| Symbol
| HYPOCA
|
| Location
| 3q21.1
|
| Name
|
hypocalcemia with hyperphosphatemia and low PTH levels |
| Other name(s)
|
hypoparathyroidism, familial, isolated
autosomal dominant hypocalcaemia with hypercalciuria
autosomal-dominant hypocalcemia type 1 |
| Corresponding gene
|
CASR
|
| Other symbol(s)
| PCAR1, FIH, ADHH, ADH1
|
| Main clinical features
|
. hypocalcemia with neuromuscular irritability, including perioral paresthesias, tingling of the fingers and toes, and spontaneous or latent tetany with grand mal seizures and laryngeal spasm
additional complications include nephrocalcinosisand basal ganglia calcification |
| Genetic determination
| autosomal dominant |
|
| autosomal recessive |
| Related entries
| isolated hypocalcemia autosomal dominant with activating mutation (Cole 2009)
|
| Function/system disorder
| endocrinology |
| Type
| disease
|