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

Aliases & Classifications for L-2-Hydroxyglutaric Aciduria

MalaCards integrated aliases for L-2-Hydroxyglutaric Aciduria:

Name: L-2-Hydroxyglutaric Aciduria 56 12 52 58 73 36 29 13 6 15 71
L-2-Hydroxyglutaric Acidemia 56 12 52 58 73 71
L2hga 56 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:

56
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:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for L-2-Hydroxyglutaric Aciduria

NIH Rare Diseases : 52 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 gliomatosis cerebri and fibrillary astrocytoma, 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 breast, 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 : 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

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

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 gliomatosis cerebri 30.4 KDM4C IDH1
2 fibrillary astrocytoma 30.3 KDM4C IDH2 IDH1
3 grade iii astrocytoma 30.3 KDM4C IDH2 IDH1
4 hyperlysinemia, type i 30.0 SUOX SCCPDH L2HGDH
5 d-2-hydroxyglutaric aciduria 1 30.0 SUOX L2HGDH KDM4C IDH2 IDH1 GCDH
6 2-hydroxyglutaric aciduria 29.6 SUOX SLC25A1 SCCPDH MDH2 L2HGDH KDM4C
7 combined d-2- and l-2-hydroxyglutaric aciduria 13.0
8 ataxia and polyneuropathy, adult-onset 10.8
9 aceruloplasminemia 10.6
10 encephalopathy 10.6
11 neurometabolic disease 10.6
12 organic acidemia 10.6
13 tremor 10.6
14 lactic acidosis 10.4
15 medulloblastoma 10.3
16 astrocytoma 10.3
17 dystonia 10.3
18 enchondroma 10.3 IDH2 IDH1
19 breast duct papilloma 10.3 IDH2 IDH1
20 cytogenetically normal acute myeloid leukemia 10.3 IDH2 IDH1
21 intracranial chondrosarcoma 10.3 IDH2 IDH1
22 adult brain stem glioma 10.3 IDH2 IDH1
23 central nervous system rhabdomyosarcoma 10.3 IDH2 IDH1
24 periosteal chondrosarcoma 10.3 IDH2 IDH1
25 breast hemangioma 10.3 IDH2 IDH1
26 adult oligodendroglioma 10.3 IDH2 IDH1
27 cerebellar astrocytoma 10.3 IDH2 IDH1
28 childhood oligodendroglioma 10.3 IDH2 IDH1
29 spinal cord oligodendroglioma 10.2 IDH2 IDH1
30 interval angle-closure glaucoma 10.2 IDH2 IDH1
31 gemistocytic astrocytoma 10.2 IDH2 IDH1
32 clear cell chondrosarcoma 10.2 IDH2 IDH1
33 undifferentiated pleomorphic sarcoma 10.2 IDH2 IDH1
34 cerebellum cancer 10.2 IDH2 IDH1
35 chondroblastic osteosarcoma 10.2 IDH2 IDH1
36 adult astrocytic tumour 10.2 IDH2 IDH1
37 intraductal breast neoplasm 10.2 IDH2 IDH1
38 mixed glioma 10.2 IDH2 IDH1
39 intraductal papilloma 10.2 IDH2 IDH1
40 spindle cell hemangioma 10.2 IDH2 IDH1
41 cerebral ventricle cancer 10.2 IDH2 IDH1
42 canavan disease 10.2
43 cerebrum cancer 10.2 IDH2 IDH1
44 atrial standstill 1 10.2
45 migraine with or without aura 1 10.2
46 digeorge syndrome 10.2
47 von hippel-lindau syndrome 10.2
48 kearns-sayre syndrome 10.2
49 wilms tumor 5 10.2
50 abdominal obesity-metabolic syndrome 1 10.2

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

Symptoms via clinical synopsis from OMIM:

56
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

UMLS symptoms related to L-2-Hydroxyglutaric Aciduria:


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

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 29 L2HGDH

Anatomical Context for L-2-Hydroxyglutaric Aciduria

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

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

Publications for L-2-Hydroxyglutaric Aciduria

Articles related to L-2-Hydroxyglutaric Aciduria:

(show top 50) (show all 166)
# Title Authors PMID Year
1
L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. 61 56 6
15385440 2004
2
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 56 6
21937992 2011
3
Identification of novel L2HGDH gene mutations and update of the pathological spectrum. 61 6
19911013 2010
4
Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review. 61 56
18931888 2009
5
L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. 61 56
17475916 2007
6
L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings. 61 56
15824270 2005
7
A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. 61 56
15548604 2004
8
L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family. 61 56
10399870 1999
9
L-2-hydroxyglutaric aciduria: three Australian cases. 61 56
7609437 1993
10
L-2-hydroxyglutaric aciduria: two further cases. 61 56
7609438 1993
11
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. 61 56
1642474 1992
12
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism? 61 56
6787330 1980
13
L2hgdh Deficiency Accumulates l-2-Hydroxyglutarate with Progressive Leukoencephalopathy and Neurodegeneration. 56
28137912 2017
14
Adult manifestation of L-2-hydroxyglutarate dehydrogenase deficiency by a novel mutation. 56
22459673 2012
15
Inborn errors of metabolite repair. 61
31691304 2020
16
Cerebral neoplasm in L-2-hydroxyglutaric aciduria: two different presentations. 61
31858216 2019
17
A 7-year-old Boy with Hand Tremors and a Novel Mutation for L-2-hydroxyglutaric Aciduria. 61
31942424 2019
18
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant. 61
31527857 2019
19
Oxidative stress among L-2-hydroxyglutaric aciduria disease patients: evaluation of dynamic thiol/disulfide homeostasis. 61
30499066 2019
20
Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation. 61
29654543 2019
21
Teaching NeuroImages: Imaging in metabolic leukoencephalopathy, L-2-hydroxyglutaric aciduria. 61
30323080 2018
22
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
23
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
24
Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria. 61
30217188 2018
25
Flux analysis of inborn errors of metabolism. 61
29318410 2018
26
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
27
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. 61
29238895 2018
28
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report. 61
29458334 2018
29
A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion. 61
29226520 2018
30
Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome. 61
29265763 2018
31
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
32
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
33
Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk. 61
28620009 2017
34
An L-2-Hydroxyglutaric Aciduria Case Presented With Acute Bacterial Meningitis. 61
28141777 2017
35
[L-2-hydroxyglutaric aciduria caused by a new mutation in the L2HGDH gene]. 61
28617386 2017
36
Clinical features and disease progression of L-2-hydroxyglutaric aciduria in 27 Staffordshire bull terriers. 61
27729589 2016
37
Why is L-2 hydroxyglutaric aciduria relevant for a general practitioner? 61
27885126 2016
38
In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria. 61
27543339 2016
39
Inherited metabolic disorders in Turkish patients with autism spectrum disorders. 61
26055667 2016
40
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency. 61
27306203 2016
41
White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria. 61
25982940 2016
42
Gliomatosis cerebri in L-2-hydroxyglutaric aciduria. 61
25997888 2015
43
A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study. 61
26208971 2015
44
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
45
Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria. 61
25338511 2015
46
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
47
A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair. 61
25763823 2015
48
Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment. 61
24687295 2014
49
L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier. 61
24830757 2014
50
L-2-Hydroxyglutaric aciduria: a case report. 61
25033591 2014

Variations for L-2-Hydroxyglutaric Aciduria

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

6 (show all 21) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 L2HGDH NM_024884.3(L2HGDH):c.465del (p.Gly156fs)deletion Pathogenic 211348 rs797045678 14:50760908-50760908 14:50294190-50294190
2 L2HGDH NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu)SNV Pathogenic 1607 rs118204020 14:50735882-50735882 14:50269164-50269164
3 L2HGDH NM_024884.3(L2HGDH):c.1115del (p.Met372fs)deletion Pathogenic 1608 rs786200869 14:50732157-50732157 14:50265439-50265439
4 L2HGDH NM_024884.3(L2HGDH):c.906+1G>TSNV Pathogenic 1609 rs786200870 14:50735880-50735880 14:50269162-50269162
5 L2HGDH NM_024884.3(L2HGDH):c.164G>A (p.Gly55Asp)SNV Pathogenic 1610 rs118204021 14:50769712-50769712 14:50302994-50302994
6 L2HGDH L2HGDH, EX1-9DELdeletion Pathogenic 1611 14:50000000-50247254
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.256+1G>ASNV Pathogenic 379781 rs150299874 14:50769619-50769619 14:50302901-50302901
9 L2HGDH NM_024884.3(L2HGDH):c.1015del (p.Arg339fs)deletion Pathogenic 435701 rs1555328749 14:50734520-50734520 14:50267802-50267802
10 L2HGDH NM_024884.3(L2HGDH):c.530del (p.Pro177fs)deletion Pathogenic 567343 rs766538932 14:50760843-50760843 14:50294125-50294125
11 L2HGDH NM_024884.3(L2HGDH):c.208C>T (p.Arg70Ter)SNV Pathogenic 580563 rs937345512 14:50769668-50769668 14:50302950-50302950
12 L2HGDH NM_024884.3(L2HGDH):c.584A>G (p.Tyr195Cys)SNV Likely pathogenic 435700 rs887386390 14:50750708-50750708 14:50283990-50283990
13 L2HGDH NM_024884.3(L2HGDH):c.293A>G (p.His98Arg)SNV Likely pathogenic 1612 rs267607206 14:50768850-50768850 14:50302132-50302132
14 L2HGDH NM_024884.3(L2HGDH):c.627A>G (p.Ala209=)SNV Conflicting interpretations of pathogenicity 158800 rs564306903 14:50750665-50750665 14:50283947-50283947
15 L2HGDH NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala)SNV Uncertain significance 435690 rs150157112 14:50732095-50732095 14:50265377-50265377
16 L2HGDH NM_024884.3(L2HGDH):c.586C>T (p.Arg196Trp)SNV Uncertain significance 579954 rs368140834 14:50750706-50750706 14:50283988-50283988
17 L2HGDH NM_024884.3(L2HGDH):c.533A>T (p.Tyr178Phe)SNV Uncertain significance 577417 rs770542189 14:50760840-50760840 14:50294122-50294122
18 L2HGDH NM_024884.3(L2HGDH):c.1032T>G (p.Ser344Arg)SNV Uncertain significance 571395 rs1273518496 14:50734503-50734503 14:50267785-50267785
19 L2HGDH NM_024884.3(L2HGDH):c.275A>G (p.His92Arg)SNV Uncertain significance 641569 14:50768868-50768868 14:50302150-50302150
20 L2HGDH NM_024884.3(L2HGDH):c.70C>T (p.Pro24Ser)SNV Uncertain significance 576215 rs749417358 14:50778799-50778799 14:50312081-50312081
21 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

Expression for L-2-Hydroxyglutaric Aciduria

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

Pathways for L-2-Hydroxyglutaric Aciduria

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
Show member pathways
13.55 SUOX SLC25A1 MDH2 L2HGDH IDH2 IDH1
2
Show member pathways
13.1 MDH2 L2HGDH IDH2 DMAC2L D2HGDH ADHFE1
3
Show member pathways
11.82 MDH2 IDH2 IDH1
4
Show member pathways
11.45 MDH2 IDH2 IDH1
5
Show member pathways
11.14 MDH2 L2HGDH IDH2 D2HGDH ADHFE1
6
Show member pathways
10.25 TET2 IDH2 IDH1

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 mitochondrion GO:0005739 9.65 SUOX SLC25A1 SCCPDH MDH2 L2HGDH IDH2
2 mitochondrial matrix GO:0005759 9.17 SUOX MDH2 IDH2 GCDH D2HGDH BTD

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

# Name GO ID Score Top Affiliating Genes
1 tricarboxylic acid cycle GO:0006099 9.43 MDH2 IDH2 IDH1
2 fatty-acyl-CoA biosynthetic process GO:0046949 9.4 SLC25A1 GCDH
3 NADP metabolic process GO:0006739 9.37 IDH2 IDH1
4 oxidation-reduction process GO:0055114 9.36 TET2 SUOX SCCPDH MDH2 L2HGDH KDM4C
5 2-oxoglutarate metabolic process GO:0006103 9.35 L2HGDH IDH2 IDH1 D2HGDH ADHFE1
6 isocitrate metabolic process GO:0006102 9.32 IDH2 IDH1
7 glyoxylate cycle GO:0006097 9.16 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, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.43 MDH2 IDH2 IDH1
2 oxidoreductase activity GO:0016491 9.36 TET2 SUOX SCCPDH MDH2 L2HGDH KDM4C
3 NAD binding GO:0051287 9.32 IDH2 IDH1
4 isocitrate dehydrogenase (NADP+) activity GO:0004450 9.16 IDH2 IDH1
5 isocitrate dehydrogenase activity GO:0004448 8.96 IDH2 IDH1

Sources for L-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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