2-HGA
MCID: 2HY001
MIFTS: 33

2-Hydroxyglutaric Aciduria (2-HGA) malady

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

Summaries for 2-Hydroxyglutaric Aciduria

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Genetics Home Reference:22 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 2-HGA, 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.

Aliases & Classifications for 2-Hydroxyglutaric Aciduria

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2-Hydroxyglutaric Aciduria, Aliases & Descriptions:

Name: 2-Hydroxyglutaric Aciduria 9 42 22 61
 
2-Hga 22 61


Classifications:



External Ids:

Disease Ontology9 DOID:0050573

Related Diseases for 2-Hydroxyglutaric Aciduria

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Diseases in the L-2-Hydroxyglutaric Aciduria family:

2-hydroxyglutaric aciduria

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

idRelated DiseaseScoreTop Affiliating Genes
1l-2-hydroxyglutaric aciduria30.5L2HGDH, GLS2, GCDH
2d-2-hydroxyglutaric aciduria29.9D2HGDH, ATP5O, IDH2, IDH1
3maple syrup urine disease10.2
4dystonia10.2
5tremor10.2
6combined d-2- and l-2-hydroxyglutaric aciduria10.2
7intraductal papilloma10.1IDH1, IDH2
8interval 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:

32
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
750 MHz 1H NMR spectroscopy characterisation of the complex metabolic pattern of urine from patients with inborn errors of metabolism: 2-hydroxyglutaric aciduria and maple syrup urine disease. (9260660)
1997
7
2-Hydroxyglutaric aciduria: a case report on an infant with the D-isomeric form with review of the literature. (8981317)
1996
8
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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Expression patterns in normal tissues for genes affiliated with 2-Hydroxyglutaric Aciduria

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/GeneDecks:

(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 I37
glutathione redox reactions I37
glutathione redox reactions II37
4-hydroxy-2-nonenal detoxification37
Glutathione metabolism59
Glutathione metabolism37
9.7IDH1, IDH2
39.7IDH1, IDH2
4
Show member pathways
malate-aspartate shuttle37
glycogen biosynthesis II (from UDP-D-Glucose)37
9.6SLC25A1, MDH2
59.4ALDH5A1, GLS2
6
Show member pathways
9.4GLS2, ALDH5A1
79.2MDH2, IDH1, IDH2
8
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
9.0GLS2, GCDH, PHGDH
9
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
8.6IDH2, IDH1, MDH2, PHGDH
10
Show member pathways
TCA cycle37
pyruvate decarboxylation to acetyl CoA37
NAD phosphorylation and dephosphorylation37
TCA Cycle37
conversion of glucose to acetyl CoA and entry into the TCA cycle37
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:
25HMDB, 12DrugBank, 44Novoseek, 29IUPHAR
See all sources

Compounds related to 2-Hydroxyglutaric Aciduria according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1FADH2510.0GCDH, L2HGDH
2Oxalosuccinic acid2510.0IDH1, IDH2
3Isocitric acid25 1210.9IDH1, IDH2
4FAD259.7GCDH, L2HGDH, D2HGDH
5nadp+449.6MDH2, IDH1
6succinate449.5MDH2, ALDH5A1
7carbon dioxide44 2510.5GCDH, IDH1, IDH2
8isocitrate449.5MDH2, IDH1, IDH2
9malate449.4IDH1, MDH2
10Oxoglutaric acid259.2IDH2, IDH1, L2HGDH, PHGDH
11glucose 6-phosphate44 2510.1IDH1, GLS2, MDH2
12nadh44 25 1211.0PHGDH, MDH2, ALDH5A1
13nad29 2510.0ALDH5A1, MDH2, PHGDH, SLC25A1
14nadph44 259.9MDH2, IDH1, IDH2
15glutamine448.7IDH1, ALDH5A1, GLS2, MDH2
16glutamate448.5IDH1, ALDH5A1, GLS2, MDH2
17magnesium44 25 1210.5ATP5O, IDH2, IDH1, MDH2
18alpha-ketoglutarate448.3PHGDH, 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057437.8SLC25A1, MDH2, GCDH, L2HGDH, IDH2, ATP5O
2mitochondrial matrixGO:0057597.6IDH2, D2HGDH, ALDH5A1, GLS2, GCDH, MDH2
3mitochondrionGO:0057396.2MDH2, ATP5O, IDH2, IDH1, D2HGDH, ALDH5A1

Biological processes related to 2-Hydroxyglutaric Aciduria according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1glyoxylate cycleGO:0060979.9IDH1, IDH2
2isocitrate metabolic processGO:0061029.9IDH1, IDH2
3glutathione metabolic processGO:0067499.7ALDH5A1, IDH1
4gluconeogenesisGO:0060949.6SLC25A1, MDH2
5cellular amino acid biosynthetic processGO:0086529.5PHGDH, GLS2
6glucose metabolic processGO:0060069.4ALDH5A1, MDH2, SLC25A1
7tricarboxylic acid cycleGO:0060999.4IDH2, IDH1, MDH2
82-oxoglutarate metabolic processGO:0061039.4IDH2, IDH1, D2HGDH, L2HGDH
9respiratory electron transport chainGO:0229049.2ALDH5A1, ATP5O
10carbohydrate metabolic processGO:0059759.2IDH2, MDH2, SLC25A1
11glutamine metabolic processGO:0065419.2PHGDH, GLS2, ALDH5A1
12neurotransmitter secretionGO:0072699.1GLS2, ALDH5A1
13cellular nitrogen compound metabolic processGO:0346419.1GLS2, GCDH, PHGDH
14cellular metabolic processGO:0442378.5ATP5O, IDH2, D2HGDH, L2HGDH, MDH2
15small molecule metabolic processGO:0442816.2SLC25A1, ATP5O, IDH2, IDH1, D2HGDH, L2HGDH

Molecular functions related to 2-Hydroxyglutaric Aciduria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1flavin adenine dinucleotide bindingGO:0506609.8GCDH, D2HGDH
2isocitrate dehydrogenase (NADP+) activityGO:0044509.4IDH1, IDH2
3NAD bindingGO:0512879.1PHGDH, IDH1, IDH2

Products for genes affiliated with 2-Hydroxyglutaric Aciduria

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Sources for 2-Hydroxyglutaric Aciduria

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet