Familial hypocalciuric hypercalcaemia (Q39839)
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Familial Hypocalciuric Hypercalcaemia (FHH) or benign familial hypercalcaemia is an autosomal dominant disorder of calcium metabolism that is often asymptomatic and that is biologically characterised by a significant but moderate hypercalcaemia. Serum levels of parathyroid hormone are normal or slightly increased, and urinary calcium excretion is relatively low for hypercalcaemia. CASR, GNA11 and AP2S1 have been identified as causative genes.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5A51.2 |
||
| English | Familial hypocalciuric hypercalcaemia |
Familial Hypocalciuric Hypercalcaemia (FHH) or benign familial hypercalcaemia is an autosomal dominant disorder of calcium metabolism that is often asymptomatic and that is biologically characterised by a significant but moderate hypercalcaemia. Serum levels of parathyroid hormone are normal or slightly increased, and urinary calcium excretion is relatively low for hypercalcaemia. CASR, GNA11 and AP2S1 have been identified as causative genes. |
