Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Metaphyseal chondrodysplasia of Murk Jansen type

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.

Systematic

Pseudohyperparathyreoidism
Metaphyseal chondrodysplasia of Murk Jansen type
PTH1R

References:

1.

Schipani E et al. (1995) A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia.

[^]
2.

Karaplis AC et al. (1994) Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene.

[^]
3.

Gordon SL et al. (1976) Jansen's metaphyseal dysostosis.

[^]
4.

Holthusen W et al. (1975) The skull in metaphyseal chondrodysplasia type Jansen.

[^]
5.

None (1969) Metaphyseal dysostosis of Jansen.

[^]
6.

de Haas WH et al. (1969) Metaphysial dysostosis. A late follow-up of the first reported case.

[^]
7.

Charrow J et al. (1984) The Jansen type of metaphyseal chondrodysplasia: confirmation of dominant inheritance and review of radiographic manifestations in the newborn and adult.

[^]
8.

Kruse K et al. (1993) Calcium metabolism in the Jansen type of metaphyseal dysplasia.

[^]
9.

Schipani E et al. (1997) Constitutive activation of the cyclic adenosine 3',5'-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia.

[^]
10.

None (2002) Some chondrodysplasias with short limbs: molecular perspectives.

[^]
11.

OMIM.ORG article

Omim 156400 [^]
Update: April 29, 2019