Eiken syndrome: genes and variants
Eiken syndrome is linked to 1 analyzed protein (PTH1R). 1 DNA variants are known to cause it; 31 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 Eiken syndrome
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 31 uncertain variants in PTH1R are linked to Eiken syndrome.
Known disease-causing variants in Eiken syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PTH1R P132L | 132 | Extracellular | Disease-causing (★) |
Same protein, different disease
- Metaphyseal chondrodysplasia, Jansen type is also caused by PTH1R variants; they fall mostly in different places as the Eiken syndrome variants (5 disease-causing).
Diseases related to Eiken syndrome
- 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
- Primary failure of tooth eruption, also linked to PTH1R
Frequently asked questions
Which genes are linked to Eiken syndrome?
In CATVariant, Eiken syndrome is linked to 1 analyzed protein: PTH1R (Parathyroid hormone/parathyroid hormone-related peptide receptor).
How many genetic variants are linked to Eiken syndrome?
43 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 31 are of uncertain significance or have conflicting reports.
Which uncertain variants in Eiken syndrome 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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