MCID: D2H002
MIFTS: 47

D-2-Hydroxyglutaric Aciduria 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for D-2-Hydroxyglutaric Aciduria 1

MalaCards integrated aliases for D-2-Hydroxyglutaric Aciduria 1:

Name: D-2-Hydroxyglutaric Aciduria 1 57 75 29 6 73
D-2-Hydroxyglutaric Aciduria 57 12 53 59 37 29 13 6 15 73
D-2-Hydroxyglutaric Acidemia 53 59
D-2-Hga 53 59
D2hga1 57 75
D2ha 53 75
Combined D-2- and L-2-Hydroxyglutaric Aciduria 73
D2hga 57

Characteristics:

Orphanet epidemiological data:

59
d-2-hydroxyglutaric aciduria
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two different phenotypes exist - severe phenotype (early infantile onset, epileptic encephalopathy and often cardiomyopathy) and mild phenotype (more variable clinical presentation)
severe phenotype onset - neonate
mild phenotype onset - 11-18 months


HPO:

32
d-2-hydroxyglutaric aciduria 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for D-2-Hydroxyglutaric Aciduria 1

NIH Rare Diseases : 53 D-2-alpha hydroxyglutaric aciduria is an inheritedmetabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition include developmental delay, seizures, hypotonia, and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. D-2-alpha hydroxyglutaric aciduria is caused by changes (mutations) in the D2HGDH 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 : D-2-Hydroxyglutaric Aciduria 1, also known as d-2-hydroxyglutaric aciduria, is related to 2-hydroxyglutaric aciduria and l-2-hydroxyglutaric aciduria, and has symptoms including dyspnea, seizures and stridor. An important gene associated with D-2-Hydroxyglutaric Aciduria 1 is D2HGDH (D-2-Hydroxyglutarate Dehydrogenase), and among its related pathways/superpathways are Citrate cycle (TCA cycle) and Glutathione metabolism. Affiliated tissues include brain and skeletal muscle, and related phenotypes are macrocephaly and frontal bossing

Disease Ontology : 12 An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.

OMIM : 57 D-2-hydroxyglutaric aciduria is a neurometabolic disorder first described by Chalmers et al. (1980). Clinical symptoms include developmental delay, epilepsy, hypotonia, and dysmorphic features. Mild and severe phenotypes were characterized (van der Knaap et al., 1999). The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and, often, cardiomyopathy. The mild phenotype has a more variable clinical presentation. (600721)

UniProtKB/Swiss-Prot : 75 D-2-hydroxyglutaric aciduria 1: A rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2- hydroxyglutaric acid in the urine.

Related Diseases for D-2-Hydroxyglutaric Aciduria 1

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

D-2-Hydroxyglutaric Aciduria 2

Diseases related to D-2-Hydroxyglutaric Aciduria 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 2-hydroxyglutaric aciduria 31.7 D2HGDH GCDH IDH1 IDH2 L2HGDH
2 l-2-hydroxyglutaric aciduria 30.8 GLS2 L2HGDH
3 d-2-hydroxyglutaric aciduria 2 12.5
4 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria 12.3
5 combined d-2- and l-2-hydroxyglutaric aciduria 11.7
6 interval angle-closure glaucoma 10.8 IDH1 IDH2
7 adult oligodendroglioma 10.8 IDH1 IDH2
8 enchondroma 10.8 IDH1 IDH2
9 intracranial chondrosarcoma 10.8 IDH1 IDH2
10 cytogenetically normal acute myeloid leukemia 10.8 IDH1 IDH2
11 chondroblastic osteosarcoma 10.8 IDH1 IDH2
12 intraductal papilloma 10.8 IDH1 IDH2
13 pilocytic astrocytoma of cerebellum 10.7 IDH1 IDH2
14 spindle cell hemangioma 10.7 IDH1 IDH2
15 glioma susceptibility 1 10.7 IDH1 IDH2
16 periosteal chondrosarcoma 10.7 IDH1 IDH2
17 adult astrocytic tumour 10.7 IDH1 IDH2
18 fibrillary astrocytoma 10.7 IDH1 IDH2
19 undifferentiated pleomorphic sarcoma 10.7 IDH1 IDH2
20 drug-induced mental disorder 10.6 IDH1 IDH2
21 drug psychosis 10.6 IDH1 IDH2
22 diffuse infiltrative lymphocytosis syndrome 10.6 IDH1 IDH2
23 brain stem glioma 10.5 IDH1 IDH2
24 multiple enchondromatosis, maffucci type 10.4 IDH1 IDH2 PTH1R
25 breast papillary carcinoma 10.4 IDH1 IDH2
26 epilepsy, focal, with speech disorder and with or without mental retardation 10.4 GRIN2A GRIN2B
27 hypercementosis 10.3 ACP5 PTH1R
28 tooth resorption 10.3 ACP5 PTH1R
29 bile duct adenocarcinoma 10.2 IDH1 IDH2
30 ocular dominance 10.2 GRIN2A GRIN2B
31 fetal alcohol spectrum disorder 10.1 GRIN2A GRIN2B
32 fetal alcohol syndrome 10.0 GRIN2A GRIN2B
33 hemangioma 10.0
34 cortical blindness 10.0
35 cerebritis 10.0
36 peripheral nervous system disease 10.0
37 neuropathy 10.0
38 hypotonia 10.0
39 valproate embryopathy 9.9 GRIN2A GRIN2B
40 enchondromatosis, multiple, ollier type 9.8 ACP5 IDH1 IDH2 PTH1R
41 speech disorder 9.6 GRIN2A GRIN2B

Graphical network of the top 20 diseases related to D-2-Hydroxyglutaric Aciduria 1:



Diseases related to D-2-Hydroxyglutaric Aciduria 1

Symptoms & Phenotypes for D-2-Hydroxyglutaric Aciduria 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Muscle Soft Tissue:
muscle weakness

Cardiovascular Heart:
aortic insufficiency
cardiomyopathy (severe form)

Abdomen Gastrointestinal:
episodic vomiting (severe form)

Neurologic Central Nervous System:
seizures
multifocal cerebral white matter abnormalities
delayed myelination
hypotonia
mental retardation
more
Head And Neck Face:
prominent forehead
micrognathia

Respiratory:
inspiratory stridor (severe form)
apnea (severe form)

Laboratory Abnormalities:
d-2-hydroxyglutaric aciduria
elevated d-2-hydroxyglutaric acid (urine, plasma, csf)
elevated l-2-hydroxyglutaric acid (urine)
elevated 2-ketoglutarate (urine)


Clinical features from OMIM:

600721

Human phenotypes related to D-2-Hydroxyglutaric Aciduria 1:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 frontal bossing 32 HP:0002007
3 intellectual disability 32 HP:0001249
4 seizures 32 HP:0001250
5 muscular hypotonia 32 HP:0001252
6 muscle weakness 32 HP:0001324
7 global developmental delay 32 HP:0001263
8 prominent forehead 32 HP:0011220
9 micrognathia 32 HP:0000347
10 cardiomyopathy 32 HP:0001638
11 apnea 32 HP:0002104
12 aortic regurgitation 32 HP:0001659
13 generalized hypotonia 32 HP:0001290
14 delayed cns myelination 32 HP:0002188
15 episodic vomiting 32 HP:0002572
16 multifocal cerebral white matter abnormalities 32 HP:0007052
17 dilation of lateral ventricles 32 HP:0006956
18 inspiratory stridor 32 HP:0005348
19 subependymal cysts 32 HP:0002416
20 infantile encephalopathy 32 HP:0007105
21 glutaric aciduria 32 HP:0003150
22 d-2-hydroxyglutaric aciduria 32 HP:0012321

UMLS symptoms related to D-2-Hydroxyglutaric Aciduria 1:


dyspnea, seizures, stridor, muscle weakness

Drugs & Therapeutics for D-2-Hydroxyglutaric Aciduria 1

Search Clinical Trials , NIH Clinical Center for D-2-Hydroxyglutaric Aciduria 1

Genetic Tests for D-2-Hydroxyglutaric Aciduria 1

Genetic tests related to D-2-Hydroxyglutaric Aciduria 1:

# Genetic test Affiliating Genes
1 D-2-Hydroxyglutaric Aciduria 1 29 D2HGDH
2 D-2-Hydroxyglutaric Aciduria 29

Anatomical Context for D-2-Hydroxyglutaric Aciduria 1

MalaCards organs/tissues related to D-2-Hydroxyglutaric Aciduria 1:

41
Brain, Skeletal Muscle

Publications for D-2-Hydroxyglutaric Aciduria 1

Articles related to D-2-Hydroxyglutaric Aciduria 1:

(show all 36)
# Title Authors Year
1
Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria. ( 29744569 )
2018
2
A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model. ( 27469509 )
2016
3
Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing. ( 24049096 )
2013
4
Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients. ( 22639207 )
2012
5
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). ( 22025298 )
2011
6
Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria. ( 21384162 )
2011
7
A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies. ( 21889589 )
2011
8
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria. ( 20020533 )
2010
9
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. ( 20847235 )
2010
10
Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria. ( 19169842 )
2009
11
[D-2-hydroxyglutaric aciduria. Report of two cases]. ( 19961059 )
2009
12
D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect. ( 16601864 )
2006
13
D-2-Hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon? ( 16442322 )
2006
14
Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins. ( 16081310 )
2005
15
Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. ( 16037974 )
2005
16
Investigations by mass isotopomer analysis of the formation of D-2-hydroxyglutarate by cultured lymphoblasts from two patients with D-2-hydroxyglutaric aciduria. ( 14741351 )
2004
17
D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders? ( 15248096 )
2004
18
Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination. ( 12868470 )
2003
19
D-2-Hydroxyglutaric aciduria with absence of corpus callosum and neonatal intracranial haemorrhage. ( 12872850 )
2003
20
D-2-hydroxyglutaric aciduria: a case with an intermediate phenotype and prenatal diagnosis of two affected fetuses. ( 12884432 )
2003
21
Disease-related metabolites in culture medium of fibroblasts from patients with D-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria, and combined D/L-2-hydroxyglutaric aciduria. ( 12816910 )
2003
22
D-2-Hydroxyglutaric aciduria in a patient with a severe clinical phenotype and unusual MRI findings. ( 11999977 )
2002
23
D-2-Hydroxyglutaric aciduria and subdural haemorrhage. ( 12162609 )
2002
24
NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria. ( 12153528 )
2002
25
D-2-hydroxyglutaric aciduria with cerebral, vascular, and muscular abnormalities in a 14-year-old boy. ( 10921524 )
2000
26
D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis. ( 10883451 )
2000
27
D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity? ( 9894884 )
1999
28
Facial anomalies in D-2-hydroxyglutaric aciduria. ( 10449646 )
1999
29
D-2-hydroxyglutaric aciduria: further clinical delineation. ( 10407777 )
1999
30
D-2-hydroxyglutaric aciduria: evidence of clinical and biochemical heterogeneity. ( 9686368 )
1998
31
D-2-hydroxyglutaric aciduria: hypotonia, cortical blindness, seizures, cardiomyopathy, and cylindrical spirals in skeletal muscle. ( 9010793 )
1997
32
D-2-hydroxyglutaric aciduria. ( 7782605 )
1995
33
Clinical and MRI findings in a case of D-2-hydroxyglutaric aciduria. ( 7625550 )
1995
34
D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction. ( 7515241 )
1994
35
D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder? ( 7609436 )
1993
36
D-2-hydroxyglutaric aciduria: case report and biochemical studies. ( 6774165 )
1980

Variations for D-2-Hydroxyglutaric Aciduria 1

UniProtKB/Swiss-Prot genetic disease variations for D-2-Hydroxyglutaric Aciduria 1:

75
# Symbol AA change Variation ID SNP ID
1 D2HGDH p.Ile147Ser VAR_025890 rs121434361
2 D2HGDH p.Asp375Tyr VAR_025891 rs267606759
3 D2HGDH p.Asn439Asp VAR_025893 rs121434362
4 D2HGDH p.Val444Ala VAR_025894 rs121434360

ClinVar genetic disease variations for D-2-Hydroxyglutaric Aciduria 1:

