hereditary neuropathy with liability to pressure palsies
Findings
No curated finding names hereditary neuropathy with liability to pressure palsies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.
Definition from the Mondo Disease Ontology (MONDO:0008087), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased motor nerve conduction velocityHPOHP:0003431
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Froment signHPOHP:0032121
- 1 of 1 reported patient
- Hand muscle weaknessHPOHP:0030237
- 1 of 1 reported patient
- Hand paresthesiaHPOHP:0033660
- 1 of 1 reported patient
- HypoesthesiaHPOHP:0033748
- 1 of 1 reported patient
- HyporeflexiaHPOHP:0001265
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
Show the remaining 12
- Abnormality of the voiceHPOHP:0001608
- Occasional (5% to 29% of cases)
- Cranial nerve paralysisHPOHP:0006824
- Occasional (5% to 29% of cases)
- Distal amyotrophyHPOHP:0003693
- Occasional (5% to 29% of cases)
- Exercise-induced myalgiaHPOHP:0003738
- Occasional (5% to 29% of cases)
- Muscle spasmHPOHP:0003394
- Occasional (5% to 29% of cases)
- Pes cavusHPOHP:0001761
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PMP22HGNC:9118
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · ClinGen · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
8 names
Resolves to: hereditary neuropathy with liability to pressure palsies
- Also called
- current pressure-sensitive neuropathyhereditary liability to pressure palsiesheterozygous microdeletion 17p11.2p12HNPPneuropathy, recurrent, with pressure palsiespotato-grubbing palsyTomaculous neuropathytulip-bulb digger's palsy