L2HGA
MCID: L2H001
MIFTS: 52

L-2-Hydroxyglutaric Aciduria (L2HGA)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for L-2-Hydroxyglutaric Aciduria

MalaCards integrated aliases for L-2-Hydroxyglutaric Aciduria:

Name: L-2-Hydroxyglutaric Aciduria 57 11 19 58 73 28 12 5 14 71
L-2-Hydroxyglutaric Acidemia 57 11 19 58 73 71
L2hga 57 73
Combined D-2- and L-2-Hydroxyglutaric Aciduria 71
Aciduria, L-2-Hydroxyglutaric 38
L-2-Hga 58

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy or early childhood


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for L-2-Hydroxyglutaric Aciduria

GARD: 19 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 in the L2HGDH gene and is inherited in an autosomal recessive manner.

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 d-2-hydroxyglutaric aciduria 1, and has symptoms including dyspnea, abnormality of extrapyramidal motor function and stridor. An important gene associated with L-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 cerebellum, brain and skeletal muscle, and related phenotypes are seizure and intellectual disability, severe

UniProtKB/Swiss-Prot: 73 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 intellectual disability. Diagnosis is based on the presence of an excess of L-2- hydroxyglutaric acid in urine, blood and cerebrospinal fluid.

Orphanet: 58 L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.

Disease Ontology: 11 An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).

More information from OMIM: 236792

Related Diseases for L-2-Hydroxyglutaric Aciduria

Diseases in the L-2-Hydroxyglutaric Aciduria family:

D-2-Hydroxyglutaric Aciduria 1 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 127)
# Related Disease Score Top Affiliating Genes
1 combined d-2- and l-2-hydroxyglutaric aciduria 32.8 SLC25A1 MDH2 L2HGDH KDM4C IDH2 GSS
2 d-2-hydroxyglutaric aciduria 1 31.7 SLC25A1 L2HGDH KDM4C IDH2 IDH1 GSS
3 2-hydroxyglutaric aciduria 31.5 SLC25A1 NAXE NAXD MDH2 L2HGDH KDM4C
4 fibrillary astrocytoma 30.6 IDH2 IDH1
5 anaplastic astrocytoma 30.6 KDM4C IDH2 IDH1
6 gliomatosis cerebri 30.6 KDM4C IDH2 IDH1
7 diffuse astrocytoma 30.6 KDM4C IDH2 IDH1
8 organic acidemia 10.8
9 aceruloplasminemia 10.7
10 neurometabolic disease 10.6
11 abdominal obesity-metabolic syndrome 1 10.6
12 cerebellar disease 10.6
13 brain cancer 10.5
14 inherited metabolic disorder 10.5
15 encephalopathy 10.5
16 tremor 10.5
17 dystonia 10.5
18 glioma susceptibility 1 10.4
19 leukodystrophy 10.4
20 lactic acidosis 10.4
21 enchondroma 10.3 IDH2 IDH1
22 chondroma 10.3 IDH2 IDH1
23 histoplasmosis meningitis 10.3 IDH2 IDH1
24 anaplastic oligodendroglioma, idh-mutant and 1p/19q-codeleted 10.3 IDH2 IDH1
25 medulloblastoma 10.3
26 autism spectrum disorder 10.3
27 visual epilepsy 10.3
28 status epilepticus 10.3
29 epilepsy 10.3
30 movement disease 10.3
31 febrile seizures 10.3
32 myoclonus 10.3
33 periosteal chondrosarcoma 10.3 IDH2 IDH1
34 juxtacortical chondroma 10.3 IDH2 IDH1
35 idh-wildtype anaplastic astrocytoma 10.3 IDH2 IDH1
36 spinal cord astrocytoma 10.3 IDH2 IDH1
37 adult oligodendroglioma 10.3 IDH2 IDH1
38 childhood oligodendroglioma 10.3 IDH2 IDH1
39 chordoid glioma 10.3 IDH2 IDH1
40 astrocytoma, idh-mutant, grade 4 10.3 IDH2 IDH1
41 sinonasal undifferentiated carcinoma 10.3 IDH2 IDH1
42 spindle cell hemangioma 10.3 IDH2 IDH1
43 chondroblastic osteosarcoma 10.3 IDH2 IDH1
44 gemistocytic astrocytoma 10.3 IDH2 IDH1
45 mixed oligodendroglioma-astrocytoma 10.3 IDH2 IDH1
46 adult astrocytic tumor 10.3 IDH2 IDH1
47 paranasal sinus cancer 10.3 IDH2 IDH1
48 idh-mutant anaplastic astrocytoma 10.3 KDM4C IDH2 IDH1
49 developmental and epileptic encephalopathy 25 10.2 SLC25A1 SLC13A3
50 brain stem glioma 10.2 KDM4C IDH2 IDH1

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



Diseases related to L-2-Hydroxyglutaric Aciduria

Symptoms & Phenotypes for L-2-Hydroxyglutaric Aciduria

Human phenotypes related to L-2-Hydroxyglutaric Aciduria:

58 30 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001250
2 intellectual disability, severe 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010864
3 intellectual disability, progressive 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006887
4 infectious encephalitis 30 Hallmark (90%) HP:0002383
5 macrocephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000256
6 hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001252
7 behavioral abnormality 58 30 Frequent (33%) Frequent (79-30%)
HP:0000708
8 aplasia/hypoplasia of the cerebellum 58 30 Frequent (33%) Frequent (79-30%)
HP:0007360
9 abnormality of extrapyramidal motor function 58 30 Frequent (33%) Frequent (79-30%)
HP:0002071
10 neoplasm of the nervous system 58 30 Frequent (33%) Frequent (79-30%)
HP:0004375
11 spastic tetraparesis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001285
12 aphasia 30 Occasional (7.5%) HP:0002381
13 abnormal pyramidal sign 30 HP:0007256
14 nystagmus 30 HP:0000639
15 dysphasia 58 Occasional (29-5%)
16 developmental regression 30 HP:0002376
17 encephalitis 58 Very frequent (99-80%)
18 hearing impairment 30 HP:0000365
19 optic atrophy 30 HP:0000648
20 strabismus 30 HP:0000486
21 leukoencephalopathy 30 HP:0002352
22 cerebellar atrophy 30 HP:0001272
23 gliosis 30 HP:0002171
24 global brain atrophy 30 HP:0002283
25 corpus callosum atrophy 30 HP:0007371
26 morphological abnormality of the pyramidal tract 30 HP:0002062
27 severe demyelination of the white matter 30 HP:0007258
28 l-2-hydroxyglutaric aciduria 30 HP:0040144
29 l-2-hydroxyglutaric acidemia 30 HP:0040147

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
nystagmus
optic atrophy
strabismus

Head And Neck Ears:
hearing loss

Neurologic Central Nervous System:
dysphasia
spastic tetraparesis
severe demyelination of the white matter
seizures
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 (Updated 08-Dec-2022)

UMLS symptoms related to L-2-Hydroxyglutaric Aciduria:


dyspnea; abnormality of extrapyramidal motor function; stridor; seizures; abnormal pyramidal signs

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.15 ADHFE1 ADSL COA8 D2HGDH DMAC2L G6PC3
2 no effect GR00402-S-2 10.15 ADHFE1 ADSL COA8 DMAC2L GCDH GSS

Drugs & Therapeutics for L-2-Hydroxyglutaric Aciduria

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

Genetic Tests for L-2-Hydroxyglutaric Aciduria

Genetic tests related to L-2-Hydroxyglutaric Aciduria:

# Genetic test Affiliating Genes
1 L-2-Hydroxyglutaric Aciduria 28 L2HGDH

Anatomical Context for L-2-Hydroxyglutaric Aciduria

Organs/tissues related to L-2-Hydroxyglutaric Aciduria:

MalaCards : Cerebellum, Brain, Skeletal Muscle, Cortex, Liver, Thyroid

Publications for L-2-Hydroxyglutaric Aciduria

Articles related to L-2-Hydroxyglutaric Aciduria:

(show top 50) (show all 188)
# Title Authors PMID Year
1
L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. 62 57 5
15385440 2004
2
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 57 5
21937992 2011
3
L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria. 62 57
34062805 2021
4
L2hgdh Deficiency Accumulates l-2-Hydroxyglutarate with Progressive Leukoencephalopathy and Neurodegeneration. 62 57
28137912 2017
5
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. 62 5
20052767 2010
6
Identification of novel L2HGDH gene mutations and update of the pathological spectrum. 62 5
19911013 2010
7
Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review. 62 57
18931888 2009
8
L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. 62 57
17475916 2007
9
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin. 62 5
16134148 2005
10
L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings. 62 57
15824270 2005
11
A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. 62 57
15548604 2004
12
L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family. 62 57
10399870 1999
13
L-2-hydroxyglutaric aciduria: two further cases. 62 57
7609438 1993
14
L-2-hydroxyglutaric aciduria: three Australian cases. 62 57
7609437 1993
15
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. 62 57
1642474 1992
16
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism? 62 57
6787330 1980
17
A Case Report of Chronic Progressive Pancerebellar Syndrome with Leukoencephalopathy:L-2 Hydroxyglutaric Aciduria. 5
32626804 2020
18
Adult manifestation of L-2-hydroxyglutarate dehydrogenase deficiency by a novel mutation. 57
22459673 2012
19
Clinical, neuroimaging and genetic findings in children with hereditary ataxia: single center study. 62
36462087 2022
20
Postural tremor in L-2-hydroxyglutaric aciduria is associated with cerebellar atrophy. 62
34427791 2022
21
A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family. 62
34719772 2022
22
Attention deficit hyperactivity disorder: a rare clinical presentation of L-2-hydroxyglutaric aciduria. 62
34330727 2021
23
Parkinsonism and iron deposition in two adult patients with L-2-hydroxiglutaric aciduria. 62
33839641 2021
24
Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention. 62
34121999 2021
25
The Wide Phenotypic Spectrum of L-2 Hydroxyglutaric Aciduria in Adults. 62
33163579 2020
26
[A pedigree of L-2-hydroxyglutaric aciduria including 3 patients caused by homozygous L2HGDH variant]. 62
32619268 2020
27
Cerebral neoplasm in L-2-hydroxyglutaric aciduria: two different presentations. 62
31858216 2020
28
A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants. 62
32660532 2020
29
Classic Imaging Features of L-2-Hydroxyglutaric Aciduria in Young Adult Presenting as Seizures Associated with Fever. 62
32606526 2020
30
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review. 62
32340404 2020
31
Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population. 62
33042236 2020
32
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant. 62
31527857 2020
33
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. 62
31829048 2020
34
Inborn errors of metabolite repair. 62
31691304 2020
35
Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria. 62
33061758 2020
36
Findings on serial MRI in a childhood case of L2-hydroxyglutaric aciduria. 62
31737148 2020
37
A 7-year-old Boy with Hand Tremors and a Novel Mutation for L-2-hydroxyglutaric Aciduria. 62
31942424 2019
38
Oxidative stress among L-2-hydroxyglutaric aciduria disease patients: evaluation of dynamic thiol/disulfide homeostasis. 62
30499066 2019
39
Clinicoradiological Spectrum of L-2-Hydroxy Glutaric Aciduria: Typical and Atypical Findings in an Indian Cohort. 62
31448154 2019
40
Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation. 62
29654543 2019
41
Teaching NeuroImages: Imaging in metabolic leukoencephalopathy, L-2-hydroxyglutaric aciduria. 62
30323080 2018
42
A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review. 62
29980873 2018
43
Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2. 62
29987523 2018
44
A Drosophila model of combined D-2- and L-2-hydroxyglutaric aciduria reveals a mechanism linking mitochondrial citrate export with oncometabolite accumulation. 62
30108060 2018
45
Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria. 62
30217188 2018
46
Flux analysis of inborn errors of metabolism. 62
29318410 2018
47
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. 62
29411290 2018
48
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. 62
29238895 2018
49
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report. 62
29458334 2018
50
Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome. 62
29265763 2018

Variations for L-2-Hydroxyglutaric Aciduria

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

5 (show top 50) (show all 130)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 L2HGDH NM_024884.3(L2HGDH):c.906+1G>T SNV Pathogenic
1609 rs786200870 GRCh37: 14:50735880-50735880
GRCh38: 14:50269162-50269162
2 L2HGDH NM_024884.3(L2HGDH):c.164G>A (p.Gly55Asp) SNV Pathogenic
1610 rs118204021 GRCh37: 14:50769712-50769712
GRCh38: 14:50302994-50302994
3 overlap with 6 genes L2HGDH, EX1-9DEL DEL Pathogenic
1611 GRCh37:
GRCh38: 14:50000000-50247254
4 L2HGDH NM_024884.3(L2HGDH):c.293A>G (p.His98Arg) SNV Pathogenic
1612 rs267607206 GRCh37: 14:50768850-50768850
GRCh38: 14:50302132-50302132
5 L2HGDH NM_024884.3(L2HGDH):c.1003C>T (p.Arg335Ter) SNV Pathogenic
30793 rs387907013 GRCh37: 14:50734532-50734532
GRCh38: 14:50267814-50267814
6 L2HGDH NM_024884.3(L2HGDH):c.709C>T (p.Gln237Ter) SNV Pathogenic
931549 rs1890096157 GRCh37: 14:50745267-50745267
GRCh38: 14:50278549-50278549
7 L2HGDH NM_024884.3(L2HGDH):c.408+1G>C SNV Pathogenic
873014 rs2030438427 GRCh37: 14:50768734-50768734
GRCh38: 14:50302016-50302016
8 L2HGDH NM_024884.3(L2HGDH):c.140+726del DEL Pathogenic
1339478 GRCh37: 14:50778003-50778003
GRCh38: 14:50311285-50311285
9 L2HGDH NM_024884.3(L2HGDH):c.1065-13_1196+207del DEL Pathogenic
973586 rs1889265791 GRCh37: 14:50731869-50732220
GRCh38: 14:50265151-50265502
10 L2HGDH NM_024884.3(L2HGDH):c.959del (p.Asp320fs) DEL Pathogenic
1299481 GRCh37: 14:50734576-50734576
GRCh38: 14:50267858-50267858
11 L2HGDH NM_024884.3(L2HGDH):c.853del (p.Tyr285fs) DEL Pathogenic
1448939 GRCh37: 14:50735934-50735934
GRCh38: 14:50269216-50269216
12 L2HGDH NC_000014.8:g.(?_50778709)_(50778888_?)del DEL Pathogenic
1070154 GRCh37: 14:50778709-50778888
GRCh38:
13 L2HGDH NM_024884.3(L2HGDH):c.530del (p.Pro177fs) DEL Pathogenic
567343 rs766538932 GRCh37: 14:50760843-50760843
GRCh38: 14:50294125-50294125
14 L2HGDH NC_000014.9:g.(?_50267733)_(50269350_?)del DEL Pathogenic
831656 GRCh37: 14:50734451-50736068
GRCh38:
15 L2HGDH NM_024884.3(L2HGDH):c.1115del (p.Met372fs) DEL Pathogenic
1608 rs786200869 GRCh37: 14:50732157-50732157
GRCh38: 14:50265439-50265439
16 L2HGDH NM_024884.3(L2HGDH):c.465del (p.Gly156fs) DEL Pathogenic
211348 rs797045678 GRCh37: 14:50760908-50760908
GRCh38: 14:50294190-50294190
17 L2HGDH NM_024884.3(L2HGDH):c.1015del (p.Arg339fs) DEL Pathogenic
435701 rs1555328749 GRCh37: 14:50734520-50734520
GRCh38: 14:50267802-50267802
18 L2HGDH NM_024884.3(L2HGDH):c.208C>T (p.Arg70Ter) SNV Pathogenic
580563 rs937345512 GRCh37: 14:50769668-50769668
GRCh38: 14:50302950-50302950
19 L2HGDH NM_024884.3(L2HGDH):c.829C>T (p.Arg277Ter) SNV Pathogenic
863865 rs752025180 GRCh37: 14:50735958-50735958
GRCh38: 14:50269240-50269240
20 L2HGDH NM_024884.3(L2HGDH):c.903T>G (p.Tyr301Ter) SNV Pathogenic
1028352 rs1889521207 GRCh37: 14:50735884-50735884
GRCh38: 14:50269166-50269166
21 L2HGDH, DMAC2L NM_024884.3(L2HGDH):c.1A>G (p.Met1Val) SNV Pathogenic
1342871 rs1477101414 GRCh37: 14:50778868-50778868
GRCh38: 14:50312150-50312150
22 L2HGDH NM_024884.3(L2HGDH):c.256+1G>A SNV Pathogenic/Likely Pathogenic
379781 rs150299874 GRCh37: 14:50769619-50769619
GRCh38: 14:50302901-50302901
23 L2HGDH NM_024884.3(L2HGDH):c.368A>G (p.Tyr123Cys) SNV Likely Pathogenic
1709367 GRCh37: 14:50768775-50768775
GRCh38: 14:50302057-50302057
24 L2HGDH NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu) SNV Likely Pathogenic
1607 rs118204020 GRCh37: 14:50735882-50735882
GRCh38: 14:50269164-50269164
25 L2HGDH NM_024884.3(L2HGDH):c.584A>G (p.Tyr195Cys) SNV Likely Pathogenic
435700 rs887386390 GRCh37: 14:50750708-50750708
GRCh38: 14:50283990-50283990
26 L2HGDH NM_024884.3(L2HGDH):c.408+14T>C SNV Conflicting Interpretations Of Pathogenicity
1028350 rs77736285 GRCh37: 14:50768721-50768721
GRCh38: 14:50302003-50302003
27 L2HGDH NM_024884.3(L2HGDH):c.627A>G (p.Ala209=) SNV Conflicting Interpretations Of Pathogenicity
158800 rs564306903 GRCh37: 14:50750665-50750665
GRCh38: 14:50283947-50283947
28 L2HGDH NM_024884.3(L2HGDH):c.1032T>G (p.Ser344Arg) SNV Uncertain Significance
571395 rs1273518496 GRCh37: 14:50734503-50734503
GRCh38: 14:50267785-50267785
29 L2HGDH, DMAC2L NM_024884.3(L2HGDH):c.70C>T (p.Pro24Ser) SNV Uncertain Significance
576215 rs749417358 GRCh37: 14:50778799-50778799
GRCh38: 14:50312081-50312081
30 L2HGDH NM_024884.3(L2HGDH):c.275A>G (p.His92Arg) SNV Uncertain Significance
641569 rs140209047 GRCh37: 14:50768868-50768868
GRCh38: 14:50302150-50302150
31 L2HGDH NM_024884.3(L2HGDH):c.845G>A (p.Arg282Gln) SNV Uncertain Significance
841222 rs765312282 GRCh37: 14:50735942-50735942
GRCh38: 14:50269224-50269224
32 L2HGDH NM_024884.3(L2HGDH):c.1372C>A (p.Gln458Lys) SNV Uncertain Significance
849499 rs754748944 GRCh37: 14:50713796-50713796
GRCh38: 14:50247078-50247078
33 L2HGDH NM_024884.3(L2HGDH):c.833T>C (p.Ile278Thr) SNV Uncertain Significance
1028351 rs763449413 GRCh37: 14:50735954-50735954
GRCh38: 14:50269236-50269236
34 L2HGDH NM_024884.3(L2HGDH):c.779G>T (p.Gly260Val) SNV Uncertain Significance
947758 rs776859735 GRCh37: 14:50736008-50736008
GRCh38: 14:50269290-50269290
35 L2HGDH NM_024884.3(L2HGDH):c.574A>G (p.Ile192Val) SNV Uncertain Significance
966753 rs755942764 GRCh37: 14:50750718-50750718
GRCh38: 14:50284000-50284000
36 L2HGDH NM_024884.3(L2HGDH):c.152T>C (p.Ile51Thr) SNV Uncertain Significance
1018292 rs760247218 GRCh37: 14:50769724-50769724
GRCh38: 14:50303006-50303006
37 L2HGDH NM_024884.3(L2HGDH):c.713A>G (p.Tyr238Cys) SNV Uncertain Significance
1301784 GRCh37: 14:50745263-50745263
GRCh38: 14:50278545-50278545
38 L2HGDH NM_024884.3(L2HGDH):c.258T>A (p.Ala86=) SNV Uncertain Significance
1360289 GRCh37: 14:50768885-50768885
GRCh38: 14:50302167-50302167
39 L2HGDH NM_024884.3(L2HGDH):c.289A>T (p.Ile97Leu) SNV Uncertain Significance
1389039 GRCh37: 14:50768854-50768854
GRCh38: 14:50302136-50302136
40 L2HGDH NM_024884.3(L2HGDH):c.486G>A (p.Pro162=) SNV Uncertain Significance
1384006 GRCh37: 14:50760887-50760887
GRCh38: 14:50294169-50294169
41 L2HGDH NM_024884.3(L2HGDH):c.274C>T (p.His92Tyr) SNV Uncertain Significance
1394858 GRCh37: 14:50768869-50768869
GRCh38: 14:50302151-50302151
42 L2HGDH NM_024884.3(L2HGDH):c.1267G>A (p.Ala423Thr) SNV Uncertain Significance
1044003 rs1888055860 GRCh37: 14:50713901-50713901
GRCh38: 14:50247183-50247183
43 L2HGDH NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala) SNV Uncertain Significance
435690 rs150157112 GRCh37: 14:50732095-50732095
GRCh38: 14:50265377-50265377
44 L2HGDH NM_024884.3(L2HGDH):c.794G>A (p.Arg265His) SNV Uncertain Significance
862846 rs748747271 GRCh37: 14:50735993-50735993
GRCh38: 14:50269275-50269275
45 L2HGDH NM_024884.3(L2HGDH):c.433G>A (p.Glu145Lys) SNV Uncertain Significance
1010897 rs1403658578 GRCh37: 14:50760940-50760940
GRCh38: 14:50294222-50294222
46 L2HGDH NM_024884.3(L2HGDH):c.586C>T (p.Arg196Trp) SNV Uncertain Significance
579954 rs368140834 GRCh37: 14:50750706-50750706
GRCh38: 14:50283988-50283988
47 L2HGDH NM_024884.3(L2HGDH):c.530C>T (p.Pro177Leu) SNV Uncertain Significance
1522731 GRCh37: 14:50760843-50760843
GRCh38: 14:50294125-50294125
48 L2HGDH NM_024884.3(L2HGDH):c.738G>A (p.Lys246=) SNV Uncertain Significance
1007053 rs771091083 GRCh37: 14:50745238-50745238
GRCh38: 14:50278520-50278520
49 L2HGDH NM_024884.3(L2HGDH):c.1199G>A (p.Gly400Asp) SNV Uncertain Significance
1334028 GRCh37: 14:50713969-50713969
GRCh38: 14:50247251-50247251
50 L2HGDH NM_024884.3(L2HGDH):c.1376A>G (p.Gln459Arg) SNV Uncertain Significance
1032202 rs375890787 GRCh37: 14:50713792-50713792
GRCh38: 14:50247074-50247074

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

Expression for L-2-Hydroxyglutaric Aciduria

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

Pathways for L-2-Hydroxyglutaric Aciduria

GO Terms for L-2-Hydroxyglutaric Aciduria

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.8 NAXE NAXD MDH2 IDH2 GCDH D2HGDH
2 mitochondrion GO:0005739 9.72 SLC25A4 SLC25A1 SCCPDH NAXE NAXD MDH2

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

# Name GO ID Score Top Affiliating Genes
1 gluconeogenesis GO:0006094 9.85 SLC25A1 MDH2 G6PC3
2 NADP metabolic process GO:0006739 9.76 IDH2 IDH1
3 malate metabolic process GO:0006108 9.73 MDH2 D2HGDH
4 tricarboxylic acid cycle GO:0006099 9.73 IDH1 IDH2 MDH2
5 fatty-acyl-CoA biosynthetic process GO:0046949 9.71 SLC25A1 GCDH
6 isocitrate metabolic process GO:0006102 9.62 IDH2 IDH1
7 glyoxylate cycle GO:0006097 9.46 IDH2 IDH1
8 2-oxoglutarate metabolic process GO:0006103 9.32 L2HGDH IDH2 IDH1 D2HGDH ADHFE1
9 nicotinamide nucleotide metabolic process GO:0046496 9.13 NAXE NAXD

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

# Name GO ID Score Top Affiliating Genes
1 glutathione binding GO:0043295 9.62 MMACHC GSS
2 citrate transmembrane transporter activity GO:0015137 9.46 SLC25A1 SLC13A3
3 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.43 MDH2 IDH2 IDH1
4 oxidoreductase activity GO:0016491 9.4 SCCPDH MMACHC MDH2 L2HGDH KDM4C IDH2
5 isocitrate dehydrogenase (NADP+) activity GO:0004450 9.26 IDH2 IDH1

Sources for L-2-Hydroxyglutaric Aciduria

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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