Symbol
| HHC1
|
Location
| 3q21.1
|
Name
|
hypercalcemia hypocalciuric, familial, benign 1 |
Other name(s)
|
familial hypocalciuric hypercalcemia type 1
|
Corresponding gene
|
CASR
|
Other symbol(s)
| FBH1, FHH1, PCAR1, FBHH, FHH
|
Main clinical features
|
neuromuscular symptoms, hyperphosphatemia and inappropriately low levels of parathyroid hormone, usually asymptomatic, mild to moderate, hypercalcemia
elevated plasma calcium levels, relative or absolute hypocalciuria, and normal to moderately elevated plasma PTH |
Genetic determination
| autosomal dominant |
Related entries
| any cases of wild hypocalcemia with hyperphosphatemia and normal PTH
|
Function/system disorder
| endocrinology |
Type
| disease
|