Metaphyseal chondrodysplasia of Murk Jansen type is an autosomal dominant disorder caused by activating mutations of the PTH1R gene. The disorder is characterized by pseudohyperparathyroidism hypercalcemia, hypophosphatemia with suppressed PTH and PTH-related protein. By contrast calcitriol and alkaline phospahtase are elevated. Various skeletal abnormalities result from general osteopenia.
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OMIM.ORG article Omim 156400 |