Details of Disease | DrugMAP

General Information of Disease (ID: DIS5WUHF)

Disease Name	Metaphyseal chondrodysplasia, Jansen type
Synonyms	metaphyseal chondrodysplasia, murk Jansen type; murk Jansen type metaphyseal chondrodysplasia; metaphyseal chondrodysplasia murk Jansen type; Jansen metaphyseal chondrodysplasia; Jansen Type Metaphyseal Chondrodysplasia; metaphyseal chondrodysplasia, Jansen type; Jansen disease; Jansen type metaphyseal chondrodysplasia; Jansen's metaphyseal chondrodysplasia; Jansen metaphyseal dysostosis
Definition	Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS9SPWW: Osteochondrodysplasia DIS5Z8U6: Skeletal dysplasia DIS5WUHF: Metaphyseal chondrodysplasia, Jansen type
Disease Identifiers	MONDO ID MONDO_0007982 MESH ID C537564 UMLS CUI C0265295 OMIM ID 156400 MedGen ID 120529 Orphanet ID 33067 SNOMED CT ID 24629003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PTH1R	TTFPD47	Limited	Genetic Variation	[1]
PTH1R	TTFPD47	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PTH1R	OTQF5ZAK	Definitive	Autosomal dominant	[2]
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References

1	Characterization of a PTH1R missense mutation responsible for Jansen type metaphyseal chondrodysplasia.Odontology. 2017 Apr;105(2):150-154. doi: 10.1007/s10266-016-0247-4. Epub 2016 May 9.
2	Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. N Engl J Med. 1996 Sep 5;335(10):708-14. doi: 10.1056/NEJM199609053351004.