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ROULS
MCID: RSS026
MIFTS: 47

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 56 74 73
Roussy-Levy Syndrome 56 58 73 36 13 54 71
Charcot-Marie-Tooth Disease 52 71
Roussy-Lévy Syndrome 29 6
Hereditary Areflexic Dystasia, Roussy-Levy Type 58
Hereditary Motor and Sensory Neuropathy Type I 71
Roussy Levy Hereditary Areflexic Dystasia 52
Charcot-Marie-Tooth-Roussy-Levy Disease 52
Hereditary Motor Sensory Neuropathy I 52
Hereditary Areflexic Dystasia 52
Syndrome, Roussy-Levy 39
Roussy Levy Syndrome 52
Roussy-Levy Disease 52
Hmsn I 52
Rouls 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 180800
KEGG 36 H01155
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C0205713
Orphanet 58 ORPHA3115
MedGen 41 C0205713
UMLS 71 C0007959 C0205713 C0751036
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Summaries for Roussy-Levy Hereditary Areflexic Dystasia

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NIH Rare Diseases : 52 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, demyelinating, type 1d and charcot-marie-tooth disease, demyelinating, type 1c, 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 (CAMs) and Peroxisome. The drugs Folic acid and Trace Elements have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, thyroid and testes, and related phenotypes are gait disturbance and areflexia

OMIM : 56 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)

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 : 73 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 : 74 Roussy-Lévy syndrome, also known as Roussy-Lévy hereditary areflexic dystasia, is a rare genetic... more...

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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 495)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, demyelinating, type 1d 34.5 PMP22 MPZ
2 charcot-marie-tooth disease, demyelinating, type 1c 34.5 PMP22 MPZ
3 charcot-marie-tooth disease, type 4b3 34.4 PMP22 MPZ
4 charcot-marie-tooth disease and deafness 34.4 PMP22 MPZ
5 charcot-marie-tooth disease type x 34.1 PMP22 MPZ
6 charcot-marie-tooth disease, axonal, type 2e 34.0 PMP22 MPZ
7 neuropathy, congenital hypomyelinating, 1, autosomal recessive 33.5 PMP22 MPZ
8 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 33.3 PMP22 MPZ
9 neuropathy, hereditary, with liability to pressure palsies 32.7 PMP22 MPZ
10 foot drop 32.6 PMP22 MPZ
11 charcot-marie-tooth disease, demyelinating, type 1b 32.2 PMP22 MPZ
12 charcot-marie-tooth disease, x-linked dominant, 1 31.7 PMP22 MPZ
13 guillain-barre syndrome 30.5 PMP22 MPZ
14 charcot-marie-tooth disease 30.4 PMP22 MPZ
15 diabetic neuropathy 30.3 PMP22 MPZ
16 polyradiculoneuropathy 30.3 PMP22 MPZ
17 carpal tunnel syndrome 30.3 PMP22 MPZ
18 amyotrophic neuralgia 30.3 PMP22 MPZ
19 demyelinating disease 30.2 PMP22 MPZ
20 neuropathy 30.2 PMP22 MPZ
21 neurilemmoma 30.2 PMP22 MPZ
22 neuritis 30.1 PMP22 MPZ
23 sensory peripheral neuropathy 30.1 PMP22 MPZ
24 chronic inflammatory demyelinating polyradiculoneuropathy 30.0 PMP22 MPZ
25 tooth disease 30.0 PMP22 MPZ
26 hypertrophic neuropathy of dejerine-sottas 30.0 PMP22 MPZ
27 pelizaeus-merzbacher disease 29.9 PMP22 MPZ
28 charcot-marie-tooth disease, demyelinating, type 1a 29.8 PMP22 MPZ
29 hereditary neuropathies 29.6 PMP22 MPZ
30 polyneuropathy 29.4 PMP22 MPZ
31 peripheral nervous system disease 29.3 PMP22 MPZ
32 neuromuscular disease 29.1 PMP22 MPZ
33 charcot-marie-tooth disease, axonal, type 2b2 13.3
34 charcot-marie-tooth disease, axonal, type 2k 13.3
35 charcot-marie-tooth disease, axonal, type 2b1 13.3
36 charcot-marie-tooth disease, type 4b1 13.3
37 charcot-marie-tooth disease, type 4a 13.3
38 charcot-marie-tooth disease, axonal, type 2d 13.3
39 charcot-marie-tooth disease, type 4b2 13.3
40 charcot-marie-tooth disease, axonal, type 2p 13.3
41 charcot-marie-tooth disease, axonal, type 2f 13.3
42 charcot-marie-tooth disease, axonal, type 2a1 13.3
43 charcot-marie-tooth disease, axonal, type 2j 13.3
44 charcot-marie-tooth disease, axonal, type 2b 13.3
45 charcot-marie-tooth disease, type 4h 13.3
46 charcot-marie-tooth disease, dominant intermediate b 13.3
47 charcot-marie-tooth disease, type 4d 13.3
48 charcot-marie-tooth disease, type 4j 13.3
49 charcot-marie-tooth disease, axonal, type 2o 13.3
50 charcot-marie-tooth disease, type 4k 13.3

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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Human phenotypes related to Roussy-Levy Hereditary Areflexic Dystasia:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
2 areflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001284
3 hyporeflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001265
4 decreased motor nerve conduction velocity 58 31 hallmark (90%) Very frequent (99-80%) HP:0003431
5 distal amyotrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003693
6 decreased number of peripheral myelinated nerve fibers 58 31 hallmark (90%) Very frequent (99-80%) HP:0003380
7 hypertrophic nerve changes 58 31 hallmark (90%) Very frequent (99-80%) HP:0003382
8 abnormality of movement 58 Very frequent (99-80%)
9 motor delay 31 HP:0001270
10 kyphoscoliosis 31 HP:0002751
11 abnormality of the immune system 31 HP:0002715
12 pes cavus 31 HP:0001761
13 gait ataxia 31 HP:0002066
14 hammertoe 31 HP:0001765
15 distal muscle weakness 31 HP:0002460
16 distal sensory impairment 31 HP:0002936
17 segmental peripheral demyelination/remyelination 31 HP:0003481
18 upper limb postural tremor 31 HP:0007351
19 onion bulb formation 31 HP:0003383

Symptoms via clinical synopsis from OMIM:

56
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
hypertrophic nerve changes
upper limb postural tremor
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

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
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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 all 32)
# 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 Vitamins Phase 4
4 Nutrients Phase 4
5 Micronutrients Phase 4
6 Antioxidants Phase 4
7 Protective Agents Phase 4
8 Alpha-lipoic Acid Phase 4
9 Vitamin B Complex Phase 4
10 Folate Phase 4
11 Thioctic Acid Phase 4
12 Vitamin B9 Phase 4
13
Acetylcarnitine Approved, Investigational Phase 2, Phase 3 3040-38-8 7045767
14
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
15
Sorbitol Approved Phase 3 50-70-4 5780
16
Baclofen Approved Phase 3 1134-47-0 2284
17
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
18 carnitine Phase 2, Phase 3
19 Pharmaceutical Solutions Phase 3
20 Hematinics Phase 2, Phase 3
21 Neuroprotective Agents Phase 2, Phase 3
22 Epoetin alfa Phase 2, Phase 3 113427-24-0
23
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
24
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 1, Phase 2 303-98-0 5281915
25 Ubiquinone Phase 1, Phase 2
26 Ulipristal acetate Phase 2 126784-99-4
27 Analgesics
28 Insulin, Globin Zinc
29 Hemostatics
30 insulin
31 Immunologic Factors
32 Immunosuppressive Agents

Interventional clinical trials:

(show top 50) (show all 61)
# 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 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
5 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
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 International, Multi-center, Open Label, 9-month 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
8 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
9 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Unknown status NCT02967679 Phase 1, Phase 2 MD1003
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 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
12 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
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 Neuropathy Along the Median Nerve: Etiology of Symptoms Associated With the Carpal Tunnel Syndrome, a Preliminary Study Completed NCT00634738 Phase 1, Phase 2
15 Phase 2 Study of Ascorbic Acid Treatment in Charcot-Marie-Tooth Type 1A Completed NCT00271635 Phase 2 Placebo;ascorbic acid
16 Phase I/IIa Trial Evaluating scAAV1.tMCK.NTF3 for Treatment of Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A) Not yet recruiting NCT03520751 Phase 1, Phase 2 scAAV1.tMCK.NTF3
17 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
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 LONG-TERM EFFECTS TOLERANCE AND THE Ulipristal Acetate IN DISEASE Charcot-MARIE-TOOTH TYPE OF 1A Terminated NCT02600286 Phase 2 EllaOne;EllaOne placebo
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 Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Unknown status NCT02596191
22 Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT Unknown status NCT02979145
23 Quantification of Nerve Stiffness in Patients With Peripheral Neuropathies Unknown status NCT03397303
24 Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs Unknown status NCT01918826
25 Muscle Oxygenation Modification During Effort in 4 Groups of Neuromuscular Diseases Compared to Healthy Controls, and Mitochondrial Function and Phenotype Assessment Unknown status NCT02789059
26 Clinical and Genetic Features of Familial Neuropathy Completed NCT00149045
27 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Completed NCT01750710
28 Development and Validation of a Disability Severity Index for Charcot Marie Tooth Disease Completed NCT01455623
29 Survey of Current Management of Orthopaedic Complications in Charcot Marie Tooth Disease Patients Completed NCT02001038
30 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
31 Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Completed NCT02194010
32 An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients Completed NCT02429947
33 Clinical Outcomes of Surgical Release Among Diabetic Patients With Carpal Tunnel Syndrome. A Prospective Study With Matched Controls Completed NCT00775333
34 MRI of the Brachial Plexus and Chronic Inflammatory Demyelinating Polyradiculoneuropathy: Assessment of DTI-derived Measurements at 3.0-T Completed NCT03460951
35 The Management of Abdominal Cutaneous Nerve Entrapment Syndrome Completed NCT03574727
36 Nociceptive Processing in Acute Cutaneous Nerve Entrapment Syndrome: a Quantitative Sensory Testing Analysis. Completed NCT01920880
37 Noninvasive Assessment of Neuromuscular Disease Using Electrical Impedance Completed NCT02011204
38 Suprascapular Neuropathy in the Setting of Rotator Cuff Tears; Results of Arthroscopic Treatment Completed NCT02318381
39 Efficacy of Keyhole Approach to Carpal Tunnel Syndrome Under Ambulatory Completed NCT03062722
40 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
41 A Prospective Non-Randomized Unblinded Study Evaluating Treatment of Forefoot Pain Related to Nerve Entrapment Using the Cryo-Touch III Device Completed NCT01753778
42 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
43 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Completed NCT02982343
44 Accuracy of Ultrasonography and Electromyography in the Diagnosis of Carpal Tunnel Syndrome Completed NCT02553811
45 A Registered Observational Cohort Study of Charcot-Marie-Tooth Disease Recruiting NCT04010188
46 Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT Recruiting NCT01193088
47 The Impact of Charcot-Marie-Tooth Disease in the Real World Recruiting NCT03782883
48 Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth Recruiting NCT01203085
49 The Feasibility and Effect of Ankle Foot Orthoses and Underfoot Vibration on the Postural Stability of People With Inherited Neuropathy Recruiting NCT03278093
50 A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J) Recruiting NCT03810508

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
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Anatomical Context for Roussy-Levy Hereditary Areflexic Dystasia

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

40
Spinal Cord, Thyroid, Testes, Brain
Sources

Publications for Roussy-Levy Hereditary Areflexic Dystasia

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Articles related to Roussy-Levy Hereditary Areflexic Dystasia:

(show all 43)
# Title Authors PMID Year
1
The Roussy-Lévy family: from the original description to the gene. 56 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 56
9543325 1998
3
A kinship with the Roussy-Levy syndrome. 61 56
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
The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. 6
1303229 1992
9
De-novo mutation in hereditary motor and sensory neuropathy type I. 6
1349106 1992
10
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. 6
1301995 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
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
13
The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2. 6
1721895 1991
14
DNA duplication associated with Charcot-Marie-Tooth disease type 1A. 6
1677316 1991
15
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. 6
1822787 1991
16
Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy. 6
475348 1979
17
Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy). 56
4467779 1974
18
[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]. 56
13360305 1956
19
Hereditary areflex dystasia; report on a family with Roussy-Lévy disease in Israel. 56
14863318 1951
20
THE BAR "GENE" A DUPLICATION. 6
17796454 1936
21
A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome. 54 61
18592125 2008
22
Neuropathic Tremor in Chronic Inflammatory Demyelinating Polyneuropathy: The Acquired Equivalent of the Roussy-Levy Syndrome. 61
30713908 2016
23
Effective thalamic deep brain stimulation for neuropathic tremor in a patient with severe demyelinating neuropathy. 61
19151022 2009
24
Charcot-Marie-Tooth disease type 1A: clinicopathological correlations in 24 patients. 61
15703022 2005
25
A case of the Roussy-Levy syndrome family. 61
11977346 2001
26
[Roussy-Lévy syndrome with a duplication on peripheral myelin protein gene (PMP22)]. 54
11186918 2000
27
[Clinical characteristics of hereditary ataxia]. 61
3381607 1988
28
Roussy-Levy syndrome with diabetes mellitus. 61
4093411 1985
29
Evidence that Charcot-Marie-tooth disease with tremor coincides with the Roussy-Levy syndrome. 61
6509399 1984
30
An interesting case of Roussy-Levy syndrome inherited as autosomal dominant with diabetes mellitus. 61
6654813 1983
31
[Clinical systematization and diagnosis of polyneuropathies]. 61
6305065 1983
32
Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. 61
1087179 1976
33
Scheuermann's kyphoscoliosis associated with Charcot-Marie-Tooth syndrome. 61
949237 1976
34
Roussy-Levy Syndrome with psychosis. 61
1182641 1975
35
Investigation of a family with hypertrophic neuropathy resembling Roussy-Levy syndrome. Clinical, electrophysiologic, histologic, and biochemical studies. 61
4368842 1974
36
Roussy-Levy hereditary areflexic dystasia. 61
5173378 1971
37
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
38
Roussy-Levy syndrome with functional impairment and anomalies of gastro-intestinal tract. 61
5868071 1965
39
A kinship of the Roussy-Levy syndrome: a clinical and electrophysiological study. 61
5828526 1964
40
[A family with Roussy-Levy syndrome]. 61
13963587 1962
41
[Considerations on an atypical case of the Roussy-Levy syndrome]. 61
13870897 1960
42
[Discovery of an hereditary areflexic dystaxia (Roussy-Levy syndrome) in a patient hospitalized for acute glomerulonephritis]. 61
13722067 1960
43
[Comments on Roussy-Levy syndrome]. 61
14862700 1951
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Variations for Roussy-Levy Hereditary Areflexic Dystasia

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

6 (show all 46) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PMP22 PMP22, 1.4-MB DUPduplication Pathogenic 8427
2 MPZ NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)SNV Pathogenic 14170 rs121913586 1:161276204-161276204 1:161306414-161306414
3 MPZ NM_000530.8(MPZ):c.371C>T (p.Thr124Met)SNV Pathogenic 14181 rs121913595 1:161276575-161276575 1:161306785-161306785
4 MPZ NM_000530.8(MPZ):c.393C>A (p.Asn131Lys)SNV Pathogenic 14186 rs121913599 1:161276553-161276553 1:161306763-161306763
5 MPZ NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)SNV Pathogenic 14191 rs121913603 1:161276512-161276512 1:161306722-161306722
6 MPZ NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)SNV Pathogenic/Likely pathogenic 462797 rs1553259648 1:161276549-161276549 1:161306759-161306759
7 MPZ NM_000530.8(MPZ):c.*360C>GSNV Conflicting interpretations of pathogenicity 876416 1:161275306-161275306 1:161305516-161305516
8 MPZ NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)SNV Conflicting interpretations of pathogenicity 216963 1:161276252-161276252 1:161306462-161306462
9 MPZ NM_000530.8(MPZ):c.200G>A (p.Arg67His)SNV Conflicting interpretations of pathogenicity 237875 rs201720099 1:161277082-161277082 1:161307292-161307292
10 MPZ NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)SNV Conflicting interpretations of pathogenicity 246572 rs202176679 1:161275906-161275906 1:161306116-161306116
11 MPZ NM_000530.8(MPZ):c.*52G>ASNV Conflicting interpretations of pathogenicity 293311 rs774701563 1:161275614-161275614 1:161305824-161305824
12 MPZ NM_000530.8(MPZ):c.-49C>ASNV Conflicting interpretations of pathogenicity 293315 rs750777955 1:161279744-161279744 1:161309954-161309954
13 MPZ NM_000530.8(MPZ):c.*743C>TSNV Conflicting interpretations of pathogenicity 293305 rs140992541 1:161274923-161274923 1:161305133-161305133
14 MPZ NM_000530.8(MPZ):c.*195G>TSNV Conflicting interpretations of pathogenicity 293310 rs150182811 1:161275471-161275471 1:161305681-161305681
15 MPZ NM_000530.8(MPZ):c.*1048A>TSNV Conflicting interpretations of pathogenicity 293299 rs71639057 1:161274618-161274618 1:161304828-161304828
16 MPZ NM_000530.8(MPZ):c.77C>T (p.Pro26Leu)SNV Conflicting interpretations of pathogenicity 293314 rs530923760 1:161277205-161277205 1:161307415-161307415
17 PMP22 NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)SNV Uncertain significance 188195 rs756046682 17:15142922-15142922 17:15239605-15239605
18 MPZ NM_000530.8(MPZ):c.515T>C (p.Leu172Pro)SNV Uncertain significance 293312 rs886045475 1:161276188-161276188 1:161306398-161306398
19 MPZ NM_000530.8(MPZ):c.*1074A>CSNV Uncertain significance 293298 rs886045471 1:161274592-161274592 1:161304802-161304802
20 MPZ NM_000530.8(MPZ):c.*251C>GSNV Uncertain significance 293309 rs772995394 1:161275415-161275415 1:161305625-161305625
21 MPZ NM_000530.8(MPZ):c.*1020G>ASNV Uncertain significance 293300 rs886045472 1:161274646-161274646 1:161304856-161304856
22 MPZ NM_000530.8(MPZ):c.*954C>ASNV Uncertain significance 293301 rs372340608 1:161274712-161274712 1:161304922-161304922
23 MPZ NM_000530.8(MPZ):c.*858T>CSNV Uncertain significance 293303 rs886045473 1:161274808-161274808 1:161305018-161305018
24 MPZ NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)SNV Uncertain significance 246524 rs200151353 1:161277149-161277149 1:161307359-161307359
25 MPZ NM_000530.8(MPZ):c.*681A>TSNV Uncertain significance 293306 rs886045474 1:161274985-161274985 1:161305195-161305195
26 MPZ NM_000530.8(MPZ):c.*341A>GSNV Uncertain significance 874466 1:161275325-161275325 1:161305535-161305535
27 MPZ NM_000530.8(MPZ):c.*102C>TSNV Uncertain significance 874516 1:161275564-161275564 1:161305774-161305774
28 MPZ NM_000530.8(MPZ):c.444A>T (p.Glu148Asp)SNV Uncertain significance 873574 1:161276502-161276502 1:161306712-161306712
29 MPZ NM_000530.8(MPZ):c.184A>G (p.Ile62Val)SNV Uncertain significance 875495 1:161277098-161277098 1:161307308-161307308
30 PMP22 NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)SNV Uncertain significance 462781 rs1022583382 17:15134239-15134239 17:15230922-15230922
31 MPZ NM_000530.8(MPZ):c.428C>T (p.Thr143Met)SNV Uncertain significance 531684 rs750724650 1:161276518-161276518 1:161306728-161306728
32 PMP22 NM_000304.4(PMP22):c.362A>G (p.His121Arg)SNV Uncertain significance 586345 rs1567698985 17:15134355-15134355 17:15231038-15231038
33 MPZ NM_000530.8(MPZ):c.*903G>ASNV Uncertain significance 876254 1:161274763-161274763 1:161304973-161304973
34 MPZ NM_000530.8(MPZ):c.*752G>ASNV Uncertain significance 876373 1:161274914-161274914 1:161305124-161305124
35 MPZ NM_000530.8(MPZ):c.*522C>ASNV Uncertain significance 875383 1:161275144-161275144 1:161305354-161305354
36 MPZ NM_000530.8(MPZ):c.*435T>GSNV Uncertain significance 875384 1:161275231-161275231 1:161305441-161305441
37 MPZ NM_000530.8(MPZ):c.*369C>TSNV Uncertain significance 876415 1:161275297-161275297 1:161305507-161305507
38 MPZ NM_000530.8(MPZ):c.*568C>GSNV Benign/Likely benign 293308 rs60731755 1:161275098-161275098 1:161305308-161305308
39 MPZ NM_000530.8(MPZ):c.504G>A (p.Val168=)SNV Benign/Likely benign 293313 rs145592910 1:161276199-161276199 1:161306409-161306409
40 MPZ NM_000530.8(MPZ):c.684C>T (p.Ser228=)SNV Benign/Likely benign 129619 rs34307129 1:161275729-161275729 1:161305939-161305939
41 MPZ NM_000530.8(MPZ):c.*624C>TSNV Benign/Likely benign 293307 rs60821801 1:161275042-161275042 1:161305252-161305252
42 MPZ , SDHC NM_003001.3(SDHC):c.-38G>ASNV Benign 368837 rs112556972 1:161284158-161284158 1:161314368-161314368
43 MPZ NM_000530.8(MPZ):c.600G>A (p.Gly200=)SNV Benign 138242 rs16832790 1:161275943-161275943 1:161306153-161306153
44 MPZ NM_000530.8(MPZ):c.*901_*902GA[7]short repeat Benign 293302 rs149030537 1:161274755-161274756 1:161304965-161304966
45 MPZ NM_000530.8(MPZ):c.*761A>GSNV Benign 293304 rs16832786 1:161274905-161274905 1:161305115-161305115
46 MPZ , SDHC NM_003001.3(SDHC):c.20+11_20+12dupduplication Benign 44647 rs35215598 1:161284226-161284227 1:161314434-161314435

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

73
# Symbol AA change Variation ID SNP ID
1 MPZ p.Asn131Lys VAR_015978 rs121913599

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:

36
# 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 PMP22 MPZ
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 PMP22 MPZ
2 myelination GO:0042552 8.62 PMP22 MPZ
Sources

Sources for Roussy-Levy Hereditary Areflexic Dystasia

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3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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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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