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L2HGA
MCID: L2H001
MIFTS: 49

L-2-Hydroxyglutaric Aciduria (L2HGA)

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Muscle 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 20 58 73 36 29 13 6 15 71
L-2-Hydroxyglutaric Acidemia 57 12 20 58 73 71
L2hga 57 73
Combined D-2- and L-2-Hydroxyglutaric Aciduria 71
Aciduria, L-2-Hydroxyglutaric 39
L-2-Hga 58

Characteristics:

Orphanet epidemiological data:

58
l-2-hydroxyglutaric aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood


HPO:

31
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 Muscle diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Sources

Summaries for L-2-Hydroxyglutaric Aciduria

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GARD : 20 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 combined d-2- and l-2-hydroxyglutaric aciduria and 2-hydroxyglutaric aciduria, 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 Metabolism. Affiliated tissues include cerebellum, brain and liver, and related phenotypes are encephalitis and intellectual disability, severe

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 : 36 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 : 73 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
Sources

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 96)
# Related Disease Score Top Affiliating Genes
1 combined d-2- and l-2-hydroxyglutaric aciduria 32.8 SLC25A1 MDH2 L2HGDH KDM4C IDH2 D2HGDH
2 2-hydroxyglutaric aciduria 31.2 SLC25A1 SCCPDH MDH2 L2HGDH KDM4C IDH2
3 d-2-hydroxyglutaric aciduria 1 30.8 SLC25A1 L2HGDH KDM4C IDH2 IDH1 GCDH
4 malignant astrocytoma 30.4 KDM4C IDH2 IDH1
5 diffuse astrocytoma 30.3 KDM4C IDH2 IDH1
6 anaplastic astrocytoma 30.2 KDM4C IDH2 IDH1
7 ataxia and polyneuropathy, adult-onset 10.9
8 tremor 10.6
9 neurometabolic disease 10.6
10 organic acidemia 10.6
11 inherited metabolic disorder 10.5
12 encephalopathy 10.5
13 lactic acidosis 10.4
14 dystonia 10.4
15 atrial standstill 1 10.3
16 glioma susceptibility 1 10.3
17 medulloblastoma 10.3
18 alacrima, achalasia, and mental retardation syndrome 10.3
19 leukodystrophy 10.3
20 status epilepticus 10.3
21 seizure disorder 10.3
22 enchondroma 10.2 IDH2 IDH1
23 adult brain stem glioma 10.2 IDH2 IDH1
24 cytogenetically normal acute myeloid leukemia 10.2 IDH2 IDH1
25 periosteal chondrosarcoma 10.2 IDH2 IDH1
26 adult oligodendroglioma 10.2 IDH2 IDH1
27 childhood oligodendroglioma 10.2 IDH2 IDH1
28 gemistocytic astrocytoma 10.2 IDH2 IDH1
29 infantile cerebellar-retinal degeneration 10.2 SLC25A1 MDH2 L2HGDH
30 adult astrocytic tumour 10.2 IDH2 IDH1
31 mixed oligodendroglioma-astrocytoma 10.2 IDH2 IDH1
32 canavan disease 10.2
33 mixed glioma 10.2 IDH2 IDH1
34 low grade glioma 10.2 IDH2 IDH1
35 migraine with or without aura 1 10.2
36 digeorge syndrome 10.2
37 von hippel-lindau syndrome 10.2
38 hyperlysinemia, type i 10.2
39 kearns-sayre syndrome 10.2
40 abdominal obesity-metabolic syndrome 1 10.2
41 anxiety 10.2
42 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.2
43 alcohol-related neurodevelopmental disorder 10.2
44 autosomal recessive disease 10.2
45 autism spectrum disorder 10.2
46 cerebellar hypoplasia 10.2
47 mild cognitive impairment 10.2
48 parkinsonism 10.2
49 hemiplegia 10.2
50 hypertrophic cardiomyopathy 10.2

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



Diseases related to L-2-Hydroxyglutaric Aciduria
Sources

Symptoms & Phenotypes for L-2-Hydroxyglutaric Aciduria

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Human phenotypes related to L-2-Hydroxyglutaric Aciduria:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 encephalitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002383
2 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
3 intellectual disability, progressive 58 31 hallmark (90%) Very frequent (99-80%) HP:0006887
4 seizure 31 hallmark (90%) HP:0001250
5 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
6 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
7 aplasia/hypoplasia of the cerebellum 58 31 frequent (33%) Frequent (79-30%) HP:0007360
8 abnormality of extrapyramidal motor function 58 31 frequent (33%) Frequent (79-30%) HP:0002071
9 neoplasm of the nervous system 58 31 frequent (33%) Frequent (79-30%) HP:0004375
10 spastic tetraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001285
11 hypotonia 31 frequent (33%) HP:0001252
12 dysphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002357
13 seizures 58 Very frequent (99-80%)
14 abnormal pyramidal sign 31 HP:0007256
15 nystagmus 31 HP:0000639
16 muscular hypotonia 58 Frequent (79-30%)
17 developmental regression 31 HP:0002376
18 hearing impairment 31 HP:0000365
19 optic atrophy 31 HP:0000648
20 strabismus 31 HP:0000486
21 leukoencephalopathy 31 HP:0002352
22 cerebellar atrophy 31 HP:0001272
23 corpus callosum atrophy 31 HP:0007371
24 gliosis 31 HP:0002171
25 global brain atrophy 31 HP:0002283
26 morphological abnormality of the pyramidal tract 31 HP:0002062
27 severe demyelination of the white matter 31 HP:0007258
28 l-2-hydroxyglutaric aciduria 31 HP:0040144
29 l-2-hydroxyglutaric acidemia 31 HP:0040147

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
dysphasia
spastic tetraparesis
severe demyelination of the white matter
extrapyramidal signs
more
Head And Neck Ears:
hearing loss

Head And Neck Eyes:
nystagmus
optic atrophy
strabismus

Laboratory Abnormalities:
increased l-2-hydroxyglutaric acid in urine, serum, and csf
increased lysine in serum and csf

Clinical features from OMIM®:

236792 (Updated 05-Mar-2021)

UMLS symptoms related to L-2-Hydroxyglutaric Aciduria:


seizures, dyspnea, abnormality of extrapyramidal motor function, stridor, abnormal pyramidal signs
Sources

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
Sources

Anatomical Context for L-2-Hydroxyglutaric Aciduria

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

40
Cerebellum, Brain, Liver, Cortex, Skeletal Muscle, Thyroid
Sources

Publications for L-2-Hydroxyglutaric Aciduria

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Articles related to L-2-Hydroxyglutaric Aciduria:

(show top 50) (show all 172)
# Title Authors PMID Year
1
L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. 61 57 6
15385440 2004
2
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 6 57
21937992 2011
3
Identification of novel L2HGDH gene mutations and update of the pathological spectrum. 6 61
19911013 2010
4
Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review. 61 57
18931888 2009
5
L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. 61 57
17475916 2007
6
L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings. 61 57
15824270 2005
7
A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. 61 57
15548604 2004
8
L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family. 57 61
10399870 1999
9
L-2-hydroxyglutaric aciduria: three Australian cases. 61 57
7609437 1993
10
L-2-hydroxyglutaric aciduria: two further cases. 57 61
7609438 1993
11
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. 61 57
1642474 1992
12
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism? 57 61
6787330 1980
13
L2hgdh Deficiency Accumulates l-2-Hydroxyglutarate with Progressive Leukoencephalopathy and Neurodegeneration. 57
28137912 2017
14
Adult manifestation of L-2-hydroxyglutarate dehydrogenase deficiency by a novel mutation. 57
22459673 2012
15
The Wide Phenotypic Spectrum of L-2 Hydroxyglutaric Aciduria in Adults. 61
33163579 2020
16
[A pedigree of L-2-hydroxyglutaric aciduria including 3 patients caused by homozygous L2HGDH variant]. 61
32619268 2020
17
Cerebral neoplasm in L-2-hydroxyglutaric aciduria: two different presentations. 61
31858216 2020
18
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
19
Classic Imaging Features of L-2-Hydroxyglutaric Aciduria in Young Adult Presenting as Seizures Associated with Fever. 61
32606526 2020
20
Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population. 61
33042236 2020
21
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review. 61
32340404 2020
22
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant. 61
31527857 2020
23
Inborn errors of metabolite repair. 61
31691304 2020
24
Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria. 61
33061758 2020
25
A 7-year-old Boy with Hand Tremors and a Novel Mutation for L-2-hydroxyglutaric Aciduria. 61
31942424 2019
26
Oxidative stress among L-2-hydroxyglutaric aciduria disease patients: evaluation of dynamic thiol/disulfide homeostasis. 61
30499066 2019
27
Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation. 61
29654543 2019
28
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
29
Teaching NeuroImages: Imaging in metabolic leukoencephalopathy, L-2-hydroxyglutaric aciduria. 61
30323080 2018
30
Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria. 61
30217188 2018
31
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
32
Flux analysis of inborn errors of metabolism. 61
29318410 2018
33
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
34
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. 61
29238895 2018
35
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report. 61
29458334 2018
36
A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion. 61
29226520 2018
37
Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome. 61
29265763 2018
38
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
39
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
40
Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk. 61
28620009 2017
41
An L-2-Hydroxyglutaric Aciduria Case Presented With Acute Bacterial Meningitis. 61
28141777 2017
42
[L-2-hydroxyglutaric aciduria caused by a new mutation in the L2HGDH gene]. 61
28617386 2017
43
Clinical features and disease progression of L-2-hydroxyglutaric aciduria in 27 Staffordshire bull terriers. 61
27729589 2016
44
Why is L-2 hydroxyglutaric aciduria relevant for a general practitioner? 61
27885126 2016
45
In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria. 61
27543339 2016
46
Inherited metabolic disorders in Turkish patients with autism spectrum disorders. 61
26055667 2016
47
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency. 61
27306203 2016
48
White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria. 61
25982940 2016
49
Gliomatosis cerebri in L-2-hydroxyglutaric aciduria. 61
25997888 2015
50
A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study. 61
26208971 2015
Sources

Variations for L-2-Hydroxyglutaric Aciduria

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

6 (show all 44)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 L2HGDH NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu) SNV Pathogenic 1607 rs118204020 14:50735882-50735882 14:50269164-50269164
2 L2HGDH NM_024884.3(L2HGDH):c.1115del (p.Met372fs) Deletion Pathogenic 1608 rs786200869 14:50732157-50732157 14:50265439-50265439
3 L2HGDH NM_024884.3(L2HGDH):c.906+1G>T SNV Pathogenic 1609 rs786200870 14:50735880-50735880 14:50269162-50269162
4 L2HGDH NM_024884.3(L2HGDH):c.164G>A (p.Gly55Asp) SNV Pathogenic 1610 rs118204021 14:50769712-50769712 14:50302994-50302994
5 L2HGDH L2HGDH, EX1-9DEL Deletion Pathogenic 1611 14:50000000-50247254
6 L2HGDH NM_024884.3(L2HGDH):c.293A>G (p.His98Arg) SNV Pathogenic 1612 rs267607206 14:50768850-50768850 14:50302132-50302132
7 L2HGDH NM_024884.3(L2HGDH):c.1003C>T (p.Arg335Ter) SNV Pathogenic 30793 rs387907013 14:50734532-50734532 14:50267814-50267814
8 L2HGDH NM_024884.3(L2HGDH):c.208C>T (p.Arg70Ter) SNV Pathogenic 580563 rs937345512 14:50769668-50769668 14:50302950-50302950
9 L2HGDH NM_024884.3(L2HGDH):c.256+1G>A SNV Pathogenic 379781 rs150299874 14:50769619-50769619 14:50302901-50302901
10 L2HGDH NM_024884.3(L2HGDH):c.1015del (p.Arg339fs) Deletion Pathogenic 435701 rs1555328749 14:50734520-50734520 14:50267802-50267802
11 L2HGDH NM_024884.3(L2HGDH):c.530del (p.Pro177fs) Deletion Pathogenic 567343 rs766538932 14:50760843-50760843 14:50294125-50294125
12 L2HGDH NC_000014.9:g.(?_50267733)_(50269350_?)del Deletion Pathogenic 831656 14:50734451-50736068
13 L2HGDH NM_024884.3(L2HGDH):c.465del (p.Gly156fs) Deletion Pathogenic 211348 rs797045678 14:50760908-50760908 14:50294190-50294190
14 L2HGDH NM_024884.3(L2HGDH):c.829C>T (p.Arg277Ter) SNV Pathogenic 863865 14:50735958-50735958 14:50269240-50269240
15 L2HGDH NM_024884.3(L2HGDH):c.709C>T (p.Gln237Ter) SNV Pathogenic 931549 14:50745267-50745267 14:50278549-50278549
16 L2HGDH NM_024884.3(L2HGDH):c.408+1G>C SNV Pathogenic 873014
17 L2HGDH NM_024884.3(L2HGDH):c.1065-13_1196+207del Deletion Pathogenic 973586 14:50731869-50732220 14:50265151-50265502
18 L2HGDH NM_024884.3(L2HGDH):c.584A>G (p.Tyr195Cys) SNV Likely pathogenic 435700 rs887386390 14:50750708-50750708 14:50283990-50283990
19 L2HGDH NM_024884.3(L2HGDH):c.845G>A (p.Arg282Gln) SNV Uncertain significance 841222 14:50735942-50735942 14:50269224-50269224
20 L2HGDH NM_024884.3(L2HGDH):c.1372C>A (p.Gln458Lys) SNV Uncertain significance 849499 14:50713796-50713796 14:50247078-50247078
21 L2HGDH NM_024884.3(L2HGDH):c.794G>A (p.Arg265His) SNV Uncertain significance 862846 14:50735993-50735993 14:50269275-50269275
22 L2HGDH NM_024884.3(L2HGDH):c.1032T>G (p.Ser344Arg) SNV Uncertain significance 571395 rs1273518496 14:50734503-50734503 14:50267785-50267785
23 L2HGDH NM_024884.3(L2HGDH):c.70C>T (p.Pro24Ser) SNV Uncertain significance 576215 rs749417358 14:50778799-50778799 14:50312081-50312081
24 L2HGDH NM_024884.3(L2HGDH):c.533A>T (p.Tyr178Phe) SNV Uncertain significance 577417 rs770542189 14:50760840-50760840 14:50294122-50294122
25 L2HGDH NM_024884.3(L2HGDH):c.586C>T (p.Arg196Trp) SNV Uncertain significance 579954 rs368140834 14:50750706-50750706 14:50283988-50283988
26 L2HGDH NM_024884.3(L2HGDH):c.275A>G (p.His92Arg) SNV Uncertain significance 641569 rs140209047 14:50768868-50768868 14:50302150-50302150
27 L2HGDH NM_024884.3(L2HGDH):c.627A>G (p.Ala209=) SNV Uncertain significance 158800 rs564306903 14:50750665-50750665 14:50283947-50283947
28 L2HGDH NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala) SNV Uncertain significance 435690 rs150157112 14:50732095-50732095 14:50265377-50265377
29 L2HGDH NM_024884.3(L2HGDH):c.339T>A (p.Cys113Ter) SNV Uncertain significance 973094 14:50768804-50768804 14:50302086-50302086
30 L2HGDH NM_024884.3(L2HGDH):c.1213A>G (p.Arg405Gly) SNV Uncertain significance 872978
31 L2HGDH NM_024884.3(L2HGDH):c.779G>T (p.Gly260Val) SNV Uncertain significance 947758 14:50736008-50736008 14:50269290-50269290
32 L2HGDH NM_024884.3(L2HGDH):c.574A>G (p.Ile192Val) SNV Uncertain significance 966753 14:50750718-50750718 14:50284000-50284000
33 L2HGDH NM_024884.3(L2HGDH):c.1174A>G (p.Ile392Val) SNV Likely benign 435698 rs373172891 14:50732098-50732098 14:50265380-50265380
34 L2HGDH NM_024884.3(L2HGDH):c.663T>C (p.Gly221=) SNV Likely benign 729930 rs201951588 14:50750629-50750629 14:50283911-50283911
35 L2HGDH NM_024884.3(L2HGDH):c.600G>A (p.Leu200=) SNV Likely benign 766266 rs748499389 14:50750692-50750692 14:50283974-50283974
36 L2HGDH NM_024884.3(L2HGDH):c.137C>T (p.Thr46Ile) SNV Likely benign 435697 rs201806251 14:50778732-50778732 14:50312014-50312014
37 L2HGDH NM_024884.3(L2HGDH):c.756T>C (p.Cys252=) SNV Likely benign 718946 rs141562044 14:50736031-50736031 14:50269313-50269313
38 L2HGDH NM_024884.3(L2HGDH):c.99G>T (p.Arg33Ser) SNV Benign 158803 rs35710558 14:50778770-50778770 14:50312052-50312052
39 L2HGDH NM_024884.3(L2HGDH):c.6G>T (p.Val2=) SNV Benign 211349 rs113626637 14:50778863-50778863 14:50312145-50312145
40 L2HGDH NM_024884.3(L2HGDH):c.1269A>G (p.Ala423=) SNV Benign 211346 rs369101323 14:50713899-50713899 14:50247181-50247181
41 L2HGDH NM_024884.3(L2HGDH):c.1353A>G (p.Gly451=) SNV Benign 791743 rs192927318 14:50713815-50713815 14:50247097-50247097
42 L2HGDH NM_024884.3(L2HGDH):c.336A>G (p.Leu112=) SNV Benign 559238 rs59390116 14:50768807-50768807 14:50302089-50302089
43 L2HGDH NM_024884.3(L2HGDH):c.647A>G (p.Asn216Ser) SNV Benign 788189 rs574500803 14:50750645-50750645 14:50283927-50283927
44 L2HGDH NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys) SNV Benign 199173 rs115954396 14:50732172-50732172 14:50265454-50265454

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

73
# 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.
Sources

Pathways for L-2-Hydroxyglutaric Aciduria

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

36
# 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
Metabolism 65
Show member pathways
 13.05 SLC25A1 NAXE MDH2 L2HGDH IDH2 IDH1
2
Carbon metabolism 36
Show member pathways
 11.83 MDH2 IDH2 IDH1
3
Citrate cycle (TCA cycle) 36
Show member pathways
 11.45 MDH2 IDH2 IDH1
4
Pyruvate metabolism and Citric Acid (TCA) cycle 65
Show member pathways
 11.37 MDH2 L2HGDH IDH2 D2HGDH
5
Cytosine methylation 1
Show member pathways
 10.27 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 extracellular exosome GO:0070062 9.7 SLC25A1 SLC13A3 NAXE MDH2 IDH2 IDH1
2 mitochondrial matrix GO:0005759 9.43 NAXE MDH2 IDH2 GCDH D2HGDH BTD
3 mitochondrion GO:0005739 9.32 SLC25A1 SCCPDH NAXE MDH2 L2HGDH IDH2

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.56 SCCPDH MDH2 L2HGDH KDM4C IDH2 IDH1
2 gluconeogenesis GO:0006094 9.5 SLC25A1 MDH2 G6PC3
3 aerobic respiration GO:0009060 9.46 MDH2 ADSL
4 fatty-acyl-CoA biosynthetic process GO:0046949 9.43 SLC25A1 GCDH
5 tricarboxylic acid cycle GO:0006099 9.43 MDH2 IDH2 IDH1
6 NADP metabolic process GO:0006739 9.4 IDH2 IDH1
7 isocitrate metabolic process GO:0006102 9.37 IDH2 IDH1
8 glyoxylate cycle GO:0006097 9.16 IDH2 IDH1
9 2-oxoglutarate metabolic process GO:0006103 8.92 L2HGDH IDH2 IDH1 D2HGDH

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.43 MDH2 IDH2 IDH1
2 NAD binding GO:0051287 9.37 IDH2 IDH1
3 citrate transmembrane transporter activity GO:0015137 9.32 SLC25A1 SLC13A3
4 oxidoreductase activity GO:0016491 9.23 SCCPDH MDH2 L2HGDH KDM4C IDH2 IDH1
5 isocitrate dehydrogenase (NADP+) activity GO:0004450 9.16 IDH2 IDH1
6 isocitrate dehydrogenase activity GO:0004448 8.96 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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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