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Metaphyseal chondrodysplasia, Jansen type

Disease ID:522
Name:Metaphyseal chondrodysplasia, Jansen type
Associated with:1 target
Jansen's metaphyseal chondrodysplasia
Database Links
Disease Ontology: DOID:0080020
OMIM: 156400
Orphanet: ORPHA33067


PTH1 receptor
Comments:  Several single nucleotide polymorphisms (listed below) have been identified in humans and may be linked to Jansen's metaphyseal chondrodysplasia
References:  1-5
Mutations:  PTH1 receptor is associated with 4 mutation. Click here for details


No ligand related data available for Metaphyseal chondrodysplasia, Jansen type


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1. Bastepe M, Raas-Rothschild A, Silver J, Weissman I, Wientroub S, Jüppner H, Gillis D. (2004) A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation. J. Clin. Endocrinol. Metab., 89 (7): 3595-600. [PMID:15240651]

2. Schipani E, Jensen GS, Pincus J, Nissenson RA, Gardella TJ, Jüppner H. (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. Mol. Endocrinol., 11 (7): 851-8. [PMID:9178745]

3. Schipani E, Kruse K, Jüppner H. (1995) A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science, 268 (5207): 98-100. [PMID:7701349]

4. Schipani E, Langman C, Hunzelman J, Le Merrer M, Loke KY, Dillon MJ, Silve C, Jüppner H. (1999) A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia. J. Clin. Endocrinol. Metab., 84 (9): 3052-7. [PMID:10487664]

5. Schipani E, Langman CB, Parfitt AM, Jensen GS, Kikuchi S, Kooh SW, Cole WG, Jüppner H. (1996) Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. N. Engl. J. Med., 335 (10): 708-14. [PMID:8703170]