2-HGA
MCID: 2HY001
MIFTS: 34

2-Hydroxyglutaric Aciduria (2-HGA) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for 2-Hydroxyglutaric Aciduria

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8Disease Ontology, 21Genetics Home Reference, 33MalaCards
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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: 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:8 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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8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 49Orphanet, 26ICD10 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):

49
2-hydroxyglutaric aciduria:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

2-hydroxyglutaric aciduria 8 43 21 49
2-hydroxyglutaric acidemia 49
2-hga 21


External Ids:

Disease Ontology8 DOID:0050573
ICD10 via Orphanet26 E72.8

Related Diseases for 2-Hydroxyglutaric Aciduria

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17GeneCards, 18GeneDecks
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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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42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to 2-Hydroxyglutaric Aciduria:

33
Brain

Animal Models for 2-Hydroxyglutaric Aciduria or affiliated genes

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Publications for 2-Hydroxyglutaric Aciduria

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52PubMed
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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, 15Gene 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:
50PathCards, 30KEGG, 38NCBI BioSystems Database, 55Reactome, 60Thomson Reuters, 5Cell Signaling Technology, 51PharmGKB
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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 I38
glutathione redox reactions I38
glutathione redox reactions II38
4-hydroxy-2-nonenal detoxification38
Glutathione metabolism60
Glutathione metabolism38
9.7IDH2, IDH1
39.7IDH1, IDH2
4
Show member pathways
malate-aspartate shuttle38
glycogen biosynthesis II (from UDP-D-Glucose)38
9.6SLC25A1, MDH2
5
Show member pathways
9.4ALDH5A1, GLS2
69.4ALDH5A1, GLS2
79.2IDH1, MDH2, IDH2
8
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
9.0PHGDH, GLS2, GCDH
9
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
8.6PHGDH, MDH2, IDH2, IDH1
10
Show member pathways
TCA cycle38
pyruvate decarboxylation to acetyl CoA38
NAD phosphorylation and dephosphorylation38
TCA Cycle38
conversion of glucose to acetyl CoA and entry into the TCA cycle38
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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24HMDB, 11DrugBank, 45Novoseek, 29IUPHAR
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Compounds related to 2-Hydroxyglutaric Aciduria according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1FADH2410.0GCDH, L2HGDH
2Oxalosuccinic acid2410.0IDH1, IDH2
3Isocitric acid24 1110.9IDH1, IDH2
4FAD249.7GCDH, L2HGDH, D2HGDH
5nadp+459.6MDH2, IDH1
6succinate459.5MDH2, ALDH5A1
7carbon dioxide45 2410.5GCDH, IDH1, IDH2
8isocitrate459.5MDH2, IDH1, IDH2
9malate459.4IDH1, MDH2
10Oxoglutaric acid249.2IDH2, IDH1, L2HGDH, PHGDH
11glucose 6-phosphate45 2410.1IDH1, GLS2, MDH2
12nadh45 24 1111.0PHGDH, MDH2, ALDH5A1
13nad29 2410.0ALDH5A1, MDH2, PHGDH, SLC25A1
14nadph45 249.9MDH2, IDH1, IDH2
15glutamine458.7IDH1, ALDH5A1, GLS2, MDH2
16glutamate458.5IDH1, ALDH5A1, GLS2, MDH2
17magnesium45 24 1110.5ATP5O, IDH2, IDH1, MDH2
18alpha-ketoglutarate458.3PHGDH, MDH2, GLS2, ALDH5A1, IDH1

GO Terms for genes affiliated with 2-Hydroxyglutaric Aciduria

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16Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet