D-2-hydroxyglutaric aciduria 1

Preferred Label : D-2-hydroxyglutaric aciduria 1;

Symbol : D2HGA1;

CISMeF acronym : D2HGA; D2HGA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : D2HGA;

Description : D-2-hydroxyglutaric aciduria is a neurometabolic disorder first described by Chalmers et al. (1980). Clinical symptoms include developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype was characterized (van der Knaap et al., 1999). The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and, often, cardiomyopathy. The mild phenotype has a more variable clinical presentation.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the D-2-hydroxyglutarate dehydrogenase gene (D2HGD, 609186.0001);

Laboratory abnormalities : D-2-hydroxyglutaric aciduria; Elevated D-2-hydroxyglutaric acid (urine, plasma, CSF); Elevated L-2-hydroxyglutaric acid (urine); Elevated 2-ketoglutarate (urine);

Prefixed ID : #600721;

Details

Origin ID

600721;

UMLS CUI

C3152055;

Broader ORDO disease(s)
- 2-hydroxyglutaric aciduria [ORDO Disease]
Currated CISMeF NLP mapping
- D-2-hydroxyglutaric aciduria 1 [DO Concept]
DO Cross reference
- D-2-hydroxyglutaric aciduria 1 [DO Concept]
Genes related to phenotype
- D-2-hydroxyglutarate dehydrogenase [OMIM gene]
HPO term(s)
- Aortic regurgitation [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- D-2-hydroxyglutaric aciduria [HPO term]
- Delayed CNS myelination [HPO term]
- Dilation of lateral ventricles [HPO term]
- Episodic vomiting [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Glutaric aciduria [HPO term]
- Hypotonia [HPO term]
- Infantile encephalopathy [HPO term]
- Inspiratory stridor [HPO term]
- Intellectual disability [HPO term]
- Macrocephaly [HPO term]
- Micrognathia [HPO term]
- Multifocal cerebral white matter abnormalities [HPO term]
- Muscle weakness [HPO term]
- Prominent forehead [HPO term]
- Seizure [HPO term]
- Subependymal cysts [HPO term]
ORDO concept(s)
- D-2-hydroxyglutaric aciduria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- D-2-hydroxyglutaric aciduria [ICD-11 More detail]
- D-2-hydroxyglutaric aciduria [ORDO Disease]

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