MCID: 2HY001
MIFTS: 32

2-Hydroxyglutaric Aciduria

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

Aliases & Classifications for 2-Hydroxyglutaric Aciduria

MalaCards integrated aliases for 2-Hydroxyglutaric Aciduria:

Name: 2-Hydroxyglutaric Aciduria 12 53 25 15
Combined D-2- and L-2-Hydroxyglutaric Aciduria 73
2-Hydroxyglutaricaciduria 76
2-Hga 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0050573
UMLS 73 C2746066

Summaries for 2-Hydroxyglutaric Aciduria

NIH Rare Diseases : 53 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 genemutations 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.

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 1, 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 Glucose / Energy Metabolism. 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.

Wikipedia : 76 2-hydroxyglutaric aciduria is a rare neurometabolic disorder characterized by the significantly elevated... more...

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)
# Related Disease Score Top Affiliating Genes
1 l-2-hydroxyglutaric aciduria 31.8 L2HGDH MDH2 SLC25A1
2 d-2-hydroxyglutaric aciduria 1 28.9 D2HGDH GCDH IDH1 IDH2 L2HGDH
3 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria 11.1
4 interval angle-closure glaucoma 10.0 IDH1 IDH2
5 adult oligodendroglioma 10.0 IDH1 IDH2
6 enchondroma 10.0 IDH1 IDH2
7 intracranial chondrosarcoma 10.0 IDH1 IDH2
8 cytogenetically normal acute myeloid leukemia 10.0 IDH1 IDH2
9 chondroblastic osteosarcoma 10.0 IDH1 IDH2
10 intraductal papilloma 10.0 IDH1 IDH2
11 multiple enchondromatosis, maffucci type 10.0 IDH1 IDH2
12 pilocytic astrocytoma of cerebellum 10.0 IDH1 IDH2
13 maple syrup urine disease 10.0
14 combined d-2- and l-2-hydroxyglutaric aciduria 10.0
15 dystonia 10.0
16 encephalopathy 10.0
17 tremor 10.0
18 spindle cell hemangioma 10.0 IDH1 IDH2
19 glioma susceptibility 1 9.9 IDH1 IDH2
20 periosteal chondrosarcoma 9.9 IDH1 IDH2
21 adult astrocytic tumour 9.9 IDH1 IDH2
22 fibrillary astrocytoma 9.9 IDH1 IDH2
23 undifferentiated pleomorphic sarcoma 9.9 IDH1 IDH2
24 drug-induced mental disorder 9.9 IDH1 IDH2
25 drug psychosis 9.8 IDH1 IDH2
26 diffuse infiltrative lymphocytosis syndrome 9.8 IDH1 IDH2
27 brain stem glioma 9.8 IDH1 IDH2
28 breast papillary carcinoma 9.8 IDH1 IDH2
29 enchondromatosis, multiple, ollier type 9.7 IDH1 IDH2
30 bile duct adenocarcinoma 9.7 IDH1 IDH2
31 intrahepatic cholangiocarcinoma 9.6 IDH1 IDH2
32 oligodendroglioma 9.5 IDH1 IDH2
33 chondrosarcoma 9.2 IDH1 IDH2

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:

41
Brain

Publications for 2-Hydroxyglutaric Aciduria

Articles related to 2-Hydroxyglutaric Aciduria:

# Title Authors Year
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

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:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.46 IDH2 L2HGDH MDH2 SLC25A1
2 peroxisome GO:0005777 9.26 IDH1 IDH2
3 mitochondrial matrix GO:0005759 9.26 D2HGDH GCDH IDH2 MDH2
4 mitochondrion GO:0005739 9.17 D2HGDH GCDH IDH1 IDH2 L2HGDH MDH2

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.43 D2HGDH GCDH IDH1 IDH2 L2HGDH MDH2
2 gluconeogenesis GO:0006094 9.4 MDH2 SLC25A1
3 fatty-acyl-CoA biosynthetic process GO:0046949 9.37 GCDH SLC25A1
4 tricarboxylic acid cycle GO:0006099 9.33 IDH1 IDH2 MDH2
5 isocitrate metabolic process GO:0006102 9.32 IDH1 IDH2
6 glyoxylate cycle GO:0006097 9.26 IDH1 IDH2
7 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:

# 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 (R)-2-hydroxyglutarate dehydrogenase activity GO:0051990 9.32 D2HGDH IDH1
4 isocitrate dehydrogenase activity GO:0004448 9.26 IDH1 IDH2
5 isocitrate dehydrogenase (NADP+) activity GO:0004450 9.16 IDH1 IDH2
6 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.13 IDH1 IDH2 MDH2
7 oxidoreductase activity GO:0016491 9.1 D2HGDH GCDH IDH1 IDH2 L2HGDH MDH2

Sources for 2-Hydroxyglutaric Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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