Roussy-Levy Hereditary Areflexic Dystasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

ROULS MCID: RSS026 MIFTS: 55	Roussy-Levy Hereditary Areflexic Dystasia (ROULS) Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Roussy-Levy Hereditary Areflexic Dystasia

MalaCards integrated aliases for Roussy-Levy Hereditary Areflexic Dystasia:

Name: Roussy-Levy Hereditary Areflexic Dystasia ⁵⁷ ⁷⁵ ⁷³

Roussy-Levy Syndrome ⁵⁷ ⁵⁸ ⁷³ ¹² ⁵³ ³⁸ ⁷¹

Roussy-Lévy Syndrome ²⁸ ⁵ ⁷⁵

Charcot-Marie-Tooth Disease ¹⁹ ⁷¹

Hereditary Areflexic Dystasia, Roussy-Levy Type ⁵⁸

Hereditary Motor and Sensory Neuropathy Type I ⁷¹

Roussy Levy Hereditary Areflexic Dystasia ¹⁹

Charcot-Marie-Tooth-Roussy-Levy Disease ¹⁹

Hereditary Motor Sensory Neuropathy I ¹⁹

Hereditary Areflexic Dystasia ¹⁹

Roussy Levy Syndrome ¹⁹

Roussy-Levy Disease ¹⁹

Hmsn I ¹⁹

Rouls ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

Age Of Onset:

Roussy-Levy Syndrome: Childhood,Infancy ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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:

³⁰

roussy-levy hereditary areflexic dystasia:
Onset and clinical course slowly progressive

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the nervous system

Polyneuropathies and other disorders of the peripheral nervous system

Hereditary and idiopathic neuropathy

Hereditary motor and sensory neuropathy

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

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Summaries for Roussy-Levy Hereditary Areflexic Dystasia

GARD: ¹⁹ 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 genetic change in the myelin protein zero (MPZ) gene (genetic changes in this gene are also associated with CMT1B). Roussy Levy syndrome is inherited in an autosomal dominant manner.

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 2e, and has symptoms including tremor, back pain and headache. An important gene associated with Roussy-Levy Hereditary Areflexic Dystasia is MPZ (Myelin Protein Zero), and among its related pathways/superpathways are Neural crest differentiation and EGR2 and SOX10-mediated initiation of Schwann cell myelination. The drugs Folic acid and Lipoic acid have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skeletal muscle and tonsil, and related phenotypes are nystagmus and talipes equinovarus

Orphanet: ⁵⁸ A rare demyelinating hereditary motor and sensory neuropathy characterized by prominent gait ataxia, pes cavus, tendon areflexia, distal limb weakness, tremor in the upper limbs, distal sensory loss, kyphoscoliosis, and progressive muscle atrophy. The disease becomes symptomatic in infancy or childhood, mode of inheritance is autosomal dominant.

UniProtKB/Swiss-Prot: ⁷³ 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.

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 08-Dec-2022)

Wikipedia: ⁷⁵ Roussy-Lévy syndrome, also known as Roussy-Lévy areflexic dystasia, is a rare disorder of humans that... more...

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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 620)

#	Related Disease	Score	Top Affiliating Genes
1	charcot-marie-tooth disease and deafness	33.0	PMP22 MPZ
2	charcot-marie-tooth disease, axonal, type 2e	32.9	PMP22 MPZ
3	charcot-marie-tooth disease, demyelinating, type 1c	32.9	PMP22 MPZ
4	charcot-marie-tooth disease, demyelinating, type 1d	32.9	PMP22 MPZ
5	charcot-marie-tooth disease, demyelinating, type 1f	32.9	PMP22 MPZ
6	charcot-marie-tooth disease, type 4b3	32.8	PMP22 MPZ
7	charcot-marie-tooth disease type 1g	32.6	PMP22 MPZ
8	charcot-marie-tooth disease type x	32.4	PMP22 MPZ
9	charcot-marie-tooth disease, demyelinating, type 1b	31.5	PMP22 MPZ
10	charcot-marie-tooth disease, x-linked dominant, 1	31.4	PMP22 MPZ
11	charcot-marie-tooth disease	30.5	PMP22 MPZ
12	guillain-barre syndrome	30.4	PMP22 MPZ
13	polyradiculoneuropathy	30.4	PMP22 MPZ
14	carpal tunnel syndrome	30.3	PMP22 MPZ
15	neuropathy, hereditary, with liability to pressure palsies	30.2	PMP22 MPZ
16	diabetic neuropathy	30.2	PMP22 MPZ
17	neurilemmoma	30.2	PMP22 MPZ
18	sensory peripheral neuropathy	30.1	PMP22 MPZ
19	amyotrophic neuralgia	30.1	PMP22 MPZ
20	neuritis	30.1	PMP22 MPZ
21	neuropathy, congenital hypomyelinating, 1, autosomal recessive	30.1	PMP22 MPZ
22	neuropathy	30.0	PMP22 MPZ
23	tooth disease	30.0	PMP22 MPZ
24	hypomyelinating leukodystrophy	29.9	PMP22 MPZ
25	chronic inflammatory demyelinating polyradiculoneuropathy	29.9	PMP22 MPZ
26	nerve compression syndrome	29.9	PMP22 MPZ
27	demyelinating polyneuropathy	29.9	PMP22 MPZ
28	pelizaeus-merzbacher disease	29.8	PMP22 MPZ
29	charcot-marie-tooth disease, demyelinating, type 1a	29.8	PMP22 MPZ
30	neuromuscular disease	29.7	PMP22 MPZ
31	hereditary neuropathies	29.6	PMP22 MPZ
32	polyneuropathy	29.6	PMP22 MPZ
33	hypertrophic neuropathy of dejerine-sottas	29.5	PMP22 MPZ
34	peripheral nervous system disease	29.1	PMP22 MPZ
35	charcot-marie-tooth disease, axonal, type 2b1	12.2
36	charcot-marie-tooth disease, axonal, type 2b2	12.2
37	charcot-marie-tooth disease, type 4a	12.2
38	charcot-marie-tooth disease, type 4b1	12.2
39	charcot-marie-tooth disease, type 4b2	12.2
40	charcot-marie-tooth disease, dominant intermediate b	12.2
41	charcot-marie-tooth disease, axonal, type 2b	12.2
42	charcot-marie-tooth disease, axonal, type 2f	12.2
43	charcot-marie-tooth disease, axonal, type 2a1	12.1
44	charcot-marie-tooth disease, axonal, type 2k	12.1
45	charcot-marie-tooth disease, type 4k	12.1
46	charcot-marie-tooth disease, axonal, type 2p	12.1
47	charcot-marie-tooth disease, axonal, type 2d	12.1
48	charcot-marie-tooth disease, type 4d	12.1
49	charcot-marie-tooth disease, type 4h	12.1
50	charcot-marie-tooth disease, type 4j	12.1

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

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Symptoms & Phenotypes for Roussy-Levy Hereditary Areflexic Dystasia

Human phenotypes related to Roussy-Levy Hereditary Areflexic Dystasia:

⁵⁸ ³⁰ (show all 37)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	nystagmus ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000639
2	talipes equinovarus ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001762
3	kyphoscoliosis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002751
4	impaired pain sensation ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0007328
5	areflexia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001284
6	pes cavus ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001761
7	decreased motor nerve conduction velocity ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003431
8	gait ataxia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002066
9	impaired vibratory sensation ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002495
10	difficulty walking ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002355
11	unsteady gait ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002317
12	clumsiness ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002312
13	limb ataxia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002070
14	sensorimotor neuropathy ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0007141
15	postural tremor ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002174
16	lower limb muscle weakness ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0007340
17	acute demyelinating polyneuropathy ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0007131
18	genu valgum ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002857
19	babinski sign ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0003487
20	frequent falls ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002359
21	urinary bladder sphincter dysfunction ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002839
22	intrinsic hand muscle atrophy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0008954
23	distal amyotrophy ⁵⁸ ³⁰		Frequent (79-30%)	HP:0003693
24	scoliosis ⁵⁸		Frequent (79-30%)
25	skeletal muscle atrophy ⁵⁸		Occasional (29-5%)
26	motor delay ³⁰			HP:0001270
27	abnormality of the immune system ³⁰			HP:0002715
28	hyporeflexia ³⁰			HP:0001265
29	distal muscle weakness ³⁰			HP:0002460
30	hammertoe ³⁰			HP:0001765
31	sensory impairment ⁵⁸		Frequent (79-30%)
32	distal sensory impairment ³⁰			HP:0002936
33	decreased number of peripheral myelinated nerve fibers ³⁰			HP:0003380
34	segmental peripheral demyelination/remyelination ³⁰			HP:0003481
35	upper limb postural tremor ³⁰			HP:0007351
36	onion bulb formation ³⁰			HP:0003383
37	hypertrophic nerve changes ³⁰			HP:0003382

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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 08-Dec-2022)

UMLS symptoms related to Roussy-Levy Hereditary Areflexic Dystasia:

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

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Drugs & Therapeutics for Roussy-Levy Hereditary Areflexic Dystasia

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

(show top 50) (show all 58)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 4

59-30-3

6037

Lipoic acid

Approved, Investigational, Nutraceutical

Phase 4

1200-22-2

864 6112

Folate

Phase 4

Vitamins

Phase 4

Vitamin B9

Phase 4

Trace Elements

Phase 4

Vitamin B Complex

Phase 4

Micronutrients

Phase 4

Antioxidants

Phase 4

Protective Agents

Phase 4

Alpha-lipoic Acid

Phase 4

Acetylcarnitine

Approved, Investigational

Phase 2, Phase 3

3040-38-8

Baclofen

Approved

Phase 3

1134-47-0

2284

Sorbitol

Approved, Investigational

Phase 3

69-65-8, 50-70-4

453 6251 5780

Naltrexone

Approved, Investigational, Vet_approved

Phase 3

16590-41-3

5360515

Ethanol

Approved

Phase 3

64-17-5

702

Ascorbic acid

Approved, Nutraceutical

Phase 2, Phase 3

50-81-7

54676860 54670067 5785

(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium

Experimental

Phase 2, Phase 3

461-06-3

Nootropic Agents

Phase 2, Phase 3

Pharmaceutical Solutions

Phase 3

Cathartics

Phase 3

Neurotransmitter Agents

Phase 3

Laxatives

Phase 3

GABA Agonists

Phase 3

Gastrointestinal Agents

Phase 3

Narcotic Antagonists

Phase 3

Narcotics

Phase 3

Neuroprotective Agents

Phase 2, Phase 3

Epoetin Alfa

Phase 2, Phase 3

Hematinics

Phase 2, Phase 3

Mexiletine

Approved, Investigational

Phase 2

5370-01-4, 31828-71-4

4178

Biotin

Approved, Investigational, Nutraceutical

Phase 2

58-85-5

253 171548

Ubidecarenone

Approved, Investigational, Nutraceutical

Phase 1, Phase 2

303-98-0

5281915

Vitamin B7

Phase 2

Ubiquinone

Phase 1, Phase 2

Ulipristal acetate

Phase 2

126784-99-4

13559282 130904

Iron

Approved

7439-89-6

29936

Benzocaine

Approved, Investigational

1994-09-7, 94-09-7

2337

Tannic acid

Approved

1401-55-4

16129878 16129778

Ropivacaine

Approved

84057-95-4

71273 175805

Cholecalciferol

Approved, Nutraceutical, Vet_approved

67-97-0, 1406-16-2

5280795 10883523

Creatine

Approved, Investigational, Nutraceutical

57-00-1

586

Chitosan low molecular weight (20-200 mpa.s)

Experimental

14257-69-3, 9012-76-4

441477 71853

Analgesics

Calciferol

Calcium, Dietary

Insulin, Globin Zinc

Insulin

Immunosuppressive Agents

Immunologic Factors

Interventional clinical trials:

(show top 50) (show all 79)

#	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 and Safety of PXT3003 in Charcot-Marie-Tooth Type 1A (CMT1A) Treated 15 Months	Recruiting	NCT05092841	Phase 3	PXT3003;PXT3003 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	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)	Active, not recruiting	NCT04762758	Phase 3	(RS)-baclofen, naltrexone hydrochloride and D-sorbitol;Placebo
10	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
11	The Influence of Pronator Teres Release in the Treatment of Median Nerve Compression Neuropathy: A Randomized Prospective Study	Unknown status	NCT01562860	Phase 2
12	SERENDEM Study: MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study	Completed	NCT02967679	Phase 2	MD1003
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	Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease	Completed	NCT02561702	Phase 2	Mexiletine
15	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
16	Single Center, Open Label, Repeat Intramuscular Administration, 270 Days, Phase I/2a Clinical Trial to Evaluate Safety, Tolerability of Investigational Product (Engensis: VM202) With Charcot-Marie-Tooth Disease Subtype 1A (CMT1A)	Completed	NCT05361031	Phase 1, Phase 2
17	Phase 2 Study of Ascorbic Acid Treatment in Charcot-Marie-Tooth Type 1A	Completed	NCT00271635	Phase 2	Placebo;ascorbic acid
18	Neuropathy Along the Median Nerve: Etiology of Symptoms Associated With the Carpal Tunnel Syndrome, a Preliminary Study	Completed	NCT00634738	Phase 1, Phase 2
19	Phase I/IIa Trial Evaluating scAAV1.tMCK.NTF3 for Treatment of Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A)	Suspended	NCT03520751	Phase 1, Phase 2	scAAV1.tMCK.NTF3
20	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
21	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
22	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
23	LONG-TERM EFFECTS TOLERANCE AND THE Ulipristal Acetate IN DISEASE Charcot-MARIE-TOOTH TYPE OF 1A	Terminated	NCT02600286	Phase 2	EllaOne;EllaOne placebo
24	Open-label, Dose-escalation, Phase 1 Clinical Trial to Determine the Safety and Dose of EN001 in Patients With Charcot-Marie-Tooth Disease (CMT) Type 1A	Recruiting	NCT05333406	Phase 1	EN001
25	Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study	Unknown status	NCT03550300
26	Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT	Unknown status	NCT02979145
27	Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs	Unknown status	NCT01918826
28	The Feasibility and Effect of Ankle Foot Orthoses and Underfoot Vibration on the Postural Stability of People With Inherited Neuropathy	Unknown status	NCT03278093
29	Quantification of Nerve Stiffness in Patients With Peripheral Neuropathies	Unknown status	NCT03397303
30	BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease	Completed	NCT02982343
31	Survey of Current Management of Orthopaedic Complications in Charcot Marie Tooth Disease Patients	Completed	NCT02001038
32	Development and Validation of a Disability Severity Index for Charcot Marie Tooth Disease	Completed	NCT01455623
33	Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A	Completed	NCT01750710
34	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
35	Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies	Completed	NCT02788734
36	Noninvasive Assessment of Neuromuscular Disease Using Electrical Impedance	Completed	NCT02011204
37	Influence of Irisin on Muscle Quality in a Cohort of Charcot-Marie-Tooth Patients	Completed	NCT04786522
38	Clinical and Genetic Features of Familial Neuropathy	Completed	NCT00149045
39	An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients	Completed	NCT02429947
40	Biomarkers and Validation of Selected Outcome Measures (CMTNSmod)	Completed	NCT03386266
41	Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)	Completed	NCT02194010
42	An Open Observational Study of Clinical and Electrophysiological Outcomes in Male and Female Patients With CMT Type 1 & 2, and Aged-matched Healthy Controls	Completed	NCT04980807
43	MRI of the Brachial Plexus and Chronic Inflammatory Demyelinating Polyradiculoneuropathy: Assessment of DTI-derived Measurements at 3.0-T	Completed	NCT03460951
44	Efficacy of Keyhole Approach to Carpal Tunnel Syndrome Under Ambulatory	Completed	NCT03062722
45	Accuracy of Ultrasonography and Electromyography in the Diagnosis of Carpal Tunnel Syndrome	Completed	NCT02553811
46	Clinical Outcomes of Surgical Release Among Diabetic Patients With Carpal Tunnel Syndrome. A Prospective Study With Matched Controls	Completed	NCT00775333
47	Nociceptive Processing in Acute Cutaneous Nerve Entrapment Syndrome: a Quantitative Sensory Testing Analysis.	Completed	NCT01920880
48	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
49	The Management of Abdominal Cutaneous Nerve Entrapment Syndrome	Completed	NCT03574727
50	Evaluation of the Efficacy of High Intensity Laser (HILT) Therapy in Idiopathic Carpal Tunnel Syndrome	Completed	NCT04949373

Search NIH Clinical Center for Roussy-Levy Hereditary Areflexic Dystasia

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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 ²⁸	MPZ PMP22

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Anatomical Context for Roussy-Levy Hereditary Areflexic Dystasia

Organs/tissues related to Roussy-Levy Hereditary Areflexic Dystasia:

MalaCards : Spinal Cord, Skeletal Muscle, Tonsil, Dorsal Root Ganglion, Brain, Skin, Liver

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Publications for Roussy-Levy Hereditary Areflexic Dystasia

Articles related to Roussy-Levy Hereditary Areflexic Dystasia:

(show top 50) (show all 3526)

#	Title	Authors	PMID	Year
1	The Roussy-Lévy family: from the original description to the gene. ⁶² ⁵⁷ ⁵	Plante-Bordeneuve V...Said G	10553995	1999
2	Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2. ⁶² ⁵⁷ ⁵	Auer-Grumbach M...Fazekas F	9543325	1998
3	Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. ⁶² ⁵	Miltenberger-Miltenyi G...Janecke AR	19259128	2009
4	Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease. ⁶² ⁵	Meggouh F...Baas F	15786462	2005
5	Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. ⁶² ⁵	Wise CA...Lupski JR	8105684	1993
6	Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12. ⁶² ⁵	Upadhyaya M...Harper PS	8500795	1993
7	De-novo mutation in hereditary motor and sensory neuropathy type I. ⁶² ⁵	Hoogendijk JE...Baas F	1349106	1992
8	Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. ⁶² ⁵	Lupski JR...Patel PI	1301995	1992
9	Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families. ⁶² ⁵	MacMillan JC...Harper PS	1552536	1992
10	Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. ⁶² ⁵	Raeymaekers P...Van Broeckhoven C	1552545	1992
11	The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2. ⁶² ⁵	Hoogendijk JE...Bolhuis PA	1721895	1991
12	DNA duplication associated with Charcot-Marie-Tooth disease type 1A. ⁶² ⁵	Lupski JR...Patel PI	1677316	1991
13	Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. ⁶² ⁵	Raeymaekers P...Bolhuis PA	1822787	1991
14	Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy. ⁶² ⁵	Killian JM...Kloepfer HW	475348	1979
15	A kinship with the Roussy-Levy syndrome. ⁶² ⁵⁷	Yudell A...Lambert EH	5834704	1965
16	[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]. ⁶² ⁵⁷	LAPRESLE J	13360305	1956
17	Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy). ⁵⁷	Thomas PK...Stewart G	4467779	1974
18	Hereditary areflex dystasia; report on a family with Roussy-Lévy disease in Israel. ⁵⁷	ROZANSKI J	14863318	1951
19	THE BAR "GENE" A DUPLICATION. ⁵	Bridges CB	17796454	1936
20	A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome. ⁵³ ⁶²	Zubair S...Prodan CI	18592125	2008
21	[Roussy-Lévy syndrome with a duplication on peripheral myelin protein gene (PMP22)]. ⁵³ ⁶²	Wake Y...Shirabe T	11186918	2000
22	Evidence of nerve hypertrophy in patients with inclusion body myositis on lower limb MRI. ⁶²	Elmansy M...Yousry TA	36151728	2022
23	TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration. ⁶²	Chen X...Wu Y	35986567	2022
24	A SARM1-mitochondrial feedback loop drives neuropathogenesis in a Charcot-Marie-Tooth disease type 2A rat model. ⁶²	Sato-Yamada Y...Milbrandt J	36287202	2022
25	A new mouse model of Charcot-Marie-Tooth 2J neuropathy replicates human axonopathy and suggest alteration in axo-glia communication. ⁶²	Shackleford G...Wrabetz L	36350884	2022
