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ORPHA:2855

Perrault syndrome

low confidenceDisorder

Also known as: XX gonadal dysgenesis-deafness syndrome · XX gonadal dysgenesis-hearing loss syndrome

Publications

3,942

Trials

0

Interventional, condition-specific

Researchers

1,294

Distinct authors in sample

Gene link

HSD17B4, LARS2, PEX6

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic disease characterized by a clinical picture of variable severity associating sensorineural hearing impairment with ovarian dysgenesis in females, sometimes neurologic disorder, and exceptionally renal disease. The disease affects both sexes, but hypogonadism is not a feature in males.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

XX gonodal dysgenesis-deafness 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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — HSD17B4, LARS2, PEX6, SGO2

  2. LiteraturePresent

    3,942 matched papers (2,763 in last 10 years) Source

  3. Phenotype characterisedPresent

    115 HPO annotations (e.g. Premature ovarian insufficiency; Hypoplasia of the uterus; Sensorineural hearing impairment) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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 (HSD17B4, LARS2, PEX6…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

115

Associated phenotypes · MONDO:0017312

  • Premature ovarian insufficiency
  • Hypoplasia of the uterus
  • Sensorineural hearing impairment
  • Irregular menstruation
  • Streak ovary

Showing 5 of 115 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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?

3,942

3,942 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

3,942 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).

2,763 in the last 10 years · low confidence

Phrase hits: 530 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,294

Distinct author names in 200 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.

  1. 01
    Newman WG18 papers · 2026

    Manchester Centre for Genomic Medicine, University of Manchester and Central Manchester University Hospitals, NHS Foundation Trust, Manchester, UK.

    Papers in Europe PMC
  2. 02
    Auburger G16 papers · 2024

    Experimental Neurology, Goethe University, 60590 Frankfurt am Main, Germany; and.

    Papers in Europe PMC
  3. 03
    Gispert S16 papers · 2024

    Experimental Neurology, Goethe University, 60590 Frankfurt am Main, Germany; and.

    Papers in Europe PMC
  4. 04
    Key J16 papers · 2024

    Experimental Neurology, Goethe University, 60590 Frankfurt am Main, Germany; and.

    Papers in Europe PMC
  5. 05
    Friedman TB9 papers · 2026

    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  6. 06
    Koepf G9 papers · 2023

    Experimental Neurology, Medical Faculty, Goethe University, 60590 Frankfurt am Main, Germany.

    Papers in Europe PMC
  7. 07
    O'Keefe RT9 papers · 2026

    Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

    Papers in Europe PMC
  8. 08
    Rea A9 papers · 2026

    Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.

    Papers in Europe PMC
  9. 09
    Taylor RW9 papers · 2026

    Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

    Papers in Europe PMC
  10. 10
    Torres-Odio S9 papers · 2022

    Department of Microbial Pathogenesis and Immunology, College of Medicine, Texas A&M University Health Science Center, Bryan, TX 77807.

    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.

low 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (1)

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 — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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" OR "XX gonadal dysgenesis-deafness syndrome" OR "XX gonadal dysgenesis-hearing loss syndrome" OR "XX gonodal dysgenesis-deafness syndrome") OR ("HSD17B4" OR "HSD17B4 syndrome" OR "HSD17B4-related" OR "LARS2" OR "LARS2 syndrome" OR "LARS2-related" OR "PEX6" OR "PEX6 syndrome" OR "PEX6-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Perrault syndrome" OR "XX gonadal dysgenesis-deafness syndrome" OR "XX gonadal dysgenesis-hearing loss syndrome" OR "XX gonodal dysgenesis-deafness syndrome"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (3942) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T21:27:16.125Z