MCID: D2H003
MIFTS: 20

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 54 24 71 29 69
D2hga2 24 71
D-2-Hydroxyglutaric Aciduria Type Ii 24
D-2-Hydroxyglutaric Aciduria Ii 24

Characteristics:

HPO:

32
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, also known as d2hga2, is related to d-2-hydroxyglutaric aciduria and cardiomyopathy, and has symptoms including seizures, global developmental delay and cardiomyopathy. 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 family:

D-2-Hydroxyglutaric Aciduria 2

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

id Related Disease Score Top Affiliating Genes
1 d-2-hydroxyglutaric aciduria 10.1
2 cardiomyopathy 10.0

Symptoms & Phenotypes for D-2-Hydroxyglutaric Aciduria 2

Clinical features from OMIM:

613657

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

32
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 global developmental delay 32 HP:0001263
3 cardiomyopathy 32 HP:0001638
4 muscular hypotonia 32 HP:0001252
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:

id Genetic test Affiliating Genes
1 D-2-Hydroxyglutaric Aciduria 2 29 24 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
id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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