Preferred Label : Nephrolithiasis, calcium oxalate, 1;
Symbol : CAON1;
CISMeF acronym : CAON;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Kidney stones; Urolithiasis, calcium oxalate;
Description : 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 have advanced understanding of the metabolic and physiologic processes
of stone formation in general, they have not addressed the etiology of calcium oxalate
stone formation, responsible for approximately 75% of urolithiasis cases in humans.
Men are affected twice as often as women, but children show no such gender bias. The
recurrence rate is also high. In populations of European ancestry, 5 to 10% of adults
experience the painful precipitation of calcium oxalate in their urinary tracts. Thorleifsson
et al. (2009) noted that between 35 and 65% of hypercalciuric stone formers and up
to 70% of subjects with hypercalciuria have relatives with nephrolithiasis, and twin
studies have estimated the heritability of kidney stones to be 56%.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the solute carrier family 26 (sulfate transporter), member 1
gene (SLC26A1, 610130.0001);
Laboratory abnormalities : Increased urinary oxalate;
Prefixed ID : #167030;
Origin ID : 167030;
UMLS CUI : C5779632;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
