MCID: RSS002
MIFTS: 38

Roussy-Levy Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Roussy-Levy Syndrome

About this section


NIH Rare Diseases:41 Roussy levy syndrome is an autosomal dominant disease with the clinical characteristics of charcot-marie-tooth (cmt) disease type 1 plus a static tremor in the hands and gait ataxia.  the disease usually begins in infancy and is benign until adolescence. it is characterized by severe alterations in nerve conduction and sensory dysfunction. roussy levy syndrome may result from the classic cmt1a pmp22 duplication or a heterozygous mutation in the myelin protein zero (mpz) gene (mutations in this gene are also associated with cmt1b). treatment is symptomatic and supportive. last updated: 5/25/2011

MalaCards based summary: Roussy-Levy Syndrome, also known as roussy-lévy syndrome, is related to charcot-marie-tooth disease, type 1a and hereditary neuropathies, and has symptoms including decreased nerve conduction velocity, gait disturbance and reduced tendon reflexes. An important gene associated with Roussy-Levy Syndrome is MPZ (myelin protein zero), and among its related pathways is Neural Crest Differentiation. The compounds dihydroprogesterone and dihydrotestosterone have been mentioned in the context of this disorder.

Description from OMIM:45 180800

Aliases & Classifications for Roussy-Levy Syndrome

About this section
Sources:
45OMIM, 10diseasecard, 43Novoseek, 60UMLS, 41NIH Rare Diseases, 47Orphanet, 20GeneTests, 22GTR, 61UMLS via Orphanet, 26ICD10 via Orphanet
See all sources

Roussy-Levy Syndrome, Aliases & Descriptions:

Name: Roussy-Levy Syndrome 45 10 43 60
Roussy-Lévy Syndrome 41 20 47 22
Hereditary Areflexic Dystasia, Roussy-Lévy Type 41 47
Charcot-Marie-Tooth Disease 41 60
Hereditary Motor and Sensory Neuropathy Type I 60
Roussy Levy Hereditary Areflexic Dystasia 41
Roussy-Levy Hereditary Areflexic Dystasia 45
Charcot-Marie-Tooth-Roussy-Levy Disease 41
 
Hereditary Motor Sensory Neuropathy I 41
Charcot-Marie-Tooth Disease, Type Ib 60
Hereditary Areflexic Dystasia 41
Roussy Levy Syndrome 41
Roussy-Levy Disease 41
Hmsn Type I 43
Hmsn I 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


External Ids:

OMIM45 180800
Orphanet47 3115
UMLS via Orphanet61 C0205713
ICD10 via Orphanet26 G60.0

Related Diseases for Roussy-Levy Syndrome

About this section

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

(show top 50)    (show all 208)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease, type 1a32.1PMP22, CMT1A
2hereditary neuropathies31.5MPZ, PMP22
3charcot-marie-tooth disease, type 1e31.4PMP22, CMT1A
4neuropathy, congenital hypomyelinating31.4PMP22, MPZ
5charcot-marie-tooth disease31.0MPZ, PMP22
6polyneuropathy31.0MPZ, PMP22
7pelizaeus-merzbacher disease30.9MPZ
8dejerine-sottas disease30.6PMP22, MPZ
9neuropathy30.6MPZ, PMP22
10charcot-marie-tooth neuropathy type 130.6PMP22, MPZ
11tooth disease30.6PMP22, MPZ
12neuritis30.4MPZ, PMP22
13myopathy30.4MPZ, PMP22
14charcot-marie-tooth disease, type 1b11.1
15charcot-marie-tooth disease, type 2e11.0
16charcot-marie-tooth disease, type 2b10.9
17charcot-marie-tooth disease, type 2d10.9
18charcot-marie-tooth disease, type 4c10.9
19charcot-marie-tooth disease, type 4a10.9
20charcot-marie-tooth disease, type 2b210.9
21charcot-marie-tooth disease, type 2b110.9
22charcot-marie-tooth disease, type 1c10.9
23hereditary neuropathy with liability to pressure palsy10.9
24x-linked charcot-marie-tooth disease type 510.9
25charcot-marie-tooth disease, type 4b110.9
26charcot-marie-tooth disease, type 2j10.9
27charcot-marie-tooth disease, type 1d10.9
28autosomal dominant intermediate charcot-marie-tooth disease type e10.9
29charcot-marie-tooth disease, type 2i10.8
30charcot-marie-tooth disease type 2a10.8
31charcot-marie-tooth disease type 2g10.8
32charcot-marie-tooth disease, type 4d10.8
33charcot-marie-tooth disease, type 4b210.8
34charcot-marie-tooth disease, type 4h10.8
35charcot-marie-tooth disease, type 1f10.8
36charcot-marie-tooth disease type 2c10.8
37charcot-marie-tooth disease type 2f10.8
38charcot-marie-tooth disease, type 2a110.8
39charcot-marie-tooth disease type 2h10.8
40charcot-marie-tooth disease type 2k10.8
41charcot-marie-tooth disease, type 2a210.8
42charcot-marie-tooth disease, type 4j10.8
43charcot-marie-tooth disease, recessive intermediate, a10.8
44charcot-marie-tooth disease, type 4f10.8
45peripheral neuropathy10.8
46charcot-marie-tooth disease x-linked 110.8
47charcot-marie-tooth disease, x-linked recessive, 510.7
48charcot-marie-tooth neuropathy, x-linked recessive, 210.7
49charcot-marie-tooth neuropathy, x-linked recessive, 310.7
50neuropathy, hereditary motor and sensory, russe type10.7

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



Diseases related to roussy-levy syndrome

Symptoms for Roussy-Levy Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

180800

Clinical features from OMIM:

180800

Symptoms:

 47
  • nerve conduction abnormality
  • abnormal gait
  • movement disorder
  • areflexia/hyporeflexia
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • autosomal recessive inheritance

HPO human phenotypes related to Roussy-Levy Syndrome:

(show all 25)
id Description Frequency HPO Source Accession
1 decreased nerve conduction velocity hallmark (90%) HP:0000762
2 gait disturbance hallmark (90%) HP:0001288
3 reduced tendon reflexes hallmark (90%) HP:0001315
4 amyotrophy hallmark (90%) HP:0003202
5 autosomal dominant inheritance HP:0000006
6 hyporeflexia HP:0001265
7 motor delay HP:0001270
8 areflexia HP:0001284
9 pes cavus HP:0001761
10 hammertoe HP:0001765
11 gait ataxia HP:0002066
12 action tremor HP:0002345
13 distal muscle weakness HP:0002460
14 abnormality of the immune system HP:0002715
15 kyphoscoliosis HP:0002751
16 distal sensory impairment HP:0002936
17 decreased number of peripheral myelinated nerve fibers HP:0003380
18 hypertrophic nerve changes HP:0003382
19 onion bulb formation HP:0003383
20 decreased motor nerve conduction velocity HP:0003431
21 segmental peripheral demyelination/remyelination HP:0003481
22 juvenile onset HP:0003621
23 slow progression HP:0003677
24 distal amyotrophy HP:0003693
25 upper limb postural tremor HP:0007351

Drugs & Therapeutics for Roussy-Levy Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Roussy-Levy Syndrome

Search NIH Clinical Center for Roussy-Levy Syndrome

Genetic Tests for Roussy-Levy Syndrome

About this section

Genetic tests related to Roussy-Levy Syndrome:

id Genetic test Affiliating Genes
1 Roussy-Levy Syndrome20 MPZ
2 Roussy-Lévy Syndrome22

Anatomical Context for Roussy-Levy Syndrome

About this section

Animal Models for Roussy-Levy Syndrome or affiliated genes

About this section

Publications for Roussy-Levy Syndrome

About this section

Articles related to Roussy-Levy Syndrome:

idTitleAuthorsYear
1
A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome. (18592125)
2008
2
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

Variations for Roussy-Levy Syndrome

About this section

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

62
id Symbol AA change Variation ID SNP ID
1MPZp.Asn131LysVAR_015978

Clinvar genetic disease variations for Roussy-Levy Syndrome:

6 (show all 30)
id Gene Variation Type Significance SNP ID Assembly Location
1MPZNM_000530.6(MPZ): c.286A> G (p.Lys96Glu)single nucleotide variantPathogenicrs121913583GRCh37Chr 1, 161276660: 161276660
2MPZNM_000530.6(MPZ): c.270C> A (p.Asp90Glu)single nucleotide variantPathogenicrs121913584GRCh37Chr 1, 161276676: 161276676
3MPZNM_000530.6(MPZ): c.404T> C (p.Ile135Thr)single nucleotide variantPathogenicrs121913587GRCh37Chr 1, 161276542: 161276542
4MPZNM_000530.6(MPZ): c.409G> A (p.Gly137Ser)single nucleotide variantPathogenicrs121913588GRCh37Chr 1, 161276537: 161276537
5MPZNM_000530.6(MPZ): c.293G> C (p.Arg98Pro)single nucleotide variantPathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
6MPZNM_000530.6(MPZ): c.292C> T (p.Arg98Cys)single nucleotide variantPathogenicrs121913590GRCh37Chr 1, 161276654: 161276654
7MPZNM_000530.6(MPZ): c.293G> A (p.Arg98His)single nucleotide variantPathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
8MPZNM_000530.6(MPZ): c.188C> T (p.Ser63Phe)single nucleotide variantPathogenicrs121913585GRCh37Chr 1, 161277094: 161277094
9MPZNM_000530.6(MPZ): c.242A> G (p.His81Arg)single nucleotide variantPathogenicrs121913594GRCh37Chr 1, 161276704: 161276704
10MPZNM_000530.6(MPZ): c.371C> T (p.Thr124Met)single nucleotide variantPathogenicrs121913595GRCh37Chr 1, 161276575: 161276575
11MPZNM_000530.6(MPZ): c.393C> A (p.Asn131Lys)single nucleotide variantPathogenicrs121913599GRCh37Chr 1, 161276553: 161276553
12MPZNM_000530.6(MPZ): c.308G> A (p.Gly103Glu)single nucleotide variantPathogenicrs121913600GRCh37Chr 1, 161276638: 161276638
13MPZNM_000530.6(MPZ): c.434A> C (p.Tyr145Ser)single nucleotide variantPathogenicrs121913603GRCh37Chr 1, 161276512: 161276512
14MPZNM_000530.6(MPZ): c.367G> A (p.Gly123Ser)single nucleotide variantPathogenicrs121913608GRCh37Chr 1, 161276579: 161276579
15MPZNM_000530.6(MPZ): c.89T> C (p.Ile30Thr)single nucleotide variantPathogenicrs281865121GRCh37Chr 1, 161277193: 161277193
16MPZNM_000530.6(MPZ): c.175T> A (p.Ser59Thr)single nucleotide variantPathogenicrs281865122GRCh37Chr 1, 161277107: 161277107
17MPZNM_000530.6(MPZ): c.241C> T (p.His81Tyr)single nucleotide variantPathogenicrs281865123GRCh37Chr 1, 161276705: 161276705
18MPZNM_000530.6(MPZ): c.244T> C (p.Tyr82His)single nucleotide variantPathogenicrs281865124GRCh37Chr 1, 161276702: 161276702
19MPZNM_000530.6(MPZ): c.266T> C (p.Ile89Thr)single nucleotide variantPathogenicrs267607244GRCh37Chr 1, 161276680: 161276680
20MPZNM_000530.6(MPZ): c.306delA (p.Asp104Thrfs)deletionPathogenicrs281865125GRCh37Chr 1, 161276640: 161276640
21MPZNM_000530.6(MPZ): c.337G> T (p.Val113Phe)single nucleotide variantPathogenicrs281865126GRCh37Chr 1, 161276609: 161276609
22MPZNM_000530.6(MPZ): c.389A> G (p.Lys130Arg)single nucleotide variantPathogenicrs281865127GRCh37Chr 1, 161276557: 161276557
23MPZNM_000530.6(MPZ): c.487G> C (p.Gly163Arg)single nucleotide variantPathogenicrs281865128GRCh37Chr 1, 161276216: 161276216
24MPZNM_000530.6(MPZ): c.588dupT (p.Met197Tyrfs)duplicationPathogenicrs281865129GRCh37Chr 1, 161275954: 161275955
25MPZNM_000530.6(MPZ): c.670G> T (p.Asp224Tyr)single nucleotide variantPathogenicrs267607247GRCh37Chr 1, 161275743: 161275743
26MPZNM_000530.6(MPZ): c.164G> T (p.Ser55Ile)single nucleotide variantPathogenicrs281865133GRCh37Chr 1, 161277118: 161277118
27MPZNM_000530.6(MPZ): c.347A> G (p.Asn116Ser)single nucleotide variantPathogenicrs281865130GRCh37Chr 1, 161276599: 161276599
28MPZNM_000530.6(MPZ): c.645+1G> Tsingle nucleotide variantPathogenicrs281865131GRCh37Chr 1, 161275897: 161275897
29MPZNM_000530.6(MPZ): c.649C> T (p.Pro217Ser)single nucleotide variantPathogenicrs281865132GRCh37Chr 1, 161275764: 161275764
30PMP22PMP22, 1.4-MB DUPduplicationPathogenic

Expression for genes affiliated with Roussy-Levy Syndrome

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

Pathways for genes affiliated with Roussy-Levy Syndrome

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3MPZ, PMP22

Compounds for genes affiliated with Roussy-Levy Syndrome

About this section
Sources:
43Novoseek, 28IUPHAR, 24HMDB, 12DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1dihydroprogesterone439.3MPZ, PMP22
2dihydrotestosterone43 28 24 1212.3MPZ, PMP22
3ganglioside439.2MPZ, PMP22
4cysteine438.5CHM, MPZ, PMP22

GO Terms for genes affiliated with Roussy-Levy Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1synaptic transmissionGO:00072689.3MPZ, PMP22

Products for genes affiliated with Roussy-Levy Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Roussy-Levy Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet