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ORPHA:1173

Cerebellar ataxia-hypogonadism syndrome

high confidenceDisorder

Also known as: Gordon-Holmes syndrome · Luteinizing hormone-releasing hormone deficiency with ataxia

Publications

686

84th percentile

Trials

0

Interventional, condition-specific

Researchers

1,308

Distinct authors in sample

Gene link

RNF216

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Cerebellar -hypogonadism syndrome is a very rare neurodegenerative disorder characterized by the combination of cerebellar with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar -hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as -hypogonadism-choroidal syndrome.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

luteinizing hormone-releasing hormone deficiency with ataxia

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.

  1. Gene identifiedPresent

    Strong — RNF216

  2. LiteraturePresent

    686 matched papers (545 in last 10 years) Source

  3. Phenotype characterisedPresent

    32 HPO annotations (e.g. Brachycephaly; Abnormal electroretinogram; Optic atrophy) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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 (RNF216).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

32

Associated phenotypes · MONDO:0008935

  • Brachycephaly
  • Abnormal electroretinogram
  • Optic atrophy
  • Atypical behavior
  • Abnormality of the hypothalamus-pituitary axis

Showing 5 of 32 — open Monarch for the full list.

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?

686

686 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.

686 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).

545 in the last 10 years · high confidence · 84th percentile (publications denominator)

Phrase hits: 214 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,308

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
    Synofzik M11 papers · 2025

    Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen and German Center for Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany.

    Papers in Europe PMC
  2. 02
    Hufnagel RB7 papers · 2026

    Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.

    Papers in Europe PMC
  3. 03
    Liu J5 papers · 2026

    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.

    Papers in Europe PMC
  4. 04
    Schüle R5 papers · 2017

    Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.

    Papers in Europe PMC
  5. 05
    Cui M4 papers · 2024

    Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.

    Papers in Europe PMC
  6. 06
    Dong Q4 papers · 2024

    Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.

    Papers in Europe PMC
  7. 07
    George AJ4 papers · 2024

    Neuroscience Institute, Georgia State University, Atlanta, GA, United States.

    Papers in Europe PMC
  8. 08
    Howard SR4 papers · 2024

    Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, EC1M 6BQ, UK. Electronic address: s.howard@qmul.ac.uk.

    Papers in Europe PMC
  9. 09
    Kinsella JA4 papers · 2020

    Neurology Department, St. Vincent's University Hospital and University College Dublin, Ireland.

    Papers in Europe PMC
  10. 10
    Kretzschmar D4 papers · 2022

    Oregon Institute of Occupational Health Sciences, Oregon Health & Science University, 3181 SW Sam Jackson Park Road, Portland, Oregon, 97239.

    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.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Cerebellar ataxia-hypogonadism 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.

("Cerebellar ataxia-hypogonadism syndrome" OR "Gordon-Holmes syndrome" OR "Luteinizing hormone-releasing hormone deficiency with ataxia") OR ("RNF216" OR "RNF216 syndrome" OR "RNF216-related")

Run this search on Europe PMC

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

"Cerebellar ataxia-hypogonadism syndrome" OR "Gordon-Holmes syndrome" OR "Luteinizing hormone-releasing hormone deficiency with ataxia"

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 multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T16:34:23.246Z