Please wait while page loads....
Details of D2HGDH gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| D2HGDH | D2HGD | Q8N465 | D2HDH_HUMAN | 728294
| ENSG00000180902
| D-2-hydroxyglutarate dehydrogenase, mitochondrial | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. |
600721 |
