MCID: 2HY001
MIFTS: 33

2-Hydroxyglutaric Aciduria

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

Aliases & Classifications for 2-Hydroxyglutaric Aciduria

MalaCards integrated aliases for 2-Hydroxyglutaric Aciduria:

Name: 2-Hydroxyglutaric Aciduria 12 49 24 14
Combined D-2- and L-2-Hydroxyglutaric Aciduria 69
2-Hydroxyglutaricaciduria 72
2-Hga 24

Classifications:



External Ids:

Disease Ontology 12 DOID:0050573
UMLS 69 C2746066

Summaries for 2-Hydroxyglutaric Aciduria

NIH Rare Diseases : 49 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. Last updated: 4/7/2017

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 stridor, seizures and dyspnea. An important gene associated with 2-Hydroxyglutaric Aciduria is L2HGDH (L-2-Hydroxyglutarate Dehydrogenase), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include brain.

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.

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).

Wikipedia : 72 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 32.0 L2HGDH MDH2 SLC25A1
2 d-2-hydroxyglutaric aciduria 1 29.9 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 glioma susceptibility 1 10.0 IDH1 IDH2
9 anaplastic oligodendroglioma 10.0 IDH1 IDH2
10 cytogenetically normal acute myeloid leukemia 10.0 IDH1 IDH2
11 chondroblastic osteosarcoma 10.0 IDH1 IDH2
12 intraductal papilloma 10.0 IDH1 IDH2
13 multiple enchondromatosis, maffucci type 10.0 IDH1 IDH2
14 maple syrup urine disease 10.0
15 combined d-2- and l-2-hydroxyglutaric aciduria 10.0
16 dystonia 10.0
17 encephalopathy 10.0
18 tremor 10.0
19 spindle cell hemangioma 10.0 IDH1 IDH2
20 periosteal chondrosarcoma 10.0 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 9.9 IDH1 IDH2
26 diffuse infiltrative lymphocytosis syndrome 9.9 IDH1 IDH2
27 breast papillary carcinoma 9.9 IDH1 IDH2
28 enchondromatosis, multiple, ollier type 9.8 IDH1 IDH2
29 bile duct adenocarcinoma 9.8 IDH1 IDH2
30 intrahepatic cholangiocarcinoma 9.8 IDH1 IDH2
31 oligodendroglioma 9.7 IDH1 IDH2
32 chondrosarcoma 9.7 IDH1 IDH2
33 brain cancer 9.5 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:


stridor, seizures, dyspnea

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:

38
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
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
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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.33 D2HGDH GCDH IDH1 IDH2 L2HGDH MDH2
2
Show member pathways
12.96 D2HGDH IDH2 L2HGDH MDH2
3 12.03 IDH1 IDH2 MDH2
4
Show member pathways
11.82 IDH1 IDH2 MDH2
5 11.39 IDH1 MDH2
6 11.32 IDH1 IDH2
7
Show member pathways
11.14 IDH1 IDH2 MDH2
8
Show member pathways
11.04 D2HGDH IDH2 L2HGDH MDH2
9
Show member pathways
10.37 IDH1 IDH2

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
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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