2-HGA
MCID: 2HY001
MIFTS: 34

2-Hydroxyglutaric Aciduria (2-HGA) malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for 2-Hydroxyglutaric Aciduria

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9Disease Ontology, 22Genetics Home Reference, 34MalaCards
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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: 2-Hydroxyglutaric Aciduria, also known as 2-hydroxyglutaric acidemia, 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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9Disease Ontology, 44NIH Rare Diseases, 22Genetics Home Reference, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
2-hydroxyglutaric aciduria:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

2-hydroxyglutaric aciduria 9 44 22 50
2-hydroxyglutaric acidemia 50
2-hga 22


External Ids:

Disease Ontology9 DOID:0050573
ICD10 via Orphanet27 E72.8

Related Diseases for 2-Hydroxyglutaric Aciduria

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18GeneCards, 19GeneDecks
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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 aciduria30.6GCDH, L2HGDH, GLS2
2d-2-hydroxyglutaric aciduria30.2ATP5O, IDH2, IDH1, D2HGDH
3maple syrup urine disease10.2
4dystonia10.2
5tremor10.2
6combined d-2- and l-2-hydroxyglutaric aciduria10.2
7intraductal papilloma10.0IDH2, IDH1
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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for 2-Hydroxyglutaric Aciduria

Drug clinical trials:

Search ClinicalTrials for 2-Hydroxyglutaric Aciduria

Search NIH Clinical Center for 2-Hydroxyglutaric Aciduria

Search CenterWatch for 2-Hydroxyglutaric Aciduria

Genetic Tests for 2-Hydroxyglutaric Aciduria

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Anatomical Context for 2-Hydroxyglutaric Aciduria

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34MalaCards
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MalaCards organs/tissues related to 2-Hydroxyglutaric Aciduria:

34
Brain

Animal Models for 2-Hydroxyglutaric Aciduria or affiliated genes

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Publications for 2-Hydroxyglutaric Aciduria

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53PubMed
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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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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Sources:
51PathCards, 31KEGG, 39NCBI BioSystems Database, 56Reactome, 61Thomson Reuters, 5Cell Signaling Technology, 52PharmGKB
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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
9.8ALDH5A1, L2HGDH
2
Show member pathways
glutathione-mediated detoxification I39
glutathione redox reactions I39
glutathione redox reactions II39
4-hydroxy-2-nonenal detoxification39
Glutathione metabolism61
Glutathione metabolism39
9.7IDH2, IDH1
39.7IDH1, IDH2
4
Show member pathways
malate-aspartate shuttle39
glycogen biosynthesis II (from UDP-D-Glucose)39
9.6SLC25A1, MDH2
5
Show member pathways
9.4ALDH5A1, GLS2
69.4ALDH5A1, GLS2
79.2IDH1, MDH2, IDH2
8
Show member pathways
creatine-phosphate biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
9.0PHGDH, GLS2, GCDH
9
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
8.6PHGDH, MDH2, IDH2, IDH1
10
Show member pathways
TCA cycle39
pyruvate decarboxylation to acetyl CoA39
NAD phosphorylation and dephosphorylation39
TCA Cycle39
conversion of glucose to acetyl CoA and entry into the TCA cycle39
8.6MDH2, L2HGDH, D2HGDH, IDH1, IDH2
11
Show member pathways
8.2ATP5O, IDH2, L2HGDH, MDH2, D2HGDH
12
Show member pathways
5.5PHGDH, IDH2, IDH1, D2HGDH, ALDH5A1, SLC25A1

Compounds for genes affiliated with 2-Hydroxyglutaric Aciduria

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25HMDB, 12DrugBank, 46Novoseek, 30IUPHAR
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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+469.6MDH2, IDH1
6succinate469.5MDH2, ALDH5A1
7carbon dioxide46 2510.5GCDH, IDH1, IDH2
8isocitrate469.5MDH2, IDH1, IDH2
9malate469.4IDH1, MDH2
10Oxoglutaric acid259.2IDH2, IDH1, L2HGDH, PHGDH
11glucose 6-phosphate46 2510.1IDH1, GLS2, MDH2
12nadh46 25 1211.0PHGDH, MDH2, ALDH5A1
13nad30 2510.0ALDH5A1, MDH2, PHGDH, SLC25A1
14nadph46 259.9MDH2, IDH1, IDH2
15glutamine468.7IDH1, ALDH5A1, GLS2, MDH2
16glutamate468.5IDH1, ALDH5A1, GLS2, MDH2
17magnesium46 25 1210.5ATP5O, IDH2, IDH1, MDH2
18alpha-ketoglutarate468.3PHGDH, MDH2, GLS2, ALDH5A1, IDH1

GO Terms for genes affiliated with 2-Hydroxyglutaric Aciduria

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17Gene Ontology
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Cellular components related to 2-Hydroxyglutaric Aciduria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057437.8ATP5O, IDH2, L2HGDH, GCDH, SLC25A1, MDH2
2mitochondrial matrixGO:0057597.6D2HGDH, ALDH5A1, GLS2, GCDH, MDH2, IDH2
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
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet