hypoparathyroidism-deafness-renal disease syndrome
MeSH: C537907ORPHA: 2237
Overview
characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure that has material basis in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with hypoparathyroidism-deafness-renal disease syndrome, sourced from HPO and Orphanet clinical annotations.
Renal dysplasiaProgressive sensorineural hearing impairmentHypoparathyroidismVesicoureteral refluxRenal insufficiencyPolycystic kidney dysplasiaUnilateral renal agenesisHydronephrosisParathyroid hypoplasiaHypocalcemic seizuresHypocalcemiaDiabetes mellitusSeptate vaginaUterus didelphysVaginal atresiaAplasia of the uterusCleft palateRod-cone dystrophyAbnormal heart morphologyPsoriasiform dermatitisSevere postnatal growth retardationAbnormal T cell physiology
Classification & Codes
MeSH Code
C537907Orphanet Code
ORPHA:2237hypoparathyroidism-deafness-renal disease syndrome
| MeSH | C537907 |
| Orphanet | ORPHA:2237 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO