ROULS
MCID: RSS026
MIFTS: 47

Roussy-Levy Hereditary Areflexic Dystasia (ROULS)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Roussy-Levy Hereditary Areflexic Dystasia

MalaCards integrated aliases for Roussy-Levy Hereditary Areflexic Dystasia:

Name: Roussy-Levy Hereditary Areflexic Dystasia 57 73 72
Roussy-Levy Syndrome 57 58 72 36 13 54 70
Charcot-Marie-Tooth Disease 20 70
Roussy-Lévy Syndrome 29 6
Hereditary Areflexic Dystasia, Roussy-Levy Type 58
Hereditary Motor and Sensory Neuropathy Type I 70
Roussy Levy Hereditary Areflexic Dystasia 20
Charcot-Marie-Tooth-Roussy-Levy Disease 20
Hereditary Motor Sensory Neuropathy I 20
Hereditary Areflexic Dystasia 20
Syndrome, Roussy-Levy 39
Roussy Levy Syndrome 20
Roussy-Levy Disease 20
Hmsn I 20
Rouls 72

Characteristics:

Orphanet epidemiological data:

58
roussy-levy syndrome
Age of onset: Childhood,Infancy;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
roussy-levy hereditary areflexic dystasia:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 180800
KEGG 36 H01155
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 71 C0205713
Orphanet 58 ORPHA3115
MedGen 41 C0205713
UMLS 70 C0007959 C0205713 C0751036

Summaries for Roussy-Levy Hereditary Areflexic Dystasia

GARD : 20 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.

MalaCards based summary : Roussy-Levy Hereditary Areflexic Dystasia, also known as roussy-levy syndrome, is related to charcot-marie-tooth disease and deafness and charcot-marie-tooth disease, axonal, type 2d, and has symptoms including seizures, tremor and back pain. 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 and Peroxisome. The drugs Folic acid and Trace Elements have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skeletal muscle and brain, and related phenotypes are areflexia and decreased motor nerve conduction velocity

OMIM® : 57 Roussy-Levy syndrome is an autosomal dominant disorder characterized by early onset of prominent ataxia followed by late onset of mild motor involvement. Symptoms progress very slowly, and affected individuals may remain ambulatory throughout life (Auer-Grumbach et al., 1998; Plante-Bordeneuve et al., 1999). (180800) (Updated 05-Apr-2021)

KEGG : 36 Roussy-Levy syndrome (RLS) is a dominantly inherited early-onset syndrome consisting of gait ataxia, pes cavus, areflexia, eventually associated with muscle atrophy, postural tremors, limb ataxia, kyphoscoliosis, and sensory loss. The RLS subtype is not genetically homogeneous. RLS has been described as a phenotypic variant of Charcot-Marie-Tooth disease [DS:H00264] type 1A (CMT-1A) associated with duplications of the PMP22 gene. A mutations in the MPZ gene has been revealed indicating that the original RLS may fall under the CMT-1B subgroup of hereditary demyelinating neuropathies.

UniProtKB/Swiss-Prot : 72 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 : 73 Roussy-Lévy syndrome, also known as Roussy-Lévy hereditary areflexic dystasia, is a rare genetic... more...

Related Diseases for Roussy-Levy Hereditary Areflexic Dystasia

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

(show top 50) (show all 521)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease and deafness 33.0 PMP22 MPZ
2 charcot-marie-tooth disease, axonal, type 2d 32.9 PMP22 MPZ
3 charcot-marie-tooth disease, demyelinating, type 1d 32.9 PMP22 MPZ
4 charcot-marie-tooth disease, demyelinating, type 1c 32.9 PMP22 MPZ
5 charcot-marie-tooth disease, type 4b3 32.8 PMP22 MPZ
6 charcot-marie-tooth disease, axonal, type 2e 32.7 PMP22 MPZ
7 charcot-marie-tooth disease type x 32.3 PMP22 MPZ
8 neuropathy, hereditary, with liability to pressure palsies 32.0 PMP22 MPZ
9 foot drop 31.8 PMP22 MPZ
10 charcot-marie-tooth disease, demyelinating, type 1b 31.6 PMP22 MPZ
11 charcot-marie-tooth disease, x-linked dominant, 1 31.4 PMP22 MPZ
12 charcot-marie-tooth disease 30.5 PMP22 MPZ
13 guillain-barre syndrome 30.4 PMP22 MPZ
14 polyradiculoneuropathy 30.3 PMP22 MPZ
15 diabetic neuropathy 30.3 PMP22 MPZ
16 nerve compression syndrome 30.3 PMP22 MPZ
17 demyelinating disease 30.3 PMP22 MPZ
18 neuropathy 30.2 PMP22 MPZ
19 carpal tunnel syndrome 30.2 PMP22 MPZ
20 sensory peripheral neuropathy 30.2 PMP22 MPZ
21 amyotrophic neuralgia 30.2 PMP22 MPZ
22 neuritis 30.1 PMP22 MPZ
23 tooth disease 30.0 PMP22 MPZ
24 chronic inflammatory demyelinating polyradiculoneuropathy 29.9 PMP22 MPZ
25 hypertrophic neuropathy of dejerine-sottas 29.9 PMP22 MPZ
26 charcot-marie-tooth disease, demyelinating, type 1a 29.8 PMP22 MPZ
27 pelizaeus-merzbacher disease 29.8 PMP22 MPZ
28 hereditary neuropathies 29.6 PMP22 MPZ
29 polyneuropathy 29.5 PMP22 MPZ
30 neuropathy, congenital hypomyelinating, 1, autosomal recessive 29.4 PMP22 MPZ
31 neuromuscular disease 29.3 PMP22 MPZ
32 peripheral nervous system disease 29.2 PMP22 MPZ
33 charcot-marie-tooth disease, axonal, type 2k 12.2
34 charcot-marie-tooth disease, axonal, type 2b2 12.2
35 charcot-marie-tooth disease, axonal, type 2b1 12.2
36 charcot-marie-tooth disease, axonal, type 2f 12.1
37 charcot-marie-tooth disease, type 4b1 12.1
38 charcot-marie-tooth disease, axonal, type 2b 12.1
39 charcot-marie-tooth disease, type 4b2 12.1
40 charcot-marie-tooth disease, type 4a 12.1
41 charcot-marie-tooth disease, axonal, type 2p 12.1
42 charcot-marie-tooth disease, axonal, type 2j 12.1
43 charcot-marie-tooth disease, axonal, type 2a1 12.1
44 charcot-marie-tooth disease, type 4h 12.1
45 charcot-marie-tooth disease, dominant intermediate b 12.1
46 charcot-marie-tooth disease, type 4d 12.1
47 charcot-marie-tooth disease, type 4j 12.1
48 charcot-marie-tooth disease, axonal, type 2o 12.1
49 hereditary motor and sensory neuropathy, type iic 12.1
50 charcot-marie-tooth disease, type 4k 12.1

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



Diseases related to Roussy-Levy Hereditary Areflexic Dystasia

Symptoms & Phenotypes for Roussy-Levy Hereditary Areflexic Dystasia

Human phenotypes related to Roussy-Levy Hereditary Areflexic Dystasia:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 areflexia 58 31 hallmark (90%) Frequent (79-30%) HP:0001284
2 decreased motor nerve conduction velocity 58 31 hallmark (90%) Frequent (79-30%) HP:0003431
3 distal amyotrophy 58 31 hallmark (90%) Frequent (79-30%) HP:0003693
4 gait disturbance 31 hallmark (90%) HP:0001288
5 hyporeflexia 31 hallmark (90%) HP:0001265
6 decreased number of peripheral myelinated nerve fibers 31 hallmark (90%) HP:0003380
7 hypertrophic nerve changes 31 hallmark (90%) HP:0003382
8 kyphoscoliosis 58 31 Frequent (79-30%) HP:0002751
9 pes cavus 58 31 Frequent (79-30%) HP:0001761
10 gait ataxia 58 31 Frequent (79-30%) HP:0002066
11 scoliosis 58 Frequent (79-30%)
12 nystagmus 58 Frequent (79-30%)
13 skeletal muscle atrophy 58 Occasional (29-5%)
14 genu valgum 58 Occasional (29-5%)
15 motor delay 31 HP:0001270
16 talipes equinovarus 58 Frequent (79-30%)
17 abnormality of the immune system 31 HP:0002715
18 impaired pain sensation 58 Frequent (79-30%)
19 impaired vibratory sensation 58 Frequent (79-30%)
20 babinski sign 58 Occasional (29-5%)
21 clumsiness 58 Frequent (79-30%)
22 hammertoe 31 HP:0001765
23 sensory impairment 58 Frequent (79-30%)
24 unsteady gait 58 Frequent (79-30%)
25 distal muscle weakness 31 HP:0002460
26 frequent falls 58 Occasional (29-5%)
27 difficulty walking 58 Frequent (79-30%)
28 distal sensory impairment 31 HP:0002936
29 limb ataxia 58 Frequent (79-30%)
30 urinary bladder sphincter dysfunction 58 Occasional (29-5%)
31 intrinsic hand muscle atrophy 58 Occasional (29-5%)
32 sensorimotor neuropathy 58 Frequent (79-30%)
33 postural tremor 58 Frequent (79-30%)
34 lower limb muscle weakness 58 Frequent (79-30%)
35 segmental peripheral demyelination/remyelination 31 HP:0003481
36 upper limb postural tremor 31 HP:0007351
37 acute demyelinating polyneuropathy 58 Frequent (79-30%)
38 onion bulb formation 31 HP:0003383

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
upper limb postural tremor
hypertrophic nerve changes
more
Skeletal Spine:
kyphoscoliosis may be present

Skeletal Feet:
pes cavus
foot deformities
hammer toes

Immunology:
foot ulcerations
foot infections leading to amputation

Clinical features from OMIM®:

180800 (Updated 05-Apr-2021)

UMLS symptoms related to Roussy-Levy Hereditary Areflexic Dystasia:


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

Drugs & Therapeutics for Roussy-Levy Hereditary Areflexic Dystasia

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

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
2 Trace Elements Phase 4
3 Nutrients Phase 4
4 Micronutrients Phase 4
5 Vitamins Phase 4
6 Protective Agents Phase 4
7 Antioxidants Phase 4
8 Vitamin B9 Phase 4
9 Vitamin B Complex Phase 4
10 Folate Phase 4
11 Alpha-lipoic Acid Phase 4
12 Thioctic Acid Phase 4
13
Acetylcarnitine Approved, Investigational Phase 2, Phase 3 3040-38-8 7045767
14
Ethanol Approved Phase 3 64-17-5 702
15
Sorbitol Approved Phase 3 50-70-4 5780
16
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
17
Baclofen Approved Phase 3 1134-47-0 2284
18
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
19 carnitine Phase 2, Phase 3
20 Nootropic Agents Phase 2, Phase 3
21 Pharmaceutical Solutions Phase 3
22 Gastrointestinal Agents Phase 3
23 Narcotics Phase 3
24 Neurotransmitter Agents Phase 3
25 Cathartics Phase 3
26 GABA Agonists Phase 3
27 Laxatives Phase 3
28 Narcotic Antagonists Phase 3
29 Neuroprotective Agents Phase 2, Phase 3
30 Epoetin alfa Phase 2, Phase 3 113427-24-0
31 Hematinics Phase 2, Phase 3
32
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
33
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 1, Phase 2 303-98-0 5281915
34
Biotin Approved, Investigational, Nutraceutical Phase 2 58-85-5 171548
35 Ubiquinone Phase 1, Phase 2
36 Vitamin B7 Phase 2
37 Ulipristal acetate Phase 2 126784-99-4
38
Iron Approved 7439-89-6 23925 29936
39
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
40
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
41 Analgesics
42 Calciferol
43 Calcium, Dietary
44 insulin
45 Hemostatics
46 Insulin, Globin Zinc
47 Immunosuppressive Agents
48 Immunologic Factors
49
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show top 50) (show all 62)
# Name Status NCT ID Phase Drugs
1 The Association of Alpha Lipoic Acid to the Median Nerve Decompression in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
2 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4 Triamcinolone;Lidocaine
3 A Multicenter Study to Evaluate the Effects on Charcot-Marie-Tooth Neuropathy Type 1A of a Composite Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program. Unknown status NCT01289704 Phase 2, Phase 3
4 A Randomized, Placebo-controlled, Double Masked 120 Subject "Futility Design" Clinical Trial of Ascorbic Acid Treatment of Charcot Marie Tooth Disease Type 1A. Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
5 International, Multi-center, Randomized, Double-blind, Placebo-controlled Phase III Study Assessing in Parallel Groups the Efficacy and Safety of 2 Doses of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Treated 15 Months Completed NCT02579759 Phase 3 PXT3003 dose 1;PXT3003 dose 2;placebo
6 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome; a Randomized Control Trial. Completed NCT02141035 Phase 2, Phase 3 Acetyl-l-carnitine;placebo
7 A Multi-center, Randomized, Double-blind, Placebo Controlled Phase III Study to Assess the Efficacy, Safety, and Tolerability of PXT3003 in Charcot-Marie-Tooth Type 1A (CMT1A) Recruiting NCT04762758 Phase 3 (RS)-baclofen, naltrexone hydrochloride and D-sorbitol;Placebo
8 International, Multi-center, Open Label, Follow-up Extension Study Assessing the Long-term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Active, not recruiting NCT03023540 Phase 3 PXT3003
9 Recombinant Human Erythropoietin (r-HuEPO) in the Prevention of Neurologic Sequelae From Malignant Spinal Cord Compression: a Multi-Center, Placebo-Controlled, Phase 2 Randomized Study Terminated NCT00220675 Phase 2, Phase 3 Erythropoietin infusion
10 The Influence of Pronator Teres Release in the Treatment of Median Nerve Compression Neuropathy: A Randomized Prospective Study Unknown status NCT01562860 Phase 2
11 A Phase II, Randomized, Placebo-controlled Trial of the Safety, Efficacy, Pharmacodynamics and Pharmacokinetics of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A. Completed NCT01401257 Phase 2 PXT3003 Low dose;PXT3003 Intermediate Dose;PXT3003 High Dose
12 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
13 Effects of Coenzyme Q10 (CoQ10) on Subjects With Charcot-Marie-Tooth Disease (CMT):A Double Blind, Randomized, Controlled Trial With an Open Label Follow-up Study Completed NCT00541164 Phase 1, Phase 2 Coenzyme Q10
14 Phase 2 Study of Ascorbic Acid Treatment in Charcot-Marie-Tooth Type 1A Completed NCT00271635 Phase 2 Placebo;ascorbic acid
15 SERENDEM Study: MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Completed NCT02967679 Phase 2 MD1003
16 Neuropathy Along the Median Nerve: Etiology of Symptoms Associated With the Carpal Tunnel Syndrome, a Preliminary Study Completed NCT00634738 Phase 1, Phase 2
17 Phase I/IIa Trial Evaluating scAAV1.tMCK.NTF3 for Treatment of Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A) Recruiting NCT03520751 Phase 1, Phase 2 scAAV1.tMCK.NTF3
18 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Types 1 and X Terminated NCT03124459 Phase 2 ACE-083;Placebo
19 A Randomized, Double-Blind, Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of FLX-787-ODT for Treatment of Muscle Cramps in Adult Subjects With Charcot-Marie-Tooth Disease Terminated NCT03254199 Phase 2 FLX-787-ODT (orally disintegrating tablet);Placebo ODT
20 An Open-Label Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) Previously Enrolled in Study A083-02 and in Patients With Charcot-Marie Tooth (CMT) Disease Types 1 and X Previously Enrolled in Study A083-03 Terminated NCT03943290 Phase 2 ACE-083
21 LONG-TERM EFFECTS TOLERANCE AND THE Ulipristal Acetate IN DISEASE Charcot-MARIE-TOOTH TYPE OF 1A Terminated NCT02600286 Phase 2 EllaOne;EllaOne placebo
22 Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT Unknown status NCT02979145
23 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others Unknown status NCT01193075
24 Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Unknown status NCT02596191
25 Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth Unknown status NCT01203085
26 Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs Unknown status NCT01918826
27 The Feasibility and Effect of Ankle Foot Orthoses and Underfoot Vibration on the Postural Stability of People With Inherited Neuropathy Unknown status NCT03278093
28 Quantification of Nerve Stiffness in Patients With Peripheral Neuropathies Unknown status NCT03397303
29 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Completed NCT02982343
30 Development and Validation of a Disability Severity Index for Charcot Marie Tooth Disease Completed NCT01455623
31 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Completed NCT01750710
32 Survey of Current Management of Orthopaedic Complications in Charcot Marie Tooth Disease Patients Completed NCT02001038
33 Influence of Irisin on Muscle Quality in a Cohort of Charcot-Marie-Tooth Patients Completed NCT04786522
34 Clinical and Genetic Features of Familial Neuropathy Completed NCT00149045
35 A Randomized Double Blind Longitudinal Study to Determine Motor Unit Number Index Variability in CMT1A Patients Undergoing a Home Ankle Strengthening Program Versus Standard of Care Completed NCT03715283
36 Biomarkers and Validation of Selected Outcome Measures (CMTNSmod) Completed NCT03386266
37 An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients Completed NCT02429947
38 Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Completed NCT02194010
39 The Management of Abdominal Cutaneous Nerve Entrapment Syndrome Completed NCT03574727
40 A Prospective Non-Randomized Unblinded Study Evaluating Treatment of Forefoot Pain Related to Nerve Entrapment Using the Cryo-Touch III Device Completed NCT01753778
41 Efficacy of Keyhole Approach to Carpal Tunnel Syndrome Under Ambulatory Completed NCT03062722
42 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
43 Nociceptive Processing in Acute Cutaneous Nerve Entrapment Syndrome: a Quantitative Sensory Testing Analysis. Completed NCT01920880
44 Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT) Completed NCT03966287
45 Suprascapular Neuropathy in the Setting of Rotator Cuff Tears; Results of Arthroscopic Treatment Completed NCT02318381
46 Posterior Interosseous Nerve Pathology May Provide Novel Insights Into Both Predisposition and Potential Vascular Basis for the Development of Carpal Tunnel Syndrome in Diabetic Patients. Completed NCT00856011
47 MRI of the Brachial Plexus and Chronic Inflammatory Demyelinating Polyradiculoneuropathy: Assessment of DTI-derived Measurements at 3.0-T Completed NCT03460951
48 Clinical Outcomes of Surgical Release Among Diabetic Patients With Carpal Tunnel Syndrome. A Prospective Study With Matched Controls Completed NCT00775333
49 Noninvasive Assessment of Neuromuscular Disease Using Electrical Impedance Completed NCT02011204
50 Accuracy of Ultrasonography and Electromyography in the Diagnosis of Carpal Tunnel Syndrome Completed NCT02553811

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Genetic Tests for Roussy-Levy Hereditary Areflexic Dystasia

Genetic tests related to Roussy-Levy Hereditary Areflexic Dystasia:

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

Anatomical Context for Roussy-Levy Hereditary Areflexic Dystasia

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

40
Spinal Cord, Skeletal Muscle, Brain

Publications for Roussy-Levy Hereditary Areflexic Dystasia

Articles related to Roussy-Levy Hereditary Areflexic Dystasia:

(show all 42)
# Title Authors PMID Year
1
The Roussy-Lévy family: from the original description to the gene. 57 6
10553995 1999
2
Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2. 6 57
9543325 1998
3
A kinship with the Roussy-Levy syndrome. 57 61
5834704 1965
4
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. 6
19259128 2009
5
Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease. 6
15786462 2005
6
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. 6
8105684 1993
7
Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12. 6
8500795 1993
8
De-novo mutation in hereditary motor and sensory neuropathy type I. 6
1349106 1992
9
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. 6
1301995 1992
10
Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. 6
1552545 1992
11
Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families. 6
1552536 1992
12
The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2. 6
1721895 1991
13
DNA duplication associated with Charcot-Marie-Tooth disease type 1A. 6
1677316 1991
14
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. 6
1822787 1991
15
Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy. 6
475348 1979
16
Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy). 57
4467779 1974
17
[Study of hereditary areflexic dystasia; present condition of four of the first seven cases of Roussy and Mlle. Lévy thirty years after the first publication of these authors]. 57
13360305 1956
18
Hereditary areflex dystasia; report on a family with Roussy-Lévy disease in Israel. 57
14863318 1951
19
THE BAR "GENE" A DUPLICATION. 6
17796454 1936
20
A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome. 54 61
18592125 2008
21
Neuropathic Tremor in Chronic Inflammatory Demyelinating Polyneuropathy: The Acquired Equivalent of the Roussy-Levy Syndrome. 61
30713908 2016
22
Effective thalamic deep brain stimulation for neuropathic tremor in a patient with severe demyelinating neuropathy. 61
19151022 2009
23
Charcot-Marie-Tooth disease type 1A: clinicopathological correlations in 24 patients. 61
15703022 2005
24
A case of the Roussy-Levy syndrome family. 61
11977346 2001
25
[Roussy-Lévy syndrome with a duplication on peripheral myelin protein gene (PMP22)]. 54
11186918 2000
26
[Clinical characteristics of hereditary ataxia]. 61
3381607 1988
27
Roussy-Levy syndrome with diabetes mellitus. 61
4093411 1985
28
Evidence that Charcot-Marie-tooth disease with tremor coincides with the Roussy-Levy syndrome. 61
6509399 1984
29
An interesting case of Roussy-Levy syndrome inherited as autosomal dominant with diabetes mellitus. 61
6654813 1983
30
[Clinical systematization and diagnosis of polyneuropathies]. 61
6305065 1983
31
Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. 61
1087179 1976
32
Scheuermann's kyphoscoliosis associated with Charcot-Marie-Tooth syndrome. 61
949237 1976
33
Roussy-Levy Syndrome with psychosis. 61
1182641 1975
34
Investigation of a family with hypertrophic neuropathy resembling Roussy-Levy syndrome. Clinical, electrophysiologic, histologic, and biochemical studies. 61
4368842 1974
35
Roussy-Levy hereditary areflexic dystasia. 61
5173378 1971
36
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. 61
5948001 1966
37
Roussy-Levy syndrome with functional impairment and anomalies of gastro-intestinal tract. 61
5868071 1965
38
A kinship of the Roussy-Levy syndrome: a clinical and electrophysiological study. 61
5828526 1964
39
[A family with Roussy-Levy syndrome]. 61
13963587 1962
40
[Considerations on an atypical case of the Roussy-Levy syndrome]. 61
13870897 1960
41
[Discovery of an hereditary areflexic dystaxia (Roussy-Levy syndrome) in a patient hospitalized for acute glomerulonephritis]. 61
13722067 1960
42
[Comments on Roussy-Levy syndrome]. 61
14862700 1951

Variations for Roussy-Levy Hereditary Areflexic Dystasia

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

6 (show top 50) (show all 54)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PMP22 PMP22, 1.4-MB DUP Duplication Pathogenic 8427 GRCh37:
GRCh38:
2 MPZ NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) SNV Pathogenic 14170 rs121913586 GRCh37: 1:161276204-161276204
GRCh38: 1:161306414-161306414
3 PMP22 NM_000304.4(PMP22):c.434del (p.Leu145fs) Deletion Pathogenic 217238 rs863225029 GRCh37: 17:15134283-15134283
GRCh38: 17:15230966-15230966
4 MPZ NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) SNV Pathogenic 14191 rs121913603 GRCh37: 1:161276512-161276512
GRCh38: 1:161306722-161306722
5 MPZ NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) SNV Pathogenic 14186 rs121913599 GRCh37: 1:161276553-161276553
GRCh38: 1:161306763-161306763
6 MPZ NM_000530.8(MPZ):c.371C>T (p.Thr124Met) SNV Pathogenic 14181 rs121913595 GRCh37: 1:161276575-161276575
GRCh38: 1:161306785-161306785
7 MPZ NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) SNV Likely pathogenic 216963 rs754068936 GRCh37: 1:161276252-161276252
GRCh38: 1:161306462-161306462
8 MPZ NM_000530.8(MPZ):c.173T>A (p.Val58Asp) SNV Likely pathogenic 637777 rs1571820049 GRCh37: 1:161277109-161277109
GRCh38: 1:161307319-161307319
9 PMP22 NM_000304.4(PMP22):c.36C>A (p.His12Gln) SNV Likely pathogenic 8434 rs104894622 GRCh37: 17:15164009-15164009
GRCh38: 17:15260692-15260692
10 MPZ NM_000530.8(MPZ):c.699T>G (p.Ser233Arg) SNV Likely pathogenic 374017 rs1057518839 GRCh37: 1:161275714-161275714
GRCh38: 1:161305924-161305924
11 MPZ NM_000530.8(MPZ):c.392dup (p.Asn131fs) Duplication Likely pathogenic 930962 GRCh37: 1:161276553-161276554
GRCh38: 1:161306763-161306764
12 MPZ NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) SNV Likely pathogenic 462797 rs1553259648 GRCh37: 1:161276549-161276549
GRCh38: 1:161306759-161306759
13 MPZ NM_000530.8(MPZ):c.*858T>C SNV Uncertain significance 293303 rs886045473 GRCh37: 1:161274808-161274808
GRCh38: 1:161305018-161305018
14 MPZ NM_000530.8(MPZ):c.186C>G (p.Ile62Met) SNV Uncertain significance 14194 rs121913605 GRCh37: 1:161277096-161277096
GRCh38: 1:161307306-161307306
15 MPZ NM_000530.8(MPZ):c.*251C>G SNV Uncertain significance 293309 rs772995394 GRCh37: 1:161275415-161275415
GRCh38: 1:161305625-161305625
16 MPZ NM_000530.8(MPZ):c.444A>T (p.Glu148Asp) SNV Uncertain significance 873574 GRCh37: 1:161276502-161276502
GRCh38: 1:161306712-161306712
17 MPZ NM_000530.8(MPZ):c.*341A>G SNV Uncertain significance 874466 GRCh37: 1:161275325-161275325
GRCh38: 1:161305535-161305535
18 MPZ NM_000530.8(MPZ):c.*102C>T SNV Uncertain significance 874516 GRCh37: 1:161275564-161275564
GRCh38: 1:161305774-161305774
19 MPZ NM_000530.8(MPZ):c.*522C>A SNV Uncertain significance 875383 GRCh37: 1:161275144-161275144
GRCh38: 1:161305354-161305354
20 MPZ NM_000530.8(MPZ):c.*435T>G SNV Uncertain significance 875384 GRCh37: 1:161275231-161275231
GRCh38: 1:161305441-161305441
21 MPZ NM_000530.8(MPZ):c.184A>G (p.Ile62Val) SNV Uncertain significance 875495 GRCh37: 1:161277098-161277098
GRCh38: 1:161307308-161307308
22 MPZ NM_000530.8(MPZ):c.*903G>A SNV Uncertain significance 876254 GRCh37: 1:161274763-161274763
GRCh38: 1:161304973-161304973
23 MPZ NM_000530.8(MPZ):c.*752G>A SNV Uncertain significance 876373 GRCh37: 1:161274914-161274914
GRCh38: 1:161305124-161305124
24 MPZ NM_000530.8(MPZ):c.*369C>T SNV Uncertain significance 876415 GRCh37: 1:161275297-161275297
GRCh38: 1:161305507-161305507
25 MPZ NM_000530.8(MPZ):c.603dup (p.Leu202fs) Duplication Uncertain significance 931561 GRCh37: 1:161275939-161275940
GRCh38: 1:161306149-161306150
26 MPZ NM_000530.8(MPZ):c.*954C>A SNV Uncertain significance 293301 rs372340608 GRCh37: 1:161274712-161274712
GRCh38: 1:161304922-161304922
27 MPZ NM_000530.8(MPZ):c.*681A>T SNV Uncertain significance 293306 rs886045474 GRCh37: 1:161274985-161274985
GRCh38: 1:161305195-161305195
28 MPZ NM_000530.8(MPZ):c.*1020G>A SNV Uncertain significance 293300 rs886045472 GRCh37: 1:161274646-161274646
GRCh38: 1:161304856-161304856
29 PMP22 NM_000304.4(PMP22):c.422T>G (p.Val141Gly) SNV Uncertain significance 373965 rs1057518804 GRCh37: 17:15134295-15134295
GRCh38: 17:15230978-15230978
30 MPZ NM_000530.8(MPZ):c.515T>C (p.Leu172Pro) SNV Uncertain significance 293312 rs886045475 GRCh37: 1:161276188-161276188
GRCh38: 1:161306398-161306398
31 MPZ NM_000530.8(MPZ):c.*1074A>C SNV Uncertain significance 293298 rs886045471 GRCh37: 1:161274592-161274592
GRCh38: 1:161304802-161304802
32 PMP22 NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) SNV Uncertain significance 462781 rs1022583382 GRCh37: 17:15134239-15134239
GRCh38: 17:15230922-15230922
33 MPZ NM_000530.8(MPZ):c.428C>T (p.Thr143Met) SNV Uncertain significance 531684 rs750724650 GRCh37: 1:161276518-161276518
GRCh38: 1:161306728-161306728
34 MPZ NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) SNV Uncertain significance 246524 rs200151353 GRCh37: 1:161277149-161277149
GRCh38: 1:161307359-161307359
35 MPZ NM_000530.8(MPZ):c.200G>A (p.Arg67His) SNV Uncertain significance 237875 rs201720099 GRCh37: 1:161277082-161277082
GRCh38: 1:161307292-161307292
36 PMP22 NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) SNV Uncertain significance 188195 rs756046682 GRCh37: 17:15142922-15142922
GRCh38: 17:15239605-15239605
37 MPZ NM_000530.8(MPZ):c.504G>A (p.Val168=) SNV Likely benign 293313 rs145592910 GRCh37: 1:161276199-161276199
GRCh38: 1:161306409-161306409
38 MPZ NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) SNV Likely benign 246572 rs202176679 GRCh37: 1:161275906-161275906
GRCh38: 1:161306116-161306116
39 MPZ NM_000530.8(MPZ):c.684C>T (p.Ser228=) SNV Benign 129619 rs34307129 GRCh37: 1:161275729-161275729
GRCh38: 1:161305939-161305939
40 MPZ NM_000530.8(MPZ):c.600G>A (p.Gly200=) SNV Benign 138242 rs16832790 GRCh37: 1:161275943-161275943
GRCh38: 1:161306153-161306153
41 MPZ NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) SNV Benign 293314 rs530923760 GRCh37: 1:161277205-161277205
GRCh38: 1:161307415-161307415
42 MPZ , SDHC NM_003001.3(SDHC):c.20+11_20+12dup Duplication Benign 44647 rs35215598 GRCh37: 1:161284226-161284227
GRCh38: 1:161314434-161314435
43 MPZ NM_000530.8(MPZ):c.*52G>A SNV Benign 293311 rs774701563 GRCh37: 1:161275614-161275614
GRCh38: 1:161305824-161305824
44 MPZ NM_000530.8(MPZ):c.*901_*902GA[7] Microsatellite Benign 293302 rs149030537 GRCh37: 1:161274755-161274756
GRCh38: 1:161304965-161304966
45 MPZ NM_000530.8(MPZ):c.*1048A>T SNV Benign 293299 rs71639057 GRCh37: 1:161274618-161274618
GRCh38: 1:161304828-161304828
46 MPZ NM_000530.8(MPZ):c.*761A>G SNV Benign 293304 rs16832786 GRCh37: 1:161274905-161274905
GRCh38: 1:161305115-161305115
47 MPZ NM_000530.8(MPZ):c.*743C>T SNV Benign 293305 rs140992541 GRCh37: 1:161274923-161274923
GRCh38: 1:161305133-161305133
48 MPZ NM_000530.8(MPZ):c.*360C>G SNV Benign 876416 GRCh37: 1:161275306-161275306
GRCh38: 1:161305516-161305516
49 MPZ NM_000530.8(MPZ):c.*624C>T SNV Benign 293307 rs60821801 GRCh37: 1:161275042-161275042
GRCh38: 1:161305252-161305252
50 MPZ NM_000530.8(MPZ):c.*568C>G SNV Benign 293308 rs60731755 GRCh37: 1:161275098-161275098
GRCh38: 1:161305308-161305308

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

72
# Symbol AA change Variation ID SNP ID
1 MPZ p.Asn131Lys VAR_015978 rs121913599

Expression for Roussy-Levy Hereditary Areflexic Dystasia

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

Pathways for Roussy-Levy Hereditary Areflexic Dystasia

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

36
# Name Kegg Source Accession
1 Cell adhesion molecules 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 10.63 PMP22 MPZ

GO Terms for Roussy-Levy Hereditary Areflexic Dystasia

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 8.62 PMP22 MPZ

Sources for Roussy-Levy Hereditary Areflexic Dystasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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