MCID: 2HY001
MIFTS: 26

2-Hydroxyglutaric Aciduria malady

Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases categories

Aliases & Classifications for 2-Hydroxyglutaric Aciduria

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Aliases & Descriptions for 2-Hydroxyglutaric Aciduria:

Name: 2-Hydroxyglutaric Aciduria 10 45 23 12
Combined D-2- and L-2-Hydroxyglutaric Aciduria 65
 
2-Hga 23


Classifications:



External Ids:

Disease Ontology10 DOID:0050573

Summaries for 2-Hydroxyglutaric Aciduria

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NIH Rare Diseases:45 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. last updated: 7/22/2015

MalaCards based summary: 2-Hydroxyglutaric Aciduria, also known as combined d-2- and l-2-hydroxyglutaric aciduria, is related to d-2-hydroxyglutaric aciduria and l-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 Citrate cycle (TCA cycle). Affiliated tissues include brain.

Disease Ontology:10 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.

Genetics Home Reference:23 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).

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 32)
idRelated DiseaseScoreTop Affiliating Genes
1d-2-hydroxyglutaric aciduria29.2ALDH5A1, D2HGDH, GCDH, IDH1, IDH2, L2HGDH
2l-2-hydroxyglutaric aciduria10.4
3combined d-2- and l-2-hydroxyglutaric aciduria10.3
4dystonia10.3
5encephalopathy10.3
6tremor10.3
7seckel syndrome 710.1L2HGDH, SLC25A1
8alveolar periostitis10.1IDH1, IDH2
9malignant biphasic mesothelioma10.1IDH1, IDH2
10enchondromatosis dwarfism deafness10.1IDH1, IDH2
11congenital disorder of glycosylation, type if10.1IDH1, IDH2
12mixed astrocytoma-ependymoma10.1IDH1, IDH2
13small cell osteogenic sarcoma10.1IDH1, IDH2
14her2-receptor negative breast cancer10.1IDH1, IDH2
15breast leiomyoma10.1IDH1, IDH2
16suppression amblyopia10.1IDH1, IDH2
17adult brain stem glioma10.1IDH1, IDH2
18choledochal cyst10.0IDH1, IDH2
19spindle cell carcinoma10.0IDH1, IDH2
20benign peritoneal mesothelioma10.0IDH1, IDH2
21dry eye syndrome10.0IDH1, IDH2
22gastric papillary adenocarcinoma10.0IDH1, IDH2
23adams-oliver syndrome10.0IDH1, IDH2
24microglandular adenosis of breast10.0IDH1, IDH2
25anaplastic plasmacytoma10.0IDH1, IDH2
26succinic semialdehyde dehydrogenase deficiency10.0ALDH5A1, D2HGDH
27hydranencephaly10.0IDH1, IDH2
28oligohydramnios9.9IDH1, IDH2
29hypoxia9.9ALDH5A1, D2HGDH
30amnestic disorder9.8ALDH5A1, L2HGDH
31intraocular mixed cell type melanoma9.8IDH1, IDH2
32abdominal tuberculosis9.0ALDH5A1, D2HGDH, GCDH, IDH1, IDH2, L2HGDH

Graphical network of the top 20 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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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:

33
Brain

Animal Models for 2-Hydroxyglutaric Aciduria or affiliated genes

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Publications for 2-Hydroxyglutaric Aciduria

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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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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:00057438.4GCDH, IDH2, L2HGDH, SLC25A1
2mitochondrial matrixGO:00057598.2ALDH5A1, D2HGDH, GCDH, IDH2
3mitochondrionGO:00057396.4ALDH5A1, D2HGDH, GCDH, IDH1, IDH2, L2HGDH

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1glyoxylate cycleGO:000609710.0IDH1, IDH2
2isocitrate metabolic processGO:000610210.0IDH1, IDH2
3tricarboxylic acid cycleGO:00060999.9IDH1, IDH2
4glucose metabolic processGO:00060069.9ALDH5A1, SLC25A1
5glutathione metabolic processGO:00067499.8ALDH5A1, IDH1
6cellular metabolic processGO:00442379.6D2HGDH, IDH2, L2HGDH
72-oxoglutarate metabolic processGO:00061039.1D2HGDH, IDH1, IDH2, L2HGDH
8oxidation-reduction processGO:00551147.2ALDH5A1, D2HGDH, GCDH, IDH1, IDH2, L2HGDH
9small molecule metabolic processGO:00442817.2D2HGDH, GCDH, IDH1, IDH2, L2HGDH, SLC25A1

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

idNameGO IDScoreTop Affiliating Genes
1isocitrate dehydrogenase (NADP+) activityGO:00044509.9IDH1, IDH2
2oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptorGO:00166169.7IDH1, IDH2
3flavin adenine dinucleotide bindingGO:00506609.4D2HGDH, GCDH
4oxidoreductase activityGO:00164919.2ALDH5A1, D2HGDH, L2HGDH
5NAD bindingGO:00512879.1ALDH5A1, IDH1, IDH2

Sources for 2-Hydroxyglutaric Aciduria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet