MCID: D2H001
MIFTS: 47

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, lung and bone.

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 top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1d-2-hydroxyglutaric aciduria 212.8
2metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria12.5
3d,l-2-hydroxyglutaric aciduria11.5
4d-2-alpha hydroxyglutaric aciduria11.4
52-hydroxyglutaric aciduria10.7
6combined d-2- and l-2-hydroxyglutaric aciduria10.5
7paranasal sinus lymphoma10.5IDH1, IDH2
8brain oligodendroglioma10.5IDH1, IDH2
9enchondromatosis dwarfism deafness10.5IDH1, IDH2
10mixed astrocytoma-ependymoma10.5IDH1, IDH2
11congenital disorder of glycosylation, type if10.5IDH1, IDH2
12juxtacortical osteosarcoma10.5IDH1, IDH2
13diencephalic astrocytomas10.4IDH1, IDH2
14anaplastic plasmacytoma10.4IDH1, IDH2
15breast myofibroblastoma10.4IDH1, IDH2
16bone marrow cancer10.4IDH1, IDH2
17grade iii astrocytoma10.4IDH1, IDH2
18colon small cell carcinoma10.4IDH1, IDH2
19myositis ossificans10.4IDH1, IDH2
20panuveitis10.3IDH1, IDH2
21conjunctiva squamous cell carcinoma10.3IDH1, IDH2
22myocardial infarction10.3
23melkersson-rosenthal syndrome10.3
24obsessive-compulsive disorder10.3
25retinoblastoma10.3
26angina pectoris10.3
27acute myocardial infarction10.3
28neutropenia10.3
29severe congenital neutropenia10.3
30lymphoma10.3
31heart disease10.3
32otosclerosis10.3
33osteogenesis imperfecta10.3
34dermatitis10.3
35adenocarcinoma10.3
36acinar cell carcinoma10.3
37food allergy10.3
38atopic dermatitis10.3
39pleomorphic adenoma10.3
40intestinal disease10.3
41adenoma10.3
42premenstrual tension10.3
43scabies10.3
44herpes simplex10.3
45bacterial meningitis10.3
46meningitis10.3
47head injury10.3
48seckel syndrome 710.3GLS2, L2HGDH
49childhood cerebral astrocytoma10.2IDH1, IDH2
50hernia of ovary and fallopian tube10.1ACP5, PTH1R

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

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, Lung, Bone, Heart, Smooth muscle, B cells, Thyroid

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 33)
idTitleAuthorsYear
1
Pharmacogenetics of pemetrexed combination therapy in lung cancer: pathway analysis reveals novel toxicity associations. (24732178)
2014
2
From isolation to implantation: a concise review of mesenchymal stem cell therapy in bone fracture repair. (25099622)
2014
3
Identifying Which Patients With Asymptomatic Carotid Stenosis Could Benefit From Intervention. (25358698)
2014
4
Seven days of non-invasive cardiac monitoring early postischaemic stroke or TIA increases atrial fibrillation detection rate compared with current guideline-based practice. (24284313)
2013
5
Development of a rapid dipstick with latex immunochromatographic assay (DLIA) for diagnosis of schistosomiasis japonica. (21824443)
2011
6
Application of magnetic-resonance-spectroscopy- based metabolomics to the fine-needle aspiration diagnosis of papillary thyroid carcinoma. (22156470)
2011
7
Can radiotherapy be a viable salvage treatment option for the relapsed seminoma confined to the infra-diaphragm region recurring after primary chemotherapy for bulky stage II seminoma? (20944793)
2010
8
ERK involvement in resistance to apoptosis in keratinocytes with mutant keratin. (19847192)
2010
9
Improvement in the field of binocular single vision following bilateral phacoemulsification with toric intraocular lens implantation in a patient with a partial third nerve palsy. (21168083)
2010
10
Heart rate variability of young men with idiopathic hypogonadotropic hypogonadism. (19766543)
2010
11
Predicting the site of attachment of sinonasal inverted papilloma. (19936356)
2009
12
Polymorphism of TPH gene T3792A locus in Han ethnic group of north China]. (19241972)
2008
13
The localization, trafficking and retrograde transport of BDNF bound to p75NTR in sympathetic neurons. (16843677)
2006
14
Guidelines for the diagnosis and treatment of latent tuberculosis infection and active tuberculosis in patients with inflammatory joint diseases proposed for treatment with tumour necrosis factor alpha antagonist drugs]. (17117328)
2006
15
Monoclonal antibodies reactive with the BAF155 (SMARCC1) and BAF170 (SMARCC2) components of human SWI/SNF-related complexes. (15785210)
2005
16
The contribution of cytochrome P450 to the metabolism of tegafur in human liver. (15618749)
2003
17
HIV Tat binds Egr proteins and enhances Egr-dependent transactivation of the Fas ligand promoter. (11909874)
2002
18
The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA anbormalities. (11261513)
2001
19
Double-barreled conduit for right atrioventricular connection in tricuspid atresia: a new technique. (11003773)
2000
20
Micrometastatic tumor cells in the bone marrow of patients with non-small cell lung cancer. (9262576)
1997
21
Gene-specific DNA repair and steady state transcription of the MDR1 gene in human tumor cell lines. (8637722)
1996
22
Distal deletion of chromosome 13 in a child with the &quot;opitz&quot; GBBB syndrome. (8849002)
1995
23
Cervical dumbbell ganglioneuroma in an eighteen month old child. A case report. (8803848)
1995
24
Bruton tyrosine kinase is tyrosine phosphorylated and activated in pre-B lymphocytes and receptor-ligated B cells. (7524098)
1994
25
Peri-operative elastase-alpha-1 proteinase inhibitor in patients with postoperative intervertebral discitis. (8460567)
1993
26
Action of dihydropyridine calcium antagonists on early growth response gene expression and cell growth in vascular smooth muscle cells. (8301097)
1993
27
Intermediate biomarkers in upper aerodigestive tract and lung chemoprevention trials. (1469903)
1992
28
Cytochrome P-450 involvement in the NADPH-dependent lipid peroxidation in human placental mitochondria. (2160283)
1990
29
Rod densitometry in congenital stationary night blindness. (20531518)
1988
30
Unusual echocardiographic pattern in Gaucher's disease. (3995519)
1985
31
Physiological observations in Sydenham's chorea. (7310423)
1981
32
Portal hypertension in a neonate with congenital hepatic fibrosis. (7466448)
1981
33

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