D-2-@HYDROXYGLUTARIC ACIDURIA 1

General Information (adopted from Orphanet):

Synonyms, Signs: D2HGA1
D2HGA
Number of Symptoms 26
OrphanetNr:
OMIM Id: 600721
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0012321) D-2-hydroxyglutaric aciduria 3 / 7739
2
(HPO:0011220) Prominent forehead 137 / 7739
3
(HPO:0000347) Micrognathia 426 / 7739
4
(HPO:0000256) Macrocephaly 298 / 7739
5
(HPO:0001249) Intellectual disability 1089 / 7739
6
(HPO:0001250) Seizures 1245 / 7739
7
(HPO:0002572) Episodic vomiting 12 / 7739
8
(HPO:0001638) Cardiomyopathy 192 / 7739
9
(HPO:0001637) Abnormality of the myocardium 76 / 7739
10
(HPO:0001659) Aortic regurgitation 36 / 7739
11
(HPO:0005348) Inspiratory stridor 8 / 7739
12
(HPO:0002104) Apnea 106 / 7739
13
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
14
(HPO:0001252) Muscular hypotonia 990 / 7739
15
(HPO:0010547) Muscle flaccidity 466 / 7739
16
(HPO:0001324) Muscle weakness 859 / 7739
17
(OMIM) Elevated L-2-hydroxyglutaric acid (urine) 1 / 7739
18
(HPO:0002416) Subependymal cysts 6 / 7739
19
(OMIM) Elevated D-2-hydroxyglutaric acid (urine, plasma, CSF) 1 / 7739
20
(OMIM) Elevated 2-ketoglutarate (urine) 1 / 7739
21
(HPO:0006956) Dilation of lateral ventricles 13 / 7739
22
(OMIM) Delayed gyration 2 / 7739
23
(HPO:0012448) Delayed myelination 51 / 7739
24
(OMIM) Developmental delay, severe 13 / 7739
25
(OMIM) Neonatal/early-infantile onset encephalopathy 1 / 7739
26
(HPO:0007052) Multifocal cerebral white matter abnormalities 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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). ...
Clinical Description OMIM Both the D and the L stereoisomers of hydroxyglutaric acid (EC 1.1.99.2) are found in body fluids. Accumulation of L-2-hydroxyglutaric acid has been reported in multiple patients who have a clinical phenotype of progressive neurodegeneration with extrapyramidal and ...
Molecular genetics OMIM In the gene encoding D-2-hydroxyglutarate dehydrogenase (D2HGDH; 609186), Struys et al. (2005) found disease-causing mutations in 2 unrelated patients with D-2-hydroxyglutaric aciduria. One patient was homozygous for a missense mutation (609186.0001); the other patient, originally described by Gibson ...