MCID: HRD088
MIFTS: 40

Hereditary Neuropathies malady

Categories: Neuronal diseases, Immune diseases, Rare diseases

Aliases & Classifications for Hereditary Neuropathies

Aliases & Descriptions for Hereditary Neuropathies:

Name: Hereditary Neuropathies 51
Hereditary Neuropathy 52 69
Neuropathy - Hereditary 51

Classifications:



Summaries for Hereditary Neuropathies

NINDS : 51 Hereditary neuropathies are a group of inherited disorders affecting the peripheral nervous system. The hereditary neuropathies are divided into four major subcategories: hereditary motor and sensory neuropathy, hereditary sensory neuropathy, hereditary motor neuropathy, and hereditary sensory and autonomic neuropathy. The most common type is Charcot-Marie-Tooth disease, one of the hereditary motor and sensory neuropathies. Symptoms of the hereditary neuropathies vary according to the type and may include sensory symptoms such as numbness, tingling, and pain in the feet and hands; or motor symptoms such as weakness and loss of muscle bulk, particularly in the lower leg and feet muscles. Certain types of hereditary neuropathies can affect the autonomic nerves, resulting in impaired sweating, postural hypotension, or insensitivity to pain. Some people may have foot deformities such as high arches and hammer toes, thin calf muscles (having the appearance of an inverted champagne glass) or scoliosis (curvature of the spine). The symptoms of hereditary neuropathies may be apparent at birth or appear in middle or late life. They can vary among different family members, with some family members being more severely affected than others. The hereditary neuropathies can be diagnosed by blood tests for genetic testing, nerve conduction studies, and nerve biopsies.

MalaCards based summary : Hereditary Neuropathies, also known as hereditary neuropathy, is related to hereditary motor and sensory neuropathy via and hereditary neuropathy with liability to pressure palsy. An important gene associated with Hereditary Neuropathies is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways are Neural Crest Differentiation and Glial Cell Differentiation. The drugs Diclofenac and Metoprolol have been mentioned in the context of this disorder. Affiliated tissues include testes, and related phenotypes are Increased gamma-H2AX phosphorylation and behavior/neurological

Related Diseases for Hereditary Neuropathies

Diseases in the Neuropathy family:

Autoimmune Neuropathy Hereditary Type 1 Neuropathy
Hereditary Type 2 Neuropathy Hereditary Neuropathies

Diseases related to Hereditary Neuropathies via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 109)
id Related Disease Score Top Affiliating Genes
1 hereditary motor and sensory neuropathy via 32.4 MFN2 PMP22
2 hereditary neuropathy with liability to pressure palsy 12.1
3 neuropathy, hereditary motor and sensory, russe type 12.0
4 neuropathy, hereditary sensory, type ie 12.0
5 neuropathy, hereditary sensory and autonomic, type ii 11.9
6 neuropathy, hereditary sensory and autonomic, type vii 11.9
7 neuropathy, hereditary sensory, with spastic paraplegia 11.9
8 neuropathy, hereditary sensory and autonomic, type iib 11.9
9 neuropathy, hereditary sensory and autonomic, type vi 11.9
10 neuropathy, hereditary sensory, type if 11.9
11 neuropathy, hereditary sensory, type id 11.9
12 neuropathy, hereditary sensory and autonomic, type ic 11.9
13 neuropathy, hereditary motor and sensory, type vib 11.9
14 neuropathy, hereditary sensory and autonomic, type viii 11.9
15 neuropathy, hereditary sensory and autonomic, type v 11.9
16 neuropathy, hereditary sensory, type iic 11.9
17 neuropathy, hereditary sensory and autonomic, type ia 11.9
18 charcot-marie-tooth hereditary neuropathy 11.8
19 neuropathy, hereditary thermosensitive 11.7
20 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers 11.7
21 neuropathy, hereditary sensory, type ib 11.6
22 neuropathy, recurrent, with pressure palsies 11.6
23 hereditary motor and sensory neuropathy, okinawa type 11.5
24 macular degeneration, age-related, 3 11.3
25 charcot-marie-tooth disease 11.1
26 neuropathy 10.7
27 mononeuropathy of the median nerve, mild 10.7
28 tangier disease 10.6
29 charcot-marie-tooth neuropathy 10.6
30 hereditary type 2 neuropathy 10.3 MPZ PMP22
31 hypertonia 10.3 MPZ PMP22
32 williams-beuren syndrome 10.3 GJB1 MPZ
33 spermatogenic failure, x-linked, 2 10.3 GJB1 MPZ
34 charcot-marie-tooth disease, type 2a2 10.3 DNAJB2 MFN2
35 surfactant metabolism dysfunction, pulmonary, 2 10.2 GJB1 MPZ PMP22
36 hypertrophic osteoarthropathy, primary, autosomal recessive 2 10.2 GJB1 MPZ PMP22
37 acute sanguinous otitis media 10.2 GJB1 MPZ PMP22
38 muscular dystrophy, congenital 10.2 DNAJB2 LMNA
39 craniorachischisis 10.2 MBP MPZ PMP22
40 ovarian stromal hyperthecosis 10.2 LMNA MFN2 PMP22
41 von economo's disease 10.2 MBP MPZ PMP22
42 non-gestational choriocarcinoma 10.2 MBP MPZ PMP22
43 choreatic disease 10.2 MBP MPZ PMP22
44 gnathodiaphyseal dysplasia 10.2 MTMR2 PRX
45 neuropathy, inflammatory demyelinating 10.2 GJB1 MFN2 MPZ PMP22
46 dejerine-sottas disease 10.1 GJB1 MFN2 MPZ PMP22
47 chkb-related muscle diseases 10.1 GJB1 MFN2 MPZ PMP22
48 5-oxoprolinase deficiency 10.1 GJB1 MFN2 NDRG1
49 chrna1-related congenital myasthenic syndrome 10.1 GJB1 MPZ PMP22 PRX
50 pneumonic plague 10.1 GJB1 MPZ PMP22 PRX

Graphical network of the top 20 diseases related to Hereditary Neuropathies:



Diseases related to Hereditary Neuropathies

Symptoms & Phenotypes for Hereditary Neuropathies

GenomeRNAi Phenotypes related to Hereditary Neuropathies according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.28 RAG1 FBXW10 GJB1 LMNA MAG MBP

MGI Mouse Phenotypes related to Hereditary Neuropathies:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.15 MAG PMP22 MBP PRX MFN2 RAG1
2 cellular MP:0005384 9.97 LMNA PLP1 PMP22 MBP MFN2 MPZ
3 growth/size/body region MP:0005378 9.96 LMNA PLP1 PMP22 MBP PRX MFN2
4 nervous system MP:0003631 9.73 MAG PMP22 MBP PRX MFN2 RAG1
5 hearing/vestibular/ear MP:0005377 9.63 PLP1 MAG PMP22 MBP RAG1 LMNA
6 vision/eye MP:0005391 9.17 LMNA PLP1 PMP22 MBP RAG1 GJB1

Drugs & Therapeutics for Hereditary Neuropathies

Drugs for Hereditary Neuropathies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 194)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
2
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
3
Propranolol Approved, Investigational Phase 4 525-66-6 4946
4
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
5 Idebenone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 58186-27-9
6
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
7
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-24-8 5755
8
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 83-43-2 6741
9
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-30-3 6037
10 Analgesics Phase 4,Phase 3,Phase 2
11 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1
12 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
13 Immunosuppressive Agents Phase 4,Phase 2,Phase 3
14 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1
15 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1
16 Antirheumatic Agents Phase 4,Phase 3,Phase 2
17 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1
18 triamcinolone acetonide Phase 4
19 Adrenergic Agents Phase 4,Phase 3,Phase 2
20 Adrenergic Antagonists Phase 4
21 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
22 Sodium Channel Blockers Phase 4,Phase 2
23 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Phase 1
24 Adrenergic beta-1 Receptor Antagonists Phase 4
25 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
26 Adrenergic beta-Antagonists Phase 4
27 Sympatholytics Phase 4
28 Cyclooxygenase Inhibitors Phase 4,Phase 2
29 Thioctic Acid Phase 4,Phase 2
30 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2
31 Anesthetics Phase 4,Phase 3
32 Triamcinolone diacetate Phase 4
33 Triamcinolone hexacetonide Phase 4
34 Diuretics, Potassium Sparing Phase 4,Phase 2
35 Vasodilator Agents Phase 4
36 Vitamin B Complex Phase 4,Phase 2,Phase 3
37 Anti-Arrhythmia Agents Phase 4,Phase 2
38 Vitamins Phase 4,Phase 2,Phase 3,Phase 1
39 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
40 Antihypertensive Agents Phase 4
41 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2
42 Autonomic Agents Phase 4,Phase 3,Phase 2
43 Prednisolone acetate Phase 4,Phase 2,Phase 3
44 glucocorticoids Phase 4,Phase 2,Phase 3
45 Hormone Antagonists Phase 4,Phase 2,Phase 3
46 Hormones Phase 4,Phase 2,Phase 3
47 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3
48 Prednisolone hemisuccinate Phase 4,Phase 2,Phase 3
49 Prednisolone phosphate Phase 4,Phase 2,Phase 3
50 Antiemetics Phase 4,Phase 2,Phase 3

Interventional clinical trials:

(show top 50) (show all 128)
id Name Status NCT ID Phase
1 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Completed NCT01997489 Phase 4
2 Postoperative Alpha Lipoic Acid in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
3 Adjuvant Treatment of Graves´ Ophthalmopathy With NSAID (aGO Study) Completed NCT01458600 Phase 4
4 Study to Assess the Efficacy and Safety of Raxone in LHON Patients Recruiting NCT02774005 Phase 4
5 Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye Disease Not yet recruiting NCT02339142 Phase 4
6 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4
7 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
8 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3
9 Carbidopa for the Treatment of Nausea and Vomiting in Familial Dysautonomia Completed NCT01212484 Phase 3
10 Safety and Efficacy Study of Fx-1006A in Patients With Familial Amyloidosis Completed NCT00409175 Phase 2, Phase 3
11 ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC) Completed NCT02319005 Phase 3
12 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3
13 An Extension of Study Fx-005 Evaluating Long-Term Safety And Clinical Outcomes Of Fx-1006A In Patients With Transthyretin Amyloid Polyneuropathy Completed NCT00791492 Phase 2, Phase 3
14 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3
15 The Effects Of Bronchodilator Therapy On Respiratory And Autonomic Function In Patients With Familial Dysautonomia Completed NCT01987219 Phase 3
16 Safety and Efficacy Study of Gene Therapy for The Treatment of Leber's Hereditary Optic Neuropathy Recruiting NCT03153293 Phase 2, Phase 3
17 Total Therapy XVII for Newly Diagnosed Patients With Acute Lymphoblastic Leukemia and Lymphoma Recruiting NCT03117751 Phase 2, Phase 3
18 Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 Mutation Recruiting NCT02652767 Phase 3
19 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome Recruiting NCT02141035 Phase 2, Phase 3
20 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3
21 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3
22 APOLLO: The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis Active, not recruiting NCT01960348 Phase 3
23 Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation Active, not recruiting NCT02652780 Phase 3
24 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Active, not recruiting NCT02579759 Phase 3
25 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Active, not recruiting NCT02604186 Phase 2, Phase 3
26 Erythropoietin Spinal Cord Compression Randomized Trial Terminated NCT00220675 Phase 2, Phase 3
27 Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary Optic Neuropathy (LHON) Withdrawn NCT01495715 Phase 3
28 Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy Unknown status NCT02176733 Phase 2
29 Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A Completed NCT01401257 Phase 2
30 Study to Assess Efficacy,Safety and Tolerability of Idebenone in the Treatment of Leber's Hereditary Optic Neuropathy Completed NCT00747487 Phase 2
31 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2
32 Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding Completed NCT00389935 Phase 2
33 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2
34 The Treatment of the Median Nerve for the Elimination of the Symptoms Associated With the Carpal Tunnel Syndrome Completed NCT00634738 Phase 1, Phase 2
35 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2
36 An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease Completed NCT00071877 Phase 2
37 A Clinical Trial for AMN: Validation of Biomarkers of Oxidative Stress, Efficacy and Safety of a Mixture of Antioxidants Completed NCT01495260 Phase 2
38 Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease Completed NCT00541164 Phase 1, Phase 2
39 Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A Recruiting NCT02600286 Phase 2
40 Influence of Pronator Teres Release on Treatment of Median Nerve Compression Neuropathy Recruiting NCT01562860 Phase 2
41 Carbidopa for the Treatment of Excessive Blood Pressure Variability Recruiting NCT02553265 Phase 2
42 The Safety, Tolerability and Efficacy of Dronabinol, for the Treatment of Nausea and Vomiting in Familial Dysautonomia Recruiting NCT02608931 Phase 2
43 The Safety and Tolerability of Kinetin, in Patients With Familial Dysautonomia Recruiting NCT02274051 Phase 2
44 The KHENERGY Study Recruiting NCT02909400 Phase 2
45 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Recruiting NCT02967679 Phase 1, Phase 2
46 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
47 The Nutritional Supplement Phosphatidylserine in Patients With Familial Dysautonomia Recruiting NCT02276716 Phase 2
48 Celecoxib for Thyroid Eye Disease Recruiting NCT02845336 Phase 2
49 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Recruiting NCT03124459 Phase 2
50 Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström Syndrome Recruiting NCT02739217 Phase 2

Search NIH Clinical Center for Hereditary Neuropathies

Genetic Tests for Hereditary Neuropathies

Anatomical Context for Hereditary Neuropathies

MalaCards organs/tissues related to Hereditary Neuropathies:

39
Testes

Publications for Hereditary Neuropathies

Articles related to Hereditary Neuropathies:

(show top 50) (show all 250)
id Title Authors Year
1
Ultrasound pattern sum score, homogeneity score and regional nerve enlargement index for differentiation of demyelinating inflammatory and hereditary neuropathies. ( 27291881 )
2016
2
Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy. ( 26815532 )
2016
3
Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion. ( 26982985 )
2016
4
[Molecular genetic diagnosis and clinical features of hereditary neuropathy with liability to pressure palsies in Belarusian patients]. ( 26977628 )
2016
5
Hereditary neuropathy with liability to pressure palsy presenting as a bilateral brachial plexopathy. ( 26874568 )
2016
6
The broad clinical spectrum of hereditary neuropathy with liability to pressure palsy (HNPP). ( 26982983 )
2016
7
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
8
An n-of-one RCT for intravenous immunoglobulin G for inflammation in hereditary neuropathy with liability to pressure palsy (HNPP). ( 26187721 )
2015
9
A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia. ( 26410747 )
2015
10
The modified ultrasound pattern sum score mUPSS as additional diagnostic tool for genetically distinct hereditary neuropathies. ( 26559821 )
2015
11
Small Heat Shock Proteins and Distal Hereditary Neuropathies. ( 26878578 )
2015
12
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom. ( 25342199 )
2015
13
Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience. ( 26110377 )
2015
14
Erratum to "Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies". ( 25834747 )
2015
15
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
16
Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies. ( 25506001 )
2014
17
Hereditary Neuropathy with Liability to Pressure Palsy Presenting as an Acute Brachial Plexopathy: A Lover's Palsy. ( 25685136 )
2014
18
Sonographic evaluation of the peripheral nerves in hereditary neuropathy with liability to pressure palsies: a case report. ( 24639934 )
2014
19
Characteristic features of hereditary neuropathy with liability to pressure palsy (HNPP) presenting with brachial plexopathy in soldiers. ( 25175852 )
2014
20
Pain in hereditary neuropathy with liability to pressure palsy: An association with fibromyalgia syndrome? ( 25042093 )
2014
21
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
22
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
23
HSJ1-related hereditary neuropathies: Novel mutations and extended clinical spectrum. ( 25274842 )
2014
24
Axonal dysfunction, dysmyelination, and conduction failure in hereditary neuropathy with liability to pressure palsies. ( 24752454 )
2014
25
Ultrasonographic findings in hereditary neuropathy with liability to pressure palsies. ( 25005138 )
2014
26
Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy. ( 24668782 )
2014
27
Charcot-Marie-Tooth Disease and Related Hereditary Neuropathies: From Gene Function to Associated Phenotypes. ( 25323870 )
2014
28
Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy. ( 25326571 )
2014
29
Does hereditary neuropathy with liability to pressure palsy predispose to schwannomatosis? ( 25324890 )
2014
30
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. ( 24646194 )
2014
31
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated to hereditary neuropathy with liability to pressure palsies (HNPP) and revealed after influenza AH1N1 vaccination. ( 24146347 )
2013
32
DNA testing in hereditary neuropathies. ( 23931782 )
2013
33
Comments on 'hereditary neuropathy with liability to pressure palsy: an investigation in a rare and large chinese family'. ( 24192759 )
2013
34
Compound Charcot-Marie-Tooth disease: a kindred with severe hereditary neuropathy, pupil abnormalities and a novel MPZ mutation. ( 23197742 )
2013
35
Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis. ( 23965407 )
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: a recurrent and bilateral foot drop case report. ( 24251057 )
2013
38
De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy. ( 24174593 )
2013
39
Hereditary Neuropathy with Liability to Pressure Palsy: global neuropathy after tourniquet use. ( 24080438 )
2013
40
Hereditary neuropathy with liability to pressure palsy: fulminant radicular dysfunction during anterolateral lumbar interbody fusion. ( 23881104 )
2013
41
Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients. ( 25337104 )
2012
42
Hereditary neuropathy with liability to pressure palsy presenting with hand drop in a young child. ( 22953141 )
2012
43
Sonographic features in hereditary neuropathy with liability to pressure palsies. ( 22581553 )
2012
44
Hereditary neuropathy with liability to pressure palsy combined with suspected schwannomas of the peroneal and radial nerves. ( 22037956 )
2012
45
Massive indoor cycling-induced rhabdomyolysis in a patient with hereditary neuropathy with liability to pressure palsy. ( 23240383 )
2012
46
Two cases of elderly-onset hereditary neuropathy with liability to pressure palsy manifesting bilateral peroneal nerve palsies. ( 23185166 )
2012
47
Charcot-Marie-Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation. ( 22971232 )
2012
48
Hereditary neuropathy with liability to pressure palsy: an investigation in a rare and large Chinese family. ( 23147806 )
2012
49
Coexistence of transthyretin familial amyloid polyneuropathy and hereditary neuropathy with liability to pressure palsy. ( 22520972 )
2012
50
Hereditary neuropathy with liability to pressure palsy: a brief review with a case report. ( 22023293 )
2012

Variations for Hereditary Neuropathies

Expression for Hereditary Neuropathies

Search GEO for disease gene expression data for Hereditary Neuropathies.

Pathways for Hereditary Neuropathies

Pathways related to Hereditary Neuropathies according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.27 GJB1 MBP MPZ PMP22
2 9.7 MAG MBP PLP1

GO Terms for Hereditary Neuropathies

Cellular components related to Hereditary Neuropathies according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 microtubule cytoskeleton GO:0015630 9.33 KIF2B MFN2 NDRG1
2 myelin sheath GO:0043209 9.02 MAG MBP MPZ NDRG1 PLP1
3 compact myelin GO:0043218 8.96 MAG PMP22

Biological processes related to Hereditary Neuropathies according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.67 DNAJB2 LMNA NDRG1 PMP22
2 chemical synaptic transmission GO:0007268 9.46 MBP MPZ PLP1 PMP22
3 cell-cell adhesion via plasma-membrane adhesion molecules GO:0098742 9.32 MAG MPZ
4 central nervous system myelination GO:0022010 9.26 MAG PLP1
5 myelination GO:0042552 9.26 MBP MPZ PLP1 PMP22
6 axon ensheathment GO:0008366 8.8 MBP PLP1 PRX

Molecular functions related to Hereditary Neuropathies according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 structural constituent of myelin sheath GO:0019911 8.62 MBP PLP1

Sources for Hereditary Neuropathies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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