Table 1 Main diseases related to CaSR anomalies

Hypocalciuric hypercalcaemia syndromes:

- Genetic via inactivating mutations of the CASR gene

o heterozygous (familial benign hypercalcaemia),

NB: Serum calcium levels of the variants A986S, R990G and Q1011E slightly higher than in the general population

o homozygous, compound heterozygous (severe neonatal hyperparathyroidism)

- Acquired via anti-CaSR blocking antibodies (rare)

Hypercalciuric hypocalcaemia syndrome, more rare,

- Genetic via heterozygous activating mutations of the CASR gene

o autosomal dominant

o sometimes with presentation of pseudo-Bartter’s syndrome

- Acquired via anti-CaSR stimulating antibodies

Other disorders

- Hypercalciuria - lithiases R990G variant of CaSR

- Cancers: tumor suppressor or oncogenic (colon, breast, prostate, neuroblastoma, etc.)

- Metabolic syndrome

- Hypergastrinaemia

- Inflammatory digestive and respiratory diseases

- Taste (kokumi)