Renal Tubulopathies and related disorders
Gene: PTH1R
The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcaemia and hypophosphataemia occur despite the lack of parathyroid abnormalities.
5 activating mutations reported as causative of this phenotype. Note bi-allelic variants in this gene cause more severe skeletal phenotypes.Created: 6 Apr 2021, 2:21 a.m. | Last Modified: 6 Apr 2021, 2:21 a.m.
Panel Version: 0.32
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Metaphyseal chondrodysplasia, Murk Jansen type, MIM# 156400; MONDO:0007982
Publications
gene: PTH1R was added gene: PTH1R was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PTH1R were set to 7701349; 17164305; 8855805; 15525660; 19061984 Phenotypes for gene: PTH1R were set to Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400; Failure of tooth eruption, primary MIM#125350; Eiken syndrome MIM#600002; Chondrodysplasia, Blomstrand type MIM#215045