MCDJ
MCID: MTP034
MIFTS: 51
|
Metaphyseal Chondrodysplasia, Jansen Type (MCDJ)
Categories:
Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases
|
|
MalaCards integrated aliases for Metaphyseal Chondrodysplasia, Jansen Type:
Characteristics:Orphanet epidemiological data:58
metaphyseal chondrodysplasia, jansen type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:56
Miscellaneous:
waddling gait majority of cases are sporadic
Inheritance:
autosomal dominant HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Endocrine diseases
ICD10:
33
Orphanet: 58
![]() ![]() |
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. |
Human phenotypes related to Metaphyseal Chondrodysplasia, Jansen Type:31 (show all 30)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:156400UMLS symptoms related to Metaphyseal Chondrodysplasia, Jansen Type:waddling gait MGI Mouse Phenotypes related to Metaphyseal Chondrodysplasia, Jansen Type:45 (show all 18)
|
Interventional clinical trials:
|
MalaCards organs/tissues related to Metaphyseal Chondrodysplasia, Jansen Type:40
Bone,
Eye
|
Articles related to Metaphyseal Chondrodysplasia, Jansen Type:(show all 19)
|
ClinVar genetic disease variations for Metaphyseal Chondrodysplasia, Jansen Type:6 (show all 50)
UniProtKB/Swiss-Prot genetic disease variations for Metaphyseal Chondrodysplasia, Jansen Type:73
|
Search
GEO
for disease gene expression data for Metaphyseal Chondrodysplasia, Jansen Type.
|
Pathways related to Metaphyseal Chondrodysplasia, Jansen Type according to GeneCards Suite gene sharing:(show all 11)
|
Cellular components related to Metaphyseal Chondrodysplasia, Jansen Type according to GeneCards Suite gene sharing:
Biological processes related to Metaphyseal Chondrodysplasia, Jansen Type according to GeneCards Suite gene sharing:(show all 26)
Molecular functions related to Metaphyseal Chondrodysplasia, Jansen Type according to GeneCards Suite gene sharing:
|
|