2-HGA
MCID: 2HY001
MIFTS: 33

2-Hydroxyglutaric Aciduria (2-HGA) malady

Neuronal diseases, Metabolic diseases categories

Summaries for 2-Hydroxyglutaric Aciduria

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8Disease Ontology, 21Genetics Home Reference, 32MalaCards
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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 D2HGDH (D-2-hydroxyglutarate dehydrogenase), and among its related pathways are Interconversion of 2-oxoglutarate and 2-hydroxyglutarate and 2-Oxocarboxylic acid metabolism. The compounds Isocitric Acid and carbon dioxide 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, 21Genetics Home Reference, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
2-hydroxyglutaric aciduria:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

2-hydroxyglutaric aciduria 8 21 48
2-hydroxyglutaric acidemia 48
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 aciduria30.5GLS2, L2HGDH, GCDH
2d-2-hydroxyglutaric aciduria30.2ATP5O, D2HGDH, IDH2, IDH1
3maple syrup urine disease10.2
4interval angle-closure glaucoma10.0IDH2, IDH1
5glioblastoma multiforme10.0IDH2, IDH1
6intraductal papilloma10.0IDH2, IDH1
7tuberculosis10.0MDH2, PHGDH

Graphical network of diseases related to 2-Hydroxyglutaric Aciduria:



Diseases related to 2-hydroxyglutaric aciduria

Clinical Features for 2-Hydroxyglutaric Aciduria

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Drugs & Therapeutics for 2-Hydroxyglutaric Aciduria

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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32MalaCards
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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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50PubMed
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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
9
Identification of the D-enantiomer of 2-hydroxyglutaric acid in glutaric aciduria type II. (7586571)
1995

Genetic Variations for 2-Hydroxyglutaric Aciduria

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Expression for genes affiliated with 2-Hydroxyglutaric Aciduria

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1BioGPS, 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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53Reactome, 29KEGG, 37NCBI BioSystems Database, 4Cell Signaling Technology
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Pathways related to 2-Hydroxyglutaric Aciduria according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9D2HGDH, L2HGDH
29.8IDH1, IDH2
3
Glutathione metabolism
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9.8IDH1, IDH2
4
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9.5SLC25A1, MDH2
59.4ALDH5A1, GLS2
6
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9.4GLS2, ALDH5A1
79.3PHGDH, GLS2
8
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9.3MDH2, IDH1, IDH2
99.3MDH2, IDH1, IDH2
10
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9.0IDH2, D2HGDH, MDH2, L2HGDH
119.0PHGDH, GCDH, GLS2
12
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8.7IDH2, IDH1, PHGDH, MDH2
13
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8.2MDH2, D2HGDH, IDH2, L2HGDH, ATP5O
14
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6.4ATP5O, GCDH, MDH2, PHGDH, D2HGDH, IDH2

Compounds for genes affiliated with 2-Hydroxyglutaric Aciduria

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11DrugBank, 24HMDB, 44Novoseek, 28IUPHAR
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Compounds related to 2-Hydroxyglutaric Aciduria according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1Isocitric Acid11 2411.0IDH2, IDH1
2carbon dioxide44 2410.6GCDH, IDH1, IDH2
3nadp+449.6IDH1, MDH2
4malate449.6MDH2, IDH1
5isocitrate449.5IDH1, IDH2, MDH2
6glucose 6-phosphate44 2410.1GLS2, MDH2, IDH1
7nadh44 11 2410.9ALDH5A1, MDH2, PHGDH
8nad28 249.8PHGDH, MDH2, SLC25A1, ALDH5A1
9glutamine448.7ALDH5A1, GLS2, MDH2, IDH1
10magnesium44 11 2410.5IDH1, IDH2, MDH2, ATP5O
11alpha-ketoglutarate448.3ALDH5A1, GLS2, MDH2, PHGDH, IDH1
12glutamate448.2IDH1, MDH2, GLS2, ALDH5A1

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:0057437.7SLC25A1, ATP5O, MDH2, IDH2, L2HGDH, GCDH
2mitochondrial matrixGO:0057597.7GCDH, IDH2, D2HGDH, MDH2, GLS2, ALDH5A1
3mitochondrionGO:0057396.4ALDH5A1, GCDH, L2HGDH, IDH1, IDH2, D2HGDH

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1glyoxylate cycleGO:00609710.0IDH2, IDH1
2isocitrate metabolic processGO:00610210.0IDH2, IDH1
3glutathione metabolic processGO:0067499.7ALDH5A1, IDH1
4tricarboxylic acid cycleGO:0060999.5IDH1, IDH2, MDH2
52-oxoglutarate metabolic processGO:0061039.5L2HGDH, IDH1, IDH2, D2HGDH
6cellular amino acid biosynthetic processGO:0086529.4GLS2, PHGDH
7gluconeogenesisGO:0060949.4SLC25A1, MDH2
8glucose metabolic processGO:0060069.2MDH2, SLC25A1, ALDH5A1
9carbohydrate metabolic processGO:0059759.2SLC25A1, MDH2, IDH2
10glutamine metabolic processGO:0065419.2ALDH5A1, GLS2, PHGDH
11neurotransmitter secretionGO:0072699.1GLS2, ALDH5A1
12cellular nitrogen compound metabolic processGO:0346419.1GCDH, PHGDH, GLS2
13cellular metabolic processGO:0442378.5L2HGDH, IDH2, D2HGDH, MDH2, ATP5O
14small molecule metabolic processGO:0442816.2SLC25A1, GCDH, L2HGDH, IDH1, IDH2, D2HGDH

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

idNameGO IDScoreTop Affiliating Genes
1isocitrate dehydrogenase (NADP+) activityGO:0044509.8IDH2, IDH1
2NAD bindingGO:0512879.0PHGDH, IDH2, IDH1

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet