HMSNR
MCID: NRP010
MIFTS: 29

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

Categories: Genetic 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 58 54 76 30 13 6 41 74
Hmsnr 58 12 54 60 76
Cmt4g 58 12 54 60 76
Charcot-Marie-Tooth Disease Type 4g 12 60 76 15
Hereditary Motor and Sensory Neuropathy, Russe Type 58 54 60
Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4g 58 54
Charcot-Marie-Tooth Neuropathy Type 4g 12 76
Charcot-Marie-Tooth Disease, Type 4g 58 54
Autosomal Recessive Charcot-Marie-Tooth Disease Type 4g 12
Charcot-Marie-Tooth Disease Autosomal Recessive Type 4g 76
Hereditary Motor and Sensory Neuropathy Russe Type 12
Charcot-Marie-Tooth Disease, Type 4g; Cmt4g 58
Charcot-Marie-Tooth Neuropathy, Type 4g 58

Characteristics:

Orphanet epidemiological data:

60
charcot-marie-tooth disease type 4g
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
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:

33
neuropathy, hereditary motor and sensory, russe type:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110196
OMIM 58 605285
MeSH 45 D015417
ICD10 34 G60.0
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C1854449
Orphanet 60 ORPHA99953
MedGen 43 C1854449
UMLS 74 C1854449

Summaries for Neuropathy, Hereditary Motor and Sensory, Russe Type

OMIM : 58 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)

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 scoliosis and peripheral neuropathy

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

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 99953Disease definitionCharcot-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 : 76 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

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:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 scoliosis 33 occasional (7.5%) HP:0002650
2 peripheral neuropathy 33 HP:0009830
3 abnormality of the foot 33 HP:0001760
4 decreased motor nerve conduction velocity 33 HP:0003431
5 paralysis 33 HP:0003470
6 abnormality of the hand 33 HP:0001155
7 difficulty walking 33 HP:0002355
8 hyporeflexia 33 HP:0001265
9 distal muscle weakness 33 HP:0002460
10 decreased number of large peripheral myelinated nerve fibers 33 HP:0003387
11 axonal regeneration 33 HP:0003450
12 peripheral hypomyelination 33 HP:0007182

Symptoms via clinical synopsis from OMIM:

58
Neurologic Peripheral Nervous System:
difficulty walking
hyporeflexia
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

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 30 HK1

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

Publications for Neuropathy, Hereditary Motor and Sensory, Russe Type

Variations for Neuropathy, Hereditary Motor and Sensory, Russe Type

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HK1 NM_033498.2(HK1): c.-249-3838G> C single nucleotide variant Pathogenic rs797044964 GRCh38 Chromosome 10, 69278691: 69278691
2 HK1 NM_033498.2(HK1): c.-249-3838G> C single nucleotide variant Pathogenic rs797044964 GRCh37 Chromosome 10, 71038447: 71038447
3 HK1 NM_033500.2(HK1): c.-390-3818G> C single nucleotide variant Pathogenic rs397514654 GRCh37 Chromosome 10, 71038467: 71038467
4 HK1 NM_033500.2(HK1): c.-390-3818G> C single nucleotide variant Pathogenic rs397514654 GRCh38 Chromosome 10, 69278711: 69278711
5 HK1 NM_033497.2(HK1): c.4G> A (p.Gly2Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 71048503: 71048503
6 HK1 NM_033497.2(HK1): c.4G> A (p.Gly2Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 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 HK1 NDRG1

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 NDRG1