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L2HGA
MCID: L2H001
MIFTS: 49

L-2-Hydroxyglutaric Aciduria (L2HGA)

Categories: Cardiovascular diseases, Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for L-2-Hydroxyglutaric Aciduria

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MalaCards integrated aliases for L-2-Hydroxyglutaric Aciduria:

Name: L-2-Hydroxyglutaric Aciduria 57 12 53 59 74 37 29 13 6 15 72
L-2-Hydroxyglutaric Acidemia 57 12 53 59 74 72
L2hga 57 74
Combined D-2- and L-2-Hydroxyglutaric Aciduria 72
Aciduria, L-2-Hydroxyglutaric 40
L-2-Hga 59

Characteristics:

Orphanet epidemiological data:

59
l-2-hydroxyglutaric aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood


HPO:

32
l-2-hydroxyglutaric aciduria:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Mental diseases Eye diseases Nephrological diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0050574
OMIM 57 236792
KEGG 37 H01280
MeSH 44 D008661
ICD10 via Orphanet 34 E72.8
UMLS via Orphanet 73 C1855995 C3888081
Orphanet 59 ORPHA79314
MedGen 42 C1855995
UMLS 72 C1855995 C2746066 C3888081
Sources

Summaries for L-2-Hydroxyglutaric Aciduria

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NIH Rare Diseases : 53 L-2-hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition typically begin during infancy or early childhood and may include developmental delay, seizures, speech difficulties, macrocephaly and abnormalities in a part of the brain called the cerebellum, which is involved in coordinating movement (i.e. balance and muscle coordination). L-2-hydroxyglutaric aciduria is caused by changes (mutations) in the L2HGDH gene and is inherited in an autosomal recessive manner. Treatment is focused on alleviating the signs and symptoms of the condition, such as medications to control seizures.

MalaCards based summary : L-2-Hydroxyglutaric Aciduria, also known as l-2-hydroxyglutaric acidemia, is related to 2-hydroxyglutaric aciduria and d-2-hydroxyglutaric aciduria 1, and has symptoms including seizures, dyspnea and abnormality of extrapyramidal motor function. An important gene associated with L-2-Hydroxyglutaric Aciduria is L2HGDH (L-2-Hydroxyglutarate Dehydrogenase), and among its related pathways/superpathways are Butanoate metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include cerebellum, brain and liver, and related phenotypes are seizures and encephalitis

Disease Ontology : 12 An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).

KEGG : 37
L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive neurometabolic disorder characterized by progressive ataxia, mental deficiency with subcortical leukoencephalopathy, and cerebellar atrophy.

UniProtKB/Swiss-Prot : 74 L-2-hydroxyglutaric aciduria: A rare autosomal recessive disorder clinically characterized by mild psychomotor delay in the first years of life, followed by progressive cerebellar ataxia, dysarthria and moderate to severe mental retardation. Diagnosis is based on the presence of an excess of L-2- hydroxyglutaric acid in urine, blood and cerebrospinal fluid.

More information from OMIM: 236792
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Related Diseases for L-2-Hydroxyglutaric Aciduria

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

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

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

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 2-hydroxyglutaric aciduria 33.5 SLC25A1 MDH2 L2HGDH IDH2 IDH1
2 d-2-hydroxyglutaric aciduria 1 32.7 L2HGDH IDH2 IDH1 GSS
3 fibrillary astrocytoma 30.7 IDH2 IDH1
4 combined d-2- and l-2-hydroxyglutaric aciduria 13.0
5 ataxia and polyneuropathy, adult-onset 10.8
6 aceruloplasminemia 10.6
7 encephalopathy 10.6
8 neurometabolic disease 10.6
9 organic acidemia 10.5
10 tremor 10.5
11 interval angle-closure glaucoma 10.4 IDH2 IDH1
12 enchondroma 10.4 IDH2 IDH1
13 adult oligodendroglioma 10.4 IDH2 IDH1
14 intracranial chondrosarcoma 10.4 IDH2 IDH1
15 cytogenetically normal acute myeloid leukemia 10.4 IDH2 IDH1
16 chondroblastic osteosarcoma 10.4 IDH2 IDH1
17 intraductal papilloma 10.4 IDH2 IDH1
18 lactic acidosis 10.4
19 multiple enchondromatosis, maffucci type 10.4 IDH2 IDH1
20 spindle cell hemangioma 10.4 IDH2 IDH1
21 pilocytic astrocytoma of cerebellum 10.4 IDH2 IDH1
22 periosteal chondrosarcoma 10.3 IDH2 IDH1
23 glioma susceptibility 1 10.3 IDH2 IDH1
24 medulloblastoma 10.3
25 epilepsy 10.3
26 astrocytoma 10.3
27 dystonia 10.3
28 adult astrocytic tumour 10.3 IDH2 IDH1
29 diffuse infiltrative lymphocytosis syndrome 10.3 IDH2 IDH1
30 undifferentiated pleomorphic sarcoma 10.2 IDH2 IDH1
31 childhood oligodendroglioma 10.2 RBFOX3 IDH1
32 canavan disease 10.2
33 atrial standstill 1 10.1
34 migraine with or without aura 1 10.1
35 digeorge syndrome 10.1
36 von hippel-lindau syndrome 10.1
37 autism 10.1
38 cerebellar hypoplasia 10.1
39 hyperlysinemia, type i 10.1
40 kearns-sayre syndrome 10.1
41 wilms tumor 5 10.1
42 abdominal obesity-metabolic syndrome 1 10.1
43 alacrima, achalasia, and mental retardation syndrome 10.1
44 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
45 alcohol-related neurodevelopmental disorder 10.1
46 autosomal recessive disease 10.1
47 leukodystrophy 10.1
48 hemiplegia 10.1
49 chronic progressive external ophthalmoplegia 10.1
50 status epilepticus 10.1

Graphical network of the top 20 diseases related to L-2-Hydroxyglutaric Aciduria:



Diseases related to L-2-Hydroxyglutaric Aciduria
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Symptoms & Phenotypes for L-2-Hydroxyglutaric Aciduria

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Human phenotypes related to L-2-Hydroxyglutaric Aciduria:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 encephalitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002383
3 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
4 intellectual disability, progressive 59 32 hallmark (90%) Very frequent (99-80%) HP:0006887
5 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
6 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
7 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
8 aplasia/hypoplasia of the cerebellum 59 32 frequent (33%) Frequent (79-30%) HP:0007360
9 abnormality of extrapyramidal motor function 59 32 frequent (33%) Frequent (79-30%) HP:0002071
10 neoplasm of the nervous system 59 32 frequent (33%) Frequent (79-30%) HP:0004375
11 spastic tetraparesis 59 32 frequent (33%) Frequent (79-30%) HP:0001285
12 dysphasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002357
13 nystagmus 32 HP:0000639
14 developmental regression 32 HP:0002376
15 abnormal pyramidal sign 32 HP:0007256
16 hearing impairment 32 HP:0000365
17 optic atrophy 32 HP:0000648
18 strabismus 32 HP:0000486
19 cerebellar atrophy 32 HP:0001272
20 corpus callosum atrophy 32 HP:0007371
21 leukoencephalopathy 32 HP:0002352
22 gliosis 32 HP:0002171
23 global brain atrophy 32 HP:0002283
24 morphological abnormality of the pyramidal tract 32 HP:0002062
25 severe demyelination of the white matter 32 HP:0007258
26 l-2-hydroxyglutaric aciduria 32 HP:0040144
27 l-2-hydroxyglutaric acidemia 32 HP:0040147

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
optic atrophy
strabismus

Head And Neck Ears:
hearing loss

Neurologic Central Nervous System:
seizures
dysphasia
spastic tetraparesis
severe demyelination of the white matter
extrapyramidal signs
more
Laboratory Abnormalities:
increased l-2-hydroxyglutaric acid in urine, serum, and csf
increased lysine in serum and csf

Clinical features from OMIM:

236792

UMLS symptoms related to L-2-Hydroxyglutaric Aciduria:


seizures, dyspnea, abnormality of extrapyramidal motor function, stridor, abnormal pyramidal signs
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Drugs & Therapeutics for L-2-Hydroxyglutaric Aciduria

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Search Clinical Trials , NIH Clinical Center for L-2-Hydroxyglutaric Aciduria

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Genetic Tests for L-2-Hydroxyglutaric Aciduria

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Genetic tests related to L-2-Hydroxyglutaric Aciduria:

# Genetic test Affiliating Genes
1 L-2-Hydroxyglutaric Aciduria 29 L2HGDH
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Anatomical Context for L-2-Hydroxyglutaric Aciduria

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MalaCards organs/tissues related to L-2-Hydroxyglutaric Aciduria:

41
Cerebellum, Brain, Liver, Skeletal Muscle, Cortex, Thyroid
Sources

Publications for L-2-Hydroxyglutaric Aciduria

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Articles related to L-2-Hydroxyglutaric Aciduria:

(show top 50) (show all 162)
# Title Authors PMID Year
1
L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. 38 8 71
15385440 2004
2
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 8 71
21937992 2011
3
Identification of novel L2HGDH gene mutations and update of the pathological spectrum. 38 71
19911013 2010
4
Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review. 38 8
18931888 2009
5
L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. 38 8
17475916 2007
6
L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings. 38 8
15824270 2005
7
A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. 38 8
15548604 2004
8
L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family. 38 8
10399870 1999
9
L-2-hydroxyglutaric aciduria: three Australian cases. 38 8
7609437 1993
10
L-2-hydroxyglutaric aciduria: two further cases. 38 8
7609438 1993
11
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. 38 8
1642474 1992
12
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism? 38 8
6787330 1980
13
L2hgdh Deficiency Accumulates l-2-Hydroxyglutarate with Progressive Leukoencephalopathy and Neurodegeneration. 8
28137912 2017
14
Adult manifestation of L-2-hydroxyglutarate dehydrogenase deficiency by a novel mutation. 8
22459673 2012
15
Oxidative stress among L-2-hydroxyglutaric aciduria disease patients: evaluation of dynamic thiol/disulfide homeostasis. 38
30499066 2019
16
Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation. 38
29654543 2019
17
Teaching NeuroImages: Imaging in metabolic leukoencephalopathy, L-2-hydroxyglutaric aciduria. 38
30323080 2018
18
A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review. 38
29980873 2018
19
A Drosophila model of combined D-2- and L-2-hydroxyglutaric aciduria reveals a mechanism linking mitochondrial citrate export with oncometabolite accumulation. 38
30108060 2018
20
Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria. 38
30217188 2018
21
Flux analysis of inborn errors of metabolism. 38
29318410 2018
22
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. 38
29411290 2018
23
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. 38
29238895 2018
24
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report. 38
29458334 2018
25
A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion. 38
29226520 2018
26
Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome. 38
29265763 2018
27
Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis. 38
29031613 2018
28
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. 38
28396261 2017
29
Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk. 38
28620009 2017
30
An L-2-Hydroxyglutaric Aciduria Case Presented With Acute Bacterial Meningitis. 38
28141777 2017
31
[L-2-hydroxyglutaric aciduria caused by a new mutation in the L2HGDH gene]. 38
28617386 2017
32
Why is L-2 hydroxyglutaric aciduria relevant for a general practitioner? 38
27885126 2016
33
Clinical features and disease progression of L-2-hydroxyglutaric aciduria in 27 Staffordshire bull terriers. 38
27729589 2016
34
In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria. 38
27543339 2016
35
Inherited metabolic disorders in Turkish patients with autism spectrum disorders. 38
26055667 2016
36
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency. 38
27306203 2016
37
White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria. 38
25982940 2016
38
Gliomatosis cerebri in L-2-hydroxyglutaric aciduria. 38
25997888 2015
39
A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study. 38
26208971 2015
40
In vivo intracerebral administration of L-2-hydroxyglutaric acid provokes oxidative stress and histopathological alterations in striatum and cerebellum of adolescent rats. 38
25701435 2015
41
Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria. 38
25338511 2015
42
Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria. 38
25614306 2015
43
A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair. 38
25763823 2015
44
Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment. 38
24687295 2014
45
L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier. 38
24830757 2014
46
L-2-Hydroxyglutaric aciduria: a case report. 38
25033591 2014
47
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. 38
24573090 2014
48
Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds. 38
24894778 2014
49
L-2-hydroxyglutaric aciduria: report of two Indian families. 38
24037495 2014
50
A child with L-2 hydroxyglutaric aciduria presenting with dilated cardiomyopathy: coincidence or a new syndrome? 38
24382499 2014
Sources

Variations for L-2-Hydroxyglutaric Aciduria

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ClinVar genetic disease variations for L-2-Hydroxyglutaric Aciduria:

6 (show all 22)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 L2HGDH NM_024884.3(L2HGDH): c.256+1G> A single nucleotide variant Pathogenic rs150299874 14:50769619-50769619 14:50302901-50302901
2 L2HGDH NM_024884.3(L2HGDH): c.1015del (p.Arg339fs) deletion Pathogenic rs1555328749 14:50734520-50734520 14:50267802-50267802
3 L2HGDH NM_024884.3(L2HGDH): c.905C> T (p.Pro302Leu) single nucleotide variant Pathogenic rs118204020 14:50735882-50735882 14:50269164-50269164
4 L2HGDH NM_024884.3(L2HGDH): c.1115del (p.Met372fs) deletion Pathogenic rs786200869 14:50732157-50732157 14:50265439-50265439
5 L2HGDH NM_024884.3(L2HGDH): c.906+1G> T single nucleotide variant Pathogenic rs786200870 14:50735880-50735880 14:50269162-50269162
6 L2HGDH NM_024884.3(L2HGDH): c.164G> A (p.Gly55Asp) single nucleotide variant Pathogenic rs118204021 14:50769712-50769712 14:50302994-50302994
7 L2HGDH L2HGDH, EX1-9 DEL deletion Pathogenic
8 L2HGDH NM_024884.3(L2HGDH): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs387907013 14:50734532-50734532 14:50267814-50267814
9 L2HGDH NM_024884.3(L2HGDH): c.465del (p.Gly156fs) deletion Pathogenic rs797045678 14:50760908-50760908 14:50294190-50294190
10 L2HGDH NM_024884.3(L2HGDH): c.530del (p.Pro177fs) deletion Pathogenic 14:50760843-50760843 14:50294125-50294125
11 L2HGDH NM_024884.3(L2HGDH): c.208C> T (p.Arg70Ter) single nucleotide variant Pathogenic 14:50769668-50769668 14:50302950-50302950
12 L2HGDH NM_024884.3(L2HGDH): c.293A> G (p.His98Arg) single nucleotide variant Likely pathogenic rs267607206 14:50768850-50768850 14:50302132-50302132
13 L2HGDH NM_024884.3(L2HGDH): c.584A> G (p.Tyr195Cys) single nucleotide variant Likely pathogenic rs887386390 14:50750708-50750708 14:50283990-50283990
14 L2HGDH NM_024884.3(L2HGDH): c.1177A> G (p.Thr393Ala) single nucleotide variant Uncertain significance rs150157112 14:50732095-50732095 14:50265377-50265377
15 L2HGDH NM_024884.3(L2HGDH): c.1032T> G (p.Ser344Arg) single nucleotide variant Uncertain significance 14:50734503-50734503 14:50267785-50267785
16 L2HGDH NM_024884.3(L2HGDH): c.275A> G (p.His92Arg) single nucleotide variant Uncertain significance 14:50768868-50768868 14:50302150-50302150
17 L2HGDH NM_024884.3(L2HGDH): c.70C> T (p.Pro24Ser) single nucleotide variant Uncertain significance 14:50778799-50778799 14:50312081-50312081
18 L2HGDH NM_024884.3(L2HGDH): c.586C> T (p.Arg196Trp) single nucleotide variant Uncertain significance 14:50750706-50750706 14:50283988-50283988
19 L2HGDH NM_024884.3(L2HGDH): c.533A> T (p.Tyr178Phe) single nucleotide variant Uncertain significance 14:50760840-50760840 14:50294122-50294122
20 L2HGDH NM_024884.3(L2HGDH): c.627A> G (p.Ala209=) single nucleotide variant Uncertain significance rs564306903 14:50750665-50750665 14:50283947-50283947
21 L2HGDH NM_024884.3(L2HGDH): c.409-4G> T single nucleotide variant Likely benign rs767524925 14:50760968-50760968 14:50294250-50294250
22 L2HGDH NM_024884.3(L2HGDH): c.99G> T (p.Arg33Ser) single nucleotide variant Benign/Likely benign rs35710558 14:50778770-50778770 14:50312052-50312052

UniProtKB/Swiss-Prot genetic disease variations for L-2-Hydroxyglutaric Aciduria:

74
# Symbol AA change Variation ID SNP ID
1 L2HGDH p.Gly55Asp VAR_025682 rs118204021
2 L2HGDH p.Gly57Arg VAR_025683 rs199690954
3 L2HGDH p.Lys81Glu VAR_025684 rs970541687
4 L2HGDH p.His98Arg VAR_025685 rs267607206
5 L2HGDH p.His98Tyr VAR_025686
6 L2HGDH p.Glu176Asp VAR_025687
7 L2HGDH p.Pro302Leu VAR_025689 rs118204020
8 L2HGDH p.His434Pro VAR_025690 rs750044734

Sources

Expression for L-2-Hydroxyglutaric Aciduria

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Search GEO for disease gene expression data for L-2-Hydroxyglutaric Aciduria.
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Pathways for L-2-Hydroxyglutaric Aciduria

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Pathways related to L-2-Hydroxyglutaric Aciduria according to KEGG:

37
# Name Kegg Source Accession
1 Butanoate metabolism hsa00650

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

# Super pathways Score Top Affiliating Genes
1
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 66
Show member pathways
 12.81 SLC25A4 MT-CO1 MDH2 MAPK14 LDHC L2HGDH
2
Glucose / Energy Metabolism 4
12.16 MDH2 LDHC IDH2 IDH1
3
Sulfur amino acid metabolism 66
Show member pathways
 11.68 MDH2 LDHC GSS
4
Citrate cycle (TCA cycle) 37
Show member pathways
 11.51 MDH2 IDH2 IDH1
5
Amino Acid metabolism 1
11.29 MDH2 IDH1 GSS
6
Pyruvate metabolism and Citric Acid (TCA) cycle 66
Show member pathways
 11.04 MDH2 LDHC L2HGDH IDH2
7
Cytosine methylation 1
Show member pathways
 10.37 IDH2 IDH1
Sources

GO Terms for L-2-Hydroxyglutaric Aciduria

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Cellular components related to L-2-Hydroxyglutaric Aciduria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.35 SLC25A4 SLC25A1 MT-CO1 L2HGDH DMAC2L
2 mitochondrion GO:0005739 9.28 SLC25A4 SLC25A1 SCCPDH MT-CO1 MDH2 MAPK14

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

# Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 9.61 MT-CO1 IDH1 GSS
2 oxidation-reduction process GO:0055114 9.5 SCCPDH MT-CO1 MDH2 LDHC L2HGDH IDH2
3 tricarboxylic acid cycle GO:0006099 9.43 MDH2 IDH2 IDH1
4 carboxylic acid metabolic process GO:0019752 9.4 MDH2 LDHC
5 NADP metabolic process GO:0006739 9.37 IDH2 IDH1
6 isocitrate metabolic process GO:0006102 9.32 IDH2 IDH1
7 glyoxylate cycle GO:0006097 9.16 IDH2 IDH1
8 2-oxoglutarate metabolic process GO:0006103 8.8 L2HGDH IDH2 IDH1

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.5 SCCPDH MT-CO1 MDH2 LDHC L2HGDH IDH2
2 isocitrate dehydrogenase activity GO:0004448 9.26 IDH2 IDH1
3 isocitrate dehydrogenase (NADP+) activity GO:0004450 9.16 IDH2 IDH1
4 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 8.92 MDH2 LDHC IDH2 IDH1
Sources

Sources for L-2-Hydroxyglutaric Aciduria

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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