hypoparathyroidism-deafness-renal disease syndrome
Findings
No curated finding names hypoparathyroidism-deafness-renal disease syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease.
Definition from the Mondo Disease Ontology (MONDO:0007797), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aplasia of the uterusHPOHP:0000151
- 1 of 1 reported patient
- Very rare (1% to 4% of cases)
- Aplasia of the vaginaHPOHP:0003250
- 1 of 1 reported patient
- Basal ganglia calcificationHPOHP:0002135
- 1 of 1 reported patient
- Horizontal nystagmusHPOHP:0000666
- 1 of 1 reported patient
- HypoparathyroidismHPOHP:0000829
- 170 of 182 reported patients
- Obligate (100% of cases)
- Primary amenorrheaHPOHP:0000786
- 1 of 1 reported patient
Show the remaining 26
- Sensorineural hearing impairmentHPOHP:0000407
- 176 of 182 reported patients
- HydronephrosisHPOHP:0000126
- Frequent (30% to 79% of cases)
- HypocalcemiaHPOHP:0002901
- Frequent (30% to 79% of cases)
- Hypocalcemic seizuresHPOHP:0002199
- Frequent (30% to 79% of cases)
- Parathyroid hypoplasiaHPOHP:0000860
- Frequent (30% to 79% of cases)
- Polycystic kidney dysplasiaHPOHP:0000113
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GATA3HGNC:4172
- Definitive · ClinGen · Autosomal dominant · 2019
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: hypoparathyroidism-deafness-renal disease syndrome
- Also called
- Barakat SyndromeHDR syndromehypoparathyroidism, deafness, and renal anomalies syndromehypoparathyroidism, sensorineural deafness, and renal disease