Metaphyseal Chondrodysplasia, Jansen Type (MCDJ)

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Disease Ontology 12 DOID:0080020 OMIM 56 156400 MeSH 43 D010009 MESH via Orphanet 44 C537564 ICD10 via Orphanet 33 Q78.5

UMLS via Orphanet 72 C0265295 Orphanet 58 ORPHA33067 MedGen 41 C0265295 SNOMED-CT via HPO 68 103276001 13649004 15188001 166702002 18265008 194021007 202283002 202289003 204508009 22006008 22450000 22640007 237836003 237837007 249696007 263681008 268029009 271706000 28681006 306963008 30760008 312894000 32958008 343087000 36976004 422065006 48638002 4996001 66931009 71938000 78441005 95828007 more UMLS 71 C0265295

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 33067 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : Metaphyseal Chondrodysplasia, Jansen Type, also known as metaphyseal chondrodysplasia, murk jansen type, is related to hypercalcemia, infantile, 1 and metaphyseal dysplasia, and has symptoms including waddling gait An important gene associated with Metaphyseal Chondrodysplasia, Jansen Type is PTH1R (Parathyroid Hormone 1 Receptor), and among its related pathways/superpathways are Negative regulation of FGFR3 signaling and Presynaptic function of Kainate receptors. Affiliated tissues include bone and eye, and related phenotypes are hearing impairment and hypertelorism

Disease Ontology : ¹² A metaphyseal dysplasia that has material basis in mutation in PTH receptor which results in short-limbed dwarfism.

OMIM : ⁵⁶ The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcemia and hypophosphatemia occur despite the lack of parathyroid abnormalities (summary by Cohen, 2002). (156400)

UniProtKB/Swiss-Prot : ⁷³ Metaphyseal chondrodysplasia, Jansen type: A rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones.

Clinical features from OMIM:

156400

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