D2HGA2
MCID: D2H003
MIFTS: 19

D-2-Hydroxyglutaric Aciduria 2 (D2HGA2)

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

Aliases & Classifications for D-2-Hydroxyglutaric Aciduria 2

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

Name: D-2-Hydroxyglutaric Aciduria 2 58 76 30 6 74
D2hga2 58 76
D-2-Hydroxyglutaric Aciduria, Type 2 41

Characteristics:

HPO:

33
d-2-hydroxyglutaric aciduria 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for D-2-Hydroxyglutaric Aciduria 2

UniProtKB/Swiss-Prot : 76 D-2-hydroxyglutaric aciduria 2: A 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.

MalaCards based summary : D-2-Hydroxyglutaric Aciduria 2, also known as d2hga2, is related to d-2-hydroxyglutaric aciduria 1 and 2-hydroxyglutaric aciduria. An important gene associated with D-2-Hydroxyglutaric Aciduria 2 is IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2, Mitochondrial). Affiliated tissues include eye, and related phenotypes are seizures and muscular hypotonia

Description from OMIM: 613657

Related Diseases for D-2-Hydroxyglutaric Aciduria 2

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

D-2-Hydroxyglutaric Aciduria 2

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

# Related Disease Score Top Affiliating Genes
1 d-2-hydroxyglutaric aciduria 1 10.2
2 2-hydroxyglutaric aciduria 10.2

Symptoms & Phenotypes for D-2-Hydroxyglutaric Aciduria 2

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

33
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 muscular hypotonia 33 HP:0001252
3 global developmental delay 33 HP:0001263
4 cardiomyopathy 33 HP:0001638
5 d-2-hydroxyglutaric aciduria 33 HP:0012321

Clinical features from OMIM:

613657

Drugs & Therapeutics for D-2-Hydroxyglutaric Aciduria 2

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

Genetic Tests for D-2-Hydroxyglutaric Aciduria 2

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

# Genetic test Affiliating Genes
1 D-2-Hydroxyglutaric Aciduria 2 30 IDH2

Anatomical Context for D-2-Hydroxyglutaric Aciduria 2

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

42
Eye

Publications for D-2-Hydroxyglutaric Aciduria 2

Articles related to D-2-Hydroxyglutaric Aciduria 2:

# Title Authors Year
1
Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2. ( 29987523 )
2018
2
Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing. ( 24049096 )
2013
3
Targeted inhibition of mutant IDH2 in leukemia cells induces cellular differentiation. ( 23558173 )
2013
4
The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate. ( 20171147 )
2010

Variations for D-2-Hydroxyglutaric Aciduria 2

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

76
# Symbol AA change Variation ID SNP ID
1 IDH2 p.Arg140Gly VAR_065174 rs267606870
2 IDH2 p.Arg140Gln VAR_065175 rs121913502

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IDH2 NM_002168.3(IDH2): c.419G> A (p.Arg140Gln) single nucleotide variant Pathogenic rs121913502 GRCh37 Chromosome 15, 90631934: 90631934
2 IDH2 NM_002168.3(IDH2): c.419G> A (p.Arg140Gln) single nucleotide variant Pathogenic rs121913502 GRCh38 Chromosome 15, 90088702: 90088702
3 IDH2 NM_001289910.1(IDH2): c.262C> G (p.Arg88Gly) single nucleotide variant Pathogenic rs267606870 GRCh37 Chromosome 15, 90631935: 90631935
4 IDH2 NM_001289910.1(IDH2): c.262C> G (p.Arg88Gly) single nucleotide variant Pathogenic rs267606870 GRCh38 Chromosome 15, 90088703: 90088703
5 IDH2 NM_002168.3(IDH2): c.1050C> T (p.Thr350=) single nucleotide variant Benign/Likely benign rs11540478 GRCh37 Chromosome 15, 90628537: 90628537
6 IDH2 NM_002168.3(IDH2): c.1050C> T (p.Thr350=) single nucleotide variant Benign/Likely benign rs11540478 GRCh38 Chromosome 15, 90085305: 90085305
7 IDH2 NM_002168.3(IDH2): c.373+9G> T single nucleotide variant Likely benign rs755607312 GRCh37 Chromosome 15, 90633702: 90633702
8 IDH2 NM_002168.3(IDH2): c.373+9G> T single nucleotide variant Likely benign rs755607312 GRCh38 Chromosome 15, 90090470: 90090470
9 IDH2 NM_002168.3(IDH2): c.23T> C (p.Val8Ala) single nucleotide variant Uncertain significance rs369445642 GRCh37 Chromosome 15, 90645600: 90645600
10 IDH2 NM_002168.3(IDH2): c.23T> C (p.Val8Ala) single nucleotide variant Uncertain significance rs369445642 GRCh38 Chromosome 15, 90102368: 90102368

Expression for D-2-Hydroxyglutaric Aciduria 2

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

Pathways for D-2-Hydroxyglutaric Aciduria 2

GO Terms for D-2-Hydroxyglutaric Aciduria 2

Sources for D-2-Hydroxyglutaric Aciduria 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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