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ROULS
MCID: RSS026
MIFTS: 45

Roussy-Levy Hereditary Areflexic Dystasia (ROULS)

Categories: Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Roussy-Levy Hereditary Areflexic Dystasia

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MalaCards integrated aliases for Roussy-Levy Hereditary Areflexic Dystasia:

Name: Roussy-Levy Hereditary Areflexic Dystasia 57 75
Roussy-Levy Syndrome 57 75 37 13 55 40 73
Roussy-Lévy Syndrome 59 29 6
Charcot-Marie-Tooth Disease 53 73
Hereditary Areflexic Dystasia, Roussy-Lévy Type 59
Hereditary Motor and Sensory Neuropathy Type I 73
Roussy Levy Hereditary Areflexic Dystasia 53
Roussylevy Hereditary Areflexic Dystasia 76
Charcot-Marie-Tooth-Roussy-Levy Disease 53
Hereditary Motor Sensory Neuropathy I 53
Hereditary Areflexic Dystasia 53
Roussy Levy Syndrome 53
Roussy-Levy Disease 53
Hmsn I 53
Rouls 75

Characteristics:

Orphanet epidemiological data:

59
roussy-lévy syndrome
Age of onset: Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
usually begins in feet and legs (peroneal distribution)
upper limb involvement usually occurs later
onset in early childhood
allelic disorders with overlapping phenotypes include charcot-marie-tooth disease type 1 (cmt1b, ) and dejerine-sottas syndrome (dss, )


HPO:

32
roussy-levy hereditary areflexic dystasia:
Onset and clinical course slow progression juvenile onset
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 180800
Orphanet 59 ORPHA3115
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 74 C0205713
MedGen 42 C0205713
KEGG 37 H01155
Sources

Summaries for Roussy-Levy Hereditary Areflexic Dystasia

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NIH Rare Diseases : 53 Roussy Levy syndrome is a term used to describe a neuromuscular disorder that typically becomes apparent during early childhood. This syndrome is considered a form of Charcot-Marie-Tooth (CMT) disease. Individuals with this disorder have clinical symptoms similar to Charcot-Marie-Tooth (CMT) disease type 1, which is characterized by muscle weakness and atrophy, poor judgement of movement (sensory ataxia), absent reflexes (areflexia) of the lower legs and hands, and abnormally high arches of the feet (pes cavus or "clawfoot"). Additional features of rhythmic shaking (static tremor) in the hands and an unsteady gait (gait ataxia) are specific to Roussy Levy syndrome. This disorder is caused by issues with nerve conduction and sensory dysfunction. Roussy Levy syndrome may result from a duplication of the PMP22 gene (which is also associated with CMT1A) or a mutation in the myelin protein zero (MPZ) gene (mutations in this gene are also associated with CMT1B). Roussy Levy syndrome is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. It is controversial if Roussy Levy is a specific type of CMT, but rather specific symptoms associated with Charcot�??Marie�??Tooth disease type 1A, Charcot�??Marie�??Tooth disease type 1B or other Charcot-Marie-Tooth subtypes.

MalaCards based summary : Roussy-Levy Hereditary Areflexic Dystasia, also known as roussy-levy syndrome, is related to charcot-marie-tooth disease, axonal, type 2d and charcot-marie-tooth disease and deafness, and has symptoms including seizures, tremor and gait ataxia. An important gene associated with Roussy-Levy Hereditary Areflexic Dystasia is MPZ (Myelin Protein Zero), and among its related pathways/superpathways are Cell adhesion molecules (CAMs) and Peroxisome. The drugs Lidocaine and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include lung and liver, and related phenotypes are gait disturbance and decreased motor nerve conduction velocity

UniProtKB/Swiss-Prot : 75 Roussy-Levy syndrome: Autosomal dominant disorder that resembles Charcot-Marie-Tooth disease type 1 in that it presents with foot deformity, weakness and atrophy of distal limb muscles, especially the peronei, and absent tendon reflexes. The phenotype differs, however, in that it includes static tremor of the upper limbs and gait ataxia.

Wikipedia : 76 Roussy�??Lévy syndrome, also known as Roussy�??Lévy hereditary areflexic dystasia, is a rare genetic... more...

Description from OMIM: 180800
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Related Diseases for Roussy-Levy Hereditary Areflexic Dystasia

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Diseases related to Roussy-Levy Hereditary Areflexic Dystasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 255)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2d 34.5 MPZ PMP22
2 charcot-marie-tooth disease and deafness 34.5 MPZ PMP22
3 charcot-marie-tooth disease, demyelinating, type 1a 34.5 MPZ PMP22
4 charcot-marie-tooth disease, axonal, type 2b 34.5 MPZ PMP22
5 charcot-marie-tooth disease, demyelinating, type 1c 34.5 MPZ PMP22
6 charcot-marie-tooth disease, demyelinating, type 1d 34.4 MPZ PMP22
7 charcot-marie-tooth disease, axonal, type 2e 34.4 MPZ PMP22
8 charcot-marie-tooth disease, demyelinating, type 1f 34.4 MPZ PMP22
9 neuropathy, hereditary, with liability to pressure palsies 32.6 MPZ PMP22
10 foot drop 32.6 MPZ PMP22
11 neuropathy - hereditary 32.5 MPZ PMP22
12 congenital hypomyelination neuropathy 32.1 MPZ PMP22
13 charcot-marie-tooth hereditary neuropathy 32.1 MPZ PMP22
14 charcot-marie-tooth disease, demyelinating, type 1b 31.8 MPZ PMP22
15 charcot-marie-tooth disease, x-linked dominant, 1 31.7 MPZ PMP22
16 polyneuropathy 30.9 MPZ PMP22
17 peripheral nervous system disease 30.6 MPZ PMP22
18 neuropathy 30.3 MPZ PMP22
19 charcot-marie-tooth disease 30.3 MPZ PMP22
20 pelizaeus-merzbacher disease 30.2 MPZ PMP22
21 guillain-barre syndrome 30.2 MPZ PMP22
22 neuritis 30.2 MPZ PMP22
23 sensory peripheral neuropathy 30.1 MPZ PMP22
24 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 30.1 MPZ PMP22
25 tooth disease 30.0 MPZ PMP22
26 hypertrophic neuropathy of dejerine-sottas 29.7 MPZ PMP22
27 charcot-marie-tooth disease, type 4b1 13.1
28 charcot-marie-tooth disease, axonal, type 2k 13.1
29 charcot-marie-tooth disease, type 4h 13.1
30 charcot-marie-tooth disease, type 4a 13.1
31 charcot-marie-tooth disease, type 4b2 13.1
32 charcot-marie-tooth disease, axonal, type 2j 13.1
33 charcot-marie-tooth disease, type 4c 13.1
34 charcot-marie-tooth disease, type 4d 13.1
35 charcot-marie-tooth disease, type 4j 13.1
36 charcot-marie-tooth disease, axonal, type 2p 13.1
37 charcot-marie-tooth disease, axonal, type 2l 13.1
38 charcot-marie-tooth disease, demyelinating, type 4f 13.1
39 charcot-marie-tooth disease, axonal, type 2n 13.1
40 charcot-marie-tooth disease, axonal, type 2f 13.0
41 charcot-marie-tooth disease, type 4b3 13.0
42 charcot-marie-tooth disease, axonal, type 2b1 13.0
43 charcot-marie-tooth disease, axonal, type 2b2 13.0
44 charcot-marie-tooth disease, x-linked dominant, 6 13.0
45 charcot-marie-tooth disease, axonal, type 2a1 13.0
46 charcot-marie-tooth disease, dominant intermediate b 13.0
47 charcot-marie-tooth disease, type 4k 13.0
48 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 13.0
49 charcot-marie-tooth disease, axonal, type 2i 13.0
50 charcot-marie-tooth disease, dominant intermediate e 13.0

Graphical network of the top 20 diseases related to Roussy-Levy Hereditary Areflexic Dystasia:



Diseases related to Roussy-Levy Hereditary Areflexic Dystasia
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Symptoms & Phenotypes for Roussy-Levy Hereditary Areflexic Dystasia

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Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes cavus
foot deformities
hammer toes

Skeletal Spine:
kyphoscoliosis may be present

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
hypertrophic nerve changes
upper limb postural tremor
more
Immunology:
foot ulcerations
foot infections leading to amputation


Clinical features from OMIM:

180800

Human phenotypes related to Roussy-Levy Hereditary Areflexic Dystasia:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
2 decreased motor nerve conduction velocity 59 32 hallmark (90%) Very frequent (99-80%) HP:0003431
3 areflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001284
4 hyporeflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001265
5 distal amyotrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003693
6 decreased number of peripheral myelinated nerve fibers 59 32 hallmark (90%) Very frequent (99-80%) HP:0003380
7 hypertrophic nerve changes 59 32 hallmark (90%) Very frequent (99-80%) HP:0003382
8 abnormality of movement 59 Very frequent (99-80%)
9 gait ataxia 32 HP:0002066
10 pes cavus 32 HP:0001761
11 motor delay 32 HP:0001270
12 abnormality of the immune system 32 HP:0002715
13 kyphoscoliosis 32 HP:0002751
14 hammertoe 32 HP:0001765
15 distal muscle weakness 32 HP:0002460
16 segmental peripheral demyelination/remyelination 32 HP:0003481
17 distal sensory impairment 32 HP:0002936
18 onion bulb formation 32 HP:0003383
19 upper limb postural tremor 32 HP:0007351

UMLS symptoms related to Roussy-Levy Hereditary Areflexic Dystasia:


seizures, tremor, gait ataxia, back pain, pain, headache, syncope, chronic pain, sciatica, cerebellar ataxia, vertigo/dizziness, sleeplessness
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Drugs & Therapeutics for Roussy-Levy Hereditary Areflexic Dystasia

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Drugs for Roussy-Levy Hereditary Areflexic Dystasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 214)
# 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
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 83-43-2 6741
3
Methylprednisolone hemisuccinate Approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 2921-57-5
4
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 302-25-0
5
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 50-24-8 5755
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
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
15
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
16
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
17
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
18 tannic acid Approved Phase 4
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 glucocorticoids Phase 4,Phase 2,Phase 3,Not Applicable
27 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Not Applicable
28 Gastrointestinal Agents Phase 4,Phase 2,Phase 3,Not Applicable
29 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Not Applicable
30 Methylprednisolone acetate Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
31 Antiemetics Phase 4,Phase 2,Phase 3,Not Applicable
32 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3,Not Applicable
33 Hormone Antagonists Phase 4,Phase 2,Phase 3,Not Applicable
34 Hormones Phase 4,Phase 2,Phase 3,Not Applicable
35 Autonomic Agents Phase 4,Phase 2,Phase 3,Not Applicable
36 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Not Applicable
37 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
38 Prednisolone acetate Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
39 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
40 Analgesics, Non-Narcotic Phase 4,Phase 2,Not Applicable
41 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
42 Sodium Channel Blockers Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
43 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
44 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
45 Anesthetics, Local Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
46 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
47 Anticonvulsants Phase 4,Phase 3,Not Applicable
48 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Not Applicable
49 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
50 Psychotropic Drugs Phase 4,Phase 3,Phase 2,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 Roussy-Levy Hereditary Areflexic Dystasia

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Genetic Tests for Roussy-Levy Hereditary Areflexic Dystasia

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Genetic tests related to Roussy-Levy Hereditary Areflexic Dystasia:

# Genetic test Affiliating Genes
1 Roussy-Lévy Syndrome 29 MPZ PMP22
Sources

Anatomical Context for Roussy-Levy Hereditary Areflexic Dystasia

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MalaCards organs/tissues related to Roussy-Levy Hereditary Areflexic Dystasia:

41
Lung, Liver
Sources

Publications for Roussy-Levy Hereditary Areflexic Dystasia

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Articles related to Roussy-Levy Hereditary Areflexic Dystasia:

(show all 14)
# Title Authors Year
1
Gabrielle Lévy and the Roussy-Lévy syndrome. ( 29469679 )
2018
2
A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome. ( 18592125 )
2008
3
A case of the Roussy-Levy syndrome family. ( 11977346 )
2001
4
Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2. ( 9543325 )
1998
5
Roussy-Levy syndrome with diabetes mellitus. ( 4093411 )
1985
6
Evidence that Charcot-Marie-tooth disease with tremor coincides with the Roussy-Levy syndrome. ( 6509399 )
1984
7
An interesting case of Roussy-Levy syndrome inherited as autosomal dominant with diabetes mellitus. ( 6654813 )
1983
8
Roussy-Levy Syndrome with psychosis. ( 1182641 )
1975
9
Investigation of a family with hypertrophic neuropathy resembling Roussy-Levy syndrome. Clinical, electrophysiologic, histologic, and biochemical studies. ( 4368842 )
1974
10
Roussy-Levy hereditary areflexic dystasia. ( 5173378 )
1971
11
Quantitation of Meissner's corpuscles in hereditary neurologic disorders. Charcot-Marie-Tooth disease, Roussy-Levy syndrome, Dejerine-Sottas disease, hereditary sensory neuropathy, spinocerebellar degenerations, and hereditary spastic paraplegia. ( 5948001 )
1966
12
Roussy-Levy syndrome with functional impairment and anomalies of gastro-intestinal tract. ( 5868071 )
1965
13
A kinship with the Roussy-Levy syndrome. ( 5834704 )
1965
14
A kinship of the Roussy-Levy syndrome: a clinical and electrophysiological study. ( 5828526 )
1964
Sources

Variations for Roussy-Levy Hereditary Areflexic Dystasia

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UniProtKB/Swiss-Prot genetic disease variations for Roussy-Levy Hereditary Areflexic Dystasia:

75
# Symbol AA change Variation ID SNP ID
1 MPZ p.Asn131Lys VAR_015978 rs121913599

ClinVar genetic disease variations for Roussy-Levy Hereditary Areflexic Dystasia:

6 (show top 50) (show all 53)
# Gene Variation Type Significance SNP ID Assembly Location
1 PMP22 PMP22, 1.4-MB DUP duplication Pathogenic
2 MPZ NM_000530.7(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh37 Chromosome 1, 161276204: 161276204
3 MPZ NM_000530.7(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh38 Chromosome 1, 161306414: 161306414
4 MPZ NM_000530.7(MPZ): c.393C> A (p.Asn131Lys) single nucleotide variant Pathogenic rs121913599 GRCh37 Chromosome 1, 161276553: 161276553
5 MPZ NM_000530.7(MPZ): c.393C> A (p.Asn131Lys) single nucleotide variant Pathogenic rs121913599 GRCh38 Chromosome 1, 161306763: 161306763
6 MPZ; SDHC NM_003001.3(SDHC): c.20+11_20+12dupTG duplication Benign rs35215598 GRCh37 Chromosome 1, 161284226: 161284227
7 MPZ; SDHC NM_003001.3(SDHC): c.20+11_20+12dupTG duplication Benign rs35215598 GRCh38 Chromosome 1, 161314436: 161314437
8 MPZ NM_000530.7(MPZ): c.684C> T (p.Ser228=) single nucleotide variant Benign/Likely benign rs34307129 GRCh37 Chromosome 1, 161275729: 161275729
9 MPZ NM_000530.7(MPZ): c.684C> T (p.Ser228=) single nucleotide variant Benign/Likely benign rs34307129 GRCh38 Chromosome 1, 161305939: 161305939
10 MPZ NM_000530.7(MPZ): c.600G> A (p.Gly200=) single nucleotide variant Benign rs16832790 GRCh37 Chromosome 1, 161275943: 161275943
11 MPZ NM_000530.7(MPZ): c.600G> A (p.Gly200=) single nucleotide variant Benign rs16832790 GRCh38 Chromosome 1, 161306153: 161306153
12 MPZ NM_000530.7(MPZ): c.451C> A (p.Pro151Thr) single nucleotide variant Likely pathogenic rs754068936 GRCh38 Chromosome 1, 161306462: 161306462
13 MPZ NM_000530.7(MPZ): c.451C> A (p.Pro151Thr) single nucleotide variant Likely pathogenic rs754068936 GRCh37 Chromosome 1, 161276252: 161276252
14 MPZ NM_000530.7(MPZ): c.637G> C (p.Gly213Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs202176679 GRCh37 Chromosome 1, 161275906: 161275906
15 MPZ NM_000530.7(MPZ): c.637G> C (p.Gly213Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs202176679 GRCh38 Chromosome 1, 161306116: 161306116
16 MPZ NM_000530.7(MPZ): c.*681A> T single nucleotide variant Uncertain significance rs886045474 GRCh37 Chromosome 1, 161274985: 161274985
17 MPZ NM_000530.7(MPZ): c.*681A> T single nucleotide variant Uncertain significance rs886045474 GRCh38 Chromosome 1, 161305195: 161305195
18 MPZ NM_000530.7(MPZ): c.*568C> G single nucleotide variant Likely benign rs60731755 GRCh37 Chromosome 1, 161275098: 161275098
19 MPZ NM_000530.7(MPZ): c.*568C> G single nucleotide variant Likely benign rs60731755 GRCh38 Chromosome 1, 161305308: 161305308
20 MPZ NM_000530.7(MPZ): c.*52G> A single nucleotide variant Uncertain significance rs774701563 GRCh37 Chromosome 1, 161275614: 161275614
21 MPZ NM_000530.7(MPZ): c.*52G> A single nucleotide variant Uncertain significance rs774701563 GRCh38 Chromosome 1, 161305824: 161305824
22 MPZ NM_000530.7(MPZ): c.504G> A (p.Val168=) single nucleotide variant Likely benign rs145592910 GRCh37 Chromosome 1, 161276199: 161276199
23 MPZ NM_000530.7(MPZ): c.504G> A (p.Val168=) single nucleotide variant Likely benign rs145592910 GRCh38 Chromosome 1, 161306409: 161306409
24 MPZ NM_000530.7(MPZ): c.-49C> A single nucleotide variant Uncertain significance rs750777955 GRCh37 Chromosome 1, 161279744: 161279744
25 MPZ NM_000530.7(MPZ): c.-49C> A single nucleotide variant Uncertain significance rs750777955 GRCh38 Chromosome 1, 161309954: 161309954
26 MPZ NM_000530.7(MPZ): c.*1020G> A single nucleotide variant Uncertain significance rs886045472 GRCh37 Chromosome 1, 161274646: 161274646
27 MPZ NM_000530.7(MPZ): c.*1020G> A single nucleotide variant Uncertain significance rs886045472 GRCh38 Chromosome 1, 161304856: 161304856
28 MPZ NM_000530.7(MPZ): c.*954C> A single nucleotide variant Uncertain significance rs372340608 GRCh37 Chromosome 1, 161274712: 161274712
29 MPZ NM_000530.7(MPZ): c.*954C> A single nucleotide variant Uncertain significance rs372340608 GRCh38 Chromosome 1, 161304922: 161304922
30 MPZ NM_000530.7(MPZ): c.*858T> C single nucleotide variant Uncertain significance rs886045473 GRCh37 Chromosome 1, 161274808: 161274808
31 MPZ NM_000530.7(MPZ): c.*858T> C single nucleotide variant Uncertain significance rs886045473 GRCh38 Chromosome 1, 161305018: 161305018
32 MPZ NM_000530.7(MPZ): c.*907_*910dupGAGA duplication Benign rs149030537 GRCh37 Chromosome 1, 161274756: 161274759
33 MPZ NM_000530.7(MPZ): c.*907_*910dupGAGA duplication Benign rs149030537 GRCh38 Chromosome 1, 161304966: 161304969
34 MPZ NM_000530.7(MPZ): c.*761A> G single nucleotide variant Benign rs16832786 GRCh37 Chromosome 1, 161274905: 161274905
35 MPZ NM_000530.7(MPZ): c.*761A> G single nucleotide variant Benign rs16832786 GRCh38 Chromosome 1, 161305115: 161305115
36 MPZ NM_000530.7(MPZ): c.*743C> T single nucleotide variant Likely benign rs140992541 GRCh37 Chromosome 1, 161274923: 161274923
37 MPZ NM_000530.7(MPZ): c.*743C> T single nucleotide variant Likely benign rs140992541 GRCh38 Chromosome 1, 161305133: 161305133
38 MPZ NM_000530.7(MPZ): c.*251C> G single nucleotide variant Uncertain significance rs772995394 GRCh37 Chromosome 1, 161275415: 161275415
39 MPZ NM_000530.7(MPZ): c.*251C> G single nucleotide variant Uncertain significance rs772995394 GRCh38 Chromosome 1, 161305625: 161305625
40 MPZ NM_000530.7(MPZ): c.*195G> T single nucleotide variant Likely benign rs150182811 GRCh37 Chromosome 1, 161275471: 161275471
41 MPZ NM_000530.7(MPZ): c.*195G> T single nucleotide variant Likely benign rs150182811 GRCh38 Chromosome 1, 161305681: 161305681
42 MPZ NM_000530.7(MPZ): c.*1074A> C single nucleotide variant Uncertain significance rs886045471 GRCh37 Chromosome 1, 161274592: 161274592
43 MPZ NM_000530.7(MPZ): c.*1074A> C single nucleotide variant Uncertain significance rs886045471 GRCh38 Chromosome 1, 161304802: 161304802
44 MPZ NM_000530.7(MPZ): c.*1048A> T single nucleotide variant Likely benign rs71639057 GRCh37 Chromosome 1, 161274618: 161274618
45 MPZ NM_000530.7(MPZ): c.*1048A> T single nucleotide variant Likely benign rs71639057 GRCh38 Chromosome 1, 161304828: 161304828
46 MPZ NM_000530.7(MPZ): c.*624C> T single nucleotide variant Benign rs60821801 GRCh37 Chromosome 1, 161275042: 161275042
47 MPZ NM_000530.7(MPZ): c.*624C> T single nucleotide variant Benign rs60821801 GRCh38 Chromosome 1, 161305252: 161305252
48 MPZ NM_000530.7(MPZ): c.515T> C (p.Leu172Pro) single nucleotide variant Uncertain significance rs886045475 GRCh37 Chromosome 1, 161276188: 161276188
49 MPZ NM_000530.7(MPZ): c.515T> C (p.Leu172Pro) single nucleotide variant Uncertain significance rs886045475 GRCh38 Chromosome 1, 161306398: 161306398
50 MPZ NM_000530.7(MPZ): c.77C> T (p.Pro26Leu) single nucleotide variant Likely benign rs530923760 GRCh37 Chromosome 1, 161277205: 161277205
Sources

Expression for Roussy-Levy Hereditary Areflexic Dystasia

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Search GEO for disease gene expression data for Roussy-Levy Hereditary Areflexic Dystasia.
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Pathways for Roussy-Levy Hereditary Areflexic Dystasia

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Pathways related to Roussy-Levy Hereditary Areflexic Dystasia according to KEGG:

37
# Name Kegg Source Accession
1 Cell adhesion molecules (CAMs) hsa04514
2 Peroxisome hsa04146

Pathways related to Roussy-Levy Hereditary Areflexic Dystasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Neural Crest Differentiation 1
10.63 MPZ PMP22
Sources

GO Terms for Roussy-Levy Hereditary Areflexic Dystasia

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Biological processes related to Roussy-Levy Hereditary Areflexic Dystasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 8.96 MPZ PMP22
2 myelination GO:0042552 8.62 MPZ PMP22
Sources

Sources for Roussy-Levy Hereditary Areflexic Dystasia

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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
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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