HNPP
MCID: NRP051
MIFTS: 58

Neuropathy, Hereditary, with Liability to Pressure Palsies (HNPP)

Categories: Fetal diseases, Genetic diseases, Neuronal 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 58
Hereditary Neuropathy with Liability to Pressure Palsies 12 77 25 54 26 60 76 38 15
Tomaculous Neuropathy 58 12 54 26 60 76 56 45
Hnpp 58 12 25 54 26 60 76
Neuropathy, Recurrent, with Pressure Palsies 58 13
Hereditary Pressure Sensitive Neuropathy 25 26
Current Pressure-Sensitive Neuropathy 12 60
Heterozygous Microdeletion 17p11.2p12 12 60
Polyneuropathy, Familial Recurrent 58 54
Familial Recurrent Polyneuropathy 12 76
Tulip-Bulb Digger's Palsy 12 60
Potato-Grubbing Palsy 12 60
Hereditary Motor and Sensory Neuropathies 74
Hereditary Liability to Pressure Palsies 74
Hereditary Motor and Sensory Neuropathy 26
Familial Pressure Sensitive Neuropathy 26
Inherited Tendency to Pressure Palsies 26
Nerve Compression Syndrome 74
Entrapment Neuropathies 74
Compression Neuropathy 26
Entrapment Neuropathy 26

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
neuropathy, hereditary, with liability to pressure palsies:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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:

Disease Ontology 12 DOID:0060843
OMIM 58 162500
KEGG 38 H01296
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C0393814
Orphanet 60 ORPHA640
MedGen 43 C0393814

Summaries for Neuropathy, Hereditary, with Liability to Pressure Palsies

NIH Rare Diseases : 54 Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder that affects peripheral nerves, causing the nerves to be highly sensitive to pressure. Symptoms usually begin during adolescence or early adulthood but may develop anytime from childhood to late adulthood. Symptoms vary in severity. While some people never realize they have the disorder, others experience prolonged disability. The most common problem sites involve nerves in the wrists, elbows, and knees; however, the fingers, shoulders, hands, feet, and scalp can also be affected. Symptoms associated with HNPP occur in episodes, due to pressure on any single peripheral nerve. Symptoms may include numbness, tingling, and/or loss of muscle function (palsy), pain in the limbs (especially the hands), carpal tunnel syndrome (impairing the ability to use the fingers, hands, and wrists), and foot drop (making it hard or impossible to walk, climb stairs, or drive). Some people experience fatigue, generalized weakness, muscle cramps, pain in the muscles or bones, or lower back pain. An episode of symptoms associated with HNPP can last from several minutes to days or even months. Most people completely recover after an episode, but repeated episodes can cause permanent muscle weakness or loss of sensation. HNPP is most often caused by the loss of one copy (a deletion) of the PMP22 gene, but it may also be cause by a mutation within this gene. It is inherited in an autosomal dominant manner. The diagnosis is made based on the symptoms present, electrodiagnostic testing, and genetic testing. HNPP is thought to be underdiagnosed, and it may be misdiagnosed as another disorder such as Charcot-Marie Tooth disease. There is currently no standard medical treatment for HNPP. Management generally involves strategies to avoid or modify positions (such as leaning on the elbows) and activities that cause symptoms, and using splints or pads on the wrists or arms to avoid pressure on the nerves. An ankle-foot orthosis may be needed permanently for those with a residual foot drop. Management of pain may include over-the-counter pain medicines and/or prescription drugs used for peripheral neuropathy. Special work or school accommodations may be necessary. While the long-term outlook (prognosis) regarding quality of life depends on the frequency and severity of episodes and whether pain and disability persist, HNPP does not affect life expectancy.

MalaCards based summary : Neuropathy, Hereditary, with Liability to Pressure Palsies, also known as hereditary neuropathy with liability to pressure palsies, is related to charcot-marie-tooth disease, axonal, type 2a1 and charcot-marie-tooth disease, x-linked dominant, 1, 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 Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include testes, spinal cord and brain, and related phenotypes are decreased motor nerve conduction velocity and scoliosis

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.

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 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 243)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2a1 33.7 KIF1B MFN2
2 charcot-marie-tooth disease, x-linked dominant, 1 33.7 GJB1 MPZ PMP22
3 hereditary motor and sensory neuropathy, type iic 33.4 GDAP1 GJB1 KIF1B MFN2 MPZ
4 roussy-levy hereditary areflexic dystasia 33.3 MPZ PMP22
5 charcot-marie-tooth disease, type 4d 33.2 GDAP1 GJB1 MFN2
6 charcot-marie-tooth disease, axonal, type 2b 33.0 EGR2 GJB1 KIF1B MPZ PMP22
7 charcot-marie-tooth disease, type 4b2 32.7 GDAP1 MTMR2
8 charcot-marie-tooth disease, demyelinating, type 1c 32.5 EGR2 GJB1 KIF1B LITAF MPZ PMP22
9 charcot-marie-tooth disease type 2a 32.4 KIF1B MFN2
10 charcot-marie-tooth disease, type 4a 32.4 GDAP1 MTMR2
11 charcot-marie-tooth disease, axonal, type 2d 32.4 GJB1 KIF1B MPZ PMP22
12 charcot-marie-tooth disease, type 4b1 32.4 GDAP1 MTMR2
13 charcot-marie-tooth disease, demyelinating, type 1d 32.2 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
14 motor peripheral neuropathy 31.9 GJB1 KIF1B MFN2 MPZ MTMR2 PMP22
15 hypertrophic neuropathy of dejerine-sottas 31.7 EGR2 GDAP1 GJB1 KIF1B LITAF MPZ
16 charcot-marie-tooth disease, axonal, type 2e 31.5 EGR2 GDAP1 GJB1 KIF1B MFN2 MPZ
17 charcot-marie-tooth disease, axonal, type 2i 31.2 KIF1B MPZ
18 charcot-marie-tooth disease, axonal, type 2j 31.2 KIF1B MPZ
19 charcot-marie-tooth disease, axonal, type 2q 31.2 EGR2 MPZ
20 charcot-marie-tooth disease, demyelinating, type 1f 31.1 GJB1 MPZ PMP22
21 charcot-marie-tooth disease, axonal, type 2l 31.0 KIF1B MPZ
22 charcot-marie-tooth disease, axonal, type 2f 31.0 GJB1 KIF1B MPZ
23 foot drop 30.9 MPZ PMP22
24 charcot-marie-tooth disease, type 4b3 30.9 GDAP1 MTMR2
25 charcot-marie-tooth disease, demyelinating, type 4f 30.9 GDAP1 MTMR2
26 amyotrophic neuralgia 30.8 GJB1 KIF1B PMP22
27 brachial plexus neuropathy 30.6 KIF1B PMP22
28 charcot-marie-tooth disease, axonal, type 2k 30.5 DYNC1H1 GDAP1 KIF1B MFN2
29 pelizaeus-merzbacher disease 30.4 MPZ PMP22
30 neuropathy 30.2 EGR2 GDAP1 GJB1 MFN2 MPZ PMP22
31 chronic inflammatory demyelinating polyradiculoneuropathy 30.2 MPZ PMP22
32 polyradiculoneuropathy 30.2 MPZ PMP22
33 axonal neuropathy 29.9 GDAP1 MFN2 PMP22
34 sensory peripheral neuropathy 29.9 EGR2 GDAP1 GJB1 LITAF MFN2 MPZ
35 polyneuropathy 29.9 GDAP1 MPZ PMP22
36 charcot-marie-tooth disease and deafness 29.8 ADCY10 COX10 EGR2 GDAP1 GJB1 KIF1B
37 neuritis 29.7 MPZ PMP22
38 charcot-marie-tooth disease, demyelinating, type 1b 29.3 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
39 charcot-marie-tooth disease, demyelinating, type 1a 28.1 COX10 EGR2 GDAP1 GJB1 KIF1B MFN2
40 peripheral nervous system disease 28.0 EGR2 GDAP1 GJB1 KIF1B LITAF MFN2
41 tooth disease 27.7 DYNC1H1 EGR2 GDAP1 GJB1 KIF1B LITAF
42 charcot-marie-tooth disease 27.3 COX10 DYNC1H1 EGR2 GDAP1 GJB1 KIF1B
43 hereditary motor and sensory neuropathy v 12.9
44 hereditary motor and sensory neuropathy with acrodystrophy 12.7
45 neuropathy, hereditary motor and sensory, okinawa type 12.6
46 hereditary motor and sensory neuropathy with agenesis of the corpus callosum 12.6
47 neuropathy, hereditary motor and sensory, russe type 12.5
48 gdap1-related hereditary motor and sensory neuropathy 12.4
49 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome 12.4
50 neuropathy, hereditary motor and sensory, type via 12.4

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

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

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased motor nerve conduction velocity 60 33 hallmark (90%) Very frequent (99-80%) HP:0003431
2 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
3 paresthesia 60 33 frequent (33%) Frequent (79-30%) HP:0003401
4 respiratory insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0002093
5 cranial nerve paralysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0006824
6 pes cavus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001761
7 vocal cord paralysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001605
8 hyporeflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001265
9 peripheral neuropathy 60 33 Very frequent (99-80%) HP:0009830
10 muscle weakness 33 HP:0001324
11 abnormality of the voice 60 Occasional (29-5%)
12 segmental peripheral demyelination/remyelination 33 HP:0003481
13 motor conduction block 33 HP:0012078
14 abnormal motor neuron morphology 33 HP:0002450

Symptoms via clinical synopsis from OMIM:

58
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

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


neuralgia

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 COX10 DYNC1H1 EGR2 GDAP1 GJB1 KIF1B
2 cellular MP:0005384 10.06 ADCY10 COX10 EGR2 GDAP1 GJB1 LITAF
3 homeostasis/metabolism MP:0005376 10.02 ADCY10 COX10 EGR2 GDAP1 GJB1 KIF1B
4 growth/size/body region MP:0005378 9.97 COX10 DYNC1H1 EGR2 GJB1 KIF1B MFN2
5 mortality/aging MP:0010768 9.81 COX10 DYNC1H1 EGR2 GJB1 KIF1B MFN2
6 nervous system MP:0003631 9.7 COX10 DYNC1H1 EGR2 GDAP1 GJB1 KIF1B
7 limbs/digits/tail MP:0005371 9.65 EGR2 GDAP1 KIF1B MTMR2 PMP22
8 reproductive system MP:0005389 9.1 ADCY10 DYNC1H1 EGR2 MPZ MTMR2 PMP22

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 232)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 137-58-6 3676
2
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 302-25-0
3
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 50-24-8 5755
4
Methylprednisolone hemisuccinate Approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 2921-57-5
5
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 83-43-2 6741
6
Acetaminophen Approved Phase 4,Phase 2 103-90-2 1983
7
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 2 76-42-6 5284603
8
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
9
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 124-94-7 31307
10
Bupivacaine Approved, Investigational Phase 4,Phase 1,Not Applicable,Early Phase 1 38396-39-3, 2180-92-9 2474
11
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
12
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
13
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 175805 71273
14
Racepinephrine Approved Phase 4,Not Applicable 329-65-7 838
15
Epinephrine Approved, Vet_approved Phase 4,Not Applicable 51-43-4 5816
16
Betamethasone Approved, Vet_approved Phase 4,Phase 3 378-44-9 9782
17
Cefazolin Approved Phase 4 25953-19-9 33255 656510
18
Vancomycin Approved Phase 4 1404-90-6 14969 441141
19
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
20
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
21
Benzocaine Approved, Investigational Phase 4,Not Applicable 1994-09-7, 94-09-7 2337
22
tannic acid Approved Phase 4,Not Applicable 1401-55-4
23
Nimodipine Approved, Investigational Phase 4 66085-59-4 4497
24
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 59-30-3 6037
25
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 22737-96-8, 11103-57-4 9904001 445354
26
Prednisolone hemisuccinate Experimental Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 2920-86-7
27 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
28 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
29 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
30 Anesthetics, Local Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
31 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
32 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
33 Sodium Channel Blockers Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
34 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
35 Prednisolone acetate Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
36 Hormones Phase 4,Phase 2,Phase 3,Not Applicable
37 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Not Applicable
38 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3,Not Applicable
39 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Not Applicable
40 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Not Applicable
41 Gastrointestinal Agents Phase 4,Phase 2,Phase 3,Not Applicable
42 Antiemetics Phase 4,Phase 2,Phase 3,Not Applicable
43 glucocorticoids Phase 4,Phase 2,Phase 3,Not Applicable
44 Autonomic Agents Phase 4,Phase 2,Phase 3,Not Applicable
45 Methylprednisolone Acetate Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
46 Hormone Antagonists Phase 4,Phase 2,Phase 3,Not Applicable
47 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Antipyretics Phase 4,Phase 2
49 Antirheumatic Agents Phase 4,Phase 2
50 Cyclooxygenase Inhibitors Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 317)
# 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 Onset and Duration of Forearm Nerve Blockade Completed NCT03649763 Phase 4 Lidocaine;Bupivacaine;Lidocaine
3 Myofascial Release on Electrophysiological Measures of Pregnant Women With CTS Completed NCT03802448 Phase 4
4 Local Steroid Injection vs Placebo in Carpal Tunnel Syndrome Completed NCT02652390 Phase 4 Methylprednisolone 80 mg;Methylprednisolone 40 mg
5 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
6 Efficacy Study of Local Steroid Injection and Wrist Splinting for Carpal Tunnel Syndrome Completed NCT02140632 Phase 4
7 Bupivacaine Versus Lidocaine Local Anesthesia Completed NCT01751347 Phase 4 Bupivacaine;Lidocaine
8 Length of Post Operative Dressing After Carpal Tunnel Release Completed NCT01310218 Phase 4
9 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
10 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
11 Therapeutic Effects Analysis of Pudendal Nerve Infiltrations After 3 Months, in Patients Suffering of Pudendal Neuralgia Completed NCT00851513 Phase 4 Lidocaine;Depmedrol
12 Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome Completed NCT00277563 Phase 4
13 Exparel and Education to Avoid Opioids After Carpal Tunnel Release Recruiting NCT03867539 Phase 4
14 Preoperative Antibiotics for Carpal Tunnel Release Surgery Recruiting NCT03432858 Phase 4 Vancomycin;Cefazolin;Saline Solution
15 Narcotic vs. Non-narcotic Pain Study Protocol Recruiting NCT01974609 Phase 4 Narcotic;non-narcotic
16 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%
17 Injection Versus Splinting in Carpal Tunnel Syndrome Active, not recruiting NCT02038452 Phase 4 Depo-Medrone
18 Comparison of the Efficacy of Corticosteroid Injection and ESWT in Patients With CTS Not yet recruiting NCT03792945 Phase 4 local injection
19 Post-operative Analgesia in Elective, Soft-tissue Hand Surgery Terminated NCT02029235 Phase 4 Acetaminophen/Ibuprofen;Acetaminophen/Hydrocodone
20 Patient Satisfaction With Pain Relief After Ambulatory Hand Surgery Terminated NCT01588158 Phase 4 Acetaminophen;Vicodin
21 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4 Triamcinolone;Lidocaine
22 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
23 Assessment of the Effectiveness of Ultrasound-guided Acupuncture in the Management of Carpal Tunnel Syndrome Unknown status NCT02870673 Phase 2, Phase 3 SHINCORT;XYLOCAINE
24 Carpal Tunnel Syndrome Release Using PSU Retractor Unknown status NCT01017471 Phase 3
25 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Completed NCT02579759 Phase 3 PXT3003 dose 1;PXT3003 dose 2;placebo
26 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
27 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome Completed NCT02141035 Phase 2, Phase 3 Acetyl-l-carnitine;placebo
28 Sonographic Examination Cubital Tunnel Release Completed NCT02739945 Phase 3
29 Sonography-guided Steroid Injection for Carpal Tunnel Syndrome Completed NCT02575729 Phase 3 betamethasone
30 Preoperative Gabapentine for Carpal Tunnel Completed NCT01632215 Phase 3 Gabapentine
31 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Completed NCT02604186 Phase 2, Phase 3
32 Steroid Injection Treatment of Carpal Tunnel Syndrome Completed NCT00806871 Phase 2, Phase 3 Methylprednisolone 40 mg;Methylprednisolone 80 mg;Sodium chloride
33 Gabapentin for Carpal Tunnel Syndrome Completed NCT00137735 Phase 3 Gabapentin
34 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
35 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3 PXT3003
36 Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity Recruiting NCT03746522 Phase 3 Setmelanotide;Placebos
37 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
38 Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome Active, not recruiting NCT03184584 Phase 2, Phase 3 PBI-4050
39 Erythropoietin Spinal Cord Compression Randomized Trial Terminated NCT00220675 Phase 2, Phase 3 Erythropoietin infusion
40 NeuroPath Comparative Validation Study Plan Terminated NCT00393549 Phase 3
41 A Study of AQUAVAN® Injection in the Presence of Pre-Medication in Patients Undergoing Minor Surgical Procedures Terminated NCT00209560 Phase 3 fospropofol disodium
42 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%
43 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Unknown status NCT02967679 Phase 1, Phase 2 MD1003
44 Ibuprofen Plus Acetaminophen Versus Oxycodone Alone After Hand Surgery Unknown status NCT03111186 Phase 2 Oxycodone Hcl 5Mg;Ibuprofen 400 mg;Acetaminophen 650 mg
45 Carpal Tunnel Syndrome and Static Magnetic Field Therapy Unknown status NCT00521495 Phase 2
46 Carpal Tunnel Syndrome Treated With 830nm Diode Laser Unknown status NCT00514462 Phase 1, Phase 2
47 Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease Completed NCT00541164 Phase 1, Phase 2 Coenzyme Q10
48 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
49 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
50 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2 Placebo;ascorbic acid

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

Cochrane evidence based reviews: tomaculous neuropathy

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:

42
Testes, Spinal Cord, Brain, Bone, 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 189)
# Title Authors Year
1
Anesthetic Considerations of Hereditary Neuropathy With Liability to Pressure Palsies in an Obstetric Patient: A Case Report. ( 30985325 )
2019
2
Hereditary neuropathy with liability to pressure palsies. ( 30989370 )
2019
3
Muscle training-induced bilateral brachial plexopathy in an adolescent with sporadic hereditary neuropathy with liability to pressure palsies. ( 30779336 )
2019
4
Different nerve ultrasound patterns in charcot-marie-tooth types and hereditary neuropathy with liability to pressure palsies. ( 28802056 )
2018
5
Clinical, electrophysiological, genetic, and imaging features of six Chinese Han patients with hereditary neuropathy with liability to pressure palsies (HNPP). ( 29108667 )
2018
6
Davidenkow syndrome: A phenotypic variant of hereditary neuropathy with liability to pressure palsies. ( 28981956 )
2018
7
A dual role for Integrin α6β4 in modulating hereditary neuropathy with liability to pressure palsies. ( 29315582 )
2018
8
Hereditary neuropathy with liability to pressure palsies mimicking chronic inflammatory demyelinating polyneuropathy. ( 30017102 )
2018
9
A Life-Saving Palsy: Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) Presenting As Hand Weakness during Cardiopulmonary Resuscitation (CPR) Training ( 30547545 )
2018
10
Hereditary Neuropathy with Liability to Pressure Palsies: A Rare Condition That Presents with Common Symptoms: A Case Report. ( 30489379 )
2018
11
Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population. ( 29544507 )
2018
12
Electrodiagnostic Characterization of Hereditary Neuropathy With Liability to Pressure Palsies. ( 28221301 )
2017
13
A case report of hereditary neuropathy with liability to pressure palsies accompanied by type 2 diabetes mellitus and psoriasis. ( 28489810 )
2017
14
Muscle training-induced bilateral brachial plexopathy in an adolescent with sporadic hereditary neuropathy with liability to pressure palsies. ( 28948078 )
2017
15
Acute Demyelinating Polyneuropathy as Presentation of Hereditary Neuropathy With Liability to Pressure Palsies in a Patient Who Exercised Regularly in the Army. ( 28538254 )
2017
16
Fibular nerve palsy after hip replacement: Not only surgeon responsibility. Hereditary neuropathy with liability to pressure palsies (HNPP) a rare cause of nerve liability. ( 27084090 )
2016
17
Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update. ( 27137093 )
2016
18
Laryngeal and phrenic nerve involvement in a patient with hereditary neuropathy with liability to pressure palsies (HNPP). ( 27241821 )
2016
19
[Molecular genetic diagnosis and clinical features of hereditary neuropathy with liability to pressure palsies in Belarusian patients]. ( 26977628 )
2016
20
A Case of Apoplexy Attack-Like Neuropathy due to Hereditary Neuropathy with Liability to Pressure Palsies in a Patient Diagnosed with Chronic Cerebral Infarction. ( 27080157 )
2016
21
Low back pain with radicular symptoms as a presentation of hereditary neuropathy with liability to pressure palsies: the diagnostic challenge of an atypical presentation. ( 26773980 )
2016
22
Phenotype HNPP (Hereditary Neuropathy With Liability to Pressure Palsies) Induced by Medical Procedures. ( 26761923 )
2016
23
Hereditary Neuropathy With Liability to Pressure Palsies: A Single-Center Experience in Southern Brazil. ( 27761228 )
2016
24
Afferent Visual Pathway Affection in Patients with PMP22 Deletion-Related Hereditary Neuropathy with Liability to Pressure Palsies. ( 27749933 )
2016
25
Hereditary Neuropathy With Liability to Pressure Palsies: Diverse Phenotypes in Childhood. ( 27861220 )
2016
26
Hereditary Neuropathy with Liability to Pressure Palsies. ( 26933540 )
2015
27
Hereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and Tuberculosis. ( 26640726 )
2015
28
DTI Study of Cerebral Normal-Appearing White Matter in Hereditary Neuropathy With Liability to Pressure Palsies (HNPP). ( 26512614 )
2015
29
Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update. ( 26189194 )
2015
30
Rapid improvement of hereditary neuropathy with liability to pressure palsies following cubital tunnel release. ( 26154536 )
2015
31
Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience. ( 26110377 )
2015
32
Erratum to "Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies". ( 25834747 )
2015
33
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 )
2015
34
Ultrasonographic findings in hereditary neuropathy with liability to pressure palsies. ( 25005138 )
2015
35
Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies. ( 25506001 )
2014
36
Axonal dysfunction, dysmyelination, and conduction failure in hereditary neuropathy with liability to pressure palsies. ( 24752454 )
2014
37
Sonographic evaluation of the peripheral nerves in hereditary neuropathy with liability to pressure palsies: a case report. ( 24639934 )
2014
38
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
39
Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy. ( 25326571 )
2014
40
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. ( 24646194 )
2014
41
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated to hereditary neuropathy with liability to pressure palsies (HNPP) and revealed after influenza AH1N1 vaccination. ( 24146347 )
2013
42
A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype. ( 22190321 )
2012
43
Hereditary neuropathy with liability to pressure palsies occurring during military training. ( 22545374 )
2012
44
Sonographic features in hereditary neuropathy with liability to pressure palsies. ( 22581553 )
2012
45
Sonographic and electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. ( 23279340 )
2012
46
Hereditary neuropathy with liability to pressure palsies. Diagnosis in the first family (1947) confirmed. ( 23279343 )
2012
47
Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients. ( 25337104 )
2012
48
Sonographic features in hereditary neuropathy with liability to pressure palsies. ( 22102454 )
2011
49
Neuropathy in a human without the PMP22 gene. ( 21670407 )
2011
50
Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. ( 22131320 )
2011

Variations for Neuropathy, Hereditary, with Liability to Pressure Palsies

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

76
# 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 209)
# Gene Variation Type Significance SNP ID Assembly Location
1 PMP22 NM_000304.3(PMP22): c.478G> A (p.Glu160Lys) single nucleotide variant Uncertain significance rs1022583382 GRCh37 Chromosome 17, 15134239: 15134239
2 MALL; NPHP1 GRCh37/hg19 2q13(chr2: 110824957-110983703) copy number loss Pathogenic GRCh37 Chromosome 2, 110824957: 110983703
3 PMP22 NM_000304.3(PMP22): c.478G> A (p.Glu160Lys) single nucleotide variant Uncertain significance rs1022583382 GRCh38 Chromosome 17, 15230922: 15230922
4 PMP22 NM_000304.3(PMP22): c.-141C> G single nucleotide variant Likely benign rs560442424 GRCh37 Chromosome 17, 15168577: 15168577
5 PMP22 NM_000304.3(PMP22): c.-141C> G single nucleotide variant Likely benign rs560442424 GRCh38 Chromosome 17, 15265260: 15265260
6 PMP22 NM_000304.3(PMP22): c.*173C> T single nucleotide variant Likely benign rs117277951 GRCh37 Chromosome 17, 15134061: 15134061
7 PMP22 NM_000304.3(PMP22): c.*173C> T single nucleotide variant Likely benign rs117277951 GRCh38 Chromosome 17, 15230744: 15230744
8 PMP22 NM_000304.3(PMP22): c.*205C> A single nucleotide variant Uncertain significance rs189734097 GRCh37 Chromosome 17, 15134029: 15134029
9 PMP22 NM_000304.3(PMP22): c.*205C> A single nucleotide variant Uncertain significance rs189734097 GRCh38 Chromosome 17, 15230712: 15230712
10 PMP22 NM_000304.3(PMP22): c.*828G> A single nucleotide variant Likely benign rs13027 GRCh37 Chromosome 17, 15133406: 15133406
11 PMP22 NM_000304.3(PMP22): c.*828G> A single nucleotide variant Likely benign rs13027 GRCh38 Chromosome 17, 15230089: 15230089
12 PMP22 NM_000304.3(PMP22): c.*985C> T single nucleotide variant Uncertain significance rs886052610 GRCh37 Chromosome 17, 15133249: 15133249
13 PMP22 NM_000304.3(PMP22): c.*985C> T single nucleotide variant Uncertain significance rs886052610 GRCh38 Chromosome 17, 15229932: 15229932
14 PMP22 NM_000304.3(PMP22): c.*59A> C single nucleotide variant Benign rs13422 GRCh37 Chromosome 17, 15134175: 15134175
15 PMP22 NM_000304.3(PMP22): c.*59A> C single nucleotide variant Benign rs13422 GRCh38 Chromosome 17, 15230858: 15230858
16 PMP22 NM_000304.3(PMP22): c.*228G> A single nucleotide variant Likely benign rs1804193 GRCh37 Chromosome 17, 15134006: 15134006
17 PMP22 NM_000304.3(PMP22): c.*228G> A single nucleotide variant Likely benign rs1804193 GRCh38 Chromosome 17, 15230689: 15230689
18 PMP22 NM_000304.3(PMP22): c.*527_*528delCT deletion Likely benign rs71699667 GRCh37 Chromosome 17, 15133706: 15133707
19 PMP22 NM_000304.3(PMP22): c.*527_*528delCT deletion Likely benign rs71699667 GRCh38 Chromosome 17, 15230389: 15230390
20 PMP22 NM_000304.3(PMP22): c.*577T> C single nucleotide variant Likely benign rs7538 GRCh37 Chromosome 17, 15133657: 15133657
21 PMP22 NM_000304.3(PMP22): c.*577T> C single nucleotide variant Likely benign rs7538 GRCh38 Chromosome 17, 15230340: 15230340
22 PMP22 NM_000304.3(PMP22): c.*912G> A single nucleotide variant Likely benign rs149070440 GRCh37 Chromosome 17, 15133322: 15133322
23 PMP22 NM_000304.3(PMP22): c.*912G> A single nucleotide variant Likely benign rs149070440 GRCh38 Chromosome 17, 15230005: 15230005
24 PMP22 NM_000304.3(PMP22): c.*1111G> T single nucleotide variant Likely benign rs7415 GRCh37 Chromosome 17, 15133123: 15133123
25 PMP22 NM_000304.3(PMP22): c.*1111G> T single nucleotide variant Likely benign rs7415 GRCh38 Chromosome 17, 15229806: 15229806
26 PMP22 NM_000304.3(PMP22): c.*1120T> C single nucleotide variant Likely benign rs11654383 GRCh37 Chromosome 17, 15133114: 15133114
27 PMP22 NM_000304.3(PMP22): c.*1120T> C single nucleotide variant Likely benign rs11654383 GRCh38 Chromosome 17, 15229797: 15229797
28 PMP22 NM_000304.3(PMP22): c.-223C> T single nucleotide variant Uncertain significance rs549380262 GRCh37 Chromosome 17, 15168659: 15168659
29 PMP22 NM_000304.3(PMP22): c.-223C> T single nucleotide variant Uncertain significance rs549380262 GRCh38 Chromosome 17, 15265342: 15265342
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.-74A> G single nucleotide variant Likely benign rs114365663 GRCh38 Chromosome 17, 15265193: 15265193
32 PMP22 NM_000304.3(PMP22): c.79-6C> T single nucleotide variant Benign/Likely benign rs201682989 GRCh37 Chromosome 17, 15162516: 15162516
33 PMP22 NM_000304.3(PMP22): c.79-6C> T single nucleotide variant Benign/Likely benign rs201682989 GRCh38 Chromosome 17, 15259199: 15259199
34 PMP22 NM_000304.3(PMP22): c.*3C> T single nucleotide variant Uncertain significance rs373690370 GRCh37 Chromosome 17, 15134231: 15134231
35 PMP22 NM_000304.3(PMP22): c.*3C> T single nucleotide variant Uncertain significance rs373690370 GRCh38 Chromosome 17, 15230914: 15230914
36 PMP22 NM_000304.3(PMP22): c.*26T> C single nucleotide variant Uncertain significance rs200563670 GRCh37 Chromosome 17, 15134208: 15134208
37 PMP22 NM_000304.3(PMP22): c.*26T> C single nucleotide variant Uncertain significance rs200563670 GRCh38 Chromosome 17, 15230891: 15230891
38 PMP22 NM_000304.3(PMP22): c.*115_*119delCAAAC deletion Likely benign rs112829799 GRCh37 Chromosome 17, 15134115: 15134119
39 PMP22 NM_000304.3(PMP22): c.*115_*119delCAAAC deletion Likely benign rs112829799 GRCh38 Chromosome 17, 15230798: 15230802
40 PMP22 NM_000304.3(PMP22): c.*542C> T single nucleotide variant Uncertain significance rs184928176 GRCh37 Chromosome 17, 15133692: 15133692
41 PMP22 NM_000304.3(PMP22): c.*542C> T single nucleotide variant Uncertain significance rs184928176 GRCh38 Chromosome 17, 15230375: 15230375
42 PMP22 NM_000304.3(PMP22): c.*1049C> G single nucleotide variant Uncertain significance rs750733887 GRCh37 Chromosome 17, 15133185: 15133185
43 PMP22 NM_000304.3(PMP22): c.*1049C> G single nucleotide variant Uncertain significance rs750733887 GRCh38 Chromosome 17, 15229868: 15229868
44 PMP22 NM_000304.3(PMP22): c.-34-5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375105159 GRCh37 Chromosome 17, 15164083: 15164083
45 PMP22 NM_000304.3(PMP22): c.-34-5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375105159 GRCh38 Chromosome 17, 15260766: 15260766
46 PMP22 NM_000304.3(PMP22): c.*243C> T single nucleotide variant Uncertain significance rs533987307 GRCh37 Chromosome 17, 15133991: 15133991
47 PMP22 NM_000304.3(PMP22): c.*243C> T single nucleotide variant Uncertain significance rs533987307 GRCh38 Chromosome 17, 15230674: 15230674
48 MFN2 NM_014874.3(MFN2): c.*1539G> A single nucleotide variant Uncertain significance rs557643473 GRCh38 Chromosome 1, 12013104: 12013104
49 MFN2 NM_014874.3(MFN2): c.*1539G> A single nucleotide variant Uncertain significance rs557643473 GRCh37 Chromosome 1, 12073161: 12073161
50 MFN2 NM_014874.3(MFN2): c.*1392A> G single nucleotide variant Uncertain significance rs886045230 GRCh38 Chromosome 1, 12012957: 12012957

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

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.36 ADCY10 COX10 DYNC1H1 GDAP1 GJB1 KIF1B

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 9.37 GDAP1 MFN2
2 peripheral nervous system development GO:0007422 9.32 EGR2 PMP22
3 mitochondrial fission GO:0000266 9.26 COX10 GDAP1
4 mitochondrial fusion GO:0008053 9.16 GDAP1 MFN2
5 myelin assembly GO:0032288 8.96 MTMR2 PMP22
6 myelination GO:0042552 8.8 EGR2 MPZ PMP22

Sources for Neuropathy, Hereditary, with Liability to Pressure Palsies

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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46 MESH via Orphanet
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50 NCI
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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