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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 mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s)
  • inhibiting endogenous IDH1/2 activity could be a novel medication for D2HA patients (PMID: 22683334))