MCID: D2H003
MIFTS: 15

D-2-Hydroxyglutaric Aciduria 2

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

Aliases & Classifications for D-2-Hydroxyglutaric Aciduria 2

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

Name: D-2-Hydroxyglutaric Aciduria 2 57 75 29 6 40 73
D2hga2 57 75

Characteristics:

HPO:

32
d-2-hydroxyglutaric aciduria 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for D-2-Hydroxyglutaric Aciduria 2

UniProtKB/Swiss-Prot : 75 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, is also known as d2hga2. An important gene associated with D-2-Hydroxyglutaric Aciduria 2 is IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2, Mitochondrial). 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

Symptoms & Phenotypes for D-2-Hydroxyglutaric Aciduria 2

Clinical features from OMIM:

613657

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

32
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 muscular hypotonia 32 HP:0001252
3 global developmental delay 32 HP:0001263
4 cardiomyopathy 32 HP:0001638
5 d-2-hydroxyglutaric aciduria 32 HP:0012321

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 29 IDH2

Anatomical Context for D-2-Hydroxyglutaric Aciduria 2

Publications for D-2-Hydroxyglutaric Aciduria 2

Variations for D-2-Hydroxyglutaric Aciduria 2

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

75
# 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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....