ORPHA:642976
Perrault syndrome type 2
Also known as: XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations
Publications
479
79.1th percentile
Trials
0
Interventional, condition-specific
Researchers
237
Distinct authors in sample
Gene link
HARS2
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A form of Perrault syndrome characterized by sensorineural, generally bilateral, prelingual, and sometimes asymmetric hearing loss, primary ovarian dysgenesis in females and neurological features of variable severity including cerebellar dysfunction/athrophy with , , and behavioral symptoms. Additional clinical features may involve , muscular and renal manifestations.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013972
- OMIM:614926
- UMLS:C3554105
Additional Mondo synonyms (3)
HARS2 Perrault syndrome · Perrault syndrome 2 · Perrault syndrome caused by mutation in HARS2
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — HARS2
- LiteraturePresent
479 matched papers (353 in last 10 years) Source
- Phenotype characterisedPresent
3 HPO annotations (e.g. Streak ovary; Sensorineural hearing impairment; Amenorrhea) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (HARS2).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
3
Associated phenotypes · MONDO:0013972
- Streak ovary
- Sensorineural hearing impairment
- Amenorrhea
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
479
479 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=3967) is 59.
479 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
353 in the last 10 years · high confidence · 79.1th percentile (publications denominator)
Phrase hits: 30 · MeSH hits: 0
Who's working on it?
237
Distinct author names in 30 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Antonellis A3 papers · 2022
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, United States; Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI, United States. Electronic address: antonell@umich.edu.
Papers in Europe PMC - 02Li H2 papers · 2024
BGI-Anhui Clinical Laboratory, BGI-Shenzhen, 236000, Fuyang, China.
Papers in Europe PMC - 03Li T2 papers · 2022
College of Public Health, Zhengzhou University, Zhengzhou, China.
Papers in Europe PMC - 04Liu H2 papers · 2021
Department of Otolaryngology-Head and Neck Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Papers in Europe PMC - 05Simons C2 papers · 2018
Institute for Molecular Bioscience, University of Queensland, St. Lucia, QLD 4072, Australia; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, VIC 3052, Australia.
Papers in Europe PMC - 06van der Knaap MS2 papers · 2018
Department of Child Neurology, VU University Medical Center, and Amsterdam Neuroscience, 1081 HZ Amsterdam, the Netherlands; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, 1081 HZ Amsterdam, the Netherlands.
Papers in Europe PMC - 07Wang L2 papers · 2023
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.
Papers in Europe PMC - 08Wolf NI2 papers · 2018
Department of Child Neurology, VU University Medical Center, and Amsterdam Neuroscience, 1081 HZ Amsterdam, the Netherlands.
Papers in Europe PMC - 09Abbink TE1 paper · 2013Papers in Europe PMC
- 10Aboagye ET1 paper · 2022
West African Centre for Cell Biology of Infectious Pathogens (WACCBIP), University of Ghana, Accra, LG 54, Ghana.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
Broader category Perrault syndrome also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: Perrault syndrome
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Perrault syndrome type 2 — check Associations / patient organisations on that page.
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.
("Perrault syndrome type 2" OR "XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations" OR "HARS2 Perrault syndrome" OR "Perrault syndrome 2" OR "Perrault syndrome caused by mutation in HARS2") OR ("HARS2" OR "HARS2 syndrome" OR "HARS2-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Perrault syndrome type 2" OR "XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations" OR "HARS2 Perrault syndrome" OR "Perrault syndrome 2" OR "Perrault syndrome caused by mutation in HARS2"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Perrault syndrome"
Query health: ok — strategies attempted: phrase; with hits: phrase
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
Ingested 2026-07-27T19:38:34.349Z