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ORPHA:157941

Huntington disease-like 1

low confidenceDisorder

Also known as: Early-onset prion disease with prominent psychiatric features · HDL1

Publications

7,551

Trials

0

Interventional, condition-specific

Researchers

222

Distinct authors in sample

Gene link

PRNP

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, , urine incontinence and pyramidal abnormalities.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

HLN1 · Huntington disease-like type 1 · Huntington-like neurodegenerative disorder 1 · PRNP neurodegenerative disease with chorea · early-onset prion disease with prominent psychiatric features · neurodegenerative disease with chorea caused by mutation in PRNP

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 — PRNP

  2. LiteraturePresent

    7,551 matched papers (4,018 in last 10 years) Source

  3. Phenotype characterisedPresent

    60 HPO annotations (e.g. Atypical behavior; Dementia; Delusion) 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 (PRNP).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

60

Associated phenotypes · MONDO:0011299

  • Atypical behavior
  • Dementia
  • Delusion
  • Dysarthria
  • Involuntary movements

Showing 5 of 60 — 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?

7,551

7,551 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

7,551 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).

4,018 in the last 10 years · low confidence

Phrase hits: 37 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

222

Distinct author names in 37 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
    Nishizawa M3 papers · 2009
    Papers in Europe PMC
  2. 02
    Shimohata T3 papers · 2009

    Department of Neurology, Brain Research Institute, Niigata University.

    Papers in Europe PMC
  3. 03
    Tsuji S3 papers · 2016

    Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University.

    Papers in Europe PMC
  4. 04
    Hirota K2 papers · 2007
    Papers in Europe PMC
  5. 05
    Honma Y2 papers · 2007
    Papers in Europe PMC
  6. 06
    Huang J2 papers · 2023

    BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.

    Papers in Europe PMC
  7. 07
    Kawachi I2 papers · 2007
    Papers in Europe PMC
  8. 08
    Lu Y2 papers · 2022

    Innovation Center for Neurological Disorders, Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  9. 09
    Onodera O2 papers · 2007
    Papers in Europe PMC
  10. 10
    Sanpei K2 papers · 2007
    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 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 Huntington disease-like 1 — 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.

("Huntington disease-like 1" OR "Early-onset prion disease with prominent psychiatric features" OR "Huntington disease-like type 1" OR "Huntington-like neurodegenerative disorder 1" OR "PRNP neurodegenerative disease with chorea" OR "neurodegenerative disease with chorea caused by mutation in PRNP") OR (MESH:"Huntington Disease-Like 1") OR ("PRNP" OR "PRNP syndrome" OR "PRNP-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Huntington Disease-Like 1

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

"Huntington disease-like 1" OR "Early-onset prion disease with prominent psychiatric features" OR "Huntington disease-like type 1" OR "Huntington-like neurodegenerative disorder 1" OR "PRNP neurodegenerative disease with chorea" OR "neurodegenerative disease with chorea caused by mutation in PRNP"

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

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: HDL1; HLN1

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (7551) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T08:02:37.576Z