MCID: 3MT007
MIFTS: 37

3-Methylglutaconic Aciduria

Categories: Metabolic diseases, Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases, Cardiovascular diseases

Aliases & Classifications for 3-Methylglutaconic Aciduria

MalaCards integrated aliases for 3-Methylglutaconic Aciduria:

Name: 3-Methylglutaconic Aciduria 12 37 29 6 44 15 40 73
3-Methyl Glutaconic Aciduria 76

Classifications:



External Ids:

Disease Ontology 12 DOID:0060336
ICD10 33 E71.111
MeSH 44 C579867
KEGG 37 H00754
UMLS 73 C3696376

Summaries for 3-Methylglutaconic Aciduria

Disease Ontology : 12 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, also known as 3-methyl glutaconic aciduria, is related to 3-methylglutaconic aciduria, type viii and barth syndrome, 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/superpathways are Valine, leucine and isoleucine degradation and Mitochondrial protein import. Affiliated tissues include brain, myeloid and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 76 3-Methylglutaconic aciduria (MGA) is any of at least five metabolic disorders that impair the body\'s... more...

Related Diseases for 3-Methylglutaconic Aciduria

Diseases in the 3-Methylglutaconic Aciduria family:

3-Methylglutaconic Aciduria, Type I 3-Methylglutaconic Aciduria, Type Iv
3-Methylglutaconic Aciduria, Type Iii 3-Methylglutaconic Aciduria, Type V
3-Methylglutaconic Aciduria, Type Viii 3-Methylglutaconic Aciduria, Type Ix

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

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type viii 33.9 AUP1 HTRA2 LOXL3
2 barth syndrome 33.6 DNAJC19 TAZ
3 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 33.5 AUH DNAJC19 OPA3 SERAC1 TMEM70
4 3-methylglutaconic aciduria, type iii 33.4 AUH DNAJC19 OPA3 SERAC1 TMEM70
5 3-methylglutaconic aciduria, type iv 33.3 AUH DNAJC19 OPA3 SERAC1 TMEM70
6 3-methylglutaconic aciduria, type v 32.9 AUH DNAJC19 OPA3 SERAC1 TAZ TMEM70
7 3-methylglutaconic aciduria, type i 32.4 AUH DNAJC19 MT-TL1 OPA3 TMEM70
8 mitochondrial complex v deficiency 29.9 ATPAF2 TMEM70
9 leigh syndrome 28.5 MT-ND1 MT-ND2 MT-TL1 SERAC1
10 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 12.6
11 3-methylglutaconic aciduria, type ix 12.5
12 not otherwise specified 3-mga-uria type 11.9
13 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 11.4
14 clpb deficiency 11.4
15 behr syndrome 11.2
16 optic atrophy 3, autosomal dominant 11.2
17 mitochondrial dna depletion syndrome 4a 11.1
18 mitochondrial complex v deficiency, nuclear type 1 11.1
19 human monocytic ehrlichiosis 10.6 CLPB DNASE1L1
20 type i 10.5
21 endocardial fibroelastosis 10.4 DNASE1L1 TAZ
22 encephalopathy 10.3
23 cataract 10.3
24 alzheimer disease mitochondrial 10.2 MT-ND1 MT-ND2
25 dilated cardiomyopathy 10.2
26 neutropenia 10.2
27 metabolic acidosis 10.1
28 hypertrophic cardiomyopathy 10.1
29 nephrocalcinosis 10.1
30 cerebritis 10.1
31 lactic acidosis 10.1
32 isolated atp synthase deficiency 10.0 ATPAF2 TMEM70
33 deafness, nonsyndromic sensorineural, mitochondrial 10.0 MT-ND1 MT-ND2
34 organic acidemia 10.0 SERAC1 TMEM70
35 leber optic atrophy 10.0 MT-ND1 MT-ND2
36 left ventricular noncompaction 10.0 DNASE1L1 MT-ND1 TAZ
37 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 10.0
38 cardiomyopathy, dilated, 3b 10.0
39 pearson marrow-pancreas syndrome 10.0
40 alacrima, achalasia, and mental retardation syndrome 10.0
41 polyglucosan body myopathy 1 with or without immunodeficiency 10.0
42 cerebral palsy 10.0
43 microcephaly 10.0
44 reye syndrome 10.0
45 cervicitis 10.0
46 cystic kidney disease 10.0
47 movement disease 10.0
48 myotonic dystrophy 10.0
49 myotonia atrophica 10.0
50 cranial nerve disease 9.8 MT-ND1 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

UMLS symptoms related to 3-Methylglutaconic Aciduria:


athetosis, cerebellar ataxia

GenomeRNAi Phenotypes related to 3-Methylglutaconic Aciduria according to GeneCards Suite gene sharing:

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.68 ATPAF2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.68 TIMM50
3 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.68 LOXL3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.68 ATPAF2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.68 TIMM50
6 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.68 LOXL3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.68 LOXL3 TIMM50 ATPAF2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.68 ATPAF2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.68 LOXL3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.68 TIMM50
11 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.68 LOXL3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.68 TIMM50
13 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.68 ATPAF2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.68 LOXL3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.68 LOXL3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.68 ATPAF2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.68 ATPAF2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.68 ATPAF2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.68 LOXL3
20 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.68 TIMM50
21 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.68 TIMM50

Drugs & Therapeutics for 3-Methylglutaconic Aciduria

Search Clinical Trials , NIH Clinical Center for 3-Methylglutaconic Aciduria

Cochrane evidence based reviews: 3-methylglutaconic aciduria

Genetic Tests for 3-Methylglutaconic Aciduria

Genetic tests related to 3-Methylglutaconic Aciduria:

# Genetic test Affiliating Genes
1 3-Methylglutaconic Aciduria 29 AUH

Anatomical Context for 3-Methylglutaconic Aciduria

MalaCards organs/tissues related to 3-Methylglutaconic Aciduria:

41
Brain, Myeloid, Testes, Pancreas, Cortex, Skin

Publications for 3-Methylglutaconic Aciduria

Articles related to 3-Methylglutaconic Aciduria:

(show top 50) (show all 91)
# Title Authors Year
1
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. ( 28526534 )
2017
2
Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review. ( 28438368 )
2017
3
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. ( 27696117 )
2017
4
Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up. ( 28755360 )
2017
5
Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia. ( 26916670 )
2016
6
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. ( 27573165 )
2016
7
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria. ( 27208207 )
2016
8
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. ( 25650066 )
2015
9
The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome. ( 25657044 )
2015
10
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. ( 25595726 )
2015
11
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
12
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. ( 25597510 )
2015
13
Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria. ( 24749080 )
2014
14
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect. ( 24757000 )
2014
15
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
16
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. ( 23707711 )
2013
17
Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes. ( 23382305 )
2013
18
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. ( 23296368 )
2013
19
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. ( 23355087 )
2013
20
POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. ( 22405928 )
2012
21
Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria. ( 21815885 )
2011
22
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
23
Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion. ( 21840233 )
2011
24
3-methylglutaconic aciduria type IV: a syndrome with an evolving phenotype. ( 21646875 )
2011
25
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. ( 20350831 )
2010
26
Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. ( 20728387 )
2010
27
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. ( 20855850 )
2010
28
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. ( 19015156 )
2009
29
Induction of oxidative stress by the metabolites accumulating in 3-methylglutaconic aciduria in cerebral cortex of young rats. ( 18261750 )
2008
30
3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome in 2 siblings. ( 17621487 )
2007
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
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. ( 16541463 )
2006
33
3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset. ( 17130438 )
2006
34
Myeloid dysplasia in familial 3-methylglutaconic aciduria. ( 16462576 )
2006
35
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. ( 16736096 )
2006
36
3-methylglutaconic aciduria disorders: the clinical spectrum increases. ( 16462574 )
2006
37
A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I. ( 16354225 )
2005
38
3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features. ( 15719488 )
2005
39
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. ( 15902555 )
2005
40
Barth syndrome without 3-methylglutaconic aciduria. ( 15124852 )
2004
41
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
42
3-methylglutaconic aciduria type I in a boy with fever-associated seizures. ( 15033206 )
2004
43
Fungal metabolic model for type I 3-methylglutaconic aciduria. ( 15181004 )
2004
44
Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria. ( 12750979 )
2003
45
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. ( 12655555 )
2003
46
3-methylglutaconic aciduria type I is caused by mutations in AUH. ( 12434311 )
2002
47
3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. ( 12126933 )
2002
48
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
49
Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. ( 11292221 )
2001
50
A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy. ( 11118804 )
2000

Variations for 3-Methylglutaconic Aciduria

ClinVar genetic disease variations for 3-Methylglutaconic Aciduria:

