2-HGA
MCID: 2HY001
MIFTS: 39

2-Hydroxyglutaric Aciduria (2-HGA)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare 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 seizures, dyspnea 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, liver and skeletal muscle.

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 : 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).

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 36)
# Related Disease Score Top Affiliating Genes
1 l-2-hydroxyglutaric aciduria 32.3 L2HGDH MDH2 SLC25A1
2 d-2-hydroxyglutaric aciduria 1 31.5 D2HGDH GCDH IDH1 IDH2 L2HGDH
3 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria 11.3
4 maple syrup urine disease 10.1
5 combined d-2- and l-2-hydroxyglutaric aciduria 10.1
6 dystonia 10.1
7 inherited metabolic disorder 10.1
8 tremor 10.1
9 encephalopathy 10.1
10 interval angle-closure glaucoma 10.0 IDH1 IDH2
11 adult oligodendroglioma 10.0 IDH1 IDH2
12 oligodendroglioma 10.0 IDH1 IDH2
13 enchondroma 10.0 IDH1 IDH2
14 intracranial chondrosarcoma 10.0 IDH1 IDH2
15 chondrosarcoma 10.0 IDH1 IDH2
16 cytogenetically normal acute myeloid leukemia 10.0 IDH1 IDH2
17 chondroblastic osteosarcoma 10.0 IDH1 IDH2
18 multiple enchondromatosis, maffucci type 10.0 IDH1 IDH2
19 intraductal papilloma 10.0 IDH1 IDH2
20 pilocytic astrocytoma of cerebellum 10.0 IDH1 IDH2
21 spindle cell hemangioma 10.0 IDH1 IDH2
22 periosteal chondrosarcoma 10.0 IDH1 IDH2
23 glioma susceptibility 1 10.0 IDH1 IDH2
24 adult astrocytic tumour 10.0 IDH1 IDH2
25 fibrillary astrocytoma 10.0 IDH1 IDH2
26 diffuse infiltrative lymphocytosis syndrome 10.0 IDH1 IDH2
27 drug-induced mental disorder 10.0 IDH1 IDH2
28 drug psychosis 9.9 IDH1 IDH2
29 undifferentiated pleomorphic sarcoma 9.9 IDH1 IDH2
30 bile duct adenocarcinoma 9.9 IDH1 IDH2
31 enchondromatosis, multiple, ollier type 9.9 IDH1 IDH2
32 brain stem glioma 9.9 IDH1 IDH2
33 supratentorial cancer 9.9 IDH1 IDH2
34 cerebrum cancer 9.9 IDH1 IDH2
35 central nervous system cancer 9.8 IDH1 IDH2
36 intrahepatic cholangiocarcinoma 9.8 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:


seizures, dyspnea, 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, Liver, Skeletal Muscle, Cerebellum, Myeloid

Publications for 2-Hydroxyglutaric Aciduria

Articles related to 2-Hydroxyglutaric Aciduria:

(show top 50) (show all 149)
# Title Authors Year
1
Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome. ( 29265763 )
2018
2
Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation. ( 29654543 )
2018
3
Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria. ( 29744569 )
2018
4
A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review. ( 29980873 )
2018
5
Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2. ( 29987523 )
2018
6
A Drosophila model of combined D-2- and L-2-hydroxyglutaric aciduria reveals a mechanism linking mitochondrial citrate export with oncometabolite accumulation. ( 30108060 )
2018
7
Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria. ( 30217188 )
2018
8
Teaching NeuroImages: Imaging in metabolic leukoencephalopathy, L-2-hydroxyglutaric aciduria. ( 30323080 )
2018
9
Oxidative stress among L-2-hydroxyglutaric aciduria disease patients: evaluation of dynamic thiol/disulfide homeostasis. ( 30499066 )
2018
10
Experimental evidence of oxidative stress in patients with l-2-hydroxyglutaric aciduria and that l-carnitine attenuates in vitro DNA damage caused by d-2-hydroxyglutaric and l-2-hydroxyglutaric acids. ( 28396261 )
2017
11
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. ( 29238895 )
2017
12
An L-2-Hydroxyglutaric Aciduria Case Presented With Acute Bacterial Meningitis. ( 28141777 )
2017
13
[Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria]. ( 26829733 )
2016
14
Clinical features and disease progression of L-2-hydroxyglutaric aciduria in 27 Staffordshire bull terriers. ( 27729589 )
2016
15
A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model. ( 27469509 )
2016
16
In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria. ( 27543339 )
2016
17
Why is L-2 hydroxyglutaric aciduria relevant for a general practitioner? ( 27885126 )
2016
18
Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria. ( 25614306 )
2015
19
A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study. ( 26208971 )
2015
20
White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria. ( 25982940 )
2015
21
A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair. ( 25763823 )
2015
22
Gliomatosis cerebri in L-2-hydroxyglutaric aciduria. ( 25997888 )
2015
23
An interesting case of metabolic dystonia: L-2 hydroxyglutaric aciduria. ( 24753671 )
2014
24
L-2-Hydroxyglutaric aciduria: a case report. ( 25033591 )
2014
25
Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria. ( 25338511 )
2014
26
Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds. ( 24894778 )
2014
27
A case of L-2 hydroxyglutaric aciduria presenting as febrile seizure. ( 25804013 )
2014
28
L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier. ( 24830757 )
2014
29
Writer's cramp as a presentation of L-2-hydroxyglutaric aciduria. ( 26788335 )
2014
30
Cerebral multicystic lesions in a child with L-2 hydroxyglutaric aciduria: a rare disease and a rare association. ( 24314673 )
2014
31
Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria. ( 24573090 )
2014
32
L-2 hydroxyglutaric aciduria presenting with status epilepticus. ( 23749865 )
2013
33
L-2-Hydroxyglutaric Aciduria: Report of Two Indian Families. ( 24037495 )
2013
34
A child with L-2 hydroxyglutaric aciduria presenting with dilated cardiomyopathy: Coincidence or a new syndrome? ( 24382499 )
2013
35
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. ( 23561848 )
2013
36
Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing. ( 24049096 )
2013
37
Contribution of brain MRI in a patient diagnosed with 2-hydroxyglutaric aciduria. ( 23784758 )
2013
38
L-2 hydroxyglutaric aciduria presenting with anxiety symptoms. ( 23749824 )
2013
39
L-2 hydroxyglutaric aciduria as a rare cause of leukencephalopathy in adults. ( 22840416 )
2013
40
A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria. ( 22834903 )
2012
41
Eyelid myoclonia with absence seizures in a child with l-2 hydroxyglutaric aciduria: findings of magnetic resonance imaging. ( 22353300 )
2012
42
Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients. ( 22639207 )
2012
43
L-2-hydroxyglutaric aciduria in two female Yorkshire terriers. ( 22843824 )
2012
44
Cerebral neoplasms in L-2 hydroxyglutaric aciduria: 3 new cases and meta-analysis of literature data. ( 22241392 )
2012
45
L-2-hydroxyglutaric aciduria diagnosed in a young adult with progressive cerebellar ataxia and facial dyskinesia. ( 22030381 )
2012
46
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). ( 22025298 )
2011
47
Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria. ( 21384162 )
2011
48
A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies. ( 21889589 )
2011
49
Clinical, genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria. ( 20859647 )
2011
50
L-2-hydroxyglutaric aciduria and brain tumors. ( 20421813 )
2010

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 matrix GO:0005759 9.26 D2HGDH GCDH IDH2 MDH2
2 mitochondrion GO:0005739 9.17 D2HGDH GCDH IDH1 IDH2 L2HGDH MDH2
3 peroxisome GO:0005777 9.16 IDH1 IDH2

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

# Name GO ID Score Top Affiliating Genes
1 gluconeogenesis GO:0006094 9.43 MDH2 SLC25A1
2 oxidation-reduction process GO:0055114 9.43 D2HGDH GCDH IDH1 IDH2 L2HGDH MDH2
3 fatty-acyl-CoA biosynthetic process GO:0046949 9.4 GCDH SLC25A1
4 NADP metabolic process GO:0006739 9.37 IDH1 IDH2
5 tricarboxylic acid cycle GO:0006099 9.33 IDH1 IDH2 MDH2
6 isocitrate metabolic process GO:0006102 9.32 IDH1 IDH2
7 glyoxylate cycle GO:0006097 9.26 IDH1 IDH2
8 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 (NADP+) activity GO:0004450 9.26 IDH1 IDH2
5 isocitrate dehydrogenase activity GO:0004448 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

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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
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34 ICD10 via Orphanet
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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