MCID: NRP051
MIFTS: 56

Neuropathy, Hereditary, with Liability to Pressure Palsies

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Neuropathy, Hereditary, with Liability to Pressure Palsies

MalaCards integrated aliases for Neuropathy, Hereditary, with Liability to Pressure Palsies:

Name: Neuropathy, Hereditary, with Liability to Pressure Palsies 57
Hereditary Neuropathy with Liability to Pressure Palsies 12 76 24 25 59 75 37 15
Tomaculous Neuropathy 57 12 25 59 75 55
Hnpp 57 12 24 25 59 75
Neuropathy, Recurrent, with Pressure Palsies 57 13
Hereditary Pressure Sensitive Neuropathy 24 25
Current Pressure-Sensitive Neuropathy 12 59
Heterozygous Microdeletion 17p11.2p12 12 59
Familial Recurrent Polyneuropathy 12 75
Tulip-Bulb Digger's Palsy 12 59
Potato-Grubbing Palsy 12 59
Hereditary Motor and Sensory Neuropathies 73
Hereditary Liability to Pressure Palsies 73
Hereditary Motor and Sensory Neuropathy 25
Familial Pressure Sensitive Neuropathy 25
Inherited Tendency to Pressure Palsies 25
Polyneuropathy, Familial Recurrent 57
Nerve Compression Syndrome 73
Entrapment Neuropathies 73
Compression Neuropathy 25
Entrapment Neuropathy 25

Characteristics:

Orphanet epidemiological data:

59
hereditary neuropathy with liability to pressure palsies
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in first and second decades
precipitated by mechanical compression or pressure on nerve
allelic disorder to charcot-marie-tooth disease type 1a


HPO:

32
neuropathy, hereditary, with liability to pressure palsies:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Many individuals with the pmp22 1.5-mb deletion have few (or no) symptoms and remain undiagnosed. the penetrance is not known...

Classifications:



External Ids:

OMIM 57 162500
Disease Ontology 12 DOID:0060843
ICD10 33 G60.0
Orphanet 59 ORPHA640
UMLS via Orphanet 74 C0393814
ICD10 via Orphanet 34 G60.0
MedGen 42 C0393814
MeSH 44 D011115
KEGG 37 H01296
UMLS 73 C0393814

Summaries for Neuropathy, Hereditary, with Liability to Pressure Palsies

Genetics Home Reference : 25 Hereditary neuropathy with liability to pressure palsies is a disorder that affects peripheral nerves. These nerves connect the brain and spinal cord to muscles and sensory cells that detect touch, pain, and temperature. In people with this disorder, the peripheral nerves are unusually sensitive to pressure, such as the pressure that occurs when carrying heavy grocery bags, leaning on an elbow, or sitting without changing position, particularly with crossed legs. These activities would not normally cause sensation problems in people without the disorder.

MalaCards based summary : Neuropathy, Hereditary, with Liability to Pressure Palsies, also known as hereditary neuropathy with liability to pressure palsies, is related to hereditary neuropathy with liability to pressure palsy and hereditary motor and sensory neuropathy, type iic, and has symptoms including neuralgia An important gene associated with Neuropathy, Hereditary, with Liability to Pressure Palsies is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways is Neural Crest Differentiation. The drugs Lidocaine and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and testes, and related phenotypes are hyporeflexia and vocal cord paralysis

UniProtKB/Swiss-Prot : 75 Hereditary neuropathy with liability to pressure palsies: A neurologic disorder characterized by transient episodes of decreased perception or peripheral nerve palsies after slight traction, compression or minor traumas.

Disease Ontology : 12 A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has material basis in deletion or point mutation of the PMP22 gene on chromosome 17p12.

Wikipedia : 76 Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) is a peripheral neuropathy, a disorder of... more...

Description from OMIM: 162500
GeneReviews: NBK1392

Related Diseases for Neuropathy, Hereditary, with Liability to Pressure Palsies

Diseases related to Neuropathy, Hereditary, with Liability to Pressure Palsies via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 hereditary neuropathy with liability to pressure palsy 32.9 LITAF MPZ PMP22
2 hereditary motor and sensory neuropathy, type iic 31.3 GDAP1 GJB1 KIF1B MFN2 MPZ
3 chronic inflammatory demyelinating polyradiculoneuropathy 30.2 MPZ PMP22
4 polyradiculoneuropathy 30.1 MPZ PMP22
5 hereditary neuropathies 29.9 GJB1 MFN2 MPZ PMP22
6 polyneuropathy 28.9 GDAP1 MPZ PMP22
7 neuropathy 27.6 EGR2 GDAP1 GJB1 MFN2 MPZ PMP22
8 tooth disease 25.0 EGR2 GDAP1 GJB1 KIF1B LITAF MFN2
9 charcot-marie-tooth disease 24.2 COX10 EGR2 GDAP1 GJB1 KIF1B LITAF
10 hereditary motor and sensory neuropathy v 12.7
11 hereditary motor and sensory neuropathy with acrodystrophy 12.4
12 gdap1-related hereditary motor and sensory neuropathy 12.2
13 nerve compression syndrome 11.6
14 tarsal tunnel syndrome 11.2
15 osteopetrosis, autosomal dominant 2 10.9
16 osteopetrosis, autosomal recessive 1 10.9
17 osteopetrosis, autosomal recessive 2 10.9
18 osteopetrosis, autosomal recessive 5 10.9
19 osteopetrosis, autosomal recessive 3 10.9
20 osteopetrosis, autosomal dominant 1 10.9
21 osteopetrosis, autosomal recessive 4 10.9
22 osteopetrosis, autosomal recessive 6 10.9
23 osteopetrosis, autosomal recessive 7 10.9
24 osteopetrosis 10.9
25 congenital hypomyelination neuropathy 10.5 MPZ PMP22
26 foot drop 10.4 MPZ PMP22
27 roussy-levy hereditary areflexic dystasia 10.4 MPZ PMP22
28 charcot-marie-tooth disease, axonal, type 2i 10.4 KIF1B MPZ
29 charcot-marie-tooth disease, axonal, type 2j 10.4 KIF1B MPZ
30 pelizaeus-merzbacher disease 10.2 MPZ PMP22
31 cauda equina syndrome 10.2 EGR2 PMP22
32 charcot-marie-tooth disease, axonal, type 2l 10.2 KIF1B MPZ
33 guillain-barre syndrome 10.2 MPZ PMP22
34 charcot-marie-tooth disease, axonal, type 2q 10.2 EGR2 MPZ
35 charcot-marie-tooth disease, demyelinating, type 1f 10.2 GJB1 MPZ PMP22
36 charcot-marie-tooth neuropathy type 2a 10.1 KIF1B MFN2
37 charcot-marie-tooth disease type 2a 10.1 KIF1B MFN2
38 neuritis 10.1 MPZ PMP22
39 amyotrophic neuralgia 10.1 GJB1 KIF1B PMP22
40 brachial plexus neuropathy 10.1 GJB1 KIF1B PMP22
41 charcot-marie-tooth disease, axonal, type 2a1 10.1 KIF1B MFN2
42 charcot-marie-tooth disease, axonal, type 2f 10.0 GJB1 KIF1B MPZ
43 diabetic neuropathy 10.0 MPZ PMP22
44 plexopathy 9.9
45 neuromuscular disease 9.8 MPZ PMP22
46 carpal tunnel syndrome 9.7
47 oculopharyngeal muscular dystrophy 9.7
48 mononeuropathy of the median nerve, mild 9.7
49 diabetes mellitus 9.7
50 sciatic neuropathy 9.7

Graphical network of the top 20 diseases related to Neuropathy, Hereditary, with Liability to Pressure Palsies:



Diseases related to Neuropathy, Hereditary, with Liability to Pressure Palsies

Symptoms & Phenotypes for Neuropathy, Hereditary, with Liability to Pressure Palsies

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
hyporeflexia
segmental demyelination/remyelination on nerve biopsy
peroneal muscle weakness, transient, recurrent due to peripheral neuropathy
radial, ulnar, and median nerve muscles may be affected
vocal cord paralysis has been reported
more

Clinical features from OMIM:

162500

Human phenotypes related to Neuropathy, Hereditary, with Liability to Pressure Palsies:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyporeflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001265
2 vocal cord paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001605
3 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
4 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
5 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
6 paresthesia 59 32 frequent (33%) Frequent (79-30%) HP:0003401
7 decreased motor nerve conduction velocity 59 32 hallmark (90%) Very frequent (99-80%) HP:0003431
8 cranial nerve paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006824
9 abnormality of the voice 59 Occasional (29-5%)
10 peripheral neuropathy 59 Very frequent (99-80%)
11 muscle weakness 32 HP:0001324
12 segmental peripheral demyelination/remyelination 32 HP:0003481

UMLS symptoms related to Neuropathy, Hereditary, with Liability to Pressure Palsies:


neuralgia

MGI Mouse Phenotypes related to Neuropathy, Hereditary, with Liability to Pressure Palsies:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 PMP22 GDAP1 GJB1 KIF1B COX10 MFN2
2 cellular MP:0005384 9.92 EGR2 MPZ PMP22 GDAP1 GJB1 LITAF
3 homeostasis/metabolism MP:0005376 9.91 PMP22 GDAP1 GJB1 KIF1B LITAF COX10
4 mortality/aging MP:0010768 9.5 EGR2 MPZ PMP22 GJB1 KIF1B COX10
5 limbs/digits/tail MP:0005371 9.46 EGR2 GDAP1 PMP22 KIF1B
6 nervous system MP:0003631 9.28 PMP22 GDAP1 GJB1 KIF1B LITAF COX10

Drugs & Therapeutics for Neuropathy, Hereditary, with Liability to Pressure Palsies

Drugs for Neuropathy, Hereditary, with Liability to Pressure Palsies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 202)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 137-58-6 3676
2
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 83-43-2 6741
3
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 50-24-8 5755
4
Bupivacaine Approved, Investigational Phase 4,Not Applicable 2180-92-9, 38396-39-3 2474
5
Acetaminophen Approved Phase 4,Phase 2 103-90-2 1983
6
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
7
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
8
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 3 56-12-2 119
9
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 71273 175805
10
Betamethasone Approved, Vet_approved Phase 4,Phase 3 378-44-9 9782
11
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 124-94-7 31307
12
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
13
Hydrocodone Approved, Illicit Phase 4 125-29-1 5284569
14
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
15
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
16
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 2 76-42-6 5284603
17
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-30-3 6037
18
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
19 tannic acid Approved, Nutraceutical Phase 4
20 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
21 Antiemetics Phase 4,Phase 2,Phase 3,Not Applicable
22 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Not Applicable
23 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3,Not Applicable
24 Autonomic Agents Phase 4,Phase 2,Phase 3,Not Applicable
25 Gastrointestinal Agents Phase 4,Phase 2,Phase 3,Not Applicable
26 glucocorticoids Phase 4,Phase 3,Phase 2,Not Applicable
27 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
28 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
30 Methylprednisolone acetate Phase 4,Phase 2,Phase 3,Not Applicable
31 Methylprednisolone Hemisuccinate Phase 4,Phase 2,Phase 3,Not Applicable
32 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Not Applicable
33 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Prednisolone acetate Phase 4,Phase 2,Phase 3,Not Applicable
35 Prednisolone hemisuccinate Phase 4,Phase 2,Phase 3,Not Applicable
36 Prednisolone phosphate Phase 4,Phase 2,Phase 3,Not Applicable
37 Analgesics Phase 4,Phase 3,Phase 2,Not Applicable
38 Analgesics, Non-Narcotic Phase 4,Phase 2,Not Applicable
39 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
40 Anesthetics, Local Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
41 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
42 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
43 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
44 Sodium Channel Blockers Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
45 Anticonvulsants Phase 4,Phase 3,Not Applicable
46 Antimanic Agents Phase 4,Phase 3,Not Applicable
47 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Not Applicable
49 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Not Applicable
50 Respiratory System Agents Phase 4,Phase 3,Not Applicable

Interventional clinical trials:

(show top 50) (show all 266)
# Name Status NCT ID Phase Drugs
1 Postoperative Alpha Lipoic Acid in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
2 Local Steroid Injection vs Placebo in Carpal Tunnel Syndrome Completed NCT02652390 Phase 4 Methylprednisolone 80 mg;Methylprednisolone 40 mg
3 Pain Outcomes of Intra-operative IV Tylenol and/or IV Toradol for Carpal Tunnel and Distal Radius Fracture Surgeries Completed NCT02313675 Phase 4 Acetaminophen;Ketorolac Tromethamine;Saline
4 Efficacy Study of Local Steroid Injection and Wrist Splinting for Carpal Tunnel Syndrome Completed NCT02140632 Phase 4
5 Bupivacaine Versus Lidocaine Local Anesthesia Completed NCT01751347 Phase 4 Bupivacaine;Lidocaine
6 Length of Post Operative Dressing After Carpal Tunnel Release Completed NCT01310218 Phase 4
7 A Study Of Lidocaine Patch 5% Alone, Gabapentin Alone, And Lidocaine Patch 5% And Gabapentin In Combination For The Relief Of Pain In Patients With Diverse Peripheral Neuropathic Pain Conditions Completed NCT00904202 Phase 4 Placebo Capsules + Placebo Patch;Placebo capsules + Lidoderm®;Gabapentin + Placebo;Gabapentin + Lidoderm®;Gabapentin 300 mg capsules 1800 mg/day + placebo patch;Gabapentin 1800 mg/day + Lidoderm patch
8 Patient Controlled Regional Analgesia Following Carpal Tunnel Release: A Double-Blind Study Using Distal Perineural Catheters Completed NCT00678314 Phase 4 Ropivacaine 0.2%;Ropivacaine 0.75%;Normal saline
9 Therapeutic Effects Analysis of Pudendal Nerve Infiltrations After 3 Months, in Patients Suffering of Pudendal Neuralgia Completed NCT00851513 Phase 4 Lidocaine;Depmedrol
10 Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome Completed NCT00277563 Phase 4
11 Narcotic vs. Non-narcotic Pain Study Protocol Recruiting NCT01974609 Phase 4 Narcotic;non-narcotic
12 Non-surgical Treatment of Carpal Tunnel Syndrome: Night Splint Versus Local Corticosteroid Infiltration Active, not recruiting NCT03196817 Phase 4 betamethasone dipropionate, betamethasone disodium phosphate and lidocaine 2%
13 Injection Versus Splinting in Carpal Tunnel Syndrome Active, not recruiting NCT02038452 Phase 4 Depo-Medrone
14 Post-operative Analgesia in Elective, Soft-tissue Hand Surgery Enrolling by invitation NCT02029235 Phase 4 Acetaminophen/Hydrocodone;Acetaminophen/Ibuprofen
15 Preoperative Antibiotics for Carpal Tunnel Release Surgery Not yet recruiting NCT03432858 Phase 4 Vancomycin;Cefazolin;Saline Solution
16 Patient Satisfaction With Pain Relief After Ambulatory Hand Surgery Terminated NCT01588158 Phase 4 Acetaminophen;Vicodin
17 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4 Triamcinolone;Lidocaine
18 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
19 Carpal Tunnel Syndrome Release Using PSU Retractor Unknown status NCT01017471 Phase 3
20 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
21 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome Completed NCT02141035 Phase 2, Phase 3 Acetyl-l-carnitine;placebo
22 Sonographic Examination Cubital Tunnel Release Completed NCT02739945 Phase 3
23 Sonography-guided Steroid Injection for Carpal Tunnel Syndrome Completed NCT02575729 Phase 3 betamethasone
24 Preoperative Gabapentine for Carpal Tunnel Completed NCT01632215 Phase 3 Gabapentine
25 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Completed NCT02604186 Phase 2, Phase 3
26 Steroid Injection Treatment of Carpal Tunnel Syndrome Completed NCT00806871 Phase 2, Phase 3 Methylprednisolone 40 mg;Methylprednisolone 80 mg;Sodium chloride
27 Gabapentin for Carpal Tunnel Syndrome Completed NCT00137735 Phase 3 Gabapentin
28 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
29 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3 PXT3003
30 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
31 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Active, not recruiting NCT02579759 Phase 3 PXT3003 dose 1;PXT3003 dose 2;placebo
32 Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome Enrolling by invitation NCT03184584 Phase 2, Phase 3 PBI-4050
33 Assessment of the Effectiveness of Ultrasound-guided Acupuncture in the Management of Carpal Tunnel Syndrome Not yet recruiting NCT02870673 Phase 2, Phase 3 SHINCORT;XYLOCAINE
34 Erythropoietin Spinal Cord Compression Randomized Trial Terminated NCT00220675 Phase 2, Phase 3 Erythropoietin infusion
35 NeuroPath Comparative Validation Study Plan Terminated NCT00393549 Phase 3
36 A Study of AQUAVAN® Injection in the Presence of Pre-Medication in Patients Undergoing Minor Surgical Procedures Terminated NCT00209560 Phase 3 fospropofol disodium
37 Safety and Efficacy of Lidoderm (Lidocaine Patch 5%) in Treating Moderate to Severe Pain Associated With Carpal Tunnel Syndrome Terminated NCT00266214 Phase 3 lidocaine patch 5%
38 Carpal Tunnel Syndrome and Static Magnetic Field Therapy Unknown status NCT00521495 Phase 2
39 Carpal Tunnel Syndrome Treated With 830nm Diode Laser Unknown status NCT00514462 Phase 1, Phase 2
40 Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease Completed NCT00541164 Phase 1, Phase 2 Coenzyme Q10
41 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
42 Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A Completed NCT01401257 Phase 2 PXT3003 Low dose;PXT3003 Intermediate Dose;PXT3003 High Dose
43 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2 Placebo;ascorbic acid
44 The Treatment of the Median Nerve for the Elimination of the Symptoms Associated With the Carpal Tunnel Syndrome Completed NCT00634738 Phase 1, Phase 2
45 L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1 Completed NCT01733407 Phase 1, Phase 2 L-serine;placebo
46 Comparison of Effect of Anterior Subcutaneous and Submuscular Transposition on Cubital Tunnel Syndrome Completed NCT01109901 Phase 2
47 A Pilot Study to Evaluate the Effectiveness of Ultrasound Guided Looped Thread Carpal Tunnel Release Completed NCT03476486 Phase 2
48 Treatment of Thoracic Outlet Syndrome (TOS) With Botox Completed NCT00444886 Phase 2 Botulinum Toxin Type A injection (BOTOX);Botulinum Toxin Type A injection (BOTOX)
49 Percutaneous Treatment of Carpal Tunnel Syndrome With Scan Completed NCT02514317 Phase 2
50 Fascial Manipulation on the Treatment of Carpal Tunnel Syndrome Completed NCT02495298 Phase 2

Search NIH Clinical Center for Neuropathy, Hereditary, with Liability to Pressure Palsies

Genetic Tests for Neuropathy, Hereditary, with Liability to Pressure Palsies

Anatomical Context for Neuropathy, Hereditary, with Liability to Pressure Palsies

MalaCards organs/tissues related to Neuropathy, Hereditary, with Liability to Pressure Palsies:

41
Brain, Spinal Cord, Testes, Skin, Heart, Liver

Publications for Neuropathy, Hereditary, with Liability to Pressure Palsies

Articles related to Neuropathy, Hereditary, with Liability to Pressure Palsies:

(show top 50) (show all 204)
# Title Authors Year
1
Different nerve ultrasound patterns in charcot-marie-tooth types and hereditary neuropathy with liability to pressure palsies. ( 28802056 )
2018
2
Spinobulbar muscular atrophy combined with atypical hereditary neuropathy with liability to pressure palsy. ( 29137918 )
2018
3
Muscle training-induced bilateral brachial plexopathy in an adolescent with sporadic hereditary neuropathy with liability to pressure palsies. ( 28948078 )
2017
4
Hereditary neuropathy with liability to pressure palsy in patients under 30 years old: Neurophysiological data and proposed electrodiagnostic criteria. ( 28407266 )
2017
5
Intravenous Immunoglobulin in Treatment of Hereditary Neuropathy With Liability to Pressure Palsy. ( 28221308 )
2017
6
Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene. ( 29078790 )
2017
7
Characterisation of pain in people with hereditary neuropathy with liability to pressure palsy. ( 29079893 )
2017
8
Acute Demyelinating Polyneuropathy as Presentation of Hereditary Neuropathy With Liability to Pressure Palsies in a Patient Who Exercised Regularly in the Army. ( 28538254 )
2017
9
Afferent Visual Pathway Affection in Patients with PMP22 Deletion-Related Hereditary Neuropathy with Liability to Pressure Palsies. ( 27749933 )
2016
10
Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion. ( 26982985 )
2016
11
Compression of Root Level in a Patient with Hereditary Neuropathy with Liability to Pressure Palsy Diagnosed by Magnetic Resonance Imaging: A Case Report. ( 27149588 )
2016
12
Hereditary neuropathy with liability to pressure palsy presenting as a bilateral brachial plexopathy. ( 26874568 )
2016
13
[Molecular genetic diagnosis and clinical features of hereditary neuropathy with liability to pressure palsies in Belarusian patients]. ( 26977628 )
2016
14
The broad clinical spectrum of hereditary neuropathy with liability to pressure palsy (HNPP). ( 26982983 )
2016
15
An n-of-one RCT for intravenous immunoglobulin G for inflammation in hereditary neuropathy with liability to pressure palsy (HNPP). ( 26187721 )
2015
16
Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience. ( 26110377 )
2015
17
Proximal arm weakness is the most common presentation in young Korean soldiers diagnosed as having hereditary neuropathy with liability to pressure palsy (HNPP). ( 26462743 )
2015
18
Ultrasonographic findings in hereditary neuropathy with liability to pressure palsies. ( 25005138 )
2014
19
Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy. ( 25326571 )
2014
20
Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation. ( 24239057 )
2014
21
Characteristic features of hereditary neuropathy with liability to pressure palsy (HNPP) presenting with brachial plexopathy in soldiers. ( 25175852 )
2014
22
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. ( 24646194 )
2014
23
Hereditary Neuropathy with Liability to Pressure Palsy Presenting as an Acute Brachial Plexopathy: A Lover's Palsy. ( 25685136 )
2014
24
Pain in hereditary neuropathy with liability to pressure palsy: An association with fibromyalgia syndrome? ( 25042093 )
2014
25
Axonal dysfunction, dysmyelination, and conduction failure in hereditary neuropathy with liability to pressure palsies. ( 24752454 )
2014
26
Does hereditary neuropathy with liability to pressure palsy predispose to schwannomatosis? ( 25324890 )
2014
27
Sonographic evaluation of the peripheral nerves in hereditary neuropathy with liability to pressure palsies: a case report. ( 24639934 )
2014
28
Overlap Phenotype between CMT1A and Hereditary Neuropathy with Liability to Pressure Palsies Caused by the Novel Small In-frame Deletion c.407_418del12 in PMP22 Gene. ( 25265422 )
2014
29
Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy. ( 24668782 )
2014
30
Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies. ( 25506001 )
2014
31
Hereditary neuropathy with liability to pressure palsy: a recurrent and bilateral foot drop case report. ( 24251057 )
2013
32
Hereditary neuropathy with liability to pressure palsy: fulminant radicular dysfunction during anterolateral lumbar interbody fusion. ( 23881104 )
2013
33
Comments on 'hereditary neuropathy with liability to pressure palsy: an investigation in a rare and large chinese family'. ( 24192759 )
2013
34
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated to hereditary neuropathy with liability to pressure palsies (HNPP) and revealed after influenza AH1N1 vaccination. ( 24146347 )
2013
35
Hereditary Neuropathy with Liability to Pressure Palsy: global neuropathy after tourniquet use. ( 24080438 )
2013
36
Bell's palsy and hereditary neuropathy with liability to pressure palsy (HNPP): is there a common genetic background? ( 23635862 )
2013
37
Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis. ( 23965407 )
2013
38
A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype. ( 22190321 )
2012
39
Sonographic and electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. ( 23279340 )
2012
40
Hereditary neuropathy with liability to pressure palsies occurring during military training. ( 22545374 )
2012
41
Hereditary neuropathy with liability to pressure palsies. Diagnosis in the first family (1947) confirmed. ( 23279343 )
2012
42
Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients. ( 25337104 )
2012
43
Two cases of elderly-onset hereditary neuropathy with liability to pressure palsy manifesting bilateral peroneal nerve palsies. ( 23185166 )
2012
44
Massive indoor cycling-induced rhabdomyolysis in a patient with hereditary neuropathy with liability to pressure palsy. ( 23240383 )
2012
45
Hereditary neuropathy with liability to pressure palsy combined with suspected schwannomas of the peroneal and radial nerves. ( 22037956 )
2012
46
Sonographic features in hereditary neuropathy with liability to pressure palsies. ( 22581553 )
2012
47
Beneficial use of steroids in hereditary neuropathy with liability to pressure palsy. ( 22098098 )
2012
48
Hereditary neuropathy with liability to pressure palsy: a brief review with a case report. ( 22023293 )
2012
49
Hereditary neuropathy with liability to pressure palsy presenting with hand drop in a young child. ( 22953141 )
2012
50
Hereditary neuropathy with liability to pressure palsy: an investigation in a rare and large Chinese family. ( 23147806 )
2012

Variations for Neuropathy, Hereditary, with Liability to Pressure Palsies

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Hereditary, with Liability to Pressure Palsies:

75
# Symbol AA change Variation ID SNP ID
1 PMP22 p.Val30Met VAR_009659 rs377335295
2 PMP22 p.Ser22Phe VAR_029960 rs104894625
3 PMP22 p.Ala67Thr VAR_029965 rs104894623

ClinVar genetic disease variations for Neuropathy, Hereditary, with Liability to Pressure Palsies:

6
(show top 50) (show all 56)
# Gene Variation Type Significance SNP ID Assembly Location
1 PMP22 PMP22, 1.1- to 1.5-MB DEL deletion Pathogenic
2 PMP22 NM_000304.3(PMP22): c.19_20delAG (p.Ser7Tyrfs) deletion Pathogenic rs587776691 GRCh37 Chromosome 17, 15164025: 15164026
3 PMP22 NM_000304.3(PMP22): c.19_20delAG (p.Ser7Tyrfs) deletion Pathogenic rs587776691 GRCh38 Chromosome 17, 15260708: 15260709
4 PMP22 NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs) duplication Pathogenic rs80338763 GRCh38 Chromosome 17, 15239509: 15239509
5 PMP22 NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs) duplication Pathogenic rs80338763 GRCh37 Chromosome 17, 15142826: 15142826
6 PMP22 NM_000304.3(PMP22): c.199G> A (p.Ala67Thr) single nucleotide variant Pathogenic rs104894623 GRCh37 Chromosome 17, 15142908: 15142908
7 PMP22 NM_000304.3(PMP22): c.199G> A (p.Ala67Thr) single nucleotide variant Pathogenic rs104894623 GRCh38 Chromosome 17, 15239591: 15239591
8 PMP22 NM_000304.3(PMP22): c.65C> T (p.Ser22Phe) single nucleotide variant Pathogenic rs104894625 GRCh37 Chromosome 17, 15163980: 15163980
9 PMP22 NM_000304.3(PMP22): c.65C> T (p.Ser22Phe) single nucleotide variant Pathogenic rs104894625 GRCh38 Chromosome 17, 15260663: 15260663
10 PMP22 NR_039884.1(MIR4731): n.(?_-9031)_(1_70)del deletion Pathogenic GRCh38 Chromosome 17, 15239612: 15260727
11 PMP22 NM_000304.3(PMP22): c.117G> A (p.Trp39Ter) single nucleotide variant Pathogenic rs797044846 GRCh37 Chromosome 17, 15162472: 15162472
12 PMP22 NM_000304.3(PMP22): c.117G> A (p.Trp39Ter) single nucleotide variant Pathogenic rs797044846 GRCh38 Chromosome 17, 15259155: 15259155
13 PMP22 NM_000304.3(PMP22): c.*243C> T single nucleotide variant Uncertain significance rs533987307 GRCh38 Chromosome 17, 15230674: 15230674
14 PMP22 NM_000304.3(PMP22): c.*243C> T single nucleotide variant Uncertain significance rs533987307 GRCh37 Chromosome 17, 15133991: 15133991
15 PMP22 NM_000304.3(PMP22): c.-34-5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375105159 GRCh38 Chromosome 17, 15260766: 15260766
16 PMP22 NM_000304.3(PMP22): c.-34-5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375105159 GRCh37 Chromosome 17, 15164083: 15164083
17 PMP22 NM_000304.3(PMP22): c.*1049C> G single nucleotide variant Uncertain significance rs750733887 GRCh38 Chromosome 17, 15229868: 15229868
18 PMP22 NM_000304.3(PMP22): c.*1049C> G single nucleotide variant Uncertain significance rs750733887 GRCh37 Chromosome 17, 15133185: 15133185
19 PMP22 NM_000304.3(PMP22): c.*542C> T single nucleotide variant Uncertain significance rs184928176 GRCh38 Chromosome 17, 15230375: 15230375
20 PMP22 NM_000304.3(PMP22): c.*542C> T single nucleotide variant Uncertain significance rs184928176 GRCh37 Chromosome 17, 15133692: 15133692
21 PMP22 NM_000304.3(PMP22): c.*115_*119delCAAAC deletion Likely benign rs112829799 GRCh38 Chromosome 17, 15230798: 15230802
22 PMP22 NM_000304.3(PMP22): c.*115_*119delCAAAC deletion Likely benign rs112829799 GRCh37 Chromosome 17, 15134115: 15134119
23 PMP22 NM_000304.3(PMP22): c.*26T> C single nucleotide variant Uncertain significance rs200563670 GRCh38 Chromosome 17, 15230891: 15230891
24 PMP22 NM_000304.3(PMP22): c.*26T> C single nucleotide variant Uncertain significance rs200563670 GRCh37 Chromosome 17, 15134208: 15134208
25 PMP22 NM_000304.3(PMP22): c.*3C> T single nucleotide variant Uncertain significance rs373690370 GRCh38 Chromosome 17, 15230914: 15230914
26 PMP22 NM_000304.3(PMP22): c.*3C> T single nucleotide variant Uncertain significance rs373690370 GRCh37 Chromosome 17, 15134231: 15134231
27 PMP22 NM_000304.3(PMP22): c.79-6C> T single nucleotide variant Benign/Likely benign rs201682989 GRCh38 Chromosome 17, 15259199: 15259199
28 PMP22 NM_000304.3(PMP22): c.79-6C> T single nucleotide variant Benign/Likely benign rs201682989 GRCh37 Chromosome 17, 15162516: 15162516
29 PMP22 NM_000304.3(PMP22): c.-74A> G single nucleotide variant Likely benign rs114365663 GRCh38 Chromosome 17, 15265193: 15265193
30 PMP22 NM_000304.3(PMP22): c.-74A> G single nucleotide variant Likely benign rs114365663 GRCh37 Chromosome 17, 15168510: 15168510
31 PMP22 NM_000304.3(PMP22): c.-223C> T single nucleotide variant Uncertain significance rs549380262 GRCh38 Chromosome 17, 15265342: 15265342
32 PMP22 NM_000304.3(PMP22): c.-223C> T single nucleotide variant Uncertain significance rs549380262 GRCh37 Chromosome 17, 15168659: 15168659
33 PMP22 NM_000304.3(PMP22): c.*1120T> C single nucleotide variant Likely benign rs11654383 GRCh38 Chromosome 17, 15229797: 15229797
34 PMP22 NM_000304.3(PMP22): c.*1120T> C single nucleotide variant Likely benign rs11654383 GRCh37 Chromosome 17, 15133114: 15133114
35 PMP22 NM_000304.3(PMP22): c.*1111G> T single nucleotide variant Likely benign rs7415 GRCh38 Chromosome 17, 15229806: 15229806
36 PMP22 NM_000304.3(PMP22): c.*1111G> T single nucleotide variant Likely benign rs7415 GRCh37 Chromosome 17, 15133123: 15133123
37 PMP22 NM_000304.3(PMP22): c.*912G> A single nucleotide variant Likely benign rs149070440 GRCh38 Chromosome 17, 15230005: 15230005
38 PMP22 NM_000304.3(PMP22): c.*912G> A single nucleotide variant Likely benign rs149070440 GRCh37 Chromosome 17, 15133322: 15133322
39 PMP22 NM_000304.3(PMP22): c.*577T> C single nucleotide variant Likely benign rs7538 GRCh37 Chromosome 17, 15133657: 15133657
40 PMP22 NM_000304.3(PMP22): c.*577T> C single nucleotide variant Likely benign rs7538 GRCh38 Chromosome 17, 15230340: 15230340
41 PMP22 NM_000304.3(PMP22): c.*527_*528delCT deletion Likely benign rs71699667 GRCh38 Chromosome 17, 15230389: 15230390
42 PMP22 NM_000304.3(PMP22): c.*527_*528delCT deletion Likely benign rs71699667 GRCh37 Chromosome 17, 15133706: 15133707
43 PMP22 NM_000304.3(PMP22): c.*228G> A single nucleotide variant Likely benign rs1804193 GRCh38 Chromosome 17, 15230689: 15230689
44 PMP22 NM_000304.3(PMP22): c.*228G> A single nucleotide variant Likely benign rs1804193 GRCh37 Chromosome 17, 15134006: 15134006
45 PMP22 NM_000304.3(PMP22): c.*59A> C single nucleotide variant Benign rs13422 GRCh38 Chromosome 17, 15230858: 15230858
46 PMP22 NM_000304.3(PMP22): c.*59A> C single nucleotide variant Benign rs13422 GRCh37 Chromosome 17, 15134175: 15134175
47 PMP22 NM_000304.3(PMP22): c.*985C> T single nucleotide variant Uncertain significance rs886052610 GRCh38 Chromosome 17, 15229932: 15229932
48 PMP22 NM_000304.3(PMP22): c.*985C> T single nucleotide variant Uncertain significance rs886052610 GRCh37 Chromosome 17, 15133249: 15133249
49 PMP22 NM_000304.3(PMP22): c.*828G> A single nucleotide variant Likely benign rs13027 GRCh38 Chromosome 17, 15230089: 15230089
50 PMP22 NM_000304.3(PMP22): c.*828G> A single nucleotide variant Likely benign rs13027 GRCh37 Chromosome 17, 15133406: 15133406

Expression for Neuropathy, Hereditary, with Liability to Pressure Palsies

Search GEO for disease gene expression data for Neuropathy, Hereditary, with Liability to Pressure Palsies.

Pathways for Neuropathy, Hereditary, with Liability to Pressure Palsies

Pathways related to Neuropathy, Hereditary, with Liability to Pressure Palsies according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.81 GJB1 MPZ PMP22

GO Terms for Neuropathy, Hereditary, with Liability to Pressure Palsies

Biological processes related to Neuropathy, Hereditary, with Liability to Pressure Palsies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein targeting to mitochondrion GO:0006626 9.32 GDAP1 MFN2
2 peripheral nervous system development GO:0007422 9.26 EGR2 PMP22
3 mitochondrial fission GO:0000266 9.16 COX10 GDAP1
4 mitochondrial fusion GO:0008053 8.96 GDAP1 MFN2
5 myelination GO:0042552 8.8 EGR2 MPZ PMP22

Sources for Neuropathy, Hereditary, with Liability to Pressure Palsies

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17 ExPASy
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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