MCID: D2H003
MIFTS: 15

D-2-Hydroxyglutaric Aciduria 2

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

Aliases & Classifications for D-2-Hydroxyglutaric Aciduria 2

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

Name: D-2-Hydroxyglutaric Aciduria 2 53 71 28 69
D2hga2 53 71

Characteristics:

HPO:

31
d-2-hydroxyglutaric aciduria 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for D-2-Hydroxyglutaric Aciduria 2

UniProtKB/Swiss-Prot : 71 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, and has symptoms including seizures, muscular hypotonia and global developmental delay. An important gene associated with D-2-Hydroxyglutaric Aciduria 2 is IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2, Mitochondrial).

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:

31
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 muscular hypotonia 31 HP:0001252
3 global developmental delay 31 HP:0001263
4 cardiomyopathy 31 HP:0001638
5 d-2-hydroxyglutaric aciduria 31 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 28 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:

71
# 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/Likely pathogenic rs121913502 GRCh37 Chromosome 15, 90631934: 90631934
2 IDH2 NM_001289910.1(IDH2): c.262C> G (p.Arg88Gly) single nucleotide variant Pathogenic rs267606870 GRCh37 Chromosome 15, 90631935: 90631935

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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