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ORPHA:157850

Pantothenate kinase-associated neurodegeneration

medium confidenceDisorder

Also known as: Hallervorden-Spatz syndrome · NBIA1 · Neurodegeneration with brain iron accumulation type 1 · PKAN

Publications

1,974

92.4th percentile

Trials

4

Interventional, condition-specific

Researchers

1,049

Distinct authors in sample

Gene link

PANK2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurodegenerative disorder characterized by dystonia, dysarthria, retinal degeneration and abnormal iron accumulation in the globus pallidus and substantia nigra with a characteristic ''eye-of-the-tiger'' sign on T2-weighted MRI. Forms include classic disease with early onset and rapid progression and atypical disease with later onset and slower progression.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

Hallervorden-Spatz disease · neurodegeneration with brain iron accumulation 1 · neurodegeneration with brain iron accumulation type 1 · pantothenate kinase-associated neurodegeneration · pigmentary pallidal degeneration

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — PANK2

  2. LiteraturePresent

    1,974 matched papers (797 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    4 matched on ClinicalTrials.gov

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 (PANK2).

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?

1,974

1,974 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=5449) is 41.

1,974 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).

797 in the last 10 years · medium confidence · 92.4th percentile (publications denominator)

Phrase hits: 1,974 · MeSH hits: 21

Open Europe PMC search

Who's working on it?

1,049

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Rohani M9 papers · 2024

    Iran University of Medical Sciences, Tehran.

    Papers in Europe PMC
  2. 02
    Wang J8 papers · 2025

    Key Laboratory of Systems Health Science of Zhejiang Province, School of Life Science, Hangzhou Institute for Advanced Studies, University of Chinese Academy of Sciences, Hangzhou, 310024, China.

    Papers in Europe PMC
  3. 03
    Álvarez-Córdoba M7 papers · 2025

    Centro Andaluz de Biología del Desarrollo (CABD), Consejo Superior de Investigaciones Científicas (CSIC), Universidad Pablo de Olavide, 41013 Sevilla, Spain.

    Papers in Europe PMC
  4. 04
    Reche-López D7 papers · 2025

    Centro Andaluz de Biología del Desarrollo (CABD), Consejo Superior de Investigaciones Científicas (CSIC), Universidad Pablo de Olavide, 41013 Sevilla, Spain.

    Papers in Europe PMC
  5. 05
    Stoeter P7 papers · 2025

    Department of Radiology, Centros de Diagnóstico y Medicina Avanzada y de Conferencias Médicas y Telemedicina, Dominican Republic.

    Papers in Europe PMC
  6. 06
    Cilleros-Holgado P6 papers · 2025

    Centro Andaluz de Biología del Desarrollo (CABD), Consejo Superior de Investigaciones Científicas (CSIC), Universidad Pablo de Olavide, 41013 Sevilla, Spain.

    Papers in Europe PMC
  7. 07
    Munuera-Cabeza M6 papers · 2023

    Centro Andaluz de Biología del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013, Sevilla, Spain.

    Papers in Europe PMC
  8. 08
    Piñero-Pérez R6 papers · 2025

    Centro Andaluz de Biología del Desarrollo (CABD), Consejo Superior de Investigaciones Científicas (CSIC), Universidad Pablo de Olavide, 41013 Sevilla, Spain.

    Papers in Europe PMC
  9. 09
    Povea-Cabello S6 papers · 2023

    Centro Andaluz de Biología del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013, Sevilla, Spain.

    Papers in Europe PMC
  10. 10
    Suárez-Carrillo A6 papers · 2023

    Centro Andaluz de Biología del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013, Sevilla, Spain.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).

medium confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

4 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Pantothenate kinase-associated neurodegeneration" OR "Hallervorden-Spatz syndrome" OR "NBIA1" OR "Neurodegeneration with brain iron accumulation type 1" OR "Hallervorden-Spatz disease" OR "neurodegeneration with brain iron accumulation 1" OR "pigmentary pallidal degeneration"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Pantothenate Kinase-Associated Neurodegeneration

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

"Pantothenate kinase-associated neurodegeneration" OR "Hallervorden-Spatz syndrome" OR "NBIA1" OR "Neurodegeneration with brain iron accumulation type 1" OR "Hallervorden-Spatz disease" OR "neurodegeneration with brain iron accumulation 1" OR "pigmentary pallidal degeneration" OR "PANK2"

Recall-expansion terms: PANK2

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 4 interventional · 3 observational · 1 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PKAN

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 2026-07-27T08:02:09.490Z