2-HGA
MCID: 2HY001
MIFTS: 29

2-Hydroxyglutaric Aciduria (2-HGA) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for 2-Hydroxyglutaric Aciduria

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Aliases & Descriptions for 2-Hydroxyglutaric Aciduria:

Name: 2-Hydroxyglutaric Aciduria 11 48 25 13
Combined D-2- and L-2-Hydroxyglutaric Aciduria 68
 
2-Hga 25

Classifications:



External Ids:

Disease Ontology11 DOID:0050573

Summaries for 2-Hydroxyglutaric Aciduria

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NIH Rare Diseases:48 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). the main features of d-2-hga vary within the different types but, in general, may include delayed development; seizures; weak muscle tone (hypotonia); and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. the different types and subtypes are caused by different gene mutations and are inherited in an autosomal recessive pattern, except for a d-2hga subtype, known as type ii d-2-hga, which is inherited in an autosomal dominant pattern. there is no cure yet. treatment depends on the symptoms. management mainly involves control of seizures when they are present. last updated: 4/7/2017

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, and has symptoms including dyspnea, seizures and stridor. An important gene associated with 2-Hydroxyglutaric Aciduria is L2HGDH (L-2-Hydroxyglutarate Dehydrogenase), and among its related pathways are Peroxisome and Cytosine methylation. Affiliated tissues include brain.

Genetics Home Reference:25 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).

Disease Ontology:11 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:

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1l-2-hydroxyglutaric aciduria11.3
2d-2-hydroxyglutaric aciduria11.0
3asthma 110.1L2HGDH, SLC25A1
4optic disk drusen9.9IDH1, IDH2
5enterovesical fistula9.9IDH1, IDH2
6neurilemmoma9.9IDH1, IDH2
7testis refractory cancer9.9IDH1, IDH2
8cystinosis, nephropathic9.9IDH1, IDH2
9small cell osteogenic sarcoma9.9IDH1, IDH2
10glycogen storage disease type 09.9IDH1, IDH2
11angioma hereditary neurocutaneous9.9IDH1, IDH2
12neuropathy, ataxia, and retinitis pigmentosa9.9IDH1, IDH2
13breast papillomatosis9.9IDH1, IDH2
14spinal cord astrocytoma9.9IDH1, IDH2
15prosopagnosia9.9IDH1, IDH2
16cystic lymphangioma9.9IDH1, IDH2
17agammaglobulinemia 8, autosomal dominant9.9IDH1, IDH2
18combined d-2- and l-2-hydroxyglutaric aciduria9.9
19dystonia9.9
20encephalopathy9.9
21tremor9.9
22amyloid tumor9.9IDH1, IDH2
23t-cell adult acute lymphocytic leukemia9.9IDH1, IDH2
24allergic hypersensitivity disease9.9IDH1, IDH2
25vascular cancer9.8IDH1, IDH2
26asynchronous multifocal osteogenic sarcoma9.8IDH1, IDH2
27macrosomia with microphthalmia, lethal9.8IDH1, IDH2
28adult oligodendroglioma9.8IDH1, IDH2
29basophilic carcinoma9.8IDH1, IDH2
30acrocallosal syndrome9.7D2HGDH, IDH1, IDH2
31gastroesophageal junction adenocarcinoma9.7IDH1, IDH2
32gummatous syphilis9.2D2HGDH, GCDH, IDH1, IDH2, L2HGDH, SLC25A1
33systemic lupus erythematosus 29.2D2HGDH, GCDH, IDH1, IDH2, L2HGDH, SLC25A1

Graphical network of the top 20 diseases related to 2-Hydroxyglutaric Aciduria:



Diseases related to 2-hydroxyglutaric aciduria

Symptoms & Phenotypes for 2-Hydroxyglutaric Aciduria

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UMLS symptoms related to 2-Hydroxyglutaric Aciduria:


dyspnea, seizures, stridor

Drugs & Therapeutics for 2-Hydroxyglutaric Aciduria

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Interventional clinical trials:

Search ClinicalTrials, 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:

36
Brain

Publications for 2-Hydroxyglutaric Aciduria

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Articles related to 2-Hydroxyglutaric Aciduria:

idTitleAuthorsYear
1
Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria]. (26829733)
2016
2
Contribution of brain MRI in a patient diagnosed with 2-hydroxyglutaric aciduria. (23784758)
2013
3
L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair. (19020988)
2009
4
Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients. (19283509)
2009
5
Dystonia, tremor, and parkinsonism in a 54 year old man with 2-hydroxyglutaric aciduria. (15314137)
2004
6
Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? (10963100)
2000
7
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
8
2-Hydroxyglutaric aciduria: a case report on an infant with the D-isomeric form with review of the literature. (8981317)
1996
9
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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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:00057439.7IDH2, L2HGDH, SLC25A1
2mitochondrial matrixGO:00057599.6D2HGDH, GCDH, IDH2
3peroxisomeGO:00057779.0IDH1, IDH2
4mitochondrionGO:00057397.7D2HGDH, GCDH, IDH1, IDH2, L2HGDH, SLC25A1

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

idNameGO IDScoreTop Affiliating Genes
1fatty-acyl-CoA biosynthetic processGO:004694910.1GCDH, SLC25A1
2glyoxylate cycleGO:00060979.7IDH1, IDH2
3isocitrate metabolic processGO:00061029.7IDH1, IDH2
4tricarboxylic acid cycleGO:00060999.0IDH1, IDH2
52-oxoglutarate metabolic processGO:00061038.9D2HGDH, IDH1, IDH2, L2HGDH
6oxidation-reduction processGO:00551148.0D2HGDH, GCDH, IDH1, IDH2, L2HGDH

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1flavin adenine dinucleotide bindingGO:005066010.2D2HGDH, GCDH
2(R)-2-hydroxyglutarate dehydrogenase activityGO:00519909.9D2HGDH, IDH1
3isocitrate dehydrogenase (NADP+) activityGO:00044509.7IDH1, IDH2
4isocitrate dehydrogenase activityGO:00044489.7IDH1, IDH2
5NAD bindingGO:00512879.7IDH1, IDH2
6oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptorGO:00166169.0IDH1, IDH2
7oxidoreductase activityGO:00164918.0D2HGDH, GCDH, IDH1, IDH2, L2HGDH

Sources for 2-Hydroxyglutaric Aciduria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet