MCID: 2HY001
MIFTS: 30

2-Hydroxyglutaric Aciduria malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Aliases & Classifications for 2-Hydroxyglutaric Aciduria

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2-Hydroxyglutaric Aciduria, Aliases & Descriptions:

Name: 2-Hydroxyglutaric Aciduria 9 41 21
Combined D-2- and L-2-Hydroxyglutaric Aciduria 60
 
2-Hydroxyglutaric Acidemia 41
2-Hga 21


Classifications:



External Ids:

Disease Ontology9 DOID:0050573

Summaries for 2-Hydroxyglutaric Aciduria

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Genetics Home Reference:21 2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA).

MalaCards based summary: 2-Hydroxyglutaric Aciduria, also known as combined d-2- and l-2-hydroxyglutaric aciduria, is related to l-2-hydroxyglutaric aciduria and d-2-hydroxyglutaric aciduria. An important gene associated with 2-Hydroxyglutaric Aciduria is L2HGDH (L-2-hydroxyglutarate dehydrogenase), and among its related pathways are Butanoate metabolism and Glutathione metabolism. The compounds FADH and Oxalosuccinic acid have been mentioned in the context of this disorder. Affiliated tissues include brain.

Disease Ontology:9 An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.

Related Diseases for 2-Hydroxyglutaric Aciduria

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Diseases in the 2-Hydroxyglutaric Aciduria family:

L-2-Hydroxyglutaric Aciduria

Diseases related to 2-Hydroxyglutaric Aciduria via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1l-2-hydroxyglutaric aciduria30.5L2HGDH, GLS2, GCDH
2d-2-hydroxyglutaric aciduria29.9D2HGDH, ATP5O, IDH2, IDH1
3combined d-2- and l-2-hydroxyglutaric aciduria10.2
4dystonia10.2
5tremor10.2
6intraductal papilloma10.1IDH1, IDH2
7interval angle-closure glaucoma10.0IDH1, IDH2

Graphical network of diseases related to 2-Hydroxyglutaric Aciduria:



Diseases related to 2-hydroxyglutaric aciduria

Symptoms for 2-Hydroxyglutaric Aciduria

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Drugs & Therapeutics for 2-Hydroxyglutaric Aciduria

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Drug clinical trials:

Search ClinicalTrials for 2-Hydroxyglutaric Aciduria

Search NIH Clinical Center for 2-Hydroxyglutaric Aciduria

Genetic Tests for 2-Hydroxyglutaric Aciduria

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Anatomical Context for 2-Hydroxyglutaric Aciduria

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MalaCards organs/tissues related to 2-Hydroxyglutaric Aciduria:

31
Brain

Animal Models for 2-Hydroxyglutaric Aciduria or affiliated genes

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Publications for 2-Hydroxyglutaric Aciduria

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Articles related to 2-Hydroxyglutaric Aciduria:

idTitleAuthorsYear
1
Contribution of brain MRI in a patient diagnosed with 2-hydroxyglutaric aciduria. (23784758)
2013
2
L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair. (19020988)
2009
3
Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients. (19283509)
2009
4
Dystonia, tremor, and parkinsonism in a 54 year old man with 2-hydroxyglutaric aciduria. (15314137)
2004
5
Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? (10963100)
2000
6
2-Hydroxyglutaric aciduria: a case report on an infant with the D-isomeric form with review of the literature. (8981317)
1996
7
A novel alpha-ketoglutarate reductase activity of the serA-encoded 3-phosphoglycerate dehydrogenase of Escherichia coli K-12 and its possible implications for human 2-hydroxyglutaric aciduria. (8550422)
1996

Variations for 2-Hydroxyglutaric Aciduria

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Expression for genes affiliated with 2-Hydroxyglutaric Aciduria

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Search GEO for disease gene expression data for 2-Hydroxyglutaric Aciduria.

Pathways for genes affiliated with 2-Hydroxyglutaric Aciduria

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Pathways related to 2-Hydroxyglutaric Aciduria according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8L2HGDH, ALDH5A1
2
Show member pathways
glutathione-mediated detoxification I36
glutathione redox reactions I36
glutathione redox reactions II36
4-hydroxy-2-nonenal detoxification36
Glutathione metabolism58
Glutathione metabolism36
9.7IDH1, IDH2
39.7IDH1, IDH2
4
Show member pathways
malate-aspartate shuttle36
glycogen biosynthesis II (from UDP-D-Glucose)36
9.6SLC25A1, MDH2
59.4ALDH5A1, GLS2
6
Show member pathways
9.4GLS2, ALDH5A1
79.2MDH2, IDH1, IDH2
8
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
9.0GLS2, GCDH, PHGDH
9
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
8.6IDH2, IDH1, MDH2, PHGDH
10
Show member pathways
TCA cycle36
pyruvate decarboxylation to acetyl CoA36
NAD phosphorylation and dephosphorylation36
TCA Cycle36
conversion of glucose to acetyl CoA and entry into the TCA cycle36
8.6IDH2, IDH1, D2HGDH, L2HGDH, MDH2
11
Show member pathways
8.2MDH2, L2HGDH, D2HGDH, IDH2, ATP5O
12
Show member pathways
5.5SLC25A1, ATP5O, IDH2, IDH1, D2HGDH, ALDH5A1

Compounds for genes affiliated with 2-Hydroxyglutaric Aciduria

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Sources:
24HMDB, 12DrugBank, 43Novoseek, 28IUPHAR
See all sources

Compounds related to 2-Hydroxyglutaric Aciduria according to GeneCards Suite gene sharing:

(show all 18)
idCompoundScoreTop Affiliating Genes
1FADH2410.0GCDH, L2HGDH
2Oxalosuccinic acid2410.0IDH1, IDH2
3Isocitric acid24 1210.9IDH1, IDH2
4FAD249.7GCDH, L2HGDH, D2HGDH
5nadp+439.6MDH2, IDH1
6succinate439.5MDH2, ALDH5A1
7carbon dioxide43 2410.5GCDH, IDH1, IDH2
8isocitrate439.5MDH2, IDH1, IDH2
9malate439.4IDH1, MDH2
10Oxoglutaric acid249.2IDH2, IDH1, L2HGDH, PHGDH
11glucose 6-phosphate43 2410.1IDH1, GLS2, MDH2
12nadh43 24 1211.0PHGDH, MDH2, ALDH5A1
13nad28 2410.0ALDH5A1, MDH2, PHGDH, SLC25A1
14nadph43 249.9MDH2, IDH1, IDH2
15glutamine438.7IDH1, ALDH5A1, GLS2, MDH2
16glutamate438.5IDH1, ALDH5A1, GLS2, MDH2
17magnesium43 24 1210.5ATP5O, IDH2, IDH1, MDH2
18alpha-ketoglutarate438.3PHGDH, MDH2, GLS2, ALDH5A1, IDH1

GO Terms for genes affiliated with 2-Hydroxyglutaric Aciduria

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Cellular components related to 2-Hydroxyglutaric Aciduria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:00057437.8SLC25A1, MDH2, GCDH, L2HGDH, IDH2, ATP5O
2mitochondrial matrixGO:00057597.6IDH2, D2HGDH, ALDH5A1, GLS2, GCDH, MDH2
3mitochondrionGO:00057396.2MDH2, ATP5O, IDH2, IDH1, D2HGDH, ALDH5A1

Biological processes related to 2-Hydroxyglutaric Aciduria according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1glyoxylate cycleGO:00060979.9IDH1, IDH2
2isocitrate metabolic processGO:00061029.9IDH1, IDH2
3glutathione metabolic processGO:00067499.7ALDH5A1, IDH1
4gluconeogenesisGO:00060949.6SLC25A1, MDH2
5cellular amino acid biosynthetic processGO:00086529.5PHGDH, GLS2
6glucose metabolic processGO:00060069.4ALDH5A1, MDH2, SLC25A1
7tricarboxylic acid cycleGO:00060999.4IDH2, IDH1, MDH2
82-oxoglutarate metabolic processGO:00061039.4IDH2, IDH1, D2HGDH, L2HGDH
9respiratory electron transport chainGO:00229049.2ALDH5A1, ATP5O
10carbohydrate metabolic processGO:00059759.2IDH2, MDH2, SLC25A1
11glutamine metabolic processGO:00065419.2PHGDH, GLS2, ALDH5A1
12neurotransmitter secretionGO:00072699.1GLS2, ALDH5A1
13cellular nitrogen compound metabolic processGO:00346419.1GLS2, GCDH, PHGDH
14cellular metabolic processGO:00442378.5ATP5O, IDH2, D2HGDH, L2HGDH, MDH2
15small molecule metabolic processGO:00442816.2SLC25A1, ATP5O, IDH2, IDH1, D2HGDH, L2HGDH

Molecular functions related to 2-Hydroxyglutaric Aciduria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1flavin adenine dinucleotide bindingGO:00506609.8GCDH, D2HGDH
2isocitrate dehydrogenase (NADP+) activityGO:00044509.4IDH1, IDH2
3NAD bindingGO:00512879.1PHGDH, IDH1, IDH2

Products for genes affiliated with 2-Hydroxyglutaric Aciduria

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Sources for 2-Hydroxyglutaric Aciduria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet