HNPP
MCID: NRP051
MIFTS: 54

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 57
Hereditary Neuropathy with Liability to Pressure Palsies 12 76 24 53 25 59 75 37 15
Tomaculous Neuropathy 57 12 53 25 59 75 55 44
Hnpp 57 12 24 53 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
Polyneuropathy, Familial Recurrent 57 53
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
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
Orphanet 59 ORPHA640
UMLS via Orphanet 74 C0393814
ICD10 via Orphanet 34 G60.0
MedGen 42 C0393814
KEGG 37 H01296

Summaries for Neuropathy, Hereditary, with Liability to Pressure Palsies

NIH Rare Diseases : 53 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 hereditary motor and sensory neuropathy, type iic and charcot-marie-tooth disease, axonal, type 2a1, 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 Prednisolone and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and bone, and related phenotypes are respiratory insufficiency 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 : 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.

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.

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 224)
# Related Disease Score Top Affiliating Genes
1 hereditary motor and sensory neuropathy, type iic 33.6 MPZ MFN2 KIF1B GJB1 GDAP1
2 charcot-marie-tooth disease, axonal, type 2a1 33.5 MFN2 KIF1B
3 charcot-marie-tooth disease, x-linked dominant, 1 33.5 GJB1 MPZ PMP22
4 charcot-marie-tooth disease, type 4d 32.9 MFN2 GJB1 GDAP1
5 charcot-marie-tooth disease, demyelinating, type 1b 32.9 PMP22 MTMR2 MPZ KIF1B GJB1 EGR2
6 roussy-levy hereditary areflexic dystasia 32.8 PMP22 MPZ
7 charcot-marie-tooth disease, axonal, type 2b 32.7 PMP22 MPZ KIF1B GJB1 EGR2
8 charcot-marie-tooth disease, demyelinating, type 1c 32.6 PMP22 MPZ LITAF KIF1B GJB1 EGR2
9 charcot-marie-tooth disease, axonal, type 2d 32.3 GJB1 KIF1B MPZ PMP22
10 charcot-marie-tooth disease, demyelinating, type 1d 32.3 PMP22 MTMR2 MPZ KIF1B GJB1 EGR2
11 charcot-marie-tooth disease type 2a 32.2 MFN2 KIF1B
12 charcot-marie-tooth disease, type 4b2 32.2 MTMR2 GDAP1
13 charcot-marie-tooth disease, type 4b1 32.2 MTMR2 GDAP1
14 charcot-marie-tooth disease, type 4a 32.2 MTMR2 GDAP1
15 hypertrophic neuropathy of dejerine-sottas 32.1 PMP22 MTMR2 MPZ LITAF KIF1B GJB1
16 charcot-marie-tooth disease, demyelinating, type 1a 32.0 COX10 PMP22 MTMR2 MPZ MFN2 KIF1B
17 motor peripheral neuropathy 32.0 PMP22 MTMR2 MPZ MFN2 KIF1B GJB1
18 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 31.9 PMP22 MTMR2 MPZ MFN2 LITAF KIF1B
19 charcot-marie-tooth disease, axonal, type 2e 31.8 PMP22 MTMR2 MPZ MFN2 KIF1B GJB1
20 charcot-marie-tooth disease, axonal, type 2j 31.0 MPZ KIF1B
21 charcot-marie-tooth disease, axonal, type 2i 31.0 MPZ KIF1B
22 charcot-marie-tooth disease, axonal, type 2q 31.0 MPZ EGR2
23 charcot-marie-tooth disease, demyelinating, type 1f 31.0 GJB1 MPZ PMP22
24 charcot-marie-tooth disease, axonal, type 2l 30.9 MPZ KIF1B
25 charcot-marie-tooth disease, axonal, type 2f 30.9 GJB1 KIF1B MPZ
26 charcot-marie-tooth disease and deafness 30.9 PMP22 MTMR2 MPZ MFN2 LITAF KIF1B
27 foot drop 30.8 PMP22 MPZ
28 amyotrophic neuralgia 30.8 GJB1 KIF1B PMP22
29 charcot-marie-tooth disease, type 4b3 30.6 MTMR2 GDAP1
30 charcot-marie-tooth disease, demyelinating, type 4f 30.6 MTMR2 GDAP1
31 charcot-marie-tooth disease, axonal, type 2k 30.6 DYNC1H1 GDAP1 KIF1B MFN2
32 brachial plexus neuropathy 30.5 PMP22 KIF1B
33 neuropathy 30.5 EGR2 GDAP1 GJB1 MFN2 MPZ PMP22
34 sensory peripheral neuropathy 30.4 PMP22 MTMR2 MPZ MFN2 LITAF GJB1
35 pelizaeus-merzbacher disease 30.4 PMP22 MPZ
36 neuropathy - hereditary 30.1 PMP22 MPZ
37 chronic inflammatory demyelinating polyradiculoneuropathy 30.1 PMP22 MPZ
38 polyradiculoneuropathy 30.0 PMP22 MPZ
39 axonal neuropathy 30.0 PMP22 MFN2 GDAP1
40 polyneuropathy 29.8 PMP22 MPZ GDAP1
41 neuritis 29.8 PMP22 MPZ
42 peripheral nervous system disease 28.5 PMP22 MTMR2 MPZ MFN2 LITAF KIF1B
43 tooth disease 28.3 DYNC1H1 EGR2 GDAP1 GJB1 KIF1B LITAF
44 charcot-marie-tooth disease 28.1 DYNC1H1 EGR2 GDAP1 GJB1 KIF1B LITAF
45 hereditary motor and sensory neuropathy v 12.8
46 hereditary motor and sensory neuropathy with acrodystrophy 12.6
47 hereditary motor and sensory neuropathy with agenesis of the corpus callosum 12.5
48 neuropathy, hereditary motor and sensory, okinawa type 12.4
49 gdap1-related hereditary motor and sensory neuropathy 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

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 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
2 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
3 cranial nerve paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006824
4 peripheral neuropathy 59 32 Very frequent (99-80%) HP:0009830
5 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
6 decreased motor nerve conduction velocity 59 32 hallmark (90%) Very frequent (99-80%) HP:0003431
7 vocal cord paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001605
8 paresthesia 59 32 frequent (33%) Frequent (79-30%) HP:0003401
9 hyporeflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001265
10 muscle weakness 32 HP:0001324
11 abnormality of the voice 59 Occasional (29-5%)
12 segmental peripheral demyelination/remyelination 32 HP:0003481
13 motor conduction block 32 HP:0012078
14 abnormal motor neuron morphology 32 HP:0002450

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 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 214)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 50-24-8 5755
2
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 302-25-0
3
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 137-58-6 3676
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
Bupivacaine Approved, Investigational Phase 4,Phase 1,Not Applicable,Early Phase 1 2180-92-9, 38396-39-3 2474
7
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 124-94-7 31307
8
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
9
Acetaminophen Approved Phase 4,Phase 2 103-90-2 1983
10
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
11
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 3 56-12-2 119
12
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 175805 71273
13
Betamethasone Approved, Vet_approved Phase 4,Phase 3 378-44-9 9782
14
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
15
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
16
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
17 tannic acid Approved Phase 4
18
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
19
Vancomycin Approved Phase 4 1404-90-6 14969 441141
20
Cefazolin Approved Phase 4 25953-19-9 656510 33255
21
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 2 76-42-6 5284603
22
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-30-3 6037
23
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
24
Prednisolone hemisuccinate Experimental Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 2920-86-7
25 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
26 Gastrointestinal Agents Phase 4,Phase 2,Phase 3,Not Applicable
27 Hormone Antagonists Phase 4,Phase 2,Phase 3,Not Applicable
28 Prednisolone acetate Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
29 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3,Not Applicable
30 Autonomic Agents Phase 4,Phase 2,Phase 3,Not Applicable
31 Hormones Phase 4,Phase 2,Phase 3,Not Applicable
32 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Not Applicable
33 Antiemetics Phase 4,Phase 2,Phase 3,Not Applicable
34 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Not Applicable
35 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
36 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Not Applicable
37 glucocorticoids Phase 4,Phase 2,Phase 3,Not Applicable
38 Methylprednisolone acetate Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
39 Analgesics, Non-Narcotic Phase 4,Phase 2,Not Applicable
40 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
41 Anesthetics, Local Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
42 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
43 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
44 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
45 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
46 Sodium Channel Blockers Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
47 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Not Applicable
48 Anticonvulsants Phase 4,Phase 3,Not Applicable
49 Antimanic Agents Phase 4,Phase 3,Not Applicable
50 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 299)
# 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 Myofascial Release on Electrophysiological Measures of Pregnant Women With CTS Completed NCT03802448 Phase 4
3 Local Steroid Injection vs Placebo in Carpal Tunnel Syndrome Completed NCT02652390 Phase 4 Methylprednisolone 80 mg;Methylprednisolone 40 mg
4 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
5 Efficacy Study of Local Steroid Injection and Wrist Splinting for Carpal Tunnel Syndrome Completed NCT02140632 Phase 4
6 Bupivacaine Versus Lidocaine Local Anesthesia Completed NCT01751347 Phase 4 Bupivacaine;Lidocaine
7 Length of Post Operative Dressing After Carpal Tunnel Release Completed NCT01310218 Phase 4
8 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
9 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
10 Therapeutic Effects Analysis of Pudendal Nerve Infiltrations After 3 Months, in Patients Suffering of Pudendal Neuralgia Completed NCT00851513 Phase 4 Lidocaine;Depmedrol
11 Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome Completed NCT00277563 Phase 4
12 Onset and Duration of Forearm Nerve Blockade Recruiting NCT03649763 Phase 4 Lidocaine;Bupivacaine;Lidocaine
13 Narcotic vs. Non-narcotic Pain Study Protocol Recruiting NCT01974609 Phase 4 Narcotic;non-narcotic
14 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%
15 Injection Versus Splinting in Carpal Tunnel Syndrome Active, not recruiting NCT02038452 Phase 4 Depo-Medrone
16 Preoperative Antibiotics for Carpal Tunnel Release Surgery Not yet recruiting NCT03432858 Phase 4 Vancomycin;Cefazolin;Saline Solution
17 Comparison of the Efficacy of Corticosteroid Injection and ESWT in Patients With CTS Not yet recruiting NCT03792945 Phase 4 local injection
18 Post-operative Analgesia in Elective, Soft-tissue Hand Surgery Terminated NCT02029235 Phase 4 Acetaminophen/Ibuprofen;Acetaminophen/Hydrocodone
19 Patient Satisfaction With Pain Relief After Ambulatory Hand Surgery Terminated NCT01588158 Phase 4 Acetaminophen;Vicodin
20 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4 Triamcinolone;Lidocaine
21 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
22 Assessment of the Effectiveness of Ultrasound-guided Acupuncture in the Management of Carpal Tunnel Syndrome Unknown status NCT02870673 Phase 2, Phase 3 SHINCORT;XYLOCAINE
23 Carpal Tunnel Syndrome Release Using PSU Retractor Unknown status NCT01017471 Phase 3
24 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
25 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
26 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome Completed NCT02141035 Phase 2, Phase 3 Acetyl-l-carnitine;placebo
27 Sonographic Examination Cubital Tunnel Release Completed NCT02739945 Phase 3
28 Sonography-guided Steroid Injection for Carpal Tunnel Syndrome Completed NCT02575729 Phase 3 betamethasone
29 Preoperative Gabapentine for Carpal Tunnel Completed NCT01632215 Phase 3 Gabapentine
30 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Completed NCT02604186 Phase 2, Phase 3
31 Steroid Injection Treatment of Carpal Tunnel Syndrome Completed NCT00806871 Phase 2, Phase 3 Methylprednisolone 40 mg;Methylprednisolone 80 mg;Sodium chloride
32 Gabapentin for Carpal Tunnel Syndrome Completed NCT00137735 Phase 3 Gabapentin
33 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
34 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3 PXT3003
35 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
36 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
37 Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome Enrolling by invitation NCT03184584 Phase 2, Phase 3 PBI-4050
38 Erythropoietin Spinal Cord Compression Randomized Trial Terminated NCT00220675 Phase 2, Phase 3 Erythropoietin infusion
39 NeuroPath Comparative Validation Study Plan Terminated NCT00393549 Phase 3
40 A Study of AQUAVAN® Injection in the Presence of Pre-Medication in Patients Undergoing Minor Surgical Procedures Terminated NCT00209560 Phase 3 fospropofol disodium
41 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%
42 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Unknown status NCT02967679 Phase 1, Phase 2 MD1003
43 Carpal Tunnel Syndrome and Static Magnetic Field Therapy Unknown status NCT00521495 Phase 2
44 Carpal Tunnel Syndrome Treated With 830nm Diode Laser Unknown status NCT00514462 Phase 1, Phase 2
45 Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease Completed NCT00541164 Phase 1, Phase 2 Coenzyme Q10
46 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
47 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
48 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2 Placebo;ascorbic acid
49 The Treatment of the Median Nerve for the Elimination of the Symptoms Associated With the Carpal Tunnel Syndrome Completed NCT00634738 Phase 1, Phase 2
50 L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1 Completed NCT01733407 Phase 1, Phase 2 L-serine;placebo

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:

41
Testes, Brain, Bone, Spinal Cord, Skin

Publications for Neuropathy, Hereditary, with Liability to Pressure Palsies

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

(show top 50) (show all 178)
# Title Authors Year
1
Different nerve ultrasound patterns in charcot-marie-tooth types and hereditary neuropathy with liability to pressure palsies. ( 28802056 )
2018
2
Hereditary neuropathy with liability to pressure palsies mimicking chronic inflammatory demyelinating polyneuropathy. ( 30017102 )
2018
3
Hereditary Neuropathy with Liability to Pressure Palsies: A Rare Condition That Presents with Common Symptoms: A Case Report. ( 30489379 )
2018
4
A Life-Saving Palsy: Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) Presenting As Hand Weakness during Cardiopulmonary Resuscitation (CPR) Training ( 30547545 )
2018
5
Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population. ( 29544507 )
2018
6
Davidenkow syndrome: A phenotypic variant of hereditary neuropathy with liability to pressure palsies. ( 28981956 )
2018
7
Clinical, electrophysiological, genetic, and imaging features of six Chinese Han patients with hereditary neuropathy with liability to pressure palsies (HNPP). ( 29108667 )
2018
8
A dual role for Integrin α6β4 in modulating hereditary neuropathy with liability to pressure palsies. ( 29315582 )
2018
9
Muscle training-induced bilateral brachial plexopathy in an adolescent with sporadic hereditary neuropathy with liability to pressure palsies. ( 28948078 )
2017
10
Acute Demyelinating Polyneuropathy as Presentation of Hereditary Neuropathy With Liability to Pressure Palsies in a Patient Who Exercised Regularly in the Army. ( 28538254 )
2017
11
Electrodiagnostic Characterization of Hereditary Neuropathy With Liability to Pressure Palsies. ( 28221301 )
2017
12
A case report of hereditary neuropathy with liability to pressure palsies accompanied by type 2 diabetes mellitus and psoriasis. ( 28489810 )
2017
13
Afferent Visual Pathway Affection in Patients with PMP22 Deletion-Related Hereditary Neuropathy with Liability to Pressure Palsies. ( 27749933 )
2016
14
[Molecular genetic diagnosis and clinical features of hereditary neuropathy with liability to pressure palsies in Belarusian patients]. ( 26977628 )
2016
15
Phenotype HNPP (Hereditary Neuropathy With Liability to Pressure Palsies) Induced by Medical Procedures. ( 26761923 )
2016
16
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
17
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
18
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
19
Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update. ( 27137093 )
2016
20
Laryngeal and phrenic nerve involvement in a patient with hereditary neuropathy with liability to pressure palsies (HNPP). ( 27241821 )
2016
21
Hereditary Neuropathy With Liability to Pressure Palsies: A Single-Center Experience in Southern Brazil. ( 27761228 )
2016
22
Hereditary Neuropathy With Liability to Pressure Palsies: Diverse Phenotypes in Childhood. ( 27861220 )
2016
23
Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience. ( 26110377 )
2015
24
Erratum to "Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies". ( 25834747 )
2015
25
Rapid improvement of hereditary neuropathy with liability to pressure palsies following cubital tunnel release. ( 26154536 )
2015
26
Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update. ( 26189194 )
2015
27
DTI Study of Cerebral Normal-Appearing White Matter in Hereditary Neuropathy With Liability to Pressure Palsies (HNPP). ( 26512614 )
2015
28
Hereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and Tuberculosis. ( 26640726 )
2015
29
Hereditary Neuropathy with Liability to Pressure Palsies. ( 26933540 )
2015
30
Ultrasonographic findings in hereditary neuropathy with liability to pressure palsies. ( 25005138 )
2014
31
Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy. ( 25326571 )
2014
32
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
33
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. ( 24646194 )
2014
34
Axonal dysfunction, dysmyelination, and conduction failure in hereditary neuropathy with liability to pressure palsies. ( 24752454 )
2014
35
Sonographic evaluation of the peripheral nerves in hereditary neuropathy with liability to pressure palsies: a case report. ( 24639934 )
2014
36
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
37
Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies. ( 25506001 )
2014
38
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated to hereditary neuropathy with liability to pressure palsies (HNPP) and revealed after influenza AH1N1 vaccination. ( 24146347 )
2013
39
A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype. ( 22190321 )
2012
40
Sonographic and electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. ( 23279340 )
2012
41
Hereditary neuropathy with liability to pressure palsies occurring during military training. ( 22545374 )
2012
42
Hereditary neuropathy with liability to pressure palsies. Diagnosis in the first family (1947) confirmed. ( 23279343 )
2012
43
Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients. ( 25337104 )
2012
44
Sonographic features in hereditary neuropathy with liability to pressure palsies. ( 22581553 )
2012
45
Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. ( 22131320 )
2011
46
Sonographic features in hereditary neuropathy with liability to pressure palsies. ( 22102454 )
2011
47
Rapidly progressive amyotrophic lateral sclerosis in a young patient with hereditary neuropathy with liability to pressure palsies. ( 19437170 )
2010
48
Ultrasound aids in the diagnosis of hereditary neuropathy with liability to pressure palsies. ( 18440055 )
2009
49
Hereditary neuropathy with liability to pressure palsies and amyotrophic lateral sclerosis. ( 19238316 )
2009
50
Screening of the 17p11.2--p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP). ( 19638685 )
2009

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 202)
# Gene Variation Type Significance SNP ID Assembly Location
1 MFN2 NM_014874.3(MFN2): c.1403G> A (p.Arg468His) single nucleotide variant Conflicting interpretations of pathogenicity rs138382758 GRCh37 Chromosome 1, 12064892: 12064892
2 MFN2 NM_014874.3(MFN2): c.1403G> A (p.Arg468His) single nucleotide variant Conflicting interpretations of pathogenicity rs138382758 GRCh38 Chromosome 1, 12004835: 12004835
3 PMP22 PMP22, 1.1- to 1.5-MB DEL deletion Pathogenic
4 PMP22 NM_000304.3(PMP22): c.353C> T (p.Thr118Met) single nucleotide variant Conflicting interpretations of pathogenicity rs104894619 GRCh37 Chromosome 17, 15134364: 15134364
5 PMP22 NM_000304.3(PMP22): c.353C> T (p.Thr118Met) single nucleotide variant Conflicting interpretations of pathogenicity rs104894619 GRCh38 Chromosome 17, 15231047: 15231047
6 PMP22 NM_000304.3(PMP22): c.19_20delAG (p.Ser7Tyrfs) deletion Pathogenic rs587776691 GRCh37 Chromosome 17, 15164025: 15164026
7 PMP22 NM_000304.3(PMP22): c.19_20delAG (p.Ser7Tyrfs) deletion Pathogenic rs587776691 GRCh38 Chromosome 17, 15260708: 15260709
8 PMP22 NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs) duplication Pathogenic rs80338763 GRCh38 Chromosome 17, 15239509: 15239509
9 PMP22 NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs) duplication Pathogenic rs80338763 GRCh37 Chromosome 17, 15142826: 15142826
10 PMP22 NM_000304.3(PMP22): c.199G> A (p.Ala67Thr) single nucleotide variant Pathogenic rs104894623 GRCh37 Chromosome 17, 15142908: 15142908
11 PMP22 NM_000304.3(PMP22): c.199G> A (p.Ala67Thr) single nucleotide variant Pathogenic rs104894623 GRCh38 Chromosome 17, 15239591: 15239591
12 PMP22 NM_000304.3(PMP22): c.65C> T (p.Ser22Phe) single nucleotide variant Pathogenic rs104894625 GRCh37 Chromosome 17, 15163980: 15163980
13 PMP22 NM_000304.3(PMP22): c.65C> T (p.Ser22Phe) single nucleotide variant Pathogenic rs104894625 GRCh38 Chromosome 17, 15260663: 15260663
14 PMP22 NR_039884.1(MIR4731): n.(?_-9031)_(1_70)del deletion Pathogenic GRCh38 Chromosome 17, 15239612: 15260727
15 MFN2 NM_014874.3(MFN2): c.408A> T (p.Val136=) single nucleotide variant Benign/Likely benign rs78814413 GRCh37 Chromosome 1, 12056309: 12056309
16 MFN2 NM_014874.3(MFN2): c.408A> T (p.Val136=) single nucleotide variant Benign/Likely benign rs78814413 GRCh38 Chromosome 1, 11996252: 11996252
17 MFN2 NM_014874.3(MFN2): c.957C> T (p.Gly319=) single nucleotide variant Benign/Likely benign rs41278632 GRCh37 Chromosome 1, 12061598: 12061598
18 MFN2 NM_014874.3(MFN2): c.957C> T (p.Gly319=) single nucleotide variant Benign/Likely benign rs41278632 GRCh38 Chromosome 1, 12001541: 12001541
19 MFN2 NM_014874.3(MFN2): c.-149-15T> G single nucleotide variant Benign/Likely benign rs114306601 GRCh37 Chromosome 1, 12042012: 12042012
20 MFN2 NM_014874.3(MFN2): c.-149-15T> G single nucleotide variant Benign/Likely benign rs114306601 GRCh38 Chromosome 1, 11981955: 11981955
21 MFN2 NM_014874.3(MFN2): c.1569C> T (p.Ser523=) single nucleotide variant Benign/Likely benign rs1042837 GRCh37 Chromosome 1, 12065841: 12065841
22 MFN2 NM_014874.3(MFN2): c.1569C> T (p.Ser523=) single nucleotide variant Benign/Likely benign rs1042837 GRCh38 Chromosome 1, 12005784: 12005784
23 MFN2 NM_014874.3(MFN2): c.2204+15T> C single nucleotide variant Benign/Likely benign rs77262016 GRCh37 Chromosome 1, 12069798: 12069798
24 MFN2 NM_014874.3(MFN2): c.2204+15T> C single nucleotide variant Benign/Likely benign rs77262016 GRCh38 Chromosome 1, 12009741: 12009741
25 MFN2 NM_014874.3(MFN2): c.150C> A (p.Ile50=) single nucleotide variant Benign/Likely benign rs78841746 GRCh37 Chromosome 1, 12049375: 12049375
26 MFN2 NM_014874.3(MFN2): c.150C> A (p.Ile50=) single nucleotide variant Benign/Likely benign rs78841746 GRCh38 Chromosome 1, 11989318: 11989318
27 MFN2 NM_014874.3(MFN2): c.165C> T (p.Thr55=) single nucleotide variant Benign/Likely benign rs77458527 GRCh37 Chromosome 1, 12049390: 12049390
28 MFN2 NM_014874.3(MFN2): c.165C> T (p.Thr55=) single nucleotide variant Benign/Likely benign rs77458527 GRCh38 Chromosome 1, 11989333: 11989333
29 DYNC1H1 NM_001376.4(DYNC1H1): c.1792C> T (p.Arg598Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587780564 GRCh37 Chromosome 14, 102452354: 102452354
30 DYNC1H1 NM_001376.4(DYNC1H1): c.1792C> T (p.Arg598Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587780564 GRCh38 Chromosome 14, 101986017: 101986017
31 MFN2 NM_014874.3(MFN2): c.975C> T (p.Gly325=) single nucleotide variant Benign/Likely benign rs141475476 GRCh37 Chromosome 1, 12061830: 12061830
32 MFN2 NM_014874.3(MFN2): c.975C> T (p.Gly325=) single nucleotide variant Benign/Likely benign rs141475476 GRCh38 Chromosome 1, 12001773: 12001773
33 MFN2 NM_014874.3(MFN2): c.1452G> A (p.Thr484=) single nucleotide variant Benign/Likely benign rs150043585 GRCh37 Chromosome 1, 12064941: 12064941
34 MFN2 NM_014874.3(MFN2): c.1452G> A (p.Thr484=) single nucleotide variant Benign/Likely benign rs150043585 GRCh38 Chromosome 1, 12004884: 12004884
35 MFN2 NM_014874.3(MFN2): c.892G> A (p.Gly298Arg) single nucleotide variant Benign/Likely benign rs41278630 GRCh37 Chromosome 1, 12061533: 12061533
36 MFN2 NM_014874.3(MFN2): c.892G> A (p.Gly298Arg) single nucleotide variant Benign/Likely benign rs41278630 GRCh38 Chromosome 1, 12001476: 12001476
37 MFN2 NM_014874.3(MFN2): c.58C> T (p.His20Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs201715603 GRCh38 Chromosome 1, 11989226: 11989226
38 MFN2 NM_014874.3(MFN2): c.58C> T (p.His20Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs201715603 GRCh37 Chromosome 1, 12049283: 12049283
39 MFN2 NM_014874.3(MFN2): c.159C> T (p.Ser53=) single nucleotide variant Benign/Likely benign rs61733200 GRCh38 Chromosome 1, 11989327: 11989327
40 MFN2 NM_014874.3(MFN2): c.159C> T (p.Ser53=) single nucleotide variant Benign/Likely benign rs61733200 GRCh37 Chromosome 1, 12049384: 12049384
41 MFN2 NM_014874.3(MFN2): c.1806C> T (p.Ser602=) single nucleotide variant Benign/Likely benign rs201258935 GRCh38 Chromosome 1, 12006627: 12006627
42 MFN2 NM_014874.3(MFN2): c.1806C> T (p.Ser602=) single nucleotide variant Benign/Likely benign rs201258935 GRCh37 Chromosome 1, 12066684: 12066684
43 MFN2 NM_014874.3(MFN2): c.1827C> T (p.Ser609=) single nucleotide variant Conflicting interpretations of pathogenicity rs138724074 GRCh38 Chromosome 1, 12006648: 12006648
44 MFN2 NM_014874.3(MFN2): c.1827C> T (p.Ser609=) single nucleotide variant Conflicting interpretations of pathogenicity rs138724074 GRCh37 Chromosome 1, 12066705: 12066705
45 MFN2 NM_014874.3(MFN2): c.2146G> A (p.Ala716Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144860227 GRCh38 Chromosome 1, 12009668: 12009668
46 MFN2 NM_014874.3(MFN2): c.2146G> A (p.Ala716Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144860227 GRCh37 Chromosome 1, 12069725: 12069725
47 MFN2 NM_014874.3(MFN2): c.2205-13C> A single nucleotide variant Benign/Likely benign rs76020240 GRCh37 Chromosome 1, 12071540: 12071540
48 MFN2 NM_014874.3(MFN2): c.2205-13C> A single nucleotide variant Benign/Likely benign rs76020240 GRCh38 Chromosome 1, 12011483: 12011483
49 MFN2 NM_014874.3(MFN2): c.179C> T (p.Thr60Met) single nucleotide variant Uncertain significance rs138345244 GRCh38 Chromosome 1, 11992558: 11992558
50 MFN2 NM_014874.3(MFN2): c.179C> T (p.Thr60Met) single nucleotide variant Uncertain significance rs138345244 GRCh37 Chromosome 1, 12052615: 12052615

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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45 MESH via Orphanet
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49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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