MCID: 2HY001

2-Hydroxyglutaric Aciduria (2-HGA) malady

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

Aliases & Classifications for 2-Hydroxyglutaric Aciduria

Aliases & Descriptions for 2-Hydroxyglutaric Aciduria:

Name: 2-Hydroxyglutaric Aciduria 12 50 25 14
Combined D-2- and L-2-Hydroxyglutaric Aciduria 69
2-Hga 25


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Disease Ontology 12 DOID:0050573

Summaries for 2-Hydroxyglutaric Aciduria

NIH Rare Diseases : 50 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/superpathways are Metabolism and Citrate cycle (TCA cycle). 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 : 12 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

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)
id Related Disease Score Top Affiliating Genes
1 l-2-hydroxyglutaric aciduria 11.3
2 d-2-hydroxyglutaric aciduria 11.0
3 asthma 1 10.1 L2HGDH SLC25A1
4 optic disk drusen 9.9 IDH1 IDH2
5 enterovesical fistula 9.9 IDH1 IDH2
6 neurilemmoma 9.9 IDH1 IDH2
7 testis refractory cancer 9.9 IDH1 IDH2
8 cystinosis, nephropathic 9.9 IDH1 IDH2
9 small cell osteogenic sarcoma 9.9 IDH1 IDH2
10 glycogen storage disease type 0 9.9 IDH1 IDH2
11 angioma hereditary neurocutaneous 9.9 IDH1 IDH2
12 neuropathy, ataxia, and retinitis pigmentosa 9.9 IDH1 IDH2
13 breast papillomatosis 9.9 IDH1 IDH2
14 spinal cord astrocytoma 9.9 IDH1 IDH2
15 prosopagnosia 9.9 IDH1 IDH2
16 cystic lymphangioma 9.9 IDH1 IDH2
17 agammaglobulinemia 8, autosomal dominant 9.9 IDH1 IDH2
18 combined d-2- and l-2-hydroxyglutaric aciduria 9.9
19 dystonia 9.9
20 encephalopathy 9.9
21 tremor 9.9
22 amyloid tumor 9.9 IDH1 IDH2
23 t-cell adult acute lymphocytic leukemia 9.9 IDH1 IDH2
24 allergic hypersensitivity disease 9.9 IDH1 IDH2
25 vascular cancer 9.8 IDH1 IDH2
26 asynchronous multifocal osteogenic sarcoma 9.8 IDH1 IDH2
27 macrosomia with microphthalmia, lethal 9.8 IDH1 IDH2
28 adult oligodendroglioma 9.8 IDH1 IDH2
29 basophilic carcinoma 9.8 IDH1 IDH2
30 acrocallosal syndrome 9.7 D2HGDH IDH1 IDH2
31 gastroesophageal junction adenocarcinoma 9.7 IDH1 IDH2
32 gummatous syphilis 9.2 D2HGDH GCDH IDH1 IDH2 L2HGDH SLC25A1
33 systemic lupus erythematosus 2 9.2 D2HGDH 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

UMLS symptoms related to 2-Hydroxyglutaric Aciduria:

dyspnea, seizures, stridor

Drugs & Therapeutics for 2-Hydroxyglutaric Aciduria

Search Clinical Trials , NIH Clinical Center for 2-Hydroxyglutaric Aciduria

Genetic Tests for 2-Hydroxyglutaric Aciduria

Anatomical Context for 2-Hydroxyglutaric Aciduria

MalaCards organs/tissues related to 2-Hydroxyglutaric Aciduria:


Publications for 2-Hydroxyglutaric Aciduria

Articles related to 2-Hydroxyglutaric Aciduria:

id Title Authors Year
[Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria]. ( 26829733 )
Contribution of brain MRI in a patient diagnosed with 2-hydroxyglutaric aciduria. ( 23784758 )
L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair. ( 19020988 )
Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients. ( 19283509 )
Dystonia, tremor, and parkinsonism in a 54 year old man with 2-hydroxyglutaric aciduria. ( 15314137 )
Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? ( 10963100 )
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 )
2-Hydroxyglutaric aciduria: a case report on an infant with the D-isomeric form with review of the literature. ( 8981317 )
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 )

Variations for 2-Hydroxyglutaric Aciduria

Expression for 2-Hydroxyglutaric Aciduria

Search GEO for disease gene expression data for 2-Hydroxyglutaric Aciduria.

Pathways for 2-Hydroxyglutaric Aciduria

GO Terms for 2-Hydroxyglutaric Aciduria

Cellular components related to 2-Hydroxyglutaric Aciduria according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.33 IDH2 L2HGDH SLC25A1
2 peroxisome GO:0005777 9.26 IDH1 IDH2
3 mitochondrial matrix GO:0005759 9.13 D2HGDH GCDH IDH2
4 mitochondrion GO:0005739 9.1 D2HGDH GCDH IDH1 IDH2 L2HGDH SLC25A1

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

id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.55 D2HGDH GCDH IDH1 IDH2 L2HGDH
2 tricarboxylic acid cycle GO:0006099 9.37 IDH1 IDH2
3 fatty-acyl-CoA biosynthetic process GO:0046949 9.32 GCDH SLC25A1
4 isocitrate metabolic process GO:0006102 9.26 IDH1 IDH2
5 glyoxylate cycle GO:0006097 8.96 IDH1 IDH2
6 2-oxoglutarate metabolic process GO:0006103 8.92 D2HGDH IDH1 IDH2 L2HGDH

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

id Name GO ID Score Top Affiliating Genes
1 flavin adenine dinucleotide binding GO:0050660 9.4 D2HGDH GCDH
2 NAD binding GO:0051287 9.37 IDH1 IDH2
3 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.32 IDH1 IDH2
4 isocitrate dehydrogenase (NADP+) activity GO:0004450 9.26 IDH1 IDH2
5 (R)-2-hydroxyglutarate dehydrogenase activity GO:0051990 9.16 D2HGDH IDH1
6 oxidoreductase activity GO:0016491 9.02 D2HGDH GCDH IDH1 IDH2 L2HGDH
7 isocitrate dehydrogenase activity GO:0004448 8.96 IDH1 IDH2

Sources for 2-Hydroxyglutaric Aciduria

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
65 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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