MCID: D2H001
MIFTS: 43

D-2-Hydroxyglutaric Aciduria malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for D-2-Hydroxyglutaric Aciduria

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8Disease Ontology, 47OMIM, 33MalaCards
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Disease Ontology:8 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.

MalaCards: D-2-Hydroxyglutaric Aciduria, also known as combined d-2- and l-2-hydroxyglutaric aciduria, is related to l-2-hydroxyglutaric aciduria and d-2-hydroxyglutaric aciduria 2. An important gene associated with D-2-Hydroxyglutaric Aciduria is D2HGDH (D-2-hydroxyglutarate dehydrogenase), and among its related pathways are Peroxisome and Carbon metabolism. The compounds Oxalosuccinic acid and Isocitric acid have been mentioned in the context of this disorder. Affiliated tissues include brain and skeletal muscle.

Description from OMIM:47 600721,613657

Aliases & Classifications for D-2-Hydroxyglutaric Aciduria

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8Disease Ontology, 9diseasecard, 47OMIM, 10DISEASES, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

49
d-2-hydroxyglutaric aciduria:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

d-2-hydroxyglutaric aciduria 8 9 47 10 49
combined d-2- and l-2-hydroxyglutaric aciduria 62
d-2-hydroxyglutaric acidemia 49
d-2-hga 49


External Ids:

Disease Ontology8 DOID:0050575
ICD10 via Orphanet26 E72.8

Related Diseases for D-2-Hydroxyglutaric Aciduria

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to D-2-Hydroxyglutaric Aciduria:



Diseases related to d-2-hydroxyglutaric aciduria

Symptoms for D-2-Hydroxyglutaric Aciduria

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47OMIM
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Symptoms by clinical synopsis from OMIM:

600721

Clinical features from OMIM:

600721,613657

Drugs & Therapeutics for D-2-Hydroxyglutaric Aciduria

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for D-2-Hydroxyglutaric Aciduria

Search NIH Clinical Center for D-2-Hydroxyglutaric Aciduria

Genetic Tests for D-2-Hydroxyglutaric Aciduria

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Anatomical Context for D-2-Hydroxyglutaric Aciduria

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33MalaCards
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MalaCards organs/tissues related to D-2-Hydroxyglutaric Aciduria:

33
Brain, Skeletal muscle

Animal Models for D-2-Hydroxyglutaric Aciduria or affiliated genes

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Publications for D-2-Hydroxyglutaric Aciduria

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52PubMed
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Articles related to D-2-Hydroxyglutaric Aciduria:

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

Variations for D-2-Hydroxyglutaric Aciduria

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for D-2-Hydroxyglutaric Aciduria:

64
id Symbol AA change Variation ID SNP ID
1D2HGDHp.Ile147SerVAR_025890
2D2HGDHp.Asp375TyrVAR_025891
3D2HGDHp.Asn439AspVAR_025893
4D2HGDHp.Val444AlaVAR_025894

Clinvar genetic disease variations for D-2-Hydroxyglutaric Aciduria:

1 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1D2HGDHNM_152783.4(D2HGDH): c.1331T> C (p.Val444Ala)single nucleotide variantPathogenicrs121434360GRCh37Chr 2, 242707149: 242707149
2D2HGDHNM_152783.4(D2HGDH): c.440T> G (p.Ile147Ser)single nucleotide variantPathogenicrs121434361GRCh37Chr 2, 242681939: 242681939
3D2HGDHD2HGDH, IVS1, A-G, -23single nucleotide variantPathogenic
4D2HGDHD2HGDH, IVS4, A-G, -2single nucleotide variantPathogenic
5D2HGDHNM_152783.4(D2HGDH): c.1315A> G (p.Asn439Asp)single nucleotide variantPathogenicrs121434362GRCh37Chr 2, 242707133: 242707133
6D2HGDHD2HGDH, 2-BP DUP, 326TCduplicationPathogenic
7D2HGDHNM_152783.4(D2HGDH): c.1123G> T (p.Asp375Tyr)single nucleotide variantPathogenicrs267606759GRCh37Chr 2, 242690786: 242690786
8SLC25A1NM_005984.4(SLC25A1): c.844C> G (p.Arg282Gly)single nucleotide variantPathogenicrs431905509GRCh37Chr 22, 19163735: 19163735
9SLC25A1NM_005984.4(SLC25A1): c.844C> T (p.Arg282Cys)single nucleotide variantPathogenicrs431905509GRCh37Chr 22, 19163735: 19163735
10SLC25A1NM_005984.4(SLC25A1): c.845G> A (p.Arg282His)single nucleotide variantPathogenicrs431905510GRCh37Chr 22, 19163734: 19163734
11SLC25A1NM_005984.4(SLC25A1): c.389G> A (p.Gly130Asp)single nucleotide variantPathogenicrs368647424GRCh37Chr 22, 19165292: 19165292
12SLC25A1NM_005984.4(SLC25A1): c.821C> T (p.Ala274Val)single nucleotide variantPathogenicrs483352910GRCh37Chr 22, 19163934: 19163934
13SLC25A1NM_005984.4(SLC25A1): c.517_526delCGGGAACAAG (p.Arg173Glyfs)deletionPathogenicrs483352911GRCh37Chr 22, 19164633: 19164642

Expression for genes affiliated with D-2-Hydroxyglutaric Aciduria

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with D-2-Hydroxyglutaric Aciduria

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

Pathways for genes affiliated with D-2-Hydroxyglutaric Aciduria

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50PathCards, 30KEGG, 51PharmGKB, 38NCBI BioSystems Database, 55Reactome, 60Thomson Reuters
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Pathways related to D-2-Hydroxyglutaric Aciduria according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6IDH1, IDH2
2
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
9.6IDH2, IDH1
3
Show member pathways
glutathione-mediated detoxification I38
glutathione redox reactions I38
glutathione redox reactions II38
4-hydroxy-2-nonenal detoxification38
Glutathione metabolism60
Glutathione metabolism38
9.6IDH2, IDH1
4
Show member pathways
9.0ALDH5A1, L2HGDH
5
Show member pathways
TCA cycle38
pyruvate decarboxylation to acetyl CoA38
NAD phosphorylation and dephosphorylation38
TCA Cycle38
conversion of glucose to acetyl CoA and entry into the TCA cycle38
8.4L2HGDH, D2HGDH, IDH1, IDH2
6
Show member pathways
8.3L2HGDH, D2HGDH, IDH2, ATP5O
7
Show member pathways
6.7GCDH, ALDH5A1, D2HGDH, IDH1, IDH2, ATP5O

Compounds for genes affiliated with D-2-Hydroxyglutaric Aciduria

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24HMDB, 11DrugBank, 45Novoseek
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Compounds related to D-2-Hydroxyglutaric Aciduria according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Oxalosuccinic acid249.8IDH1, IDH2
2Isocitric acid24 1110.8IDH1, IDH2
3isocitrate459.6IDH1, IDH2
4NADP249.6IDH1, IDH2
5alpha-ketoglutarate459.3ALDH5A1, IDH1
6carbon dioxide45 2410.3IDH2, IDH1, GCDH
7FADH249.2GCDH, L2HGDH
8Oxoglutaric acid249.0L2HGDH, IDH1, IDH2
9FAD248.8D2HGDH, L2HGDH, GCDH
10magnesium45 24 1110.8ATP5O, IDH2, IDH1

GO Terms for genes affiliated with D-2-Hydroxyglutaric Aciduria

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16Gene Ontology
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Cellular components related to D-2-Hydroxyglutaric Aciduria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:0057598.2D2HGDH, ALDH5A1, GCDH, IDH2
2mitochondrial inner membraneGO:0057438.2ATP5O, IDH2, L2HGDH, GCDH
3mitochondrionGO:0057396.6GCDH, ATP5O, IDH2, IDH1, D2HGDH, ALDH5A1

Biological processes related to D-2-Hydroxyglutaric Aciduria according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1glyoxylate cycleGO:0060979.7IDH1, IDH2
2isocitrate metabolic processGO:0061029.6IDH2, IDH1
3tricarboxylic acid cycleGO:0060999.5IDH1, IDH2
4respiratory electron transport chainGO:0229049.3ALDH5A1, ATP5O
5glutathione metabolic processGO:0067499.1ALDH5A1, IDH1
62-oxoglutarate metabolic processGO:0061038.6L2HGDH, D2HGDH, IDH1, IDH2
7cellular metabolic processGO:0442378.5ATP5O, IDH2, D2HGDH, L2HGDH
8small molecule metabolic processGO:0442817.5ATP5O, IDH2, IDH1, D2HGDH, L2HGDH, GCDH

Molecular functions related to D-2-Hydroxyglutaric Aciduria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1flavin adenine dinucleotide bindingGO:0506609.6GCDH, D2HGDH
2isocitrate dehydrogenase (NADP+) activityGO:0044509.5IDH1, IDH2
3NAD bindingGO:0512879.3IDH1, IDH2

Products for genes affiliated with D-2-Hydroxyglutaric Aciduria

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Sources for D-2-Hydroxyglutaric Aciduria

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet