MCID: RSS002
MIFTS: 53

Roussy-Levy Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Roussy-Levy Syndrome

MalaCards integrated aliases for Roussy-Levy Syndrome:

Name: Roussy-Levy Syndrome 54 24 71 13 52 69 56 29
Charcot-Marie-Tooth Disease 50 69
Hereditary Areflexic Dystasia, Roussy-Lévy Type 56
Hereditary Motor and Sensory Neuropathy Type I 69
Roussy Levy Hereditary Areflexic Dystasia 50
Roussy-Levy Hereditary Areflexic Dystasia 71
Charcot-Marie-Tooth-Roussy-Levy Disease 50
Hereditary Motor Sensory Neuropathy I 50
Hereditary Areflexic Dystasia 50
Roussy Levy Syndrome 50
Roussy-Levy Disease 50
Hmsn Type I 52
Hmsn I 50
Rouls 71

Characteristics:

Orphanet epidemiological data:

56
roussy-lévy syndrome
Age of onset: Childhood,Infancy;

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 180800
Orphanet 56 ORPHA3115
UMLS via Orphanet 70 C0205713
ICD10 via Orphanet 34 G60.0
MedGen 40 C0205713

Summaries for Roussy-Levy Syndrome

NIH Rare Diseases : 50 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. last updated: 2/9/2017

MalaCards based summary : Roussy-Levy Syndrome, also known as charcot-marie-tooth disease, is related to dejerine-sottas disease and hereditary motor and sensory neuropathy v, and has symptoms including hyporeflexia, areflexia and hypertrophic nerve changes. An important gene associated with Roussy-Levy Syndrome is MPZ (Myelin Protein Zero). The drugs Methylprednisolone and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include testes, skin and liver, and related phenotypes are Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation and behavior/neurological

UniProtKB/Swiss-Prot : 71 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.

