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ORPHA:640

Hereditary neuropathy with liability to pressure palsies

medium confidenceDisorder

Also known as: Current pressure-sensitive neuropathy · HNPP · Heterozygous microdeletion 17p11.2p12 · Potato-grubbing palsy · Tomaculous neuropathy · Tulip-bulb digger's palsy

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,404

89.9th percentile

Trials

1

Interventional, condition-specific

Researchers

1,093

Distinct authors in sample

Gene link

PMP22

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurologic disease characterized by recurrent mononeuropathies usually triggered by minor physical activities innocuous to healthy people.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (8)

current pressure-sensitive neuropathy · hereditary liability to pressure palsies · hereditary neuropathy with liability to pressure palsies · heterozygous microdeletion 17p11.2p12 · neuropathy, recurrent, with pressure palsies · potato-grubbing palsy · tomaculous neuropathy · tulip-bulb digger's palsy

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 — PMP22

  2. LiteraturePresent

    1,404 matched papers (482 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

    1 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 (PMP22).

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?

1,404

1,404 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.

1,404 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).

482 in the last 10 years · medium confidence · 89.9th percentile (publications denominator)

Phrase hits: 1,404 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,093

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
    Li J9 papers · 2026

    Department of Neurology and Translational Neuroscience Initiative, Wayne State University School of Medicine, Detroit, MI 48202, USA.

    Papers in Europe PMC
  2. 02
    Pareyson D7 papers · 2026

    Clinics of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy. Electronic address: davide.pareyson@istituto-besta.it.

    Papers in Europe PMC
  3. 03
    Reilly MM7 papers · 2026

    Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square, London, UK.

    Papers in Europe PMC
  4. 04
    Bjelica B5 papers · 2026

    Department for Neuromuscular Disorders, Faculty of Medicine, Neurology Clinic, Clinical Center of Serbia, University of Belgrade, 6, Dr Subotic Street, 11000, Belgrade, Serbia.

    Papers in Europe PMC
  5. 05
    Peric S5 papers · 2026

    Department for Neuromuscular Disorders, Faculty of Medicine, Neurology Clinic, Clinical Center of Serbia, University of Belgrade, 6, Dr Subotic Street, 11000, Belgrade, Serbia. stojanperic@gmail.com.

    Papers in Europe PMC
  6. 06
    Bozovic I4 papers · 2026

    Neurology Clinic, Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, 6, Dr Subotic Street, 11 000, Belgrade, Serbia.

    Papers in Europe PMC
  7. 07
    Choi BO4 papers · 2025

    Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.

    Papers in Europe PMC
  8. 08
    Chung KW4 papers · 2025

    Department of Biological Sciences, Kongju National University, Gongju, South Korea.

    Papers in Europe PMC
  9. 09
    Laura M4 papers · 2026

    Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.

    Papers in Europe PMC
  10. 10
    Moss KR4 papers · 2026

    Department of Physical Medicine and Rehabilitation, University of Missouri School of Medicine, Columbia, Missouri, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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.

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.

"Hereditary neuropathy with liability to pressure palsies" OR "Current pressure-sensitive neuropathy" OR "Heterozygous microdeletion 17p11.2p12" OR "Potato-grubbing palsy" OR "Tomaculous neuropathy" OR "Tulip-bulb digger's palsy" OR "hereditary liability to pressure palsies" OR "neuropathy, recurrent, with pressure palsies"

Run this search on Europe PMC

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

"Hereditary neuropathy with liability to pressure palsies" OR "Current pressure-sensitive neuropathy" OR "Heterozygous microdeletion 17p11.2p12" OR "Potato-grubbing palsy" OR "Tomaculous neuropathy" OR "Tulip-bulb digger's palsy" OR "hereditary liability to pressure palsies" OR "neuropathy, recurrent, with pressure palsies" OR "PMP22"

Recall-expansion terms: PMP22

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

Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: HNPP

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 2026-07-26T14:41:04.601Z