MCID: 2HY001
MIFTS: 29

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 11 46 24 13
Combined D-2- and L-2-Hydroxyglutaric Aciduria 66
 
2-Hga 24

Classifications:



External Ids:

Disease Ontology11 DOID:0050573

Summaries for 2-Hydroxyglutaric Aciduria

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NIH Rare Diseases:46 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 dyspnea, seizures and stridor. An important gene associated with 2-Hydroxyglutaric Aciduria is L2HGDH (L-2-Hydroxyglutarate Dehydrogenase), and among its related pathways are Citrate cycle (TCA cycle) and Peroxisome. Affiliated tissues include brain.

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.

Genetics Home Reference:24 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 34)
idRelated DiseaseScoreTop Affiliating Genes
1d-2-hydroxyglutaric aciduria27.9D2HGDH, GCDH, IDH1, IDH2, L2HGDH
2l-2-hydroxyglutaric aciduria10.7
3seckel syndrome 710.2L2HGDH, SLC25A1
4combined d-2- and l-2-hydroxyglutaric aciduria10.0
5dystonia10.0
6encephalopathy10.0
7tremor10.0
8subserous uterine fibroid9.8IDH1, IDH2
9spinal cord disease9.8IDH1, IDH2
10endomyocardial fibroelastosis9.8IDH1, IDH2
11cystinosis, nephropathic9.8IDH1, IDH2
12maxillary sinus squamous cell carcinoma9.8IDH1, IDH2
13anaplastic small cell lymphoma9.8IDH1, IDH2
14dyserythropoietic anemia and thrombocytopenia9.8IDH1, IDH2
15gliofibroma9.8IDH1, IDH2
16benign breast phyllodes tumor9.7IDH1, IDH2
17juvenile astrocytoma9.7IDH1, IDH2
18pericardial tuberculosis9.7IDH1, IDH2
19intrahepatic bile duct cystadenoma9.7IDH1, IDH2
20capgras syndrome9.7IDH1, IDH2
21early myoclonic encephalopathy9.7IDH1, IDH2
22kernicterus due to isoimmunization9.7IDH1, IDH2
23vascular cancer9.7IDH1, IDH2
24papillary thymic adenocarcinoma9.6IDH1, IDH2
25protoplasmic astrocytoma9.6IDH1, IDH2
26fryns macrocephaly9.6IDH1, IDH2
27peripheral osteosarcoma9.6IDH1, IDH2
28neuropathy, ataxia, and retinitis pigmentosa9.5IDH1, IDH2
29spinal cord oligodendroglioma9.5IDH1, IDH2
30nasal cavity adenocarcinoma9.4IDH1, IDH2
31global disaccharide intolerance9.4IDH1, IDH2
32giant cell glioblastoma9.3IDH1, IDH2
33trichorhinophalangeal syndrome, type ii9.1IDH1, IDH2
34brachydactyly7.9D2HGDH, GCDH, IDH1, IDH2, L2HGDH, SLC25A1

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:


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:

34
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
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
Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients. (19283509)
2009
4
L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair. (19020988)
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
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
2-Hydroxyglutaric aciduria: a case report on an infant with the D-isomeric form with review of the literature. (8981317)
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
1peroxisomeGO:00057779.2IDH1, IDH2
2mitochondrial matrixGO:00057599.1D2HGDH, GCDH, IDH2
3mitochondrial inner membraneGO:00057438.8IDH2, L2HGDH, SLC25A1
4mitochondrionGO:00057397.1D2HGDH, GCDH, IDH1, IDH2, L2HGDH, SLC25A1

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

idNameGO IDScoreTop Affiliating Genes
1cellular protein metabolic processGO:00442679.7D2HGDH, L2HGDH
2glyoxylate cycleGO:00060979.6IDH1, IDH2
3isocitrate metabolic processGO:00061029.6IDH1, IDH2
4tricarboxylic acid cycleGO:00060998.7IDH1, IDH2
52-oxoglutarate metabolic processGO:00061038.2D2HGDH, IDH1, IDH2, L2HGDH

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

idNameGO IDScoreTop Affiliating Genes
1isocitrate dehydrogenase activityGO:00044489.5IDH1, IDH2
2isocitrate dehydrogenase (NADP+) activityGO:00044509.5IDH1, IDH2
3flavin adenine dinucleotide bindingGO:00506609.5D2HGDH, GCDH
4(R)-2-hydroxyglutarate dehydrogenase activityGO:00519909.3D2HGDH, IDH1
5NAD bindingGO:00512878.7IDH1, IDH2

Sources for 2-Hydroxyglutaric Aciduria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet