MCID: D2H001
MIFTS: 46

D-2-Hydroxyglutaric Aciduria malady

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

Aliases & Classifications for D-2-Hydroxyglutaric Aciduria

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Aliases & Descriptions for D-2-Hydroxyglutaric Aciduria:

Name: D-2-Hydroxyglutaric Aciduria 49 10 11 12 51 65
D-2-Hydroxyglutaric Aciduria 1 22 67 24 65
D2hga1 22 67
Combined D-2- and L-2-Hydroxyglutaric Aciduria 65
 
D-2-Hydroxyglutaric Acidemia 51
D-2-Hga 51
D2ha 67

Characteristics:

Orphanet epidemiological data:

51
d-2-hydroxyglutaric aciduria:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age

HPO:

61
d-2-hydroxyglutaric aciduria:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 600721
Disease Ontology10 DOID:0050575
Orphanet51 79315
ICD10 via Orphanet28 E72.8
MeSH36 D020739
UMLS65 C1833429, C2746066, C3152055

Summaries for D-2-Hydroxyglutaric Aciduria

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OMIM:49 D-2-hydroxyglutaric aciduria is a neurometabolic disorder first described by Chalmers et al. (1980). Clinical symptoms... (600721) more...

MalaCards based summary: D-2-Hydroxyglutaric Aciduria, also known as d-2-hydroxyglutaric aciduria 1, is related to d-2-hydroxyglutaric aciduria 2 and metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria, and has symptoms including d-2-hydroxyglutaric aciduria, prominent forehead and infantile encephalopathy. An important gene associated with D-2-Hydroxyglutaric Aciduria is D2HGDH (D-2-Hydroxyglutarate Dehydrogenase), and among its related pathways are nNOS Signaling at Neuronal Synapses and Hypothetical Network for Drug Addiction. Affiliated tissues include brain, bone and heart.

Disease Ontology:10 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.

UniProtKB/Swiss-Prot:67 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

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Diseases in the D-2-Hydroxyglutaric Aciduria family:

D-2-Hydroxyglutaric Aciduria 2 D-2-Alpha Hydroxyglutaric Aciduria
D,l-2-Hydroxyglutaric Aciduria

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1d-2-hydroxyglutaric aciduria 212.4
2metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria12.2
3d,l-2-hydroxyglutaric aciduria11.4
4d-2-alpha hydroxyglutaric aciduria11.0
5paranasal sinus lymphoma10.7IDH1, IDH2
6brain oligodendroglioma10.7IDH1, IDH2
7enchondromatosis dwarfism deafness10.7IDH1, IDH2
8mixed astrocytoma-ependymoma10.7IDH1, IDH2
9congenital disorder of glycosylation, type if10.7IDH1, IDH2
10juxtacortical osteosarcoma10.7IDH1, IDH2
11diencephalic astrocytomas10.7IDH1, IDH2
12anaplastic plasmacytoma10.7IDH1, IDH2
13breast myofibroblastoma10.7IDH1, IDH2
14bone marrow cancer10.6IDH1, IDH2
15grade iii astrocytoma10.6IDH1, IDH2
16colon small cell carcinoma10.6IDH1, IDH2
17myositis ossificans10.6IDH1, IDH2
18panuveitis10.5IDH1, IDH2
19conjunctiva squamous cell carcinoma10.5IDH1, IDH2
20seckel syndrome 710.4GLS2, L2HGDH
21childhood cerebral astrocytoma10.4IDH1, IDH2
222-hydroxyglutaric aciduria10.3
23hernia of ovary and fallopian tube10.2ACP5, PTH1R
24mucocele of appendix10.2ACP5, PTH1R
25combined d-2- and l-2-hydroxyglutaric aciduria10.1
26gastric papillary adenocarcinoma10.1IDH1, IDH2
27chorioamnionitis10.1GRIN2A, GRIN2B
28l-2-hydroxyglutaric aciduria10.0
29peripheral neuropathy10.0
30cortical blindness10.0
31cerebritis10.0
32neuropathy10.0
33cardiomyopathy10.0
34hypotonia10.0
35zika fever10.0GRIN2A, GRIN2B
36partial fetal alcohol syndrome9.9GRIN2A, GRIN2B
37agraphia9.9ACP5, IDH1, IDH2, PTH1R
38hydranencephaly9.9ACP5, IDH1, IDH2, PTH1R
39hereditary lymphedema9.8ALDH5A1, D2HGDH, GCDH, IDH1, IDH2, L2HGDH
40d-2-hydroxyglutaric aciduria5.2ACP5, ADHFE1, ALDH5A1, D2HGDH, DECR1, GCDH

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



Diseases related to d-2-hydroxyglutaric aciduria

Symptoms for D-2-Hydroxyglutaric Aciduria

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Symptoms by clinical synopsis from OMIM:

600721

Clinical features from OMIM:

600721

HPO human phenotypes related to D-2-Hydroxyglutaric Aciduria:

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

UMLS symptoms related to D-2-Hydroxyglutaric Aciduria:


muscle weakness, seizures, stridor, dyspnea

Drugs & Therapeutics for D-2-Hydroxyglutaric Aciduria

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for D-2-Hydroxyglutaric Aciduria

Genetic Tests for D-2-Hydroxyglutaric Aciduria

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Genetic tests related to D-2-Hydroxyglutaric Aciduria:

id Genetic test Affiliating Genes
1 D-2-Hydroxyglutaric Aciduria 122 D2HGDH

Anatomical Context for D-2-Hydroxyglutaric Aciduria

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

33
Brain, Bone, Heart, Thyroid, Appendix, Ovary, Breast

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

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Publications for D-2-Hydroxyglutaric Aciduria

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Articles related to D-2-Hydroxyglutaric Aciduria:

(show all 34)
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
34

Variations for D-2-Hydroxyglutaric Aciduria

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

67
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1D2HGDHNM_152783.4(D2HGDH): c.566C> T (p.Pro189Leu)single nucleotide variantPathogenicrs587783517GRCh37Chr 2, 242683112: 242683112
2D2HGDHNM_152783.4(D2HGDH): c.1331T> C (p.Val444Ala)single nucleotide variantPathogenicrs121434360GRCh37Chr 2, 242707149: 242707149
3D2HGDHNM_152783.4(D2HGDH): c.440T> G (p.Ile147Ser)single nucleotide variantPathogenicrs121434361GRCh37Chr 2, 242681939: 242681939
4D2HGDHD2HGDH, IVS1AS, A-G, -23single nucleotide variantPathogenic
5D2HGDHD2HGDH, IVS4AS, A-G, -2single nucleotide variantPathogenic
6D2HGDHNM_152783.4(D2HGDH): c.1315A> G (p.Asn439Asp)single nucleotide variantPathogenicrs121434362GRCh37Chr 2, 242707133: 242707133
7D2HGDHD2HGDH, 2-BP DUP, 326TCduplicationPathogenic
8D2HGDHNM_152783.4(D2HGDH): c.1123G> T (p.Asp375Tyr)single nucleotide variantPathogenicrs267606759GRCh37Chr 2, 242690786: 242690786

Expression for genes affiliated with D-2-Hydroxyglutaric Aciduria

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

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

idNameGO IDScoreTop Affiliating Genes
1NMDA selective glutamate receptor complexGO:00171469.6GRIN2A, GRIN2B

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

idNameGO IDScoreTop Affiliating Genes
12-oxoglutarate metabolic processGO:000610310.4IDH1, L2HGDH
2tricarboxylic acid cycleGO:000609910.3IDH1, IDH2
3neurotransmitter secretionGO:00072699.9ALDH5A1, GLS2
4glutathione metabolic processGO:00067499.9ALDH5A1, IDH1
5cellular metabolic processGO:00442379.6ADHFE1, D2HGDH
6glutamine metabolic processGO:00065419.6ALDH5A1, GLS2

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

idNameGO IDScoreTop Affiliating Genes
1flavin adenine dinucleotide bindingGO:005066010.0D2HGDH, GCDH

Sources for D-2-Hydroxyglutaric Aciduria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet