Familial hypoparathyroidism: genes and variants
Familial hypoparathyroidism is linked to 2 analyzed proteins (CASR and GNA11). 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 Familial hypoparathyroidism
CASR: Extracellular calcium-sensing receptor
It senses extracellular calcium in the parathyroid gland and kidney and adjusts parathyroid-hormone secretion and renal calcium handling accordingly. Loss-of-function variants cause familial hypocalciuric hypercalcemia or neonatal severe hyperparathyroidism, whereas activating variants cause autosomal dominant hypocalcemia.
1 disease-causing and 1 uncertain variants in CASR are linked to Familial hypoparathyroidism.
GNA11: Guanine nucleotide-binding protein subunit alpha-11
It transmits signals from Gq-coupled receptors to phospholipase C and downstream calcium and protein-kinase-C pathways. Germline activating variants can cause autosomal dominant hypocalcemia, while somatic activating variants drive uveal melanoma and some vascular lesions.
1 disease-causing and 0 uncertain variants in GNA11 are linked to Familial hypoparathyroidism.
Weakly linked (only a few uncertain records): PTH.
Known disease-causing variants in Familial hypoparathyroidism
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CASR A645D | 645 | Intracellular loop 1 (ICL1) | Disease-causing (★) |
| GNA11 V179M | 179 | G-alpha | Disease-causing (★) |
Same protein, different disease
- Familial hypocalciuric hypercalcemia is also caused by CASR variants; they fall mostly in different places as the Familial hypoparathyroidism variants (81 disease-causing).
- Autosomal dominant hypocalcemia is also caused by CASR variants; they fall mostly in different places as the Familial hypoparathyroidism variants (69 disease-causing).
- Nephrolithiasis/nephrocalcinosis is also caused by CASR variants; they fall mostly in different places as the Familial hypoparathyroidism variants (14 disease-causing).
- Neonatal severe primary hyperparathyroidism is also caused by CASR variants; they fall mostly in different places as the Familial hypoparathyroidism variants (11 disease-causing).
- Epilepsy, idiopathic generalized, susceptibility to, 13 is also caused by CASR variants; they fall mostly in different places as the Familial hypoparathyroidism variants (8 disease-causing).
- Autosomal dominant hypocalcemia is also caused by GNA11 variants; they fall mostly in different places as the Familial hypoparathyroidism variants (6 disease-causing).
- Familial hypocalciuric hypercalcemia is also caused by GNA11 variants; they fall mostly in different places as the Familial hypoparathyroidism variants (4 disease-causing).
Diseases related to Familial hypoparathyroidism
- Familial hypocalciuric hypercalcemia, also linked to CASR and GNA11
- Autosomal dominant hypocalcemia, also linked to CASR and GNA11
- Hypertrophic cardiomyopathy, also linked to CASR
- Epilepsy, idiopathic generalized, susceptibility to, 13, also linked to CASR
- Idiopathic generalized epilepsy, also linked to CASR
- Nephrolithiasis/nephrocalcinosis, also linked to CASR
- Vascular malformation, also linked to GNA11
- Neonatal severe primary hyperparathyroidism, also linked to CASR
- Familial hyperparathyroidism or Hypocalciuric hypercalcaemia, also linked to CASR
- Familial multiple nevi flammei, also linked to GNA11
- Chronic kidney disease, also linked to CASR
Frequently asked questions
Which genes are linked to Familial hypoparathyroidism?
In CATVariant, Familial hypoparathyroidism is linked to 2 analyzed proteins: CASR (Extracellular calcium-sensing receptor) and GNA11 (Guanine nucleotide-binding protein subunit alpha-11).
How many genetic variants are linked to Familial hypoparathyroidism?
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 Familial hypoparathyroidism 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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