MCID: 2HY001
MIFTS: 33

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

Classifications:



External Ids:

Disease Ontology10 DOID:0050573
UMLS65 C2746066

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, and has symptoms including stridor, seizures and dyspnea. 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, bone marrow and bone.

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 33)
idRelated DiseaseScoreTop Affiliating Genes
1d-2-hydroxyglutaric aciduria27.3ALDH5A1, D2HGDH, GCDH, IDH1, IDH2, L2HGDH
2l-2-hydroxyglutaric aciduria10.7
3seckel syndrome 710.3L2HGDH, SLC25A1
4mast-cell leukemia10.1ALDH5A1, L2HGDH
5paranasal sinus lymphoma10.1IDH1, IDH2
6brain oligodendroglioma10.1IDH1, IDH2
7enchondromatosis dwarfism deafness10.1IDH1, IDH2
8mixed astrocytoma-ependymoma10.1IDH1, IDH2
9congenital disorder of glycosylation, type if10.1IDH1, IDH2
10juxtacortical osteosarcoma10.1IDH1, IDH2
11diencephalic astrocytomas10.1IDH1, IDH2
12anaplastic plasmacytoma10.0IDH1, IDH2
13breast myofibroblastoma10.0IDH1, IDH2
14bone marrow cancer10.0IDH1, IDH2
15grade iii astrocytoma10.0IDH1, IDH2
16colon small cell carcinoma10.0IDH1, IDH2
17myositis ossificans10.0IDH1, IDH2
18hypoxia10.0ALDH5A1, D2HGDH
19combined d-2- and l-2-hydroxyglutaric aciduria10.0
20dystonia10.0
21encephalopathy10.0
22tremor10.0
23panuveitis10.0IDH1, IDH2
24conjunctiva squamous cell carcinoma10.0IDH1, IDH2
25gastric papillary adenocarcinoma9.9IDH1, IDH2
26childhood cerebral astrocytoma9.9IDH1, IDH2
27agraphia9.9IDH1, IDH2
28hydranencephaly9.8IDH1, IDH2
29tubular adenocarcinoma9.7IDH1, IDH2
30gliomatosis peritonei9.7IDH1, IDH2
31childhood oligodendroglioma9.6IDH1, IDH2
32glioma9.4IDH1, IDH2
33hereditary lymphedema7.6ALDH5A1, 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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UMLS symptoms related to 2-Hydroxyglutaric Aciduria:


stridor, seizures, dyspnea

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, Bone marrow, Bone, Colon, Breast, Temporal lobe, T cells

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

idNameGO IDScoreTop Affiliating Genes
12-oxoglutarate metabolic processGO:00061039.8IDH1, L2HGDH
2tricarboxylic acid cycleGO:00060999.6IDH1, IDH2
3glucose metabolic processGO:00060069.5ALDH5A1, SLC25A1
4glutathione metabolic processGO:00067499.0ALDH5A1, IDH1

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

idNameGO IDScoreTop Affiliating Genes
1flavin adenine dinucleotide bindingGO:00506609.2D2HGDH, GCDH

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