Details of Disease

General Information of Disease (ID: DISUMMRM)

Disease Name Primary hyperoxaluria type 3
Synonyms hyperoxaluria, primary, type III; hyperoxaluria, primary, type 3; HP3; PH III; HOGA1 primary hyperoxaluria; primary hyperoxaluria caused by mutation in HOGA1; primary hyperoxaluria type III
Definition Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.
Disease Hierarchy
DIS0L16N: Primary hyperoxaluria
DISUMMRM: Primary hyperoxaluria type 3
Disease Identifiers
MONDO ID
MONDO_0013327
UMLS CUI
C3150878
OMIM ID
613616
MedGen ID
462228
Orphanet ID
93600
SNOMED CT ID
734990008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HOGA1 OT7XETW4 Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.