Cytoscape Web
Click node...

Primary hyperoxaluria type 2
1 OMIM reference -
1 associated gene
9 connected diseases
No signs/symptoms info
Disease Type of connection
Berardinelli-Seip congenital lipodystrophy
LIG4 syndrome
Omenn syndrome
Bifunctional enzyme deficiency
Glycogen storage disease due to phosphoglucomutase deficiency
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
PGM-CDG
Peroxisomal acyl-CoA oxidase deficiency
Perrault syndrome
Synonym(s):
- D-glycerate dehydrogenase deficiency
- L-glyceric aciduria
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GRHPR Q9UBQ7604296
No signs/symptoms info available.