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References OMIM Gene GeneReviews HGMD HGNC
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
    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))