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D-2-hydroxyglutaric aciduria
2 OMIM references -
2 associated genes
6 connected diseases
No signs/symptoms info
Disease Type of connection
Enchondromatosis
Maffucci syndrome
Dedifferentiated liposarcoma
Estrogen resistance syndrome
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Well-differentiated liposarcoma
Synonym(s):
- D-2-HGA
- D-2-hydroxyglutaric acidemia
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
D2HGDH Q8N465609186
IDH2 P48735147650
No signs/symptoms info available.