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d-2-hydroxyglutaric aciduria 2

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0013345:  d-2-hydroxyglutaric aciduria 2
DOID:0111352: 
UMLS:C3150909: