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GENATLAS PHENOTYPE

last update : 23-01-2015

Symbol	D2HA
Location	2p25.3
Name	D-2-@hydroxyglutaric aciduria
Corresponding gene	D2HGDH
Other symbol(s)	D-2-HGA, D2HGA
Main clinical features	developmental delay, epilepsy, hypotonia, and dysmorphic features, early infantile-onset epileptic encephalopathy with hypotonia, delayed cerebral visual development, cardiomyopathy and facial dysmorphic features characterized by early-infantile-onset epileptic encephalopathy and, often, cardiomyopathy, MRI signs of disturbed cerebral maturation and white-matter abnormalities or milder phenotype mild phenotype has a more variable clinical expression with hypotonia and developmental delay
Genetic determination	autosomal recessive
Function/system disorder	neurology
	metabolism/organic acid
Type	disease

Gene product

Name	D-2-hydroxyglutarate dehydrogenase

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function

Remark(s)

inhibiting endogenous IDH1/2 activity could be a novel medication for D2HA patients (PMID: 22683334))