2-HGA
MCID: 2HY001
MIFTS: 38

2-Hydroxyglutaric Aciduria (2-HGA)

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

Aliases & Classifications for 2-Hydroxyglutaric Aciduria

MalaCards integrated aliases for 2-Hydroxyglutaric Aciduria:

Name: 2-Hydroxyglutaric Aciduria 12 20 43 58 15
Combined D-2- and L-2-Hydroxyglutaric Aciduria 70
2-Hydroxyglutaric Acidemia 58
2-Hydroxyglutaricaciduria 73
2-Hga 43

Characteristics:

Orphanet epidemiological data:

58
2-hydroxyglutaric aciduria
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0050573
ICD10 via Orphanet 33 E72.8
UMLS via Orphanet 71 C2746066
Orphanet 58 ORPHA19
UMLS 70 C2746066

Summaries for 2-Hydroxyglutaric Aciduria

MedlinePlus Genetics : 43 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 are 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. Researchers have described two subtypes of D-2-HGA, type I and type II. The two subtypes are distinguished by their genetic cause and pattern of inheritance, although they also have some differences in signs and symptoms. Type II tends to begin earlier and often causes more severe health problems than type I. Type II may also be associated with a weakened and enlarged heart (cardiomyopathy), a feature that is typically not found with type I.L-2-HGA particularly affects a region of the brain called the cerebellum, which is involved in coordinating movements. As a result, many affected individuals have problems with balance and muscle coordination (ataxia). Additional features of L-2-HGA can include delayed development, seizures, speech difficulties, and an unusually large head (macrocephaly). Typically, signs and symptoms of this disorder begin during infancy or early childhood. The disorder worsens over time, usually leading to severe disability by early adulthood.Combined D,L-2-HGA causes severe brain abnormalities that become apparent in early infancy. Affected infants have severe seizures, weak muscle tone (hypotonia), and breathing and feeding problems. They usually survive only into infancy or early childhood.

MalaCards based summary : 2-Hydroxyglutaric Aciduria, also known as combined d-2- and l-2-hydroxyglutaric aciduria, is related to combined d-2- and l-2-hydroxyglutaric aciduria and d-2-hydroxyglutaric aciduria 2, 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include brain, cerebellum and cortex.

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.

GARD : 20 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. There is no cure yet. Treatment depends on the symptoms. Management mainly involves control of seizures when they are present.

Wikipedia : 73 2-hydroxyglutaric aciduria is a rare neurometabolic disorder characterized by the significantly elevated... more...

Related Diseases for 2-Hydroxyglutaric Aciduria

Diseases in the D-2-Hydroxyglutaric Aciduria 1 family:

L-2-Hydroxyglutaric Aciduria D-2-Hydroxyglutaric Aciduria 2
2-Hydroxyglutaric Aciduria

Diseases related to 2-Hydroxyglutaric Aciduria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 combined d-2- and l-2-hydroxyglutaric aciduria 32.2 SLC25A1 MDH2 L2HGDH KDM4C IDH2 D2HGDH
2 d-2-hydroxyglutaric aciduria 2 31.8 L2HGDH IDH3G IDH2-DT IDH2 D2HGDH ADHFE1
3 l-2-hydroxyglutaric aciduria 31.5 SLC25A1 SCCPDH MDH2 L2HGDH KDM4C IDH2
4 d-2-hydroxyglutaric aciduria 1 30.6 SLC25A1 L2HGDH KDM4C IDH3G IDH3A IDH2
5 diffuse astrocytoma 30.2 KDM4C IDH2 IDH1
6 anaplastic astrocytoma 30.1 KDM4C IDH2 IDH1
7 malignant astrocytoma 30.0 KDM4C IDH2 IDH1
8 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria 11.7
9 ataxia and polyneuropathy, adult-onset 10.8
10 hypotonia 10.6
11 organic acidemia 10.6
12 tremor 10.6
13 neurometabolic disease 10.6
14 inherited metabolic disorder 10.5
15 encephalopathy 10.5
16 atrial standstill 1 10.4
17 yemenite deaf-blind hypopigmentation syndrome 10.4
18 cortical blindness 10.4
19 dystonia 10.4
20 seizure disorder 10.4
21 enchondroma 10.3 IDH2 IDH1
22 lactic acidosis 10.3
23 adult brain stem glioma 10.3 IDH2 IDH1
24 cytogenetically normal acute myeloid leukemia 10.3 IDH2 IDH1
25 periosteal chondrosarcoma 10.3 IDH2 IDH1
26 adult oligodendroglioma 10.3 IDH2 IDH1
27 childhood oligodendroglioma 10.3 IDH2 IDH1
28 gemistocytic astrocytoma 10.3 IDH2 IDH1
29 adult astrocytic tumour 10.3 IDH2 IDH1
30 mixed oligodendroglioma-astrocytoma 10.3 IDH2 IDH1
31 mixed glioma 10.3 IDH2 IDH1
32 low grade glioma 10.3 IDH2 IDH1
33 spindle cell hemangioma 10.2 IDH2 IDH1
34 glioma susceptibility 1 10.2
35 medulloblastoma 10.2
36 alacrima, achalasia, and mental retardation syndrome 10.2
37 autosomal recessive disease 10.2
38 parkinsonism 10.2
39 leukodystrophy 10.2
40 dilated cardiomyopathy 10.2
41 status epilepticus 10.2
42 epilepsy 10.2
43 myopathy 10.2
44 cerebral organic aciduria 10.2
45 chondroblastic osteosarcoma 10.2 L2HGDH IDH2 IDH1
46 fumarase deficiency 10.2 L2HGDH D2HGDH
47 brain stem cancer 10.1 KDM4C IDH1
48 canavan disease 10.1
49 migraine with or without aura 1 10.1
50 digeorge syndrome 10.1

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:

40
Brain, Cerebellum, Cortex, Skeletal Muscle, Thyroid, Myeloid

Publications for 2-Hydroxyglutaric Aciduria

Articles related to 2-Hydroxyglutaric Aciduria:

(show top 50) (show all 234)
# Title Authors PMID Year
1
Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduria. 61
33728243 2021
2
Structure, substrate specificity, and catalytic mechanism of human D-2-HGDH and insights into pathogenicity of disease-associated mutations. 61
33431826 2021
3
[Congenital myasthenic syndrome related to SLC25A1 gene variant: two cases report and literature review]. 61
33397003 2021
4
The Wide Phenotypic Spectrum of L-2 Hydroxyglutaric Aciduria in Adults. 61
33163579 2020
5
Seizures and early onset dementia: D2HGA1 inborn error of metabolism in adults. 61
32857435 2020
6
IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria. 61
32166993 2020
7
A Case Report of Chronic Progressive Pancerebellar Syndrome with Leukoencephalopathy:L-2 Hydroxyglutaric Aciduria. 61
32626804 2020
8
A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants. 61
32660532 2020
9
[A pedigree of L-2-hydroxyglutaric aciduria including 3 patients caused by homozygous L2HGDH variant]. 61
32619268 2020
10
Cerebral neoplasm in L-2-hydroxyglutaric aciduria: two different presentations. 61
31858216 2020
11
Classic Imaging Features of L-2-Hydroxyglutaric Aciduria in Young Adult Presenting as Seizures Associated with Fever. 61
32606526 2020
12
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review. 61
32340404 2020
13
Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population. 61
33042236 2020
14
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant. 61
31527857 2020
15
Inborn errors of metabolite repair. 61
31691304 2020
16
Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria. 61
33061758 2020
17
A 7-year-old Boy with Hand Tremors and a Novel Mutation for L-2-hydroxyglutaric Aciduria. 61
31942424 2019
18
D-2-Hydroxyglutaric Aciduria with Enchondromatosis and Angiokeratoma Circumscriptum. 61
31890366 2019
19
Biochemical characterization of human D-2-hydroxyglutarate dehydrogenase and two disease related variants reveals the molecular cause of D-2-hydroxyglutaric aciduria. 61
31349060 2019
20
D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene. 61
31431883 2019
21
D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants. 61
30908763 2019
22
Oxidative stress among L-2-hydroxyglutaric aciduria disease patients: evaluation of dynamic thiol/disulfide homeostasis. 61
30499066 2019
23
Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation. 61
29654543 2019
24
2-Hydroxyglutaric aciduria as a cause for seizure-like episodes in a domestic shorthair cat. 61
31245020 2019
25
Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria. 61
29744569 2018
26
Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2. 61
29987523 2018
27
A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review. 61
29980873 2018
28
Teaching NeuroImages: Imaging in metabolic leukoencephalopathy, L-2-hydroxyglutaric aciduria. 61
30323080 2018
29
A Drosophila model of combined D-2- and L-2-hydroxyglutaric aciduria reveals a mechanism linking mitochondrial citrate export with oncometabolite accumulation. 61
30108060 2018
30
Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria. 61
30217188 2018
31
Flux analysis of inborn errors of metabolism. 61
29318410 2018
32
Experimental Evidence that In Vivo Intracerebral Administration of L-2-Hydroxyglutaric Acid to Neonatal Rats Provokes Disruption of Redox Status and Histopathological Abnormalities in the Brain. 61
29411290 2018
33
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. 61
29238895 2018
34
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report. 61
29458334 2018
35
A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion. 61
29226520 2018
36
Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome. 61
29265763 2018
37
Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis. 61
29031613 2018
38
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. 61
28396261 2017
39
Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk. 61
28620009 2017
40
An L-2-Hydroxyglutaric Aciduria Case Presented With Acute Bacterial Meningitis. 61
28141777 2017
41
[L-2-hydroxyglutaric aciduria caused by a new mutation in the L2HGDH gene]. 61
28617386 2017
42
Clinical features and disease progression of L-2-hydroxyglutaric aciduria in 27 Staffordshire bull terriers. 61
27729589 2016
43
Why is L-2 hydroxyglutaric aciduria relevant for a general practitioner? 61
27885126 2016
44
A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model. 61
27469509 2016
45
In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria. 61
27543339 2016
46
Chiral separation of 2-hydroxyglutaric acid on cinchonan carbamate based weak chiral anion exchangers by high-performance liquid chromatography. 61
27234847 2016
47
[Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria]. 61
26829733 2016
48
Inherited metabolic disorders in Turkish patients with autism spectrum disorders. 61
26055667 2016
49
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency. 61
27306203 2016
50
White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria. 61
25982940 2016

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
13.72 SLC25A1 PHGDH MDH2 L2HGDH IDH3G IDH3A
2
Show member pathways
13.06 MDH2 L2HGDH IDH3G IDH3A IDH2 DMAC2L
3 12.2 PHGDH MDH2 IDH2 IDH1
4
Show member pathways
11.76 PHGDH MDH2 IDH3G IDH3A IDH2 IDH1
5
Show member pathways
11.57 MDH2 IDH3G IDH3A IDH2 IDH1
6
Show member pathways
11.28 MDH2 L2HGDH IDH3G IDH3A IDH2 D2HGDH
7
Show member pathways
10.48 IDH2 IDH1

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 9.56 MDH2 IDH3G IDH3A IDH2 GCDH D2HGDH
2 mitochondrion GO:0005739 9.44 SLC25A1 SCCPDH MDH2 L2HGDH IDH3G IDH3A

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.71 MDH2 IDH3G IDH3A IDH2
2 tricarboxylic acid cycle GO:0006099 9.65 MDH2 IDH3G IDH3A IDH2 IDH1
3 fatty-acyl-CoA biosynthetic process GO:0046949 9.46 SLC25A1 GCDH
4 isocitrate metabolic process GO:0006102 9.46 IDH3G IDH3A IDH2 IDH1
5 oxidation-reduction process GO:0055114 9.44 SCCPDH PHGDH MDH2 L2HGDH KDM4C IDH3G
6 NADP metabolic process GO:0006739 9.43 IDH2 IDH1
7 gamma-aminobutyric acid metabolic process GO:0009448 9.37 PHGDH ALDH5A1
8 2-oxoglutarate metabolic process GO:0006103 9.35 L2HGDH IDH2 IDH1 D2HGDH ADHFE1
9 glyoxylate cycle GO:0006097 9.32 IDH2 IDH1

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

# Name GO ID Score Top Affiliating Genes
1 magnesium ion binding GO:0000287 9.73 IDH3G IDH3A IDH2 IDH1
2 NAD binding GO:0051287 9.55 PHGDH IDH3G IDH3A IDH2 IDH1
3 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.43 PHGDH MDH2 IDH3G IDH3A IDH2 IDH1
4 L-malate dehydrogenase activity GO:0030060 9.4 PHGDH MDH2
5 oxidoreductase activity GO:0016491 9.4 SCCPDH PHGDH MDH2 L2HGDH KDM4C IDH3A
6 isocitrate dehydrogenase (NAD+) activity GO:0004449 9.37 IDH3G IDH3A
7 isocitrate dehydrogenase (NADP+) activity GO:0004450 9.32 IDH2 IDH1
8 isocitrate dehydrogenase activity GO:0004448 9.26 IDH2 IDH1

Sources for 2-Hydroxyglutaric Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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