6
(show top 50) (show all 147)
# Gene Variation Type Significance SNP ID Assembly Location
1 D2HGDH NM_152783.4(D2HGDH): c.1331T> C (p.Val444Ala) single nucleotide variant Pathogenic rs121434360 GRCh37 Chromosome 2, 242707149: 242707149
2 D2HGDH NM_152783.4(D2HGDH): c.1331T> C (p.Val444Ala) single nucleotide variant Pathogenic rs121434360 GRCh38 Chromosome 2, 241767734: 241767734
3 D2HGDH NM_152783.4(D2HGDH): c.440T> G (p.Ile147Ser) single nucleotide variant Pathogenic rs121434361 GRCh37 Chromosome 2, 242681939: 242681939
4 D2HGDH NM_152783.4(D2HGDH): c.440T> G (p.Ile147Ser) single nucleotide variant Pathogenic rs121434361 GRCh38 Chromosome 2, 241742524: 241742524
5 D2HGDH D2HGDH, IVS1AS, A-G, -23 single nucleotide variant Pathogenic
6 D2HGDH D2HGDH, IVS4AS, A-G, -2 single nucleotide variant Pathogenic
7 D2HGDH NM_152783.4(D2HGDH): c.1315A> G (p.Asn439Asp) single nucleotide variant Pathogenic rs121434362 GRCh37 Chromosome 2, 242707133: 242707133
8 D2HGDH NM_152783.4(D2HGDH): c.1315A> G (p.Asn439Asp) single nucleotide variant Pathogenic rs121434362 GRCh38 Chromosome 2, 241767718: 241767718
9 D2HGDH D2HGDH, 2-BP DUP, 326TC duplication Pathogenic
10 D2HGDH NM_152783.4(D2HGDH): c.1123G> T (p.Asp375Tyr) single nucleotide variant Pathogenic rs267606759 GRCh37 Chromosome 2, 242690786: 242690786
11 D2HGDH NM_152783.4(D2HGDH): c.1123G> T (p.Asp375Tyr) single nucleotide variant Pathogenic rs267606759 GRCh38 Chromosome 2, 241751371: 241751371
12 D2HGDH NM_152783.4(D2HGDH): c.43C> G (p.Arg15Gly) single nucleotide variant Benign/Likely benign rs4675887 GRCh37 Chromosome 2, 242674682: 242674682
13 D2HGDH NM_152783.4(D2HGDH): c.43C> G (p.Arg15Gly) single nucleotide variant Benign/Likely benign rs4675887 GRCh38 Chromosome 2, 241735267: 241735267
14 D2HGDH NM_152783.4(D2HGDH): c.164G> A (p.Arg55Gln) single nucleotide variant Benign/Likely benign rs77940364 GRCh37 Chromosome 2, 242674803: 242674803
15 D2HGDH NM_152783.4(D2HGDH): c.164G> A (p.Arg55Gln) single nucleotide variant Benign/Likely benign rs77940364 GRCh38 Chromosome 2, 241735388: 241735388
16 D2HGDH NM_152783.4(D2HGDH): c.292+9G> A single nucleotide variant Likely benign rs148813816 GRCh37 Chromosome 2, 242674940: 242674940
17 D2HGDH NM_152783.4(D2HGDH): c.292+9G> A single nucleotide variant Likely benign rs148813816 GRCh38 Chromosome 2, 241735525: 241735525
18 D2HGDH NM_152783.4(D2HGDH): c.423C> T (p.Pro141=) single nucleotide variant Conflicting interpretations of pathogenicity rs142473303 GRCh37 Chromosome 2, 242681922: 242681922
19 D2HGDH NM_152783.4(D2HGDH): c.423C> T (p.Pro141=) single nucleotide variant Conflicting interpretations of pathogenicity rs142473303 GRCh38 Chromosome 2, 241742507: 241742507
20 D2HGDH NM_152783.4(D2HGDH): c.566C> T (p.Pro189Leu) single nucleotide variant Pathogenic rs587783517 GRCh37 Chromosome 2, 242683112: 242683112
21 D2HGDH NM_152783.4(D2HGDH): c.566C> T (p.Pro189Leu) single nucleotide variant Pathogenic rs587783517 GRCh38 Chromosome 2, 241743697: 241743697
22 D2HGDH NM_152783.4(D2HGDH): c.685-9T> C single nucleotide variant Benign/Likely benign rs4234097 GRCh37 Chromosome 2, 242684115: 242684115
23 D2HGDH NM_152783.4(D2HGDH): c.685-9T> C single nucleotide variant Benign/Likely benign rs4234097 GRCh38 Chromosome 2, 241744700: 241744700
24 D2HGDH NM_152783.4(D2HGDH): c.1012G> A (p.Val338Ile) single nucleotide variant Benign/Likely benign rs1106639 GRCh37 Chromosome 2, 242690675: 242690675
25 D2HGDH NM_152783.4(D2HGDH): c.1012G> A (p.Val338Ile) single nucleotide variant Benign/Likely benign rs1106639 GRCh38 Chromosome 2, 241751260: 241751260
26 D2HGDH NM_152783.4(D2HGDH): c.1066C> T (p.His356Tyr) single nucleotide variant Likely benign rs144668507 GRCh37 Chromosome 2, 242690729: 242690729
27 D2HGDH NM_152783.4(D2HGDH): c.1066C> T (p.His356Tyr) single nucleotide variant Likely benign rs144668507 GRCh38 Chromosome 2, 241751314: 241751314
28 D2HGDH NM_152783.4(D2HGDH): c.1082C> T (p.Ala361Val) single nucleotide variant Benign/Likely benign rs1105273 GRCh37 Chromosome 2, 242690745: 242690745
29 D2HGDH NM_152783.4(D2HGDH): c.1082C> T (p.Ala361Val) single nucleotide variant Benign/Likely benign rs1105273 GRCh38 Chromosome 2, 241751330: 241751330
30 D2HGDH NM_152783.4(D2HGDH): c.1107T> C (p.Asp369=) single nucleotide variant Likely benign rs141343442 GRCh37 Chromosome 2, 242690770: 242690770
31 D2HGDH NM_152783.4(D2HGDH): c.1107T> C (p.Asp369=) single nucleotide variant Likely benign rs141343442 GRCh38 Chromosome 2, 241751355: 241751355
32 D2HGDH NM_152783.4(D2HGDH): c.1184G> A (p.Arg395Gln) single nucleotide variant Uncertain significance rs201921601 GRCh37 Chromosome 2, 242695307: 242695307
33 D2HGDH NM_152783.4(D2HGDH): c.1184G> A (p.Arg395Gln) single nucleotide variant Uncertain significance rs201921601 GRCh38 Chromosome 2, 241755892: 241755892
34 D2HGDH NM_152783.4(D2HGDH): c.1258G> A (p.Ala420Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149504235 GRCh37 Chromosome 2, 242695381: 242695381
35 D2HGDH NM_152783.4(D2HGDH): c.1258G> A (p.Ala420Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149504235 GRCh38 Chromosome 2, 241755966: 241755966
36 D2HGDH NM_152783.4(D2HGDH): c.1276G> A (p.Ala426Thr) single nucleotide variant Likely benign rs146578303 GRCh37 Chromosome 2, 242695399: 242695399
37 D2HGDH NM_152783.4(D2HGDH): c.1276G> A (p.Ala426Thr) single nucleotide variant Likely benign rs146578303 GRCh38 Chromosome 2, 241755984: 241755984
38 D2HGDH NM_152783.4(D2HGDH): c.1377C> A (p.Pro459=) single nucleotide variant Likely benign rs143940595 GRCh37 Chromosome 2, 242707195: 242707195
39 D2HGDH NM_152783.4(D2HGDH): c.1377C> A (p.Pro459=) single nucleotide variant Likely benign rs143940595 GRCh38 Chromosome 2, 241767780: 241767780
40 D2HGDH NM_152783.4(D2HGDH): c.1395G> A (p.Thr465=) single nucleotide variant Likely benign rs111670322 GRCh37 Chromosome 2, 242707213: 242707213
41 D2HGDH NM_152783.4(D2HGDH): c.1395G> A (p.Thr465=) single nucleotide variant Likely benign rs111670322 GRCh38 Chromosome 2, 241767798: 241767798
42 D2HGDH NM_152783.4(D2HGDH): c.1027delT (p.Ser343Glnfs) deletion Pathogenic rs797045506 GRCh38 Chromosome 2, 241751275: 241751275
43 D2HGDH NM_152783.4(D2HGDH): c.1063G> A (p.Gly355Ser) single nucleotide variant Likely benign rs139321130 GRCh38 Chromosome 2, 241751311: 241751311
44 D2HGDH NM_152783.4(D2HGDH): c.1027delT (p.Ser343Glnfs) deletion Pathogenic rs797045506 GRCh37 Chromosome 2, 242690690: 242690690
45 D2HGDH NM_152783.4(D2HGDH): c.1063G> A (p.Gly355Ser) single nucleotide variant Likely benign rs139321130 GRCh37 Chromosome 2, 242690726: 242690726
46 D2HGDH NM_152783.4(D2HGDH): c.1140+8G> A single nucleotide variant Uncertain significance rs369135156 GRCh38 Chromosome 2, 241751396: 241751396
47 D2HGDH NM_152783.4(D2HGDH): c.1140+8G> A single nucleotide variant Uncertain significance rs369135156 GRCh37 Chromosome 2, 242690811: 242690811
48 D2HGDH NM_152783.4(D2HGDH): c.1272G> A (p.Pro424=) single nucleotide variant Uncertain significance rs375565047 GRCh38 Chromosome 2, 241755980: 241755980
49 D2HGDH NM_152783.4(D2HGDH): c.1272G> A (p.Pro424=) single nucleotide variant Uncertain significance rs375565047 GRCh37 Chromosome 2, 242695395: 242695395
50 D2HGDH NM_152783.4(D2HGDH): c.1306+2T> C single nucleotide variant Likely pathogenic rs797045507 GRCh37 Chromosome 2, 242695431: 242695431

Expression for D-2-Hydroxyglutaric Aciduria 1

Search GEO for disease gene expression data for D-2-Hydroxyglutaric Aciduria 1.

Pathways for D-2-Hydroxyglutaric Aciduria 1

Pathways related to D-2-Hydroxyglutaric Aciduria 1 according to KEGG:

37
# Name Kegg Source Accession
1 Citrate cycle (TCA cycle) hsa00020
2 Glutathione metabolism hsa00480

GO Terms for D-2-Hydroxyglutaric Aciduria 1

Cellular components related to D-2-Hydroxyglutaric Aciduria 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.56 ADHFE1 D2HGDH DECR1 GCDH GLS2 IDH1
2 postsynaptic density membrane GO:0098839 9.32 GRIN2A GRIN2B
3 synaptic membrane GO:0097060 9.26 GRIN2A GRIN2B
4 NMDA selective glutamate receptor complex GO:0017146 9.16 GRIN2A GRIN2B
5 mitochondrial matrix GO:0005759 9.1 ADHFE1 D2HGDH DECR1 GCDH GLS2 IDH2

Biological processes related to D-2-Hydroxyglutaric Aciduria 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.5 ADHFE1 D2HGDH DECR1 GCDH IDH1 IDH2
2 tricarboxylic acid cycle GO:0006099 9.48 IDH1 IDH2
3 ionotropic glutamate receptor signaling pathway GO:0035235 9.46 GRIN2A GRIN2B
4 bone resorption GO:0045453 9.43 ACP5 PTH1R
5 glutamate receptor signaling pathway GO:0007215 9.4 GRIN2A GRIN2B
6 excitatory chemical synaptic transmission GO:0098976 9.37 GRIN2A GRIN2B
7 calcium ion transmembrane import into cytosol GO:0097553 9.32 GRIN2A GRIN2B
8 isocitrate metabolic process GO:0006102 9.26 IDH1 IDH2
9 glyoxylate cycle GO:0006097 9.16 IDH1 IDH2
10 2-oxoglutarate metabolic process GO:0006103 9.02 ADHFE1 D2HGDH IDH1 IDH2 L2HGDH

Molecular functions related to D-2-Hydroxyglutaric Aciduria 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 magnesium ion binding GO:0000287 9.65 GSS IDH1 IDH2
2 ionotropic glutamate receptor activity GO:0004970 9.46 GRIN2A GRIN2B
3 extracellularly glutamate-gated ion channel activity GO:0005234 9.43 GRIN2A GRIN2B
4 glycine binding GO:0016594 9.4 GRIN2B GSS
5 NMDA glutamate receptor activity GO:0004972 9.37 GRIN2A GRIN2B
6 glutamate-gated calcium ion channel activity GO:0022849 9.32 GRIN2A GRIN2B
7 (R)-2-hydroxyglutarate dehydrogenase activity GO:0051990 9.26 D2HGDH IDH1
8 oxidoreductase activity GO:0016491 9.17 ADHFE1 D2HGDH DECR1 GCDH IDH1 IDH2
9 isocitrate dehydrogenase activity GO:0004448 9.16 IDH1 IDH2
10 isocitrate dehydrogenase (NADP+) activity GO:0004450 8.96 IDH1 IDH2

Sources for D-2-Hydroxyglutaric Aciduria 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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