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Primary hyperoxaluria type 1
1 OMIM reference -
1 associated gene
7 connected diseases
No signs/symptoms info
Disease Type of connection
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Ketoacidosis due to beta-ketothiolase deficiency
Miller-Dieker syndrome
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Synonym(s):
- Glycolic aciduria
- Peroxisomal alanine-glyoxylate aminotransferase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
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
AGXT P21549604285
No signs/symptoms info available.