Primary failure of tooth eruption: genes and variants
Primary failure of tooth eruption is linked to 1 analyzed protein (PTH1R). 1 DNA variants are known to cause it; 51 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 Primary failure of tooth eruption
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.
1 disease-causing and 51 uncertain variants in PTH1R are linked to Primary failure of tooth eruption.
Known disease-causing variants in Primary failure of tooth eruption
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PTH1R H223R | 223 | Transmembrane | Disease-causing (★★) |
Same protein, different disease
- Metaphyseal chondrodysplasia, Jansen type is also caused by PTH1R variants; they fall mostly in different places as the Primary failure of tooth eruption variants (5 disease-causing).
Diseases related to Primary failure of tooth eruption
- Connective tissue disorder, also linked to PTH1R
- Pseudohypoparathyroidism, also linked to PTH1R
- Osteoporosis, also linked to PTH1R
- Metaphyseal chondrodysplasia, Jansen type, also linked to PTH1R
- Postmenopausal osteoporosis, also linked to PTH1R
- Chondrodysplasia Blomstrand type, also linked to PTH1R
- Eiken syndrome, also linked to PTH1R
Frequently asked questions
Which genes are linked to Primary failure of tooth eruption?
In CATVariant, Primary failure of tooth eruption is linked to 1 analyzed protein: PTH1R (Parathyroid hormone/parathyroid hormone-related peptide receptor).
How many genetic variants are linked to Primary failure of tooth eruption?
60 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 51 are of uncertain significance or have conflicting reports.
Which uncertain variants in Primary failure of tooth eruption 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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