Hypoparathyroidism, familial isolated 1: genes and variants
Hypoparathyroidism, familial isolated 1 is linked to 1 analyzed protein (PTH). 2 DNA variants are known to cause it; 3 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 Hypoparathyroidism, familial isolated 1
PTH: Parathyroid hormone
After secretion from the parathyroid glands, it raises extracellular calcium by acting on bone and kidney and indirectly increasing intestinal calcium absorption. Deficiency causes hypoparathyroidism, whereas excessive secretion produces hyperparathyroidism and characteristic skeletal and renal complications.
2 disease-causing and 3 uncertain variants in PTH are linked to Hypoparathyroidism, familial isolated 1.
Known disease-causing variants in Hypoparathyroidism, familial isolated 1
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PTH C18R | 18 | Disease-causing | |
| PTH S23P | 23 | Disease-causing |
Frequently asked questions
Which genes are linked to Hypoparathyroidism, familial isolated 1?
In CATVariant, Hypoparathyroidism, familial isolated 1 is linked to 1 analyzed protein: PTH (Parathyroid hormone).
How many genetic variants are linked to Hypoparathyroidism, familial isolated 1?
6 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 3 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hypoparathyroidism, familial isolated 1 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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