Metaphyseal chondrodysplasia, Jansen type: genes and variants
Metaphyseal chondrodysplasia, Jansen type is linked to 1 analyzed protein (PTH1R). 5 DNA variants are known to cause it; 45 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Metaphyseal chondrodysplasia, Jansen type
PTH1R: Parathyroid hormone/parathyroid hormone-related peptide receptor
It responds to parathyroid hormone and PTH-related peptide to coordinate calcium homeostasis and growth-plate development through cyclic-AMP and other pathways. Gain- and loss-of-function variants cause distinct skeletal disorders including Jansen metaphyseal chondrodysplasia and Blomstrand chondrodysplasia.
5 disease-causing and 45 uncertain variants in PTH1R are linked to Metaphyseal chondrodysplasia, Jansen type.
Known disease-causing variants in Metaphyseal chondrodysplasia, Jansen type
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PTH1R P132L | 132 | Extracellular | Disease-causing (★) |
| PTH1R I458K | 458 | Transmembrane | Disease-causing (★) |
| PTH1R V204E | 204 | Transmembrane | Disease-causing (★) |
| PTH1R T410P | 410 | Transmembrane | Disease-causing |
| PTH1R T410R | 410 | Transmembrane | Disease-causing |
Diseases related to Metaphyseal chondrodysplasia, Jansen type
- Connective tissue disorder, also linked to PTH1R
- Pseudohypoparathyroidism, also linked to PTH1R
- Osteoporosis, also linked to PTH1R
- Postmenopausal osteoporosis, also linked to PTH1R
- Chondrodysplasia Blomstrand type, also linked to PTH1R
- Primary failure of tooth eruption, also linked to PTH1R
- Eiken syndrome, also linked to PTH1R
Frequently asked questions
Which genes are linked to Metaphyseal chondrodysplasia, Jansen type?
In CATVariant, Metaphyseal chondrodysplasia, Jansen type is linked to 1 analyzed protein: PTH1R (Parathyroid hormone/parathyroid hormone-related peptide receptor).
How many genetic variants are linked to Metaphyseal chondrodysplasia, Jansen type?
67 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 45 are of uncertain significance or have conflicting reports.
Which uncertain variants in Metaphyseal chondrodysplasia, Jansen type look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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