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GENATLAS PHENOTYPE

last update : 13-07-2018

Symbol	TNHP1
Location	7q34
Name	transient neonatal hyperparathyroidism 1
Corresponding gene	TRPV6
Main clinical features	neonatal hyperparathyroidism (TNHP) with skeletal abnormalities ribs are thin, deformed, and fractured.; the thorax is narrow;the long bones show metaphyseal constriction (arrowheads) and diaphyseal tunneling (arrows) as a result of subperiosteal resorption secondary hyperparathyroidism due to deficient maternal-fetal transfer of calcium through the placenta
Genetic determination	autosomal recessive
Function/system disorder	endocrinology
	osteo-articular
Type	disease

Remark(s)

. interference with the placental maternal-fetal calcium transport caused by TRPV6 loss-of-function mutations results in fetal calcium deficiency, hyperparathyroidism, and metabolic bone disease (PMID: 29861107))