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Table 2 Main differential diagnoses of calcium disorders related to CASR gene mutations

From: Diseases associated with calcium-sensing receptor

Hypercalcaemia
Familial hypocalciuric hypercalcaemia (FHH) syndromes
- type 2 via mutations of the GNA11 gene (10%)
- type 3 via mutations of the AP2S1 gene (15%)
- via mutations of other as of yet unknown genes (20%)
Familial hyperparathyroidism
- via mutations of tumour suppressor genes:
o MEN1 (Multiple endocrine neoplasia type 1)
o HRPT2 (/CDC73)
o CDKN1B (MEN4)
o but also the APC, SFRPs, GSK3β, RASSF1A, HIC1, RIZ1, and WT1 genes, and possibly CASR, GNA11, AP2S1, and GCM2
- via mutations of proto-oncogenes (CCND1/PRAD1, RET [MEN2], ZFX, CTNNB1, EZH2)cpe
Hyperparathyroidism with normal or low PTH with hypercalciuria via mutation of the genes
- CYP24A1
- SLC34A1
Hypercalcemia associated with reduced glomerular filtration rate, making the low urine calcium difficult to interpret
Hypocalcaemia
Hypercalciuric hypocalcaemia syndrome type 2 via activating mutation of the GNA11 gene.
No gain-of-function mutation described for the AP2S1 gene
Other types of hypoparathyroidism