NEPHROLITHIASIS, CALCIUM OXALATE

General Information (adopted from Orphanet):

Synonyms, Signs: KIDNEY STONES
UROLITHIASIS, CALCIUM OXALATE
Number of Symptoms 2
OrphanetNr:
OMIM Id: 167030
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003159) Hyperoxaluria 6 / 7739
2
(HPO:0008672) Calcium oxalate nephrolithiasis 10 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Kleta (2006) reviewed aspects of renal stone disease. Nephrolithiasis and urolithiasis remain major public health problems of largely unknown cause. While disorders such as cystinuria (220100) and primary hyperoxaluria (see 259900) that have nephrolithiasis as a major feature ...
Clinical Description OMIM Oxalate is a major component of two-thirds of all kidney stones. Small changes in the urinary concentration of oxalate have a critical influence on calcium oxalate stone formation. Abnormally high urinary excretion and intestinal absorption of oxalate has ...