Metaphyseal Chondrodysplasia, Jansen Type

External Ids:

OMIM 57 156400 Disease Ontology 12 DOID:0080020 Orphanet 59 ORPHA33067 MESH via Orphanet 45 C537564 UMLS via Orphanet 74 C0265295

ICD10 via Orphanet 34 Q78.5 MedGen 42 C0265295 SNOMED-CT via HPO 69 263681008 48638002 13649004 194021007 22006008 32958008 103276001 15188001 343087000 95828007 306963008 204508009 18265008 249696007 36976004 312894000 78441005 4996001 71938000 271706000 22640007 268029009 166702002 66931009 22450000 202283002 237836003 237837007 422065006 28681006 202289003 30760008 more UMLS 73 C0265295

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 33067Disease definitionJansen'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 clear cell chondrosarcoma and extraskeletal chondroma, 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 Signaling by GPCR and Peptide ligand-binding receptors. Affiliated tissues include bone and eye, and related phenotypes are hypertelorism and osteopenia

OMIM : ⁵⁷ 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 : ⁷⁵ Jansen metaphyseal chondrodysplasia: Rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones.

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

Wikipedia : ⁷⁶ Jansen\'s metaphyseal chondrodysplasia (JMC) is a disease that results from ligand-independent... more...

Clinical features from OMIM:

156400

Search NIH Clinical Center for Metaphyseal Chondrodysplasia, Jansen Type

Search GEO for disease gene expression data for Metaphyseal Chondrodysplasia, Jansen Type.