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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

Publications

6,135

92.5th percentile

Trials

1

Interventional, condition-specific

Researchers

1,093

Distinct authors in sample

Gene link

PMP22

Definitive

Readiness

5/6

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — PMP22

  2. LiteraturePresent

    6,135 matched papers (3,184 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Peripheral neuropathy; Hyporeflexia; Pes cavus) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

28

Associated phenotypes · MONDO:0008087

  • Peripheral neuropathy
  • Hyporeflexia
  • Pes cavus
  • Respiratory insufficiency
  • Exercise-induced myalgia

Showing 5 of 28 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

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?

6,135

6,135 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.

6,135 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).

3,184 in the last 10 years · medium confidence · 92.5th 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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th 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.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Hereditary neuropathy with liability to pressure palsies — 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.

("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" OR "PMP22 syndrome" OR "PMP22-related")

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"

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: ok — strategies attempted: phrase; 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