D-2-hydroxyglutaric aciduria

General Information (adopted from Orphanet):

Synonyms, Signs: D-2-HGA
D-2-hydroxyglutaric acidemia
Number of Symptoms 22
OrphanetNr: 79315
OMIM Id: 600721
613657
ICD-10: E72.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: 2-hydroxyglutaric aciduria
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003150) Glutaric aciduria 7 / 7739
2
 (HPO:0012321) D-2-hydroxyglutaric aciduria 3 / 7739
3
 (HPO:0000347) Micrognathia 426 / 7739
4
 (HPO:0011220) Prominent forehead 137 / 7739
5
 (HPO:0002007) Frontal bossing 366 / 7739
6
 (HPO:0000256) Macrocephaly 298 / 7739
7
 (HPO:0007105) Infantile encephalopathy 5 / 7739
8
 (HPO:0001250) Seizures 1245 / 7739
9
 (HPO:0001249) Intellectual disability 1089 / 7739
10
 (HPO:0001263) Global developmental delay 853 / 7739
11
 (HPO:0002572) Episodic vomiting 12 / 7739
12
 (HPO:0001638) Cardiomyopathy 192 / 7739
13
 (HPO:0001659) Aortic regurgitation 36 / 7739
14
 (HPO:0005348) Inspiratory stridor 8 / 7739
15
 (HPO:0002104) Apnea 106 / 7739
16
 (HPO:0001324) Muscle weakness 859 / 7739
17
 (HPO:0001252) Muscular hypotonia 990 / 7739
18
 (HPO:0002188) Delayed CNS myelination 16 / 7739
19
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
 (HPO:0007052) Multifocal cerebral white matter abnormalities 2 / 7739
21
 (HPO:0006956) Dilation of lateral ventricles 13 / 7739
22
 (HPO:0002416) Subependymal cysts 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: