isolated partial9.6AUH, DNAJC19, OPA3, SERAC1, TAZ, TMEM70
43nephronophthisis 169.6AUH, DNAJC19, EHHADH, MT-TL1, OPA3, SERAC1
44glucocorticoid-induced osteoporosis8.4AUH, CLPB, DNAJC19, EHHADH, HMGCR, MCCC2

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
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria. (27208207)
2016
3
Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia. (26916670)
2016
4
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. (27573165)
2016
5
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. (25597510)
2015
6
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. (25650066)
2015
7
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. (25595726)
2015
8
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
9
The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome. (25657044)
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
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. (23355087)
2013
13
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. (23296368)
2013
14
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
15
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. (23707711)
2013
16
Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes. (23382305)
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
3-methylglutaconic aciduria type IV: a syndrome with an evolving phenotype. (21646875)
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
Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion. (21840233)
2011
22
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. (20855850)
2010
23
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. (20350831)
2010
24
Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. (20728387)
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
Myeloid dysplasia in familial 3-methylglutaconic aciduria. (16462576)
2006
29
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. (16541463)
2006
30
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. (16736096)
2006
31
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
32
3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset. (17130438)
2006
33
3-methylglutaconic aciduria disorders: the clinical spectrum increases. (16462574)
2006
34
A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I. (16354225)
2005
35
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. (15902555)
2005
36
3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features. (15719488)
2005
37
Fungal metabolic model for type I 3-methylglutaconic aciduria. (15181004)
2004
38
Barth syndrome without 3-methylglutaconic aciduria. (15124852)
2004
39
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
40
3-methylglutaconic aciduria type I in a boy with fever-associated seizures. (15033206)
2004
41
Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria. (12750979)
2003
42
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. (12655555)
2003
43
3-methylglutaconic aciduria type I is caused by mutations in AUH. (12434311)
2002
44
3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. (12126933)
2002
45
Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. (11292221)
2001
46
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
47
A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy. (11118804)
2000
48
3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease. (10070612)
1999
49
18Fluoro-2-deoxyglucose (18FDG) PET scan of the brain in type IV 3-methylglutaconic aciduria: clinical and MRI correlations. (10082249)
1999
50
MRI in 3-methylglutaconic aciduria type 1. (10639672)
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
1MT-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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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:00057396.6AUH, CLPB, DNAJC19, EHHADH, MCCC2, OPA3

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1fatty acid beta-oxidationGO:000663510.3AUH, EHHADH
2branched-chain amino acid catabolic processGO:000908310.0AUH, MCCC2
3leucine catabolic processGO:000655210.0AUH, MCCC2
4cholesterol biosynthetic processGO:000669510.0HMGCR, MVD
5isoprenoid biosynthetic processGO:000829910.0HMGCR, MVD
6regulation of cholesterol biosynthetic processGO:00455409.8HMGCR, MVD
7steroid biosynthetic processGO:00066949.7HMGCR, MVD
8coenzyme A metabolic processGO:00159369.7HMGCR, MCCC2
9sterol biosynthetic processGO:00161269.3HMGCR, MVD
10lipid metabolic processGO:00066299.1EHHADH, HMGCR, MVD, SERAC1

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

idNameGO IDScoreTop Affiliating Genes
1enoyl-CoA hydratase activityGO:000430010.2AUH, EHHADH
2lyase activityGO:00168299.1AUH, EHHADH, MVD

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