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GENATLAS PHENOTYPE

last update : 07-01-2009

Symbol	HPT2
Location	3q21.1
Name	hypoparathyroidism 2
Other name(s)	hypoparathyroidism, familial isolated
Corresponding gene	CASR
Other symbol(s)	PCAR1, FIH
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 also mild neuromuscular irritability, calcification of the basal ganglia, extrapyramidal disorders, cataracts, alopecia, abnormal dentition, coarse brittle hair, mental retardation, or personality disorders
Genetic determination	autosomal recessive
Function/system disorder	endocrinology
Type	disease

Gene product

Name	extracellular calcium sensing receptor (CASR)

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/gain of function	mutation F821L, localized in the sixth transmembrane domain of CASR, severe form

Remark(s)