Description from OMIM: 180800

Related Diseases for Roussy-Levy Syndrome

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

(show top 50) (show all 70)
id Related Disease Score Top Affiliating Genes
1 dejerine-sottas disease 29.4 GDAP1 KIF1B MPZ PMP22 SH3TC2
2 hereditary motor and sensory neuropathy v 10.9
3 charcot-marie-tooth neuropathy, x-linked dominant, 1 10.9
4 hereditary proximal myopathy with early respiratory failure 10.8 MPZ PMP22
5 conotruncal heart malformations 10.8 MPZ PMP22
6 hemiplegia alterans 10.8 MPZ PMP22
7 charcot-marie-tooth neuropathy type 4j 10.7 MPZ PMP22
8 mental retardation, x-linked, syndromic 34 10.7 MPZ PMP22
9 congestive heart failure 10.5 MPZ PMP22 SH3TC2
10 cataract 37 10.5 DNAJB2 MFN2
11 charcot-marie-tooth disease, type 2i 10.5 KIF1B MPZ
12 charcot-marie-tooth disease type 2n 10.5 GDAP1 LRSAM1
13 thrombotic thrombocytopenic purpura, familial 10.5 DNAJB2 LRSAM1
14 charcot-marie-tooth disease, type 2j 10.5 KIF1B MPZ
15 charcot-marie-tooth disease type 2g 10.5 KIF1B MFN2
16 charcot-marie-tooth neuropathy x type 1 10.4 KIF1B MFN2
17 charcot-marie-tooth disease, type 2a1 10.4 KIF1B MFN2
18 secondary hypertrophic osteoarthropathy 10.4 KIF1B PMP22
19 chromosome 16p13.2 deletion syndrome 10.4 KIF1B MPZ PMP22
20 mitochondrial dna depletion syndrome, mgme1-related 10.4 AARS MT-ATP6
21 female breast nipple and areola cancer 10.3 PMP22 SH3TC2
22 acute necrotizing encephalitis 10.3 MPZ PMP22
23 charcot-marie-tooth disease, type 1b 10.3 KIF1B MPZ PMP22
24 charcot-marie-tooth neuropathy x 10.3 GDAP1 MPZ PMP22
25 hypertrophic osteoarthropathy, primary, autosomal recessive 2 10.3 KIF1B MPZ PMP22
26 renal dysplasia, cystic 10.3 KIF1B MPZ PMP22
27 ataxia with isolated vitamin e deficiency 10.3 DNAJB2 GDAP1
28 tooth disease 10.2
29 neuropathy 10.2
30 charcot-marie-tooth disease 10.2
31 ampulla of vater mucinous adenocarcinoma 10.2 KIF1B PMP22
32 glaucoma 1, open angle, 1o 10.2 DNAJB2 GDAP1
33 mononeuropathy of the median nerve, mild 10.2 GDAP1 SH3TC2
34 infantile epileptic encephalopathy 10.1 KIF1B MFN2 MPZ PMP22
35 paraplegia 10.1
36 spasticity 10.1
37 spinocerebellar degeneration 10.1
38 tremor 10.1
39 hereditary spastic paraplegia 10.1
40 senile angioma 10.1 GDAP1 MFN2 MPZ PMP22
41 epileptic encephalopathy, early infantile, 29 10.1 AARS KIF1B TRPV4
42 charcot-marie-tooth disease, type 2b1 10.1 DNAJB2 GDAP1 LMNA
43 white piedra 10.0 GDAP1 MPZ MT-ATP6 PMP22
44 sphenoid sinus inverted papilloma 10.0 DYNC1H1 IGHMBP2 TRPV4
45 epidermolysis bullosa simplex, ogna type 10.0 LMNA MFN2
46 spongiotic dermatitis 9.9 HSPB8 MPZ PMP22 TRPV4
47 orofacial cleft 12 9.9 GDAP1 MFN2 SH3TC2 TRPV4
48 hypoxia 9.9 DNAJB2 LMNA MFN2 MPZ PMP22
49 hypospadias 1, x-linked 9.9 DNAJB2 HSPB8
50 heavy chain disease 9.9

Graphical network of the top 20 diseases related to Roussy-Levy Syndrome:



Diseases related to Roussy-Levy Syndrome

Symptoms & Phenotypes for Roussy-Levy Syndrome

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Peripheral Nervous System:
delayed motor development
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
distal sensory impairment
hyporeflexia
more
Skeletal- Spine:
kyphoscoliosis may be present

Skeletal- Feet:
foot deformities
pes cavus
hammer toes

Immunology:
foot ulcerations
foot infections leading to amputation


Clinical features from OMIM:

180800

Human phenotypes related to Roussy-Levy Syndrome:

56 32 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyporeflexia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001265
2 areflexia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001284
3 hypertrophic nerve changes 56 32 hallmark (90%) Very frequent (99-80%) HP:0003382
4 gait disturbance 56 32 hallmark (90%) Very frequent (99-80%) HP:0001288
5 distal amyotrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0003693
6 decreased motor nerve conduction velocity 56 32 hallmark (90%) Very frequent (99-80%) HP:0003431
7 decreased number of peripheral myelinated nerve fibers 56 32 hallmark (90%) Very frequent (99-80%) HP:0003380
8 distal sensory impairment 32 HP:0002936
9 kyphoscoliosis 32 HP:0002751
10 pes cavus 32 HP:0001761
11 gait ataxia 32 HP:0002066
12 motor delay 32 HP:0001270
13 distal muscle weakness 32 HP:0002460
14 onion bulb formation 32 HP:0003383
15 upper limb postural tremor 32 HP:0007351
16 abnormality of movement 56 Very frequent (99-80%)
17 abnormality of the immune system 32 HP:0002715
18 hammertoe 32 HP:0001765
19 segmental peripheral demyelination/remyelination 32 HP:0003481

UMLS symptoms related to Roussy-Levy Syndrome:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness, cerebellar ataxia, gait ataxia

GenomeRNAi Phenotypes related to Roussy-Levy Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.92 IGHMBP2 KIF1B LMNA PMP22

MGI Mouse Phenotypes related to Roussy-Levy Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 IGHMBP2 KIF1B LMNA LRSAM1 MFN2 MPZ
2 cellular MP:0005384 9.81 GDAP1 HSPB1 HSPB8 IGHMBP2 LMNA MFN2
3 cardiovascular system MP:0005385 9.8 AARS HSPB8 IGHMBP2 LMNA MFN2 SH3TC2
4 muscle MP:0005369 9.65 AARS DYNC1H1 HSPB8 IGHMBP2 KIF1B LMNA
5 nervous system MP:0003631 9.4 AARS DYNC1H1 GDAP1 IGHMBP2 KIF1B LMNA

Drugs & Therapeutics for Roussy-Levy Syndrome

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

(show top 50) (show all 200)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 83-43-2 6741
2
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-24-8 5755
3
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 137-58-6 3676
4
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
5
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
6
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
7
Acetaminophen Approved Phase 4,Phase 2 103-90-2 1983
8
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
9
Betamethasone Approved, Vet_approved Phase 4,Phase 3 378-44-9 9782
10
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 124-94-7 31307
11
Guaifenesin Approved, Vet_approved Phase 4 93-14-1 3516
12
Hydrocodone Approved, Illicit Phase 4 125-29-1 5284569
13
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
14
Benzocaine Approved Phase 4 1994-09-7, 94-09-7 2337
15
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 2 76-42-6 5284603
16
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-30-3 6037
17
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
18 tannic acid Approved, Nutraceutical Phase 4
19
gamma-Aminobutyric acid Investigational Phase 4,Phase 3 56-12-2 119
20 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1
21 Antiemetics Phase 4,Phase 2,Phase 3
22 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
23 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3
24 Autonomic Agents Phase 4,Phase 2,Phase 3
25 Gastrointestinal Agents Phase 4,Phase 2,Phase 3
26 glucocorticoids Phase 4,Phase 3,Phase 2
27 Hormone Antagonists Phase 4,Phase 3,Phase 2
28 Hormones Phase 4,Phase 3,Phase 2
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
30 Methylprednisolone acetate Phase 4,Phase 2,Phase 3
31 Methylprednisolone Hemisuccinate Phase 4,Phase 2,Phase 3
32 Neuroprotective Agents Phase 4,Phase 2,Phase 3
33 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
34 Prednisolone acetate Phase 4,Phase 2,Phase 3
35 Prednisolone hemisuccinate Phase 4,Phase 2,Phase 3
36 Prednisolone phosphate Phase 4,Phase 2,Phase 3
37 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1
38 Anesthetics, Local Phase 4,Phase 2,Phase 3,Phase 1
39 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3,Phase 1
40 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
41 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3,Phase 1
42 Sodium Channel Blockers Phase 4,Phase 2,Phase 3,Phase 1
43 Analgesics Phase 4,Phase 3,Phase 2
44 Anticonvulsants Phase 4,Phase 3
45 Antimanic Agents Phase 4,Phase 3
46 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
47 Psychotropic Drugs Phase 4,Phase 3,Phase 2
48 Tranquilizing Agents Phase 4,Phase 3,Phase 2
49 Analgesics, Non-Narcotic Phase 4,Phase 2
50 Respiratory System Agents Phase 4,Phase 3

Interventional clinical trials:

