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MCID: RSS026
MIFTS: 46

Roussy-Levy Hereditary Areflexic Dystasia

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

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MalaCards integrated aliases for Roussy-Levy Hereditary Areflexic Dystasia:

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

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:

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


External Ids:

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

Summaries for Roussy-Levy Hereditary Areflexic Dystasia

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

MalaCards based summary : Roussy-Levy Hereditary Areflexic Dystasia, also known as roussy-levy syndrome, is related to charcot-marie-tooth disease, axonal, type 2e and charcot-marie-tooth disease, demyelinating, type 1b, and has symptoms including back pain, headache and 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 Lidocaine and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include testes, skin and brain, and related phenotypes are gait disturbance and decreased motor nerve conduction velocity

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

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

Description from OMIM: 180800
Sources

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 all 38)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2e 33.9 MPZ PMP22
2 charcot-marie-tooth disease, demyelinating, type 1b 31.3 MPZ PMP22
3 tooth disease 29.6 MPZ PMP22
4 charcot-marie-tooth disease 29.3 MPZ PMP22
5 neuropathy 28.7 MPZ PMP22
6 charcot-marie-tooth disease, x-linked dominant, 1 11.1
7 hereditary motor and sensory neuropathy v 11.1
8 diabetes mellitus 10.3
9 heavy chain disease 9.9
10 agammaglobulinemia 9.9
11 hereditary neuropathy with liability to pressure palsy 9.8 MPZ PMP22
12 congenital hypomyelination neuropathy 9.8 MPZ PMP22
13 charcot-marie-tooth neuropathy type 1 9.8 MPZ PMP22
14 foot drop 9.8 MPZ PMP22
15 myotonic dystrophy 9.8
16 myotonia atrophica 9.8
17 charcot-marie-tooth disease, demyelinating, type 1f 9.8 MPZ PMP22
18 charcot-marie-tooth disease, demyelinating, type 1c 9.8 MPZ PMP22
19 neuropathy, hereditary, with liability to pressure palsies 9.8 MPZ PMP22
20 charcot-marie-tooth disease, axonal, type 2b 9.8 MPZ PMP22
21 motor peripheral neuropathy 9.8 MPZ PMP22
22 charcot-marie-tooth disease, demyelinating, type 1a 9.8 MPZ PMP22
23 chronic inflammatory demyelinating polyradiculoneuropathy 9.8 MPZ PMP22
24 charcot-marie-tooth disease, demyelinating, type 1d 9.7 MPZ PMP22
25 hereditary neuropathies 9.7 MPZ PMP22
26 polyradiculoneuropathy 9.7 MPZ PMP22
27 pelizaeus-merzbacher disease 9.7 MPZ PMP22
28 charcot-marie-tooth disease and deafness 9.7 MPZ PMP22
29 guillain-barre syndrome 9.7 MPZ PMP22
30 neuritis 9.7 MPZ PMP22
31 hypertrophic neuropathy of dejerine-sottas 9.7 MPZ PMP22
32 sensory peripheral neuropathy 9.6 MPZ PMP22
33 peripheral nervous system disease 9.6 MPZ PMP22
34 diabetic neuropathy 9.6 MPZ PMP22
35 neuromuscular disease 9.6 MPZ PMP22
36 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 9.6 MPZ PMP22
37 polyneuropathy 9.5 MPZ PMP22
38 trehalase deficiency 9.0 MPZ PMP22

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



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

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Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes cavus
foot deformities
hammer toes

Skeletal Spine:
kyphoscoliosis may be present

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


Clinical features from OMIM:

180800

Human phenotypes related to Roussy-Levy Hereditary Areflexic Dystasia:

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

UMLS symptoms related to Roussy-Levy Hereditary Areflexic Dystasia:


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

Drugs & Therapeutics for Roussy-Levy Hereditary Areflexic Dystasia

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

(show top 50) (show all 202)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 137-58-6 3676
2
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 83-43-2 6741
3
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 50-24-8 5755
4
Bupivacaine Approved, Investigational Phase 4,Not Applicable 2180-92-9, 38396-39-3 2474
5
Acetaminophen Approved Phase 4,Phase 2 103-90-2 1983
6
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
7
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
8
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 3 56-12-2 119
9
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 71273 175805
10
Betamethasone Approved, Vet_approved Phase 4,Phase 3 378-44-9 9782
11
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 124-94-7 31307
12
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
13
Hydrocodone Approved, Illicit Phase 4 125-29-1 5284569
14
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
15
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
16
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 2 76-42-6 5284603
17
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-30-3 6037
18
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
19 tannic acid Approved, Nutraceutical Phase 4
20 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
21 Antiemetics Phase 4,Phase 2,Phase 3,Not Applicable
22 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Not Applicable
23 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3,Not Applicable
24 Autonomic Agents Phase 4,Phase 2,Phase 3,Not Applicable
25 Gastrointestinal Agents Phase 4,Phase 2,Phase 3,Not Applicable
26 glucocorticoids Phase 4,Phase 3,Phase 2,Not Applicable
27 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
28 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
30 Methylprednisolone acetate Phase 4,Phase 2,Phase 3,Not Applicable
31 Methylprednisolone Hemisuccinate Phase 4,Phase 2,Phase 3,Not Applicable
32 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Not Applicable
33 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Prednisolone acetate Phase 4,Phase 2,Phase 3,Not Applicable
35 Prednisolone hemisuccinate Phase 4,Phase 2,Phase 3,Not Applicable
36 Prednisolone phosphate Phase 4,Phase 2,Phase 3,Not Applicable
37 Analgesics Phase 4,Phase 3,Phase 2,Not Applicable
38 Analgesics, Non-Narcotic Phase 4,Phase 2,Not Applicable
39 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
40 Anesthetics, Local Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
41 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
42 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
43 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
44 Sodium Channel Blockers Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
45 Anticonvulsants Phase 4,Phase 3,Not Applicable
46 Antimanic Agents Phase 4,Phase 3,Not Applicable
47 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Not Applicable
49 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Not Applicable
50 Respiratory System Agents Phase 4,Phase 3,Not Applicable

Interventional clinical trials:

(show top 50) (show all 266)
# 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 Local Steroid Injection vs Placebo in Carpal Tunnel Syndrome Completed NCT02652390 Phase 4 Methylprednisolone 80 mg;Methylprednisolone 40 mg
3 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
4 Efficacy Study of Local Steroid Injection and Wrist Splinting for Carpal Tunnel Syndrome Completed NCT02140632 Phase 4
5 Bupivacaine Versus Lidocaine Local Anesthesia Completed NCT01751347 Phase 4 Bupivacaine;Lidocaine
6 Length of Post Operative Dressing After Carpal Tunnel Release Completed NCT01310218 Phase 4
7 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
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 Therapeutic Effects Analysis of Pudendal Nerve Infiltrations After 3 Months, in Patients Suffering of Pudendal Neuralgia Completed NCT00851513 Phase 4 Lidocaine;Depmedrol
10 Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome Completed NCT00277563 Phase 4
11 Narcotic vs. Non-narcotic Pain Study Protocol Recruiting NCT01974609 Phase 4 Narcotic;non-narcotic
12 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%
13 Injection Versus Splinting in Carpal Tunnel Syndrome Active, not recruiting NCT02038452 Phase 4 Depo-Medrone
14 Post-operative Analgesia in Elective, Soft-tissue Hand Surgery Enrolling by invitation NCT02029235 Phase 4 Acetaminophen/Hydrocodone;Acetaminophen/Ibuprofen
15 Preoperative Antibiotics for Carpal Tunnel Release Surgery Not yet recruiting NCT03432858 Phase 4 Vancomycin;Cefazolin;Saline Solution
16 Patient Satisfaction With Pain Relief After Ambulatory Hand Surgery Terminated NCT01588158 Phase 4 Acetaminophen;Vicodin
17 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4 Triamcinolone;Lidocaine
18 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
19 Carpal Tunnel Syndrome Release Using PSU Retractor Unknown status NCT01017471 Phase 3
20 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
21 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome Completed NCT02141035 Phase 2, Phase 3 Acetyl-l-carnitine;placebo
22 Sonographic Examination Cubital Tunnel Release Completed NCT02739945 Phase 3
23 Sonography-guided Steroid Injection for Carpal Tunnel Syndrome Completed NCT02575729 Phase 3 betamethasone
24 Preoperative Gabapentine for Carpal Tunnel Completed NCT01632215 Phase 3 Gabapentine
25 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Completed NCT02604186 Phase 2, Phase 3
26 Steroid Injection Treatment of Carpal Tunnel Syndrome Completed NCT00806871 Phase 2, Phase 3 Methylprednisolone 40 mg;Methylprednisolone 80 mg;Sodium chloride
27 Gabapentin for Carpal Tunnel Syndrome Completed NCT00137735 Phase 3 Gabapentin
28 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
29 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3 PXT3003
30 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
31 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
32 Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome Enrolling by invitation NCT03184584 Phase 2, Phase 3 PBI-4050
33 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
34 Erythropoietin Spinal Cord Compression Randomized Trial Terminated NCT00220675 Phase 2, Phase 3 Erythropoietin infusion
35 NeuroPath Comparative Validation Study Plan Terminated NCT00393549 Phase 3
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 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%
38 Carpal Tunnel Syndrome and Static Magnetic Field Therapy Unknown status NCT00521495 Phase 2
39 Carpal Tunnel Syndrome Treated With 830nm Diode Laser Unknown status NCT00514462 Phase 1, Phase 2
40 Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease Completed NCT00541164 Phase 1, Phase 2 Coenzyme Q10
41 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
42 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
43 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2 Placebo;ascorbic acid
44 The Treatment of the Median Nerve for the Elimination of the Symptoms Associated With the Carpal Tunnel Syndrome Completed NCT00634738 Phase 1, Phase 2
45 L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1 Completed NCT01733407 Phase 1, Phase 2 L-serine;placebo
46 Comparison of Effect of Anterior Subcutaneous and Submuscular Transposition on Cubital Tunnel Syndrome Completed NCT01109901 Phase 2
47 A Pilot Study to Evaluate the Effectiveness of Ultrasound Guided Looped Thread Carpal Tunnel Release Completed NCT03476486 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 Percutaneous Treatment of Carpal Tunnel Syndrome With Scan Completed NCT02514317 Phase 2
50 Fascial Manipulation on the Treatment of Carpal Tunnel Syndrome Completed NCT02495298 Phase 2

Search NIH Clinical Center for Roussy-Levy Hereditary Areflexic Dystasia

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Genetic Tests for Roussy-Levy Hereditary Areflexic Dystasia

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Genetic tests related to Roussy-Levy Hereditary Areflexic Dystasia:

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

Anatomical Context for Roussy-Levy Hereditary Areflexic Dystasia

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

41
Testes, Skin, Brain, Liver, Heart, Spinal Cord
Sources

Publications for Roussy-Levy Hereditary Areflexic Dystasia

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Articles related to Roussy-Levy Hereditary Areflexic Dystasia:

(show all 12)
# 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
Roussy-Levy hereditary areflexic dystasia. ( 5173378 )
1971
9
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
10
Roussy-Levy syndrome with functional impairment and anomalies of gastro-intestinal tract. ( 5868071 )
1965
11
A kinship with the Roussy-Levy syndrome. ( 5834704 )
1965
12
A kinship of the Roussy-Levy syndrome: a clinical and electrophysiological study. ( 5828526 )
1964
Sources

Variations for Roussy-Levy Hereditary Areflexic Dystasia

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

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

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

6
(show all 47)
# Gene Variation Type Significance SNP ID Assembly Location
1 PMP22 PMP22, 1.4-MB DUP duplication Pathogenic
2 MPZ NM_000530.7(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh37 Chromosome 1, 161276204: 161276204
3 MPZ NM_000530.7(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh38 Chromosome 1, 161306414: 161306414
4 MPZ NM_000530.7(MPZ): c.393C> A (p.Asn131Lys) single nucleotide variant Pathogenic rs121913599 GRCh37 Chromosome 1, 161276553: 161276553
5 MPZ NM_000530.7(MPZ): c.393C> A (p.Asn131Lys) single nucleotide variant Pathogenic rs121913599 GRCh38 Chromosome 1, 161306763: 161306763
6 MPZ NM_000530.7(MPZ): c.451C> A (p.Pro151Thr) single nucleotide variant Likely pathogenic rs754068936 GRCh38 Chromosome 1, 161306462: 161306462
7 MPZ NM_000530.7(MPZ): c.451C> A (p.Pro151Thr) single nucleotide variant Likely pathogenic rs754068936 GRCh37 Chromosome 1, 161276252: 161276252
8 MPZ NM_000530.7(MPZ): c.637G> C (p.Gly213Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs202176679 GRCh37 Chromosome 1, 161275906: 161275906
9 MPZ NM_000530.7(MPZ): c.637G> C (p.Gly213Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs202176679 GRCh38 Chromosome 1, 161306116: 161306116
10 MPZ NM_000530.7(MPZ): c.*681A> T single nucleotide variant Uncertain significance rs886045474 GRCh37 Chromosome 1, 161274985: 161274985
11 MPZ NM_000530.7(MPZ): c.*681A> T single nucleotide variant Uncertain significance rs886045474 GRCh38 Chromosome 1, 161305195: 161305195
12 MPZ NM_000530.7(MPZ): c.*568C> G single nucleotide variant Likely benign rs60731755 GRCh37 Chromosome 1, 161275098: 161275098
13 MPZ NM_000530.7(MPZ): c.*568C> G single nucleotide variant Likely benign rs60731755 GRCh38 Chromosome 1, 161305308: 161305308
14 MPZ NM_000530.7(MPZ): c.*52G> A single nucleotide variant Uncertain significance rs774701563 GRCh37 Chromosome 1, 161275614: 161275614
15 MPZ NM_000530.7(MPZ): c.*52G> A single nucleotide variant Uncertain significance rs774701563 GRCh38 Chromosome 1, 161305824: 161305824
16 MPZ NM_000530.7(MPZ): c.504G> A (p.Val168=) single nucleotide variant Likely benign rs145592910 GRCh37 Chromosome 1, 161276199: 161276199
17 MPZ NM_000530.7(MPZ): c.504G> A (p.Val168=) single nucleotide variant Likely benign rs145592910 GRCh38 Chromosome 1, 161306409: 161306409
18 MPZ NM_000530.7(MPZ): c.-49C> A single nucleotide variant Uncertain significance rs750777955 GRCh37 Chromosome 1, 161279744: 161279744
19 MPZ NM_000530.7(MPZ): c.-49C> A single nucleotide variant Uncertain significance rs750777955 GRCh38 Chromosome 1, 161309954: 161309954
20 MPZ NM_000530.7(MPZ): c.*1020G> A single nucleotide variant Uncertain significance rs886045472 GRCh37 Chromosome 1, 161274646: 161274646
21 MPZ NM_000530.7(MPZ): c.*1020G> A single nucleotide variant Uncertain significance rs886045472 GRCh38 Chromosome 1, 161304856: 161304856
22 MPZ NM_000530.7(MPZ): c.*954C> A single nucleotide variant Uncertain significance rs372340608 GRCh37 Chromosome 1, 161274712: 161274712
23 MPZ NM_000530.7(MPZ): c.*954C> A single nucleotide variant Uncertain significance rs372340608 GRCh38 Chromosome 1, 161304922: 161304922
24 MPZ NM_000530.7(MPZ): c.*858T> C single nucleotide variant Uncertain significance rs886045473 GRCh37 Chromosome 1, 161274808: 161274808
25 MPZ NM_000530.7(MPZ): c.*858T> C single nucleotide variant Uncertain significance rs886045473 GRCh38 Chromosome 1, 161305018: 161305018
26 MPZ NM_000530.7(MPZ): c.*907_*910dupGAGA duplication Benign rs149030537 GRCh37 Chromosome 1, 161274756: 161274759
27 MPZ NM_000530.7(MPZ): c.*907_*910dupGAGA duplication Benign rs149030537 GRCh38 Chromosome 1, 161304966: 161304969
28 MPZ NM_000530.7(MPZ): c.*761A> G single nucleotide variant Benign rs16832786 GRCh37 Chromosome 1, 161274905: 161274905
29 MPZ NM_000530.7(MPZ): c.*761A> G single nucleotide variant Benign rs16832786 GRCh38 Chromosome 1, 161305115: 161305115
30 MPZ NM_000530.7(MPZ): c.*743C> T single nucleotide variant Likely benign rs140992541 GRCh37 Chromosome 1, 161274923: 161274923
31 MPZ NM_000530.7(MPZ): c.*743C> T single nucleotide variant Likely benign rs140992541 GRCh38 Chromosome 1, 161305133: 161305133
32 MPZ NM_000530.7(MPZ): c.*251C> G single nucleotide variant Uncertain significance rs772995394 GRCh37 Chromosome 1, 161275415: 161275415
33 MPZ NM_000530.7(MPZ): c.*251C> G single nucleotide variant Uncertain significance rs772995394 GRCh38 Chromosome 1, 161305625: 161305625
34 MPZ NM_000530.7(MPZ): c.*195G> T single nucleotide variant Likely benign rs150182811 GRCh37 Chromosome 1, 161275471: 161275471
35 MPZ NM_000530.7(MPZ): c.*195G> T single nucleotide variant Likely benign rs150182811 GRCh38 Chromosome 1, 161305681: 161305681
36 MPZ NM_000530.7(MPZ): c.*1074A> C single nucleotide variant Uncertain significance rs886045471 GRCh37 Chromosome 1, 161274592: 161274592
37 MPZ NM_000530.7(MPZ): c.*1074A> C single nucleotide variant Uncertain significance rs886045471 GRCh38 Chromosome 1, 161304802: 161304802
38 MPZ NM_000530.7(MPZ): c.*1048A> T single nucleotide variant Likely benign rs71639057 GRCh37 Chromosome 1, 161274618: 161274618
39 MPZ NM_000530.7(MPZ): c.*1048A> T single nucleotide variant Likely benign rs71639057 GRCh38 Chromosome 1, 161304828: 161304828
40 MPZ NM_000530.7(MPZ): c.*624C> T single nucleotide variant Benign rs60821801 GRCh37 Chromosome 1, 161275042: 161275042
41 MPZ NM_000530.7(MPZ): c.*624C> T single nucleotide variant Benign rs60821801 GRCh38 Chromosome 1, 161305252: 161305252
42 MPZ NM_000530.7(MPZ): c.515T> C (p.Leu172Pro) single nucleotide variant Uncertain significance rs886045475 GRCh37 Chromosome 1, 161276188: 161276188
43 MPZ NM_000530.7(MPZ): c.515T> C (p.Leu172Pro) single nucleotide variant Uncertain significance rs886045475 GRCh38 Chromosome 1, 161306398: 161306398
44 MPZ NM_000530.7(MPZ): c.77C> T (p.Pro26Leu) single nucleotide variant Likely benign rs530923760 GRCh37 Chromosome 1, 161277205: 161277205
45 MPZ NM_000530.7(MPZ): c.77C> T (p.Pro26Leu) single nucleotide variant Likely benign rs530923760 GRCh38 Chromosome 1, 161307415: 161307415
46 MPZ; SDHC NM_003001.3(SDHC): c.-38G> A single nucleotide variant Benign rs112556972 GRCh38 Chromosome 1, 161314368: 161314368
47 MPZ; SDHC NM_003001.3(SDHC): c.-38G> A single nucleotide variant Benign rs112556972 GRCh37 Chromosome 1, 161284158: 161284158
Sources

Expression for Roussy-Levy Hereditary Areflexic Dystasia

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

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

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

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

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

GO Terms for Roussy-Levy Hereditary Areflexic Dystasia

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

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 8.96 MPZ PMP22
2 myelination GO:0042552 8.62 MPZ PMP22
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Sources for Roussy-Levy Hereditary Areflexic Dystasia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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