6
(show top 50) (show all 52)
# Gene Variation Type Significance SNP ID Assembly Location
1 AUH NM_001698.2(AUH): c.589C> T (p.Arg197Ter) single nucleotide variant Pathogenic rs121434636 GRCh37 Chromosome 9, 94060275: 94060275
2 AUH NM_001698.2(AUH): c.589C> T (p.Arg197Ter) single nucleotide variant Pathogenic rs121434636 GRCh38 Chromosome 9, 91297993: 91297993
3 AUH NM_001698.2(AUH): c.895-1G> A single nucleotide variant Pathogenic rs730880309 GRCh37 Chromosome 9, 93978389: 93978389
4 AUH NM_001698.2(AUH): c.895-1G> A single nucleotide variant Pathogenic rs730880309 GRCh38 Chromosome 9, 91216107: 91216107
5 AUH NM_001698.2(AUH): c.80delG (p.Ser27Metfs) deletion Pathogenic rs730880310 GRCh37 Chromosome 9, 94124092: 94124092
6 AUH NM_001698.2(AUH): c.80delG (p.Ser27Metfs) deletion Pathogenic rs730880310 GRCh38 Chromosome 9, 91361810: 91361810
7 AUH NM_001698.2(AUH): c.263-2A> G single nucleotide variant Pathogenic rs730880311 GRCh37 Chromosome 9, 94118439: 94118439
8 AUH NM_001698.2(AUH): c.263-2A> G single nucleotide variant Pathogenic rs730880311 GRCh38 Chromosome 9, 91356157: 91356157
9 AUH NM_001698.2(AUH): c.943-2A> G single nucleotide variant Pathogenic rs730880312 GRCh38 Chromosome 9, 91214427: 91214427
10 AUH NM_001698.2(AUH): c.943-2A> G single nucleotide variant Pathogenic rs730880312 GRCh37 Chromosome 9, 93976709: 93976709
11 MT-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
12 MT-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh38 Chromosome MT, 3243: 3243
13 AUH NM_001698.2(AUH): c.559G> A (p.Gly187Ser) single nucleotide variant Pathogenic rs387906755 GRCh37 Chromosome 9, 94060305: 94060305
14 AUH NM_001698.2(AUH): c.559G> A (p.Gly187Ser) single nucleotide variant Pathogenic rs387906755 GRCh38 Chromosome 9, 91298023: 91298023
15 AUH NM_001698.2(AUH): c.650G> A (p.Gly217Asp) single nucleotide variant Pathogenic rs387906756 GRCh37 Chromosome 9, 94058308: 94058308
16 AUH NM_001698.2(AUH): c.650G> A (p.Gly217Asp) single nucleotide variant Pathogenic rs387906756 GRCh38 Chromosome 9, 91296026: 91296026
17 AUH NM_001698.2(AUH): c.373C> T (p.Arg125Trp) single nucleotide variant Likely pathogenic rs200030276 GRCh37 Chromosome 9, 94118210: 94118210
18 AUH NM_001698.2(AUH): c.373C> T (p.Arg125Trp) single nucleotide variant Likely pathogenic rs200030276 GRCh38 Chromosome 9, 91355928: 91355928
19 AUH NM_001698.2(AUH): c.598+10A> C single nucleotide variant Conflicting interpretations of pathogenicity rs186203318 GRCh38 Chromosome 9, 91297974: 91297974
20 AUH NM_001698.2(AUH): c.598+10A> C single nucleotide variant Conflicting interpretations of pathogenicity rs186203318 GRCh37 Chromosome 9, 94060256: 94060256
21 AUH NM_001698.2(AUH): c.381A> G (p.Ile127Met) single nucleotide variant Uncertain significance rs146227896 GRCh38 Chromosome 9, 91355920: 91355920
22 AUH NM_001698.2(AUH): c.381A> G (p.Ile127Met) single nucleotide variant Uncertain significance rs146227896 GRCh37 Chromosome 9, 94118202: 94118202
23 AUH NM_001698.2(AUH): c.182C> A (p.Pro61His) single nucleotide variant Conflicting interpretations of pathogenicity rs181327211 GRCh37 Chromosome 9, 94123990: 94123990
24 AUH NM_001698.2(AUH): c.182C> A (p.Pro61His) single nucleotide variant Conflicting interpretations of pathogenicity rs181327211 GRCh38 Chromosome 9, 91361708: 91361708
25 AUH NM_001698.2(AUH): c.331-6G> A single nucleotide variant Likely benign rs10991898 GRCh37 Chromosome 9, 94118258: 94118258
26 AUH NM_001698.2(AUH): c.331-6G> A single nucleotide variant Likely benign rs10991898 GRCh38 Chromosome 9, 91355976: 91355976
27 AUH NM_001698.2(AUH): c.84G> T (p.Ala28=) single nucleotide variant Uncertain significance rs1057515676 GRCh37 Chromosome 9, 94124088: 94124088
28 AUH NM_001698.2(AUH): c.84G> T (p.Ala28=) single nucleotide variant Uncertain significance rs1057515676 GRCh38 Chromosome 9, 91361806: 91361806
29 AUH NM_001698.2(AUH): c.*107A> G single nucleotide variant Likely benign rs75505223 GRCh37 Chromosome 9, 93976523: 93976523
30 AUH NM_001698.2(AUH): c.*107A> G single nucleotide variant Likely benign rs75505223 GRCh38 Chromosome 9, 91214241: 91214241
31 AUH NM_001698.2(AUH): c.*29G> A single nucleotide variant Uncertain significance rs200499826 GRCh37 Chromosome 9, 93976601: 93976601
32 AUH NM_001698.2(AUH): c.*29G> A single nucleotide variant Uncertain significance rs200499826 GRCh38 Chromosome 9, 91214319: 91214319
33 AUH NM_001698.2(AUH): c.*432C> T single nucleotide variant Uncertain significance rs746233646 GRCh38 Chromosome 9, 91213916: 91213916
34 AUH NM_001698.2(AUH): c.*432C> T single nucleotide variant Uncertain significance rs746233646 GRCh37 Chromosome 9, 93976198: 93976198
35 AUH NM_001698.2(AUH): c.*218_*219delAG deletion Uncertain significance rs1057515675 GRCh37 Chromosome 9, 93976411: 93976412
36 AUH NM_001698.2(AUH): c.*218_*219delAG deletion Uncertain significance rs1057515675 GRCh38 Chromosome 9, 91214129: 91214130
37 AUH NM_001698.2(AUH): c.951A> T (p.Pro317=) single nucleotide variant Conflicting interpretations of pathogenicity rs530710210 GRCh37 Chromosome 9, 93976699: 93976699
38 AUH NM_001698.2(AUH): c.951A> T (p.Pro317=) single nucleotide variant Conflicting interpretations of pathogenicity rs530710210 GRCh38 Chromosome 9, 91214417: 91214417
39 AUH NM_001698.2(AUH): c.-30C> G single nucleotide variant Uncertain significance rs1057515677 GRCh37 Chromosome 9, 94124201: 94124201
40 AUH NM_001698.2(AUH): c.-30C> G single nucleotide variant Uncertain significance rs1057515677 GRCh38 Chromosome 9, 91361919: 91361919
41 AUH NM_001698.2(AUH): c.*259_*262delTTTA deletion Uncertain significance rs377176126 GRCh38 Chromosome 9, 91214086: 91214089
42 AUH NM_001698.2(AUH): c.*259_*262delTTTA deletion Uncertain significance rs377176126 GRCh37 Chromosome 9, 93976368: 93976371
43 AUH NM_001698.2(AUH): c.807G> A (p.Arg269=) single nucleotide variant Likely benign rs145208407 GRCh37 Chromosome 9, 93983123: 93983123
44 AUH NM_001698.2(AUH): c.807G> A (p.Arg269=) single nucleotide variant Likely benign rs145208407 GRCh38 Chromosome 9, 91220841: 91220841
45 AUH NM_001698.2(AUH): c.719C> T (p.Ala240Val) single nucleotide variant Uncertain significance rs769894315 GRCh37 Chromosome 9, 93983211: 93983211
46 AUH NM_001698.2(AUH): c.719C> T (p.Ala240Val) single nucleotide variant Uncertain significance rs769894315 GRCh38 Chromosome 9, 91220929: 91220929
47 AUH NM_001698.2(AUH): c.304T> A (p.Ser102Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 94118396: 94118396
48 AUH NM_001698.2(AUH): c.304T> A (p.Ser102Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 91356114: 91356114
49 AUH NM_001698.2(AUH): c.942+4dup duplication Uncertain significance GRCh38 Chromosome 9, 91216055: 91216055
50 AUH NM_001698.2(AUH): c.942+4dup duplication Uncertain significance GRCh37 Chromosome 9, 93978337: 93978337

Expression for 3-Methylglutaconic Aciduria

Search GEO for disease gene expression data for 3-Methylglutaconic Aciduria.

Pathways for 3-Methylglutaconic Aciduria

Pathways related to 3-Methylglutaconic Aciduria according to KEGG:

37
# Name Kegg Source Accession
1 Valine, leucine and isoleucine degradation hsa00280

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

# Super pathways Score Top Affiliating Genes
1 10.59 DNAJC19 TAZ TIMM50

GO Terms for 3-Methylglutaconic Aciduria

Cellular components related to 3-Methylglutaconic Aciduria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.43 DNAJC19 MT-ND1 MT-ND2 TAZ TIMM50 TMEM70
2 mitochondrion GO:0005739 9.4 ATPAF2 AUH CLPB DNAJC19 HTRA2 MCCC2
3 mitochondrial membrane GO:0031966 9.33 HTRA2 MT-ND1 TAZ

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

# Name GO ID Score Top Affiliating Genes
1 branched-chain amino acid catabolic process GO:0009083 9.26 AUH MCCC2
2 protein import into mitochondrial matrix GO:0030150 9.16 DNAJC19 TIMM50
3 mitochondrial respiratory chain complex I assembly GO:0032981 9.13 MT-ND1 MT-ND2 TAZ
4 leucine catabolic process GO:0006552 8.62 AUH MCCC2

Sources for 3-Methylglutaconic Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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