26	No Association between the SORD Gene and Amyotrophic Lateral Sclerosis in a Chinese Cohort. ⁶²	Yilihamu M...Fan D	36431311	2022
27	A method to identify, dissect and stain equine neuromuscular junctions for morphological analysis. ⁶²	Cahalan SD...Piercy RJ	36087283	2022
28	The 2022 Lady Estelle Wolfson lectureship on neurofilaments. ⁶²	Petzold A	35950263	2022
29	Clinically relevant mouse models of Charcot-Marie-Tooth Type 2S. ⁶²	Martin PB...Cox GA	36413117	2022
30	Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1. ⁶²	Hines TJ...Burgess RW	34875719	2022
31	Autophagic lysosome reformation in health and disease. ⁶²	Nanayakkara R...McGrath MJ	36409033	2022
32	Young infants with PMP22 duplication can have minor nerve conduction study abnormalities. ⁶²	Davion JB...Nguyen The Tich S	36253232	2022
33	NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice. ⁶²	Jennings MJ...Horvath R	35148379	2022
34	A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease. ⁶²	Li M...Chen J	36394156	2022
35	Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease. ⁶²	Record CJ...Reilly MM	36376020	2022
36	Frequency, entity and determinants of fatigue in Charcot-Marie-Tooth disease. ⁶²	Bellofatto M...Italian CMT Network	36458502	2022
37	EGR2-related mixed demyelinating and axonal Charcot-Marie-Tooth disease: An electrodiagnostic, nerve imaging, and histological study. ⁶²	Chu XJ...Yuan Y	35770518	2022
38	Knock-in mouse models for CMTX1 show a loss of function phenotype in the peripheral nervous system. ⁶²	Abrams CK...Freidin MM	36403785	2022
39	Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice. ⁶²	Lenk GM...Meisler MH	36434903	2022
40	Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report. ⁶²	Huang X...Ma X	36397455	2022
41	Dynamin-2 deficiency causes age- and sex-dependent neutropenia and myelodysplasia in mice. ⁶²	Willis A...Chen Y	36417761	2022
42	A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy. ⁶²	Forrest ME...Antonellis A	36307205	2022
43	Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function. ⁶²	Lin SJ...Varshney GK	35815345	2022
44	Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy. ⁶²	Cipriani S...Bolino A	36260368	2022
45	Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study. ⁶²	Fridman V...Inherited Neuropathies Consortium-Rare Diseases Clinical Research Network	36203352	2022
46	Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H. ⁶²	El-Bazzal L...Bernard-Marissal N	36314052	2022
47	Stance and swing phase ankle phenotypes in youth with Charcot-Marie-Tooth type 1: An evaluation using comprehensive gait analysis techniques. ⁶²	Ounpuu S...Wren TAL	36179412	2022
48	Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients. ⁶²	Sun B...Huang XS	33587240	2022
49	WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly. ⁶²	Bogershausen N...Wollnik B	35790048	2022
50	Hereditary motor and sensory neuropathy with SOD1-mutant: A case report. ⁶²	Luo Z...Liang T	36316849	2022

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Genes for Roussy-Levy Hereditary Areflexic Dystasia

Genes related to Roussy-Levy Hereditary Areflexic Dystasia (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MPZ	Myelin Protein Zero	Protein Coding	1675	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵	10553995
2	PMP22	Peripheral Myelin Protein 22	Protein Coding	1385.13	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ Novoseek inferred ⁵³	1677316 475348 17796454 (more) 1822787 1721895 1552545 1349106 1552536 1301995 8500795 8105684 15786462 9543325 19259128 18592125 11186918

Sources

Variations for Roussy-Levy Hereditary Areflexic Dystasia

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

⁵ (show top 50) (show all 54)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	PMP22	PMP22, 1.4-MB DUP	DUP	Pathogenic	8427		GRCh37: GRCh38:
2	MPZ	NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)	SNV	Pathogenic	14191	rs121913603	GRCh37: 1:161276512-161276512 GRCh38: 1:161306722-161306722
3	MPZ	NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)	SNV	Pathogenic	14170	rs121913586	GRCh37: 1:161276204-161276204 GRCh38: 1:161306414-161306414
4	MPZ	NM_000530.8(MPZ):c.393C>A (p.Asn131Lys)	SNV	Pathogenic	14186	rs121913599	GRCh37: 1:161276553-161276553 GRCh38: 1:161306763-161306763
5	MPZ	NM_000530.8(MPZ):c.371C>T (p.Thr124Met)	SNV	Pathogenic	14181	rs121913595	GRCh37: 1:161276575-161276575 GRCh38: 1:161306785-161306785
6	PMP22	NM_000304.4(PMP22):c.434del (p.Leu145fs)	DEL	Pathogenic	217238	rs863225029	GRCh37: 17:15134283-15134283 GRCh38: 17:15230966-15230966
7	MPZ	NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)	SNV	Likely Pathogenic	462797	rs1553259648	GRCh37: 1:161276549-161276549 GRCh38: 1:161306759-161306759
8	MPZ	NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)	SNV	Likely Pathogenic	216963	rs754068936	GRCh37: 1:161276252-161276252 GRCh38: 1:161306462-161306462
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)	DUP	Likely Pathogenic	930962		GRCh37: 1:161276553-161276554 GRCh38: 1:161306763-161306764
12	MPZ	NM_000530.8(MPZ):c.173T>A (p.Val58Asp)	SNV	Likely Pathogenic	637777	rs1571820049	GRCh37: 1:161277109-161277109 GRCh38: 1:161307319-161307319
13	MPZ	NM_000530.8(MPZ):c.603dup (p.Leu202fs)	DUP	Uncertain Significance	931561		GRCh37: 1:161275939-161275940 GRCh38: 1:161306149-161306150
14	PMP22	NM_000304.4(PMP22):c.422T>G (p.Val141Gly)	SNV	Uncertain Significance	373965	rs1057518804	GRCh37: 17:15134295-15134295 GRCh38: 17:15230978-15230978
15	MPZ	NM_000530.8(MPZ):c.428C>T (p.Thr143Met)	SNV	Uncertain Significance	531684	rs750724650	GRCh37: 1:161276518-161276518 GRCh38: 1:161306728-161306728
16	MPZ	NM_000530.8(MPZ):c.186C>G (p.Ile62Met)	SNV	Uncertain Significance	14194	rs121913605	GRCh37: 1:161277096-161277096 GRCh38: 1:161307306-161307306
17	MPZ	NM_000530.8(MPZ):c.*954C>A	SNV	Uncertain Significance	293301	rs372340608	GRCh37: 1:161274712-161274712 GRCh38: 1:161304922-161304922
18	MPZ	NM_000530.8(MPZ):c.515T>C (p.Leu172Pro)	SNV	Uncertain Significance	293312	rs886045475	GRCh37: 1:161276188-161276188 GRCh38: 1:161306398-161306398
19	MPZ	NM_000530.8(MPZ):c.*681A>T	SNV	Uncertain Significance	293306	rs886045474	GRCh37: 1:161274985-161274985 GRCh38: 1:161305195-161305195
20	MPZ	NM_000530.8(MPZ):c.*1020G>A	SNV	Uncertain Significance	293300	rs886045472	GRCh37: 1:161274646-161274646 GRCh38: 1:161304856-161304856
21	MPZ	NM_000530.8(MPZ):c.*251C>G	SNV	Uncertain Significance	293309	rs772995394	GRCh37: 1:161275415-161275415 GRCh38: 1:161305625-161305625
22	PMP22	NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)	SNV	Uncertain Significance	462781	rs1022583382	GRCh37: 17:15134239-15134239 GRCh38: 17:15230922-15230922
23	PMP22	NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)	SNV	Uncertain Significance	188195	rs756046682	GRCh37: 17:15142922-15142922 GRCh38: 17:15239605-15239605
24	MPZ	NM_000530.8(MPZ):c.*102C>T	SNV	Uncertain Significance	874516	rs774748921	GRCh37: 1:161275564-161275564 GRCh38: 1:161305774-161305774
25	MPZ	NM_000530.8(MPZ):c.184A>G (p.Ile62Val)	SNV	Uncertain Significance	875495	rs121913602	GRCh37: 1:161277098-161277098 GRCh38: 1:161307308-161307308
26	MPZ	NM_000530.8(MPZ):c.*752G>A	SNV	Uncertain Significance	876373	rs533147214	GRCh37: 1:161274914-161274914 GRCh38: 1:161305124-161305124
27	MPZ	NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)	SNV	Uncertain Significance	246524	rs200151353	GRCh37: 1:161277149-161277149 GRCh38: 1:161307359-161307359
28	MPZ	NM_000530.8(MPZ):c.200G>A (p.Arg67His)	SNV	Uncertain Significance	237875	rs201720099	GRCh37: 1:161277082-161277082 GRCh38: 1:161307292-161307292
29	MPZ	NM_000530.8(MPZ):c.*369C>T	SNV	Uncertain Significance	876415	rs1359055917	GRCh37: 1:161275297-161275297 GRCh38: 1:161305507-161305507
30	MPZ	NM_000530.8(MPZ):c.*903G>A	SNV	Uncertain Significance	876254	rs1489097338	GRCh37: 1:161274763-161274763 GRCh38: 1:161304973-161304973
31	MPZ	NM_000530.8(MPZ):c.*435T>G	SNV	Uncertain Significance	875384	rs868502674	GRCh37: 1:161275231-161275231 GRCh38: 1:161305441-161305441
32	MPZ	NM_000530.8(MPZ):c.*522C>A	SNV	Uncertain Significance	875383	rs900816889	GRCh37: 1:161275144-161275144 GRCh38: 1:161305354-161305354
33	MPZ	NM_000530.8(MPZ):c.*341A>G	SNV	Uncertain Significance	874466	rs557613782	GRCh37: 1:161275325-161275325 GRCh38: 1:161305535-161305535
34	MPZ	NM_000530.8(MPZ):c.444A>T (p.Glu148Asp)	SNV	Uncertain Significance	873574	rs1670257548	GRCh37: 1:161276502-161276502 GRCh38: 1:161306712-161306712
35	MPZ	NM_000530.8(MPZ):c.*858T>C	SNV	Uncertain Significance	293303	rs886045473	GRCh37: 1:161274808-161274808 GRCh38: 1:161305018-161305018
36	MPZ	NM_000530.8(MPZ):c.*1074A>C	SNV	Uncertain Significance	293298	rs886045471	GRCh37: 1:161274592-161274592 GRCh38: 1:161304802-161304802
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, SDHC	NM_003001.5(SDHC):c.-38G>A	SNV	Benign	368837	rs112556972	GRCh37: 1:161284158-161284158 GRCh38: 1:161314368-161314368
40	MPZ	NM_000530.8(MPZ):c.684C>T (p.Ser228=)	SNV	Benign	129619	rs34307129	GRCh37: 1:161275729-161275729 GRCh38: 1:161305939-161305939
41	MPZ	NM_000530.8(MPZ):c.*360C>G	SNV	Benign	876416	rs6682046	GRCh37: 1:161275306-161275306 GRCh38: 1:161305516-161305516
42	MPZ	NM_000530.8(MPZ):c.*624C>T	SNV	Benign	293307	rs60821801	GRCh37: 1:161275042-161275042 GRCh38: 1:161305252-161305252
43	MPZ	NM_000530.8(MPZ):c.*901GA[7]	MICROSAT	Benign	293302	rs149030537	GRCh37: 1:161274755-161274756 GRCh38: 1:161304965-161304966
44	MPZ	NM_000530.8(MPZ):c.*568C>G	SNV	Benign	293308	rs60731755	GRCh37: 1:161275098-161275098 GRCh38: 1:161305308-161305308
45	MPZ	NM_000530.8(MPZ):c.*195G>T	SNV	Benign	293310	rs150182811	GRCh37: 1:161275471-161275471 GRCh38: 1:161305681-161305681
46	MPZ	NM_000530.8(MPZ):c.-49C>A	SNV	Benign	293315	rs750777955	GRCh37: 1:161279744-161279744 GRCh38: 1:161309954-161309954
47	MPZ	NM_000530.8(MPZ):c.*761A>G	SNV	Benign	293304	rs16832786	GRCh37: 1:161274905-161274905 GRCh38: 1:161305115-161305115
48	MPZ	NM_000530.8(MPZ):c.*743C>T	SNV	Benign	293305	rs140992541	GRCh37: 1:161274923-161274923 GRCh38: 1:161305133-161305133
49	MPZ	NM_000530.8(MPZ):c.*52G>A	SNV	Benign	293311	rs774701563	GRCh37: 1:161275614-161275614 GRCh38: 1:161305824-161305824
50	MPZ	NM_000530.8(MPZ):c.*1048A>T	SNV	Benign	293299	rs71639057	GRCh37: 1:161274618-161274618 GRCh38: 1:161304828-161304828

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

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

Sources

Pathways for Roussy-Levy Hereditary Areflexic Dystasia

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

#	Super pathways	Score	Top Affiliating Genes
1	Neural crest differentiation ⁷⁴	11.16	PMP22 MPZ
2	EGR2 and SOX10-mediated initiation of Schwann cell myelination ⁶⁶	10.4	PMP22 MPZ
3	Intracellular trafficking proteins involved in CMT neuropathy ⁷⁴	10.05	PMP22 MPZ