MCID: D2H001
MIFTS: 43

D-2-Hydroxyglutaric Aciduria malady

Neuronal diseases, Metabolic diseases categories

Summaries for D-2-Hydroxyglutaric Aciduria

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8Disease Ontology, 46OMIM, 32MalaCards
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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 Glutathione metabolism and Peroxisome. The compounds Isocitric Acid and isocitrate have been mentioned in the context of this disorder. Affiliated tissues include brain and skeletal muscle.

Description from OMIM:46 600721,613657

Aliases & Classifications for D-2-Hydroxyglutaric Aciduria

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8Disease Ontology, 9diseasecard, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
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 46 10 48
combined d-2- and l-2-hydroxyglutaric aciduria 60
d-2-hydroxyglutaric acidemia 48
d-2-hga 48


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

Clinical Features for D-2-Hydroxyglutaric Aciduria

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46OMIM
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Clinical features from OMIM:

600721,613657

Clinical synopsis from OMIM:

600721

Drugs & Therapeutics for D-2-Hydroxyglutaric Aciduria

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for D-2-Hydroxyglutaric Aciduria

Drug clinical trials:

Search ClinicalTrials for D-2-Hydroxyglutaric Aciduria

Search NIH Clinical Center for D-2-Hydroxyglutaric Aciduria

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to D-2-Hydroxyglutaric Aciduria:

32
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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50PubMed
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Articles related to D-2-Hydroxyglutaric Aciduria:

(show all 35)
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 the D-2-hydroxyglutarate dehydrogenase gene cause D-2- hydroxyglutaric aciduria. (15609246)
2005
12
Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma- hydroxybutyric acidurias. (16435184)
2005
13
Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. (16037974)
2005
14
Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins. (16081310)
2005
15
D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders? (15248096)
2004
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: a case with an intermediate phenotype and prenatal diagnosis of two affected fetuses. (12884432)
2003
18
Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination. (12868470)
2003
19
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
20
D-2-Hydroxyglutaric aciduria with absence of corpus callosum and neonatal intracranial haemorrhage. (12872850)
2003
21
D-2-Hydroxyglutaric aciduria in a patient with a severe clinical phenotype and unusual MRI findings. (11999977)
2002
22
NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria. (12153528)
2002
23
D-2-Hydroxyglutaric aciduria and subdural haemorrhage. (12162609)
2002
24
D-2-hydroxyglutaric aciduria with cerebral, vascular, and muscular abnormalities in a 14-year-old boy. (10921524)
2000
25
D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis. (10883451)
2000
26
Facial anomalies in D-2-hydroxyglutaric aciduria. (10449646)
1999
27
D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity? (9894884)
1999
28
D-2-hydroxyglutaric aciduria: further clinical delineation. (10407777)
1999
29
D-2-hydroxyglutaric aciduria: evidence of clinical and biochemical heterogeneity. (9686368)
1998
30
D-2-hydroxyglutaric aciduria: hypotonia, cortical blindness, seizures, cardiomyopathy, and cylindrical spirals in skeletal muscle. (9010793)
1997
31
D-2-hydroxyglutaric aciduria. (7782605)
1995
32
Clinical and MRI findings in a case of D-2-hydroxyglutaric aciduria. (7625550)
1995
33
D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction. (7515241)
1994
34
D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder? (7609436)
1993
35
D-2-hydroxyglutaric aciduria: case report and biochemical studies. (6774165)
1980

Genetic Variations for D-2-Hydroxyglutaric Aciduria

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62UniProtKB/Swiss-Prot
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Genetic disease variations for D-2-Hydroxyglutaric Aciduria:

62
id Symbol AA change Variation ID SNP ID
1D2HGDHp.Ile147SerVAR_025890
2D2HGDHp.Asp375TyrVAR_025891
3D2HGDHp.Asn439AspVAR_025893
4D2HGDHp.Val444AlaVAR_025894

Expression for genes affiliated with D-2-Hydroxyglutaric Aciduria

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1BioGPS, 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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29KEGG, 37NCBI BioSystems Database, 53Reactome
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Compounds for genes affiliated with D-2-Hydroxyglutaric Aciduria

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11DrugBank, 24HMDB, 44Novoseek
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Compounds related to D-2-Hydroxyglutaric Aciduria according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Isocitric Acid11 2410.8IDH2, IDH1
2isocitrate449.6IDH2, IDH1
3glucose 6-phosphate44 2410.2GLS2, IDH1
4carbon dioxide44 2410.2GCDH, IDH1, IDH2
5alpha-ketoglutarate448.8ALDH5A1, GLS2, IDH1
6glutamine448.4ALDH5A1, GLS2, 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 inner membraneGO:0057438.5ATP5O, IDH2, L2HGDH, GCDH
2mitochondrial matrixGO:0057597.7GCDH, IDH2, D2HGDH, GLS2, ALDH5A1
3mitochondrionGO:0057396.3ALDH5A1, GCDH, L2HGDH, IDH1, IDH2, D2HGDH

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1glyoxylate cycleGO:0060979.8IDH2, IDH1
2isocitrate metabolic processGO:0061029.8IDH2, IDH1
3tricarboxylic acid cycleGO:0060999.7IDH1, IDH2
4glutathione metabolic processGO:0067499.4ALDH5A1, IDH1
5respiratory electron transport chainGO:0229049.4ALDH5A1, ATP5O
6glutamine metabolic processGO:0065419.2ALDH5A1, GLS2
72-oxoglutarate metabolic processGO:0061038.9D2HGDH, IDH2, IDH1, L2HGDH
8neurotransmitter secretionGO:0072698.8ALDH5A1, GLS2
9cellular metabolic processGO:0442378.8L2HGDH, IDH2, D2HGDH, ATP5O
10small molecule metabolic processGO:0442817.1GCDH, L2HGDH, IDH1, IDH2, D2HGDH, ATP5O

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

idNameGO IDScoreTop Affiliating Genes
1flavin adenine dinucleotide bindingGO:0506609.7D2HGDH, GCDH
2isocitrate dehydrogenase (NADP+) activityGO:0044509.6IDH2, IDH1
3NAD bindingGO:0512879.4IDH2, IDH1

Products for genes affiliated with D-2-Hydroxyglutaric Aciduria

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Sources for D-2-Hydroxyglutaric Aciduria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet