ORPHA:2237
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Also known as: Barakat syndrome · HDR syndrome · Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome
Publications
370
80.3th percentile
Trials
1
Interventional, condition-specific
Researchers
1,210
Distinct authors in sample
Gene link
GATA3
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007797
- MeSH:C537907
- OMIM:146255
- UMLS:C1840333
- NCIT:C130983
Additional Mondo synonyms (4)
Barakat Syndrome · hypoparathyroidism, deafness, and renal anomalies syndrome · hypoparathyroidism, sensorineural deafness, and renal disease · hypoparathyroidism-deafness-renal disease syndrome
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — GATA3
- LiteraturePresent
370 matched papers (222 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
1 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (GATA3).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
370
370 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
370 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
222 in the last 10 years · medium confidence · 80.3th percentile (publications denominator)
Phrase hits: 370 · MeSH hits: 0
Who's working on it?
1,210
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Usui T7 papers · 2019
Division of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center Kyoto, Japan.
Papers in Europe PMC - 02Khan AA5 papers · 2025
McMaster University, Hamilton, ON, Canada. aliya@mcmaster.ca.
Papers in Europe PMC - 03Li Y4 papers · 2025
Prenatal Diagnosis Center of Henan Women and Children Hospital and Institute, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Papers in Europe PMC - 04Palermo A4 papers · 2026
Unit of Metabolic Bone and Thyroid Disorders, Fondazione Policlinico Campus Bio-medico, and Unit of Endocrinology and Diabetes, Campus Bio-medico University, Rome, Italy.
Papers in Europe PMC - 05Rejnmark L4 papers · 2025
Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark.
Papers in Europe PMC - 06Shoback DM4 papers · 2025
Professor of Medicine, University of California, San Francisco, Endocrine Research Unit, San Francisco Veterans Affairs Medical Center, San Francisco, CA, USA.
Papers in Europe PMC - 07Cetani F3 papers · 2026
Endocrine Unit, University Hospital of Pisa, 56126 Pisa, Italy.
Papers in Europe PMC - 08Chen C3 papers · 2025
Department of Neurology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, 362000, People's Republic of China.
Papers in Europe PMC - 09Gagnon C3 papers · 2025
CHU de Québec-Université Laval Research Centre and Department of Medicine, Université Laval, Quebec City, Quebec, Canada.
Papers in Europe PMC - 10Jiang Y3 papers · 2023
Center for Prenatal Diagnosis, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, People's Republic of China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Hypoparathyroidism-sensorineural deafness-renal disease syndrome" OR "Barakat syndrome" OR "HDR syndrome" OR "Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome" OR "hypoparathyroidism, deafness, and renal anomalies syndrome" OR "hypoparathyroidism, sensorineural deafness, and renal disease" OR "hypoparathyroidism-deafness-renal disease syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hypoparathyroidism-sensorineural deafness-renal disease syndrome" OR "Barakat syndrome" OR "HDR syndrome" OR "Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome" OR "hypoparathyroidism, deafness, and renal anomalies syndrome" OR "hypoparathyroidism, sensorineural deafness, and renal disease" OR "hypoparathyroidism-deafness-renal disease syndrome" OR "GATA3"
Recall-expansion terms: GATA3
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (370) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T19:32:53.058Z