(show top 50) (show all 241)

id 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 Efficacy Study of Local Steroid Injection and Wrist Splinting for Carpal Tunnel Syndrome Completed NCT02140632 Phase 4
3 Local Steroid Injection vs Placebo in Carpal Tunnel Syndrome Completed NCT02652390 Phase 4 Methylprednisolone 80 mg;Methylprednisolone 40 mg
4 Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome Completed NCT00277563 Phase 4
5 Therapeutic Effects Analysis of Pudendal Nerve Infiltrations After 3 Months, in Patients Suffering of Pudendal Neuralgia Completed NCT00851513 Phase 4 Lidocaine;Depmedrol
6 Length of Post Operative Dressing After Carpal Tunnel Release Completed NCT01310218 Phase 4
7 Bupivacaine Versus Lidocaine Local Anesthesia Completed NCT01751347 Phase 4 Bupivacaine;Lidocaine
8 Patient Controlled Regional Analgesia Following Carpal Tunnel Release: A Double-Blind Study Using Distal Perineural Catheters Completed NCT00678314 Phase 4 Ropivacaine 0.2%;Ropivacaine 0.75%;Normal saline
9 A Study Of Lidocaine Patch 5% Alone, Gabapentin Alone, And Lidocaine Patch 5% And Gabapentin In Combination For The Relief Of Pain In Patients With Diverse Peripheral Neuropathic Pain Conditions Completed NCT00904202 Phase 4 Placebo Capsules + Placebo Patch;Placebo capsules + Lidoderm®;Gabapentin + Placebo;Gabapentin + Lidoderm®;Gabapentin 300 mg capsules 1800 mg/day + placebo patch;Gabapentin 1800 mg/day + Lidoderm patch
10 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
11 Narcotic vs. Non-narcotic Pain Study Protocol Recruiting NCT01974609 Phase 4 Narcotic;non-narcotic
12 Injection Versus Splinting in Carpal Tunnel Syndrome Active, not recruiting NCT02038452 Phase 4 Depo-Medrone
13 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%
14 Post-operative Analgesia in Elective, Soft-tissue Hand Surgery Enrolling by invitation NCT02029235 Phase 4 Acetaminophen/Hydrocodone;Acetaminophen/Ibuprofen
15 Patient Satisfaction With Pain Relief After Ambulatory Hand Surgery Terminated NCT01588158 Phase 4 Acetaminophen;Vicodin
16 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4 Triamcinolone;Lidocaine
17 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
18 Carpal Tunnel Syndrome Release Using PSU Retractor Unknown status NCT01017471 Phase 3
19 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
20 Sonographic Examination Cubital Tunnel Release Completed NCT02739945 Phase 3
21 Sonography-guided Steroid Injection for Carpal Tunnel Syndrome Completed NCT02575729 Phase 3 betamethasone
22 Gabapentin for Carpal Tunnel Syndrome Completed NCT00137735 Phase 3 Gabapentin
23 Steroid Injection Treatment of Carpal Tunnel Syndrome Completed NCT00806871 Phase 2, Phase 3 Methylprednisolone 40 mg;Methylprednisolone 80 mg;Sodium chloride
24 Preoperative Gabapentine for Carpal Tunnel Completed NCT01632215 Phase 3 Gabapentine
25 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
26 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3 PXT3003
27 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome Recruiting NCT02141035 Phase 2, Phase 3 Acetyl-l-carnitine;placebo
28 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
29 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Active, not recruiting NCT02579759 Phase 3 PXT3003 dose 1;PXT3003 dose 2;placebo
30 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Active, not recruiting NCT02604186 Phase 2, Phase 3
31 Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome Not yet recruiting NCT03184584 Phase 2, Phase 3 PBI-4050
32 Assessment of the Effectiveness of Ultrasound-guided Acupuncture in the Management of Carpal Tunnel Syndrome Not yet recruiting NCT02870673 Phase 2, Phase 3 SHINCORT;XYLOCAINE
33 Erythropoietin Spinal Cord Compression Randomized Trial Terminated NCT00220675 Phase 2, Phase 3 Erythropoietin infusion
34 NeuroPath Comparative Validation Study Plan Terminated NCT00393549 Phase 3
35 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%
36 A Study of AQUAVAN® Injection in the Presence of Pre-Medication in Patients Undergoing Minor Surgical Procedures Terminated NCT00209560 Phase 3 fospropofol disodium
37 Carpal Tunnel Syndrome and Static Magnetic Field Therapy Unknown status NCT00521495 Phase 2
38 Carpal Tunnel Syndrome Treated With 830nm Diode Laser Unknown status NCT00514462 Phase 1, Phase 2
39 Patient Outcomes With Endoscopic Versus Open Carpal Tunnel Release Unknown status NCT00880295 Phase 2
40 Minocycline to Reduce Pain After Carpal Tunnel Release Unknown status NCT02051296 Phase 2 Minocycline;placebo
41 Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease Completed NCT00541164 Phase 1, Phase 2 Coenzyme Q10
42 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
43 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2 Placebo;ascorbic acid
44 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
45 The Treatment of the Median Nerve for the Elimination of the Symptoms Associated With the Carpal Tunnel Syndrome Completed NCT00634738 Phase 1, Phase 2
46 L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1 Completed NCT01733407 Phase 1, Phase 2 L-serine;placebo
47 Comparison of Effect of Anterior Subcutaneous and Submuscular Transposition on Cubital Tunnel Syndrome Completed NCT01109901 Phase 2
48 Treatment of Thoracic Outlet Syndrome (TOS) With Botox Completed NCT00444886 Phase 2 Botulinum Toxin Type A injection (BOTOX);Botulinum Toxin Type A injection (BOTOX)
49 Fascial Manipulation on the Treatment of Carpal Tunnel Syndrome Completed NCT02495298 Phase 2
50 Alpha Lipoic Acid on Clinical and Electrophysiological Recovery in Carpal Tunnel Syndrome Undergoing Surgical Release Completed NCT02382328 Phase 2 alpha lipoic acid;Placebo

Search NIH Clinical Center for Roussy-Levy Syndrome

Genetic Tests for Roussy-Levy Syndrome

Genetic tests related to Roussy-Levy Syndrome:

id Genetic test Affiliating Genes
1 Roussy-Lévy Syndrome 29
2 Roussy-Levy Syndrome 24 MPZ PMP22

Anatomical Context for Roussy-Levy Syndrome

MalaCards organs/tissues related to Roussy-Levy Syndrome:

39
Testes, Skin, Liver, Heart, Brain, Spinal Cord

Publications for Roussy-Levy Syndrome

Articles related to Roussy-Levy Syndrome:

(show all 11)
id Title Authors Year
1
A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome. ( 18592125 )
2008
2
A case of the Roussy-Levy syndrome family. ( 11977346 )
2001
3
Roussy-Levy syndrome with diabetes mellitus. ( 4093411 )
1985
4
Evidence that Charcot-Marie-tooth disease with tremor coincides with the Roussy-Levy syndrome. ( 6509399 )
1984
5
An interesting case of Roussy-Levy syndrome inherited as autosomal dominant with diabetes mellitus. ( 6654813 )
1983
6
Roussy-Levy Syndrome with psychosis. ( 1182641 )
1975
7
Investigation of a family with hypertrophic neuropathy resembling Roussy-Levy syndrome. Clinical, electrophysiologic, histologic, and biochemical studies. ( 4368842 )
1974
8
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
9
A kinship with the Roussy-Levy syndrome. ( 5834704 )
1965
10
Roussy-Levy syndrome with functional impairment and anomalies of gastro-intestinal tract. ( 5868071 )
1965
11
A kinship of the Roussy-Levy syndrome: a clinical and electrophysiological study. ( 5828526 )
1964

Variations for Roussy-Levy Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Roussy-Levy Syndrome:

71
id Symbol AA change Variation ID SNP ID
1 MPZ p.Asn131Lys VAR_015978 rs121913599

ClinVar genetic disease variations for Roussy-Levy Syndrome:

6 (show all 40)
id Gene Variation Type Significance SNP ID Assembly Location
1 MFN2 NM_014874.3(MFN2): c.310C> T (p.Arg104Trp) single nucleotide variant Pathogenic rs119103268 GRCh37 Chromosome 1, 12052746: 12052746
2 SH3TC2 NM_024577.3(SH3TC2): c.2860C> T (p.Arg954Ter) single nucleotide variant Pathogenic rs80338933 GRCh37 Chromosome 5, 148406435: 148406435
3 HSPB8 NM_014365.2(HSPB8): c.423G> C (p.Lys141Asn) single nucleotide variant Pathogenic rs104894345 GRCh37 Chromosome 12, 119624885: 119624885
4 HSPB8 NM_014365.2(HSPB8): c.421A> G (p.Lys141Glu) single nucleotide variant Pathogenic rs104894351 GRCh37 Chromosome 12, 119624883: 119624883
5 HSPB8 NM_014365.2(HSPB8): c.423G> T (p.Lys141Asn) single nucleotide variant Pathogenic rs104894345 GRCh37 Chromosome 12, 119624885: 119624885
6 GDAP1 NM_018972.2(GDAP1): c.358C> T (p.Arg120Trp) single nucleotide variant Pathogenic rs104894078 GRCh37 Chromosome 8, 75272419: 75272419
7 KIF1B NM_015074.3(KIF1B): c.293A> T (p.Gln98Leu) single nucleotide variant Pathogenic rs121908160 GRCh37 Chromosome 1, 10318660: 10318660
8 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh37 Chromosome 12, 110236628: 110236628
9 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh37 Chromosome 12, 110238470: 110238470
10 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh37 Chromosome 12, 110236625: 110236625
11 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh37 Chromosome 12, 110238471: 110238471
12 PMP22 PMP22, 1.4-MB DUP duplication Pathogenic
13 AARS NM_001605.2(AARS): c.986G> A (p.Arg329His) single nucleotide variant Pathogenic rs267606621 GRCh37 Chromosome 16, 70302259: 70302259
14 IGHMBP2 NM_002180.2(IGHMBP2): c.1738G> A (p.Val580Ile) single nucleotide variant Pathogenic rs137852667 GRCh37 Chromosome 11, 68702872: 68702872
15 MT-ATP6 m.9185T> C single nucleotide variant Pathogenic rs199476138 GRCh37 Chromosome MT, 9185: 9185
16 MPZ NM_000530.7(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh37 Chromosome 1, 161276204: 161276204
17 MPZ NM_000530.7(MPZ): c.371C> T (p.Thr124Met) single nucleotide variant Pathogenic rs121913595 GRCh37 Chromosome 1, 161276575: 161276575
18 MPZ NM_000530.7(MPZ): c.224A> T (p.Asp75Val) single nucleotide variant Pathogenic rs121913597 GRCh37 Chromosome 1, 161277058: 161277058
19 MPZ NM_000530.7(MPZ): c.393C> A (p.Asn131Lys) single nucleotide variant Pathogenic rs121913599 GRCh37 Chromosome 1, 161276553: 161276553
20 LMNA NM_170707.3(LMNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Pathogenic rs57318642 GRCh37 Chromosome 1, 156106994: 156106994
21 LMNA NM_170707.3(LMNA): c.398G> T (p.Arg133Leu) single nucleotide variant Pathogenic rs60864230 GRCh37 Chromosome 1, 156100449: 156100449
22 LMNA NM_170707.3(LMNA): c.892C> T (p.Arg298Cys) single nucleotide variant Pathogenic rs59885338 GRCh37 Chromosome 1, 156105059: 156105059
23 LMNA NM_170707.3(LMNA): c.1411C> T (p.Arg471Cys) single nucleotide variant Pathogenic rs28928902 GRCh37 Chromosome 1, 156106742: 156106742
24 DYNC1H1 NM_001376.4(DYNC1H1): c.917A> G (p.His306Arg) single nucleotide variant Pathogenic rs387906738 GRCh37 Chromosome 14, 102446843: 102446843
25 LRSAM1 NM_138361.5(LRSAM1): c.2121_2122dupGC (p.Leu708Argfs) duplication Pathogenic rs786200930 GRCh38 Chromosome 9, 127502848: 127502849
26 LMNA NM_170707.3(LMNA): c.1908C> T (p.Ser636=) single nucleotide variant Pathogenic rs80356814 GRCh37 Chromosome 1, 156108488: 156108488
27 HSPB1 NM_001540.3(HSPB1): c.380G> T (p.Arg127Leu) single nucleotide variant Pathogenic rs587781250 GRCh38 Chromosome 7, 76303817: 76303817
28 SBF1 NM_002972.3(SBF1): c.1327G> A (p.Asp443Asn) single nucleotide variant Pathogenic/Likely pathogenic rs690016543 GRCh37 Chromosome 22, 50903435: 50903435
29 IGHMBP2 NM_002180.2(IGHMBP2): c.138T> A (p.Cys46Ter) single nucleotide variant Pathogenic rs372000714 GRCh38 Chromosome 11, 68906120: 68906120
30 IGHMBP2 NM_002180.2(IGHMBP2): c.2911_2912delAG (p.Arg971Glufs) deletion Pathogenic rs724159994 GRCh38 Chromosome 11, 68939660: 68939661
31 IGHMBP2 NM_002180.2(IGHMBP2): c.604T> G (p.Phe202Val) single nucleotide variant Pathogenic rs724159958 GRCh38 Chromosome 11, 68911496: 68911496
32 DNAJB2 NM_001039550.1(DNAJB2): c.229+1G> A single nucleotide variant Pathogenic rs730882139 GRCh37 Chromosome 2, 220146494: 220146494
33 DNAJB2 NM_001039550.1(DNAJB2): c.14A> G (p.Tyr5Cys) single nucleotide variant Pathogenic rs730882140 GRCh37 Chromosome 2, 220144569: 220144569
34 MARS NM_004990.3(MARS): c.2398C> A (p.Pro800Thr) single nucleotide variant Pathogenic rs781249411 GRCh37 Chromosome 12, 57909709: 57909709
35 LRSAM1 NM_138361.5(LRSAM1): c.1913-1G> A single nucleotide variant Pathogenic rs756880678 GRCh37 Chromosome 9, 130263288: 130263288
36 IGHMBP2 NM_002180.2(IGHMBP2): c.449+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs797044802 GRCh38 Chromosome 11, 68908338: 68908338
37 IGHMBP2 NM_002180.2(IGHMBP2): c.1591C> A (p.Pro531Thr) single nucleotide variant Pathogenic rs756985703 GRCh38 Chromosome 11, 68934517: 68934517
38 IGHMBP2 NM_002180.2(IGHMBP2): c.2784+1G> T single nucleotide variant Pathogenic rs797044803 GRCh38 Chromosome 11, 68938355: 68938355
39 AARS NM_001605.2(AARS): c.2333A> C (p.Glu778Ala) single nucleotide variant Pathogenic rs797044801 GRCh38 Chromosome 16, 70254688: 70254688
40 MPZ NM_000530.7(MPZ): c.451C> A (p.Pro151Thr) single nucleotide variant Likely pathogenic rs754068936 GRCh38 Chromosome 1, 161306462: 161306462

Expression for Roussy-Levy Syndrome

Search GEO for disease gene expression data for Roussy-Levy Syndrome.

Pathways for Roussy-Levy Syndrome

GO Terms for Roussy-Levy Syndrome

Biological processes related to Roussy-Levy Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein targeting to mitochondrion GO:0006626 9.16 GDAP1 MFN2
2 mitochondrial fusion GO:0008053 8.96 GDAP1 MFN2
3 response to unfolded protein GO:0006986 8.8 DNAJB2 HSPB1 MFN2

Molecular functions related to Roussy-Levy Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.35 AARS DYNC1H1 IGHMBP2 MARS TRPV4
2 tRNA binding GO:0000049 8.8 AARS IGHMBP2 MARS

Sources for Roussy-Levy Syndrome

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