HMSNR
MCID: NRP010
MIFTS: 36

Neuropathy, Hereditary Motor and Sensory, Russe Type (HMSNR)

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

Aliases & Classifications for Neuropathy, Hereditary Motor and Sensory, Russe Type

MalaCards integrated aliases for Neuropathy, Hereditary Motor and Sensory, Russe Type:

Name: Neuropathy, Hereditary Motor and Sensory, Russe Type 57 20 73 29 13 6 39 71
Hmsnr 57 12 20 58 73
Cmt4g 57 12 20 58 73
Charcot-Marie-Tooth Disease Type 4g 12 58 73 15
Hereditary Motor and Sensory Neuropathy, Russe Type 57 20 58
Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4g 57 20
Charcot-Marie-Tooth Neuropathy Type 4g 12 73
Charcot-Marie-Tooth Disease, Type 4g 57 20
Autosomal Recessive Charcot-Marie-Tooth Disease Type 4g 12
Charcot-Marie-Tooth Disease Autosomal Recessive Type 4g 73
Hereditary Motor and Sensory Neuropathy Russe Type 12
Charcot-Marie-Tooth Disease, Type 4g; Cmt4g 57
Charcot-Marie-Tooth Neuropathy, Type 4g 57

Characteristics:

Orphanet epidemiological data:

58
charcot-marie-tooth disease type 4g
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
age of onset of distal lower limb weakness 8-16 years
age of onset of upper limb involvement 10-43 years
described in individuals of roma gypsy origin (founder mutation)


HPO:

31
neuropathy, hereditary motor and sensory, russe type:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110196
OMIM® 57 605285
OMIM Phenotypic Series 57 PS118220
MeSH 44 D015417
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C1854449
Orphanet 58 ORPHA99953
MedGen 41 C1854449
UMLS 71 C1854449

Summaries for Neuropathy, Hereditary Motor and Sensory, Russe Type

OMIM® : 57 HMSNR is an autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy (summary by Sevilla et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive hereditary motor and sensory neuropathy, also known as Charcot-Marie-Tooth disease, see CMT4A (214400). (605285) (Updated 05-Mar-2021)

MalaCards based summary : Neuropathy, Hereditary Motor and Sensory, Russe Type, also known as hmsnr, is related to sensory peripheral neuropathy and neuropathy, congenital hypomyelinating, 1, autosomal recessive. An important gene associated with Neuropathy, Hereditary Motor and Sensory, Russe Type is HK1 (Hexokinase 1), and among its related pathways/superpathways is HIF-1-alpha transcription factor network. Related phenotypes are areflexia and decreased motor nerve conduction velocity

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 4 that has material basis in homozygous mutation in the HK1 gene on chromosome 10q22.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 99953DefinitionCharcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 73 Neuropathy, hereditary motor and sensory, Russe type: An autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy.

Related Diseases for Neuropathy, Hereditary Motor and Sensory, Russe Type

Diseases related to Neuropathy, Hereditary Motor and Sensory, Russe Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 sensory peripheral neuropathy 29.8 NDRG1 GDAP1 EGR2
2 neuropathy, congenital hypomyelinating, 1, autosomal recessive 29.4 SH3TC2 RILP RAB28 NDRG1 MED25 HK1
3 tooth disease 29.0 SH3TC2 NDRG1 MED25 GDAP1 EGR2
4 neuropathy 28.9 SH3TC2 NMSR MED25 HK1 GDAP1 EGR2
5 charcot-marie-tooth disease 28.3 SH3TC2 RILP NDRG1 MED25 HK1 GDAP1
6 charcot-marie-tooth disease, dominant intermediate e 10.1 SH3TC2 GDAP1
7 charcot-marie-tooth disease intermediate type 10.1 SH3TC2 GDAP1
8 charcot-marie-tooth disease, type 4b3 10.1 SH3TC2 GDAP1
9 charcot-marie-tooth disease, dominant intermediate b 10.1 SH3TC2 GDAP1
10 hereditary motor and sensory neuropathy, type iic 10.1 SH3TC2 GDAP1
11 charcot-marie-tooth disease, axonal, type 2t 10.0 SH3TC2 GDAP1
12 charcot-marie-tooth disease, type 4h 10.0 SH3TC2 GDAP1
13 pupil disease 10.0 GDAP1 EGR2
14 argyll robertson pupil 10.0 GDAP1 EGR2
15 abnormal pupillary function 10.0 GDAP1 EGR2
16 charcot-marie-tooth disease, axonal, type 2d 10.0 SH3TC2 GDAP1
17 charcot-marie-tooth disease, type 4j 10.0 SH3TC2 GDAP1
18 charcot-marie-tooth disease, type 4c 9.9 SH3TC2 NDRG1 GDAP1
19 autosomal recessive disease 9.9
20 charcot-marie-tooth disease, axonal, type 2i 9.9 SH3TC2 MED25 GDAP1
21 charcot-marie-tooth disease, type 4b1 9.9 SH3TC2 GDAP1
22 charcot-marie-tooth disease, axonal, type 2b2 9.9 MED25 GDAP1
23 charcot-marie-tooth disease, axonal, type 2j 9.9 SH3TC2 GDAP1 EGR2
24 charcot-marie-tooth disease type x 9.9 SH3TC2 GDAP1 EGR2
25 charcot-marie-tooth disease, demyelinating, type 4f 9.9 SH3TC2 GDAP1 EGR2
26 charcot-marie-tooth disease, x-linked dominant, 1 9.9 SH3TC2 GDAP1 EGR2
27 charcot-marie-tooth disease, type 4a 9.9 SH3TC2 GDAP1 EGR2
28 charcot-marie-tooth disease, demyelinating, type 1d 9.9 NDRG1 GDAP1 EGR2
29 charcot-marie-tooth disease, demyelinating, type 1b 9.9 SH3TC2 GDAP1 EGR2
30 charcot-marie-tooth disease, type 4b2 9.8 SH3TC2 GDAP1 EGR2
31 charcot-marie-tooth disease, axonal, type 2b 9.8 SH3TC2 RILP GDAP1
32 charcot-marie-tooth disease, type 4d 9.7 SH3TC2 NDRG1 GDAP1 EGR2
33 charcot-marie-tooth disease, demyelinating, type 1c 9.7 SH3TC2 NDRG1 GDAP1 EGR2
34 charcot-marie-tooth disease, demyelinating, type 1a 9.7 SH3TC2 NDRG1 GDAP1 EGR2
35 neuromuscular disease 9.6 SH3TC2 NDRG1 GDAP1 EGR2
36 peripheral nervous system disease 9.5 SH3TC2 GDAP1 EGR2
37 neuropathy, hereditary, with liability to pressure palsies 9.4 SH3TC2 NDRG1 MED25 GDAP1 EGR2
38 hypertrophic neuropathy of dejerine-sottas 9.4 SH3TC2 NDRG1 MED25 GDAP1 EGR2
39 charcot-marie-tooth disease and deafness 9.4 SH3TC2 NDRG1 MED25 GDAP1 EGR2
40 charcot-marie-tooth disease, axonal, type 2e 9.1 SH3TC2 RILP NDRG1 MED25 GDAP1 EGR2

Graphical network of the top 20 diseases related to Neuropathy, Hereditary Motor and Sensory, Russe Type:



Diseases related to Neuropathy, Hereditary Motor and Sensory, Russe Type

Symptoms & Phenotypes for Neuropathy, Hereditary Motor and Sensory, Russe Type

Human phenotypes related to Neuropathy, Hereditary Motor and Sensory, Russe Type:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 areflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001284
2 decreased motor nerve conduction velocity 58 31 hallmark (90%) Very frequent (99-80%) HP:0003431
3 impaired vibratory sensation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002495
4 distal lower limb muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009053
5 demyelinating peripheral neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007108
6 distal sensory impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002936
7 peripheral axonal neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003477
8 distal sensory loss of all modalities 58 31 hallmark (90%) Very frequent (99-80%) HP:0006984
9 peripheral demyelination 58 31 hallmark (90%) Very frequent (99-80%) HP:0011096
10 motor conduction block 58 31 hallmark (90%) Very frequent (99-80%) HP:0012078
11 decreased distal sensory nerve action potential 58 31 hallmark (90%) Very frequent (99-80%) HP:0007230
12 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
13 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
14 distal amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003693
15 proximal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003701
16 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
17 abnormality of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0001155
18 distal upper limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0008959
19 lower limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007210
20 upper limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009129
21 impaired tactile sensation 58 31 frequent (33%) Frequent (79-30%) HP:0010830
22 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
23 impaired pain sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007328
24 gait imbalance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002141
25 progressive inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002505
26 pes valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0008081
27 abnormality of the foot 58 Very frequent (99-80%)
28 peripheral neuropathy 31 HP:0009830
29 hyporeflexia 31 HP:0001265
30 paralysis 31 HP:0003470
31 distal muscle weakness 31 HP:0002460
32 decreased number of large peripheral myelinated nerve fibers 31 HP:0003387
33 peripheral hypomyelination 31 HP:0007182
34 abnormal foot morphology 31 HP:0001760
35 axonal regeneration 31 HP:0003450

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Peripheral Nervous System:
hyporeflexia
difficulty walking
thin myelin sheaths
prominent sensory loss, distal
distal limb weakness
more
Skeletal Spine:
scoliosis (in some patients)

Skeletal Hands:
hand deformity

Muscle Soft Tissue:
distal muscle weakness
proximal lower limb muscle weakness, later (in some patients)

Skeletal Feet:
foot deformity

Clinical features from OMIM®:

605285 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Neuropathy, Hereditary Motor and Sensory, Russe Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.23 EGR2 GDAP1 MED25 NDRG1 RAB28 SH3TC2

Drugs & Therapeutics for Neuropathy, Hereditary Motor and Sensory, Russe Type

Search Clinical Trials , NIH Clinical Center for Neuropathy, Hereditary Motor and Sensory, Russe Type

Genetic Tests for Neuropathy, Hereditary Motor and Sensory, Russe Type

Genetic tests related to Neuropathy, Hereditary Motor and Sensory, Russe Type:

# Genetic test Affiliating Genes
1 Neuropathy, Hereditary Motor and Sensory, Russe Type 29 HK1

Anatomical Context for Neuropathy, Hereditary Motor and Sensory, Russe Type

Publications for Neuropathy, Hereditary Motor and Sensory, Russe Type

Articles related to Neuropathy, Hereditary Motor and Sensory, Russe Type:

(show all 11)
# Title Authors PMID Year
1
A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR). 61 57 6
19536174 2009
2
Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. 6 57
22978647 2013
3
A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23. 61 57
10915613 2000
4
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. 57
17470135 2007
5
Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11. 57
15744041 2005
6
Neuromuscular disorders in the Gypsy ethnic group. A short review. 57
12966699 2003
7
Hereditary motor and sensory neuropathy-russe: new autosomal recessive neuropathy in Balkan Gypsies. 57
11601496 2001
8
Antibacterial Activity and Anti-Quorum Sensing Mediated Phenotype in Response to Essential Oil from Melaleuca bracteata Leaves. 61
31739398 2019
9
HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL. 61
26822750 2016
10
[Screening for hereditary neuromuscular disorders with molecular genetic methods in the Roma population of Hungary]. 61
19070320 2008
11
Refined mapping of the HMSNR critical gene region--construction of a high-density integrated genetic and physical map. 61
14561496 2003

Variations for Neuropathy, Hereditary Motor and Sensory, Russe Type

ClinVar genetic disease variations for Neuropathy, Hereditary Motor and Sensory, Russe Type:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HK1 NM_033500.2(HK1):c.-390-3818G>C SNV Pathogenic 40213 rs397514654 10:71038467-71038467 10:69278711-69278711
2 HK1 NM_033500.2(HK1):c.-390-3838G>C SNV Pathogenic 208363 rs797044964 10:71038447-71038447 10:69278691-69278691
3 HK1 NM_033500.2(HK1):c.-141A>G SNV Likely pathogenic 802580 rs1589439508 10:71048500-71048500 10:69288744-69288744
4 HK1 NM_000188.3(HK1):c.1370C>T (p.Thr457Met) SNV Likely pathogenic 372693 rs1057517928 10:71142347-71142347 10:69382591-69382591
5 HK1 NM_033500.2(HK1):c.-138G>A SNV Uncertain significance 587450 rs766565453 10:71048503-71048503 10:69288747-69288747

Expression for Neuropathy, Hereditary Motor and Sensory, Russe Type

Search GEO for disease gene expression data for Neuropathy, Hereditary Motor and Sensory, Russe Type.

Pathways for Neuropathy, Hereditary Motor and Sensory, Russe Type

Pathways related to Neuropathy, Hereditary Motor and Sensory, Russe Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.44 NDRG1 HK1

GO Terms for Neuropathy, Hereditary Motor and Sensory, Russe Type

Biological processes related to Neuropathy, Hereditary Motor and Sensory, Russe Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peripheral nervous system myelin maintenance GO:0032287 8.62 SH3TC2 NDRG1

Sources for Neuropathy, Hereditary Motor and Sensory, Russe Type

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