MCID: 2HY001
MIFTS: 28

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 47 25 13
Combined D-2- and L-2-Hydroxyglutaric Aciduria 67
 
2-Hga 25

Classifications:



External Ids:

Disease Ontology11 DOID:0050573

Summaries for 2-Hydroxyglutaric Aciduria

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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).

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 SLC25A1 (Solute Carrier Family 25 Member 1), 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.

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 aciduria29.4D2HGDH, GCDH, IDH1, IDH2, L2HGDH
2l-2-hydroxyglutaric aciduria11.3
3seckel syndrome 710.2L2HGDH, SLC25A1
4combined d-2- and l-2-hydroxyglutaric aciduria9.9
5dystonia9.9
6encephalopathy9.9
7tremor9.9
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 adenocarcinoma9.7IDH1, IDH2
25protoplasmic astrocytoma9.6IDH1, IDH2
26fryns macrocephaly9.6IDH1, IDH2
27peripheral osteosarcoma9.6IDH1, IDH2
28neuropathy, ataxia, and retinitis pigmentosa9.6IDH1, IDH2
29spinal cord oligodendroglioma9.5IDH1, IDH2
30nasal cavity adenocarcinoma9.5IDH1, IDH2
31global disaccharide intolerance9.5IDH1, IDH2
32giant cell glioblastoma9.4IDH1, IDH2
33trichorhinophalangeal syndrome, type ii9.2IDH1, IDH2
34brachydactyly8.1D2HGDH, 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:

35
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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Clinvar genetic disease variations for 2-Hydroxyglutaric Aciduria:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SLC25A1NM_005984.4(SLC25A1): c.844C> G (p.Arg282Gly)SNVPathogenicrs431905509GRCh37Chr 22, 19163735: 19163735
2SLC25A1NM_005984.4(SLC25A1): c.844C> T (p.Arg282Cys)SNVPathogenicrs431905509GRCh37Chr 22, 19163735: 19163735
3SLC25A1NM_005984.4(SLC25A1): c.845G> A (p.Arg282His)SNVPathogenicrs431905510GRCh37Chr 22, 19163734: 19163734
4SLC25A1NM_005984.4(SLC25A1): c.389G> A (p.Gly130Asp)SNVPathogenicrs368647424GRCh37Chr 22, 19165292: 19165292
5SLC25A1NM_005984.4(SLC25A1): c.821C> T (p.Ala274Val)SNVPathogenicrs483352910GRCh37Chr 22, 19163934: 19163934
6SLC25A1NM_005984.4(SLC25A1): c.517_526delCGGGAACAAG (p.Arg173Glyfs)deletionPathogenicrs483352911GRCh37Chr 22, 19164633: 19164642

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:00057779.4IDH1, IDH2
2mitochondrial matrixGO:00057599.0D2HGDH, GCDH, IDH2
3mitochondrial inner membraneGO:00057439.0IDH2, 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
1glyoxylate cycleGO:00060979.6IDH1, IDH2
2isocitrate metabolic processGO:00061029.6IDH1, IDH2
3cellular protein metabolic processGO:00442679.5D2HGDH, L2HGDH
4tricarboxylic acid cycleGO:00060999.0IDH1, IDH2
52-oxoglutarate metabolic processGO:00061037.8D2HGDH, 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:00506609.4D2HGDH, GCDH
4(R)-2-hydroxyglutarate dehydrogenase activityGO:00519909.2D2HGDH, IDH1
5NAD bindingGO:00512878.7IDH1, IDH2

Sources for 2-Hydroxyglutaric Aciduria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet