ORPHA:98934
Huntington disease-like 2
Also known as: HDL2
Publications
184
67.5th percentile
Trials
0
Interventional, condition-specific
Researchers
978
Distinct authors in sample
Gene link
JPH3
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterized by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia).
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:0011671
- MeSH:C564708
- OMIM:606438
- UMLS:C1847987
Additional Mondo synonyms (1)
Huntington disease-like type 2
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.”
2/6 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
Definitive — JPH3
- LiteraturePresent
184 matched papers (106 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 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 (JPH3).
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?
184
184 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.
184 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).
106 in the last 10 years · medium confidence · 67.5th percentile (publications denominator)
Phrase hits: 184 · MeSH hits: 4
Who's working on it?
978
Distinct author names in 184 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.
- 01Krause A12 papers · 2024
Division of Human Genetics National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand Johannesburg South Africa.
Papers in Europe PMC - 02Margolis RL10 papers · 2024
Division of Neurobiology, The John Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Psychiatry, The John Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, The John Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neuroscience, The John Hopkins University School of Medicine, Baltimore, MD 21205, USA; Baltimore Huntington's Disease Center, The John Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Papers in Europe PMC - 03Anderson DG8 papers · 2024
The University of the Witwatersrand Donald Gordon Medical Centre Neurology Johannesburg South Africa.
Papers in Europe PMC - 04Ross CA7 papers · 2021
Division of Neurobiology, The John Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Psychiatry, The John Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, The John Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pharmacology, The John Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neuroscience, The John Hopkins University School of Medicine, Baltimore, MD 21205, USA; Program in Cellular and Molecular Medicine, The John Hopkins University School of Medicine, Baltimore, MD 21205, USA; Baltimore Huntington's Disease Center, The John Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Papers in Europe PMC - 05Swanson MS7 papers · 2019
Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine, Gainesville, FL 32610, USA. Electronic address: mswanson@ufl.edu.
Papers in Europe PMC - 06Carr J6 papers · 2026
Division of Neurology, Department of Medicine University of Stellenbosch Cape Town South Africa.
Papers in Europe PMC - 07Ferreira-Correia A6 papers · 2024
Department of Psychology School of Human and Community Development, University of the Witwatersrand. Johannesburg South Africa.
Papers in Europe PMC - 08Houlden H6 papers · 2025
Department of Neurodegenerative Disorders, Queen Square Institute of Neurology, UCL, London, UK.
Papers in Europe PMC - 09Walker RH6 papers · 2024
Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY 10468, USA. ruth.walker@mssm.edu
Papers in Europe PMC - 10Ranum LP5 papers · 2018
Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine, Gainesville, FL 32610, USA.
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
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.
"Huntington disease-like 2" OR "Huntington disease-like type 2"
MeSH descriptor terms unioned into the query: Huntington Disease-Like 2
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Huntington disease-like 2" OR "Huntington disease-like type 2" OR "JPH3"
Recall-expansion terms: JPH3
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: HDL2
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T05:44:55.427Z