| Symbol
| CDMJ
|
| Location
| 3p21.3
|
| Name
|
chondrodysplasia, metaphyseal, Jansen type |
| Corresponding gene
|
PTH1R
|
| Main clinical features
|
cranial densification, short-limbed dwarfism, with constitutive activity of PTHR1 in Jansen's form with hypercalcemia |
| Genetic determination
| autosomal dominant |
| Function/system disorder
| osteo-articular |
| Type
| disease
|
| Name
| parathyroid hormone related peptide receptor 1 (PTHR1)
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| unknown
|
| abnormal protein/gain of function
|
| |
| Remark(s)
|
missense T410R mutation led to agonist-independent cAMP formation, and causes a mild form characterized by less pronounced skeletal and laboratory abnormalities |