2-HGA
MCID: 2HY001
MIFTS: 38

2-Hydroxyglutaric Aciduria (2-HGA)

Categories: Cardiovascular diseases, Eye diseases, Genetic diseases, Mental 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 52 25 58 15
Combined D-2- and L-2-Hydroxyglutaric Aciduria 71
2-Hydroxyglutaric Acidemia 58
2-Hydroxyglutaricaciduria 74
2-Hga 25

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 72 C2746066
Orphanet 58 ORPHA19
UMLS 71 C2746066

Summaries for 2-Hydroxyglutaric Aciduria

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). 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 l-2-hydroxyglutaric aciduria, 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 heart.

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.

NIH Rare Diseases : 52 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 : 74 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 53)
# Related Disease Score Top Affiliating Genes
1 combined d-2- and l-2-hydroxyglutaric aciduria 31.6 SLC25A1 MDH2 L2HGDH KDM4C IDH2 D2HGDH
2 l-2-hydroxyglutaric aciduria 31.6 SLC25A1 MDH2 L2HGDH KDM4C IDH2 IDH1
3 d-2-hydroxyglutaric aciduria 1 28.2 SLC25A1 L2HGDH KDM4C IDH3G IDH3B IDH3A
4 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria 11.5
5 enchondroma 10.4 IDH2 IDH1
6 breast intraductal papillomatosis 10.4 IDH2 IDH1
7 intraductal papilloma 10.4 IDH2 IDH1
8 breast duct papilloma 10.4 IDH2 IDH1
9 breast papillomatosis 10.4 IDH2 IDH1
10 adult brain stem glioma 10.4 IDH2 IDH1
11 cytogenetically normal acute myeloid leukemia 10.4 IDH2 IDH1
12 periosteal chondrosarcoma 10.4 IDH2 IDH1
13 breast hemangioma 10.4 IDH2 IDH1
14 adult oligodendroglioma 10.4 IDH2 IDH1
15 childhood oligodendroglioma 10.4 IDH2 IDH1
16 interval angle-closure glaucoma 10.4 IDH2 IDH1
17 gemistocytic astrocytoma 10.4 IDH2 IDH1
18 adult astrocytic tumour 10.3 IDH2 IDH1
19 chondroblastic osteosarcoma 10.3 IDH2 IDH1
20 inherited metabolic disorder 10.3
21 intraductal breast benign neoplasm 10.3 IDH2 IDH1
22 mixed oligodendroglioma-astrocytoma 10.3 IDH2 IDH1
23 mixed glioma 10.3 IDH2 IDH1
24 glutaric acidemia i 10.3 L2HGDH GCDH
25 spindle cell hemangioma 10.2 IDH2 IDH1
26 maple syrup urine disease 10.2
27 dystonia 10.2
28 encephalopathy 10.2
29 tremor 10.2
30 fibrillary astrocytoma 10.1 KDM4C IDH2 IDH1
31 enchondromatosis, multiple, ollier type 10.1 KDM4C IDH2 IDH1
32 brain stem glioma 10.1 KDM4C IDH2 IDH1
33 brain glioma 10.1 KDM4C IDH2 IDH1
34 intracranial chondrosarcoma 10.1 IDH2 IDH1 ADHFE1
35 bile duct adenocarcinoma 10.1 KDM4C IDH2 IDH1
36 bone sarcoma 10.1 KDM4C IDH2 IDH1
37 grade iii astrocytoma 10.1 KDM4C IDH2 IDH1
38 dysembryoplastic neuroepithelial tumor 10.0 KDM4C IDH1
39 fumarase deficiency 10.0 FH D2HGDH
40 spinal disease 10.0 KDM4C IDH2 IDH1
41 polycythemia vera 10.0 KDM4C IDH2 IDH1
42 persistent generalized lymphadenopathy 10.0 MDH2 FH
43 central nervous system cancer 10.0 KDM4C IDH2 IDH1
44 paraganglioma 9.9 MDH2 IDH2 FH
45 inhibited female orgasm 9.9 IDH3G IDH3A
46 brain stem cancer 9.9 KDM4C IDH1
47 infantile cerebellar-retinal degeneration 9.9 SLC25A1 MDH2 L2HGDH IDH3A
48 amino acid metabolic disorder 9.8 L2HGDH KDM4C GCDH ALDH5A1
49 connective tissue cancer 9.8 KDM4C IDH2 IDH1
50 gliomatosis cerebri 9.8 KDM4C IDH1

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, Heart, Cortex, Skeletal Muscle, Liver, Thyroid

Publications for 2-Hydroxyglutaric Aciduria

Articles related to 2-Hydroxyglutaric Aciduria:

(show top 50) (show all 223)
# Title Authors PMID Year
1
Cerebral neoplasm in L-2-hydroxyglutaric aciduria: two different presentations. 61
31858216 2020
2
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review. 61
32340404 2020
3
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant. 61
31527857 2020
4
IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria. 61
32166993 2020
5
Inborn errors of metabolite repair. 61
31691304 2020
6
A 7-year-old Boy with Hand Tremors and a Novel Mutation for L-2-hydroxyglutaric Aciduria. 61
31942424 2019
7
D-2-Hydroxyglutaric Aciduria with Enchondromatosis and Angiokeratoma Circumscriptum. 61
31890366 2019
8
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
9
D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene. 61
31431883 2019
10
D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants. 61
30908763 2019
11
Oxidative stress among L-2-hydroxyglutaric aciduria disease patients: evaluation of dynamic thiol/disulfide homeostasis. 61
30499066 2019
12
Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation. 61
29654543 2019
13
2-Hydroxyglutaric aciduria as a cause for seizure-like episodes in a domestic shorthair cat. 61
31245020 2019
14
Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria. 61
29744569 2018
15
Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2. 61
29987523 2018
16
Teaching NeuroImages: Imaging in metabolic leukoencephalopathy, L-2-hydroxyglutaric aciduria. 61
30323080 2018
17
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
18
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
19
Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria. 61
30217188 2018
20
Flux analysis of inborn errors of metabolism. 61
29318410 2018
21
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
22
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. 61
29238895 2018
23
Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome. 61
29265763 2018
24
A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion. 61
29226520 2018
25
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report. 61
29458334 2018
26
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
27
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
28
Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk. 61
28620009 2017
29
An L-2-Hydroxyglutaric Aciduria Case Presented With Acute Bacterial Meningitis. 61
28141777 2017
30
[L-2-hydroxyglutaric aciduria caused by a new mutation in the L2HGDH gene]. 61
28617386 2017
31
Clinical features and disease progression of L-2-hydroxyglutaric aciduria in 27 Staffordshire bull terriers. 61
27729589 2016
32
Why is L-2 hydroxyglutaric aciduria relevant for a general practitioner? 61
27885126 2016
33
A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model. 61
27469509 2016
34
In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria. 61
27543339 2016
35
Chiral separation of 2-hydroxyglutaric acid on cinchonan carbamate based weak chiral anion exchangers by high-performance liquid chromatography. 61
27234847 2016
36
[Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria]. 61
26829733 2016
37
Inherited metabolic disorders in Turkish patients with autism spectrum disorders. 61
26055667 2016
38
White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria. 61
25982940 2016
39
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency. 61
27306203 2016
40
Gliomatosis cerebri in L-2-hydroxyglutaric aciduria. 61
25997888 2015
41
A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study. 61
26208971 2015
42
In vivo intracerebral administration of L-2-hydroxyglutaric acid provokes oxidative stress and histopathological alterations in striatum and cerebellum of adolescent rats. 61
25701435 2015
43
Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria. 61
25338511 2015
44
A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair. 61
25763823 2015
45
Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria. 61
25614306 2015
46
The driver and passenger effects of isocitrate dehydrogenase 1 and 2 mutations in oncogenesis and survival prolongation. 61
24880135 2014
47
Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment. 61
24687295 2014
48
Disruption of redox homeostasis and histopathological alterations caused by in vivo intrastriatal administration of D-2-hydroxyglutaric acid to young rats. 61
25043325 2014
49
L-2-Hydroxyglutaric aciduria: a case report. 61
25033591 2014
50
L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier. 61
24830757 2014

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
13.85 SLC25A1 PHGDH MDH2 L2HGDH IDH3G IDH3B
2
Show member pathways
13.02 MDH2 L2HGDH IDH3G IDH3B IDH3A IDH2
3 12.26 PHGDH MDH2 IDH2 IDH1 FH
4
Show member pathways
12.08 PHGDH MDH2 IDH3G IDH3B IDH3A IDH2
5 11.54 MDH2 IDH1 FH
6
Show member pathways
11.51 MDH2 IDH3G IDH3B IDH3A IDH2 IDH1
7
Show member pathways
11.39 MDH2 L2HGDH IDH3G IDH3B IDH3A IDH2
8
Show member pathways
10.55 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 mitochondrion GO:0005739 9.8 SLC25A1 MDH2 L2HGDH IDH3G IDH3B IDH3A
2 mitochondrial matrix GO:0005759 9.32 MDH2 IDH3G IDH3B IDH3A IDH2 GCDH

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.73 MDH2 IDH3G IDH3A IDH2
2 isocitrate metabolic process GO:0006102 9.65 IDH3G IDH3B IDH3A IDH2 IDH1
3 2-oxoglutarate metabolic process GO:0006103 9.63 L2HGDH IDH3B IDH2 IDH1 D2HGDH ADHFE1
4 tricarboxylic acid cycle GO:0006099 9.5 MDH2 IDH3G IDH3B IDH3A IDH2 IDH1
5 fatty-acyl-CoA biosynthetic process GO:0046949 9.49 SLC25A1 GCDH
6 NADH metabolic process GO:0006734 9.48 MDH2 IDH3B
7 NADP metabolic process GO:0006739 9.46 IDH2 IDH1
8 oxidation-reduction process GO:0055114 9.44 PHGDH MDH2 L2HGDH KDM4C IDH3G IDH3B
9 malate metabolic process GO:0006108 9.4 MDH2 FH
10 gamma-aminobutyric acid metabolic process GO:0009448 9.37 PHGDH ALDH5A1
11 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 9.72 IDH3G IDH3B IDH3A IDH2 IDH1
2 oxidoreductase activity GO:0016491 9.7 PHGDH MDH2 L2HGDH KDM4C IDH3A IDH2
3 NAD binding GO:0051287 9.63 PHGDH IDH3G IDH3B IDH3A IDH2 IDH1
4 L-malate dehydrogenase activity GO:0030060 9.43 PHGDH MDH2
5 isocitrate dehydrogenase (NAD+) activity GO:0004449 9.43 IDH3G IDH3B IDH3A
6 isocitrate dehydrogenase (NADP+) activity GO:0004450 9.4 IDH2 IDH1
7 isocitrate dehydrogenase activity GO:0004448 9.37 IDH2 IDH1
8 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.17 PHGDH MDH2 IDH3G IDH3B IDH3A IDH2

Sources for 2-Hydroxyglutaric Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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