Hypoparathyroidism, deafness, renal disease syndrome: genes and variants
Hypoparathyroidism, deafness, renal disease syndrome is linked to 1 analyzed protein (GATA3). 14 DNA variants are known to cause it; 57 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: hypoparathyroidism-deafness-renal disease syndrome
Genes linked to Hypoparathyroidism, deafness, renal disease syndrome
GATA3: Trans-acting T-cell-specific transcription factor GATA-3
It regulates T-helper-2 differentiation and development of the parathyroids, kidneys, inner ear, and several epithelial tissues. Haploinsufficiency causes HDR syndrome, characterized by hypoparathyroidism, sensorineural deafness, and renal abnormalities.
14 disease-causing and 57 uncertain variants in GATA3 are linked to Hypoparathyroidism, deafness, renal disease syndrome.
Where Hypoparathyroidism, deafness, renal disease syndrome variants cluster
- GATA3 GATA-type 1 (positions 263–287): 7 of 14 disease-causing changes, 8.9× more than its size predicts.
- GATA3 YxKxHxxxRP (positions 344–353): 4 of 14 disease-causing changes, 12.7× more than its size predicts.
Known disease-causing variants in Hypoparathyroidism, deafness, renal disease syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GATA3 R275Q | 275 | GATA-type 1 | Disease-causing (★★) |
| GATA3 R276Q | 276 | GATA-type 1 | Disease-causing (★★) |
| GATA3 R298Q | 298 | Flexible linker | Disease-causing (★★) |
| GATA3 L273P | 273 | GATA-type 1 | Disease-causing (★) |
| GATA3 C287S | 287 | GATA-type 1 | Disease-causing (★) |
| GATA3 Y344C | 344 | YxKxHxxxRP | Disease-causing (★) |
| GATA3 R352T | 352 | YxKxHxxxRP | Disease-causing (★) |
| GATA3 C263S | 263 | GATA-type 1 | Disease-causing (★) |
| GATA3 C320S | 320 | GATA-type 2 | Disease-causing (★) |
| GATA3 Y345C | 345 | YxKxHxxxRP | Disease-causing (★) |
| GATA3 W274R | 274 | GATA-type 1 | Disease-causing |
| GATA3 C287W | 287 | GATA-type 1 | Disease-causing |
| GATA3 R352S | 352 | YxKxHxxxRP | Disease-causing |
| GATA3 C341Y | 341 | GATA-type 2 | Disease-causing |
Frequently asked questions
Which genes are linked to Hypoparathyroidism, deafness, renal disease syndrome?
In CATVariant, Hypoparathyroidism, deafness, renal disease syndrome is linked to 1 analyzed protein: GATA3 (Trans-acting T-cell-specific transcription factor GATA-3).
How many genetic variants are linked to Hypoparathyroidism, deafness, renal disease syndrome?
82 variants: 14 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 57 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hypoparathyroidism, deafness, renal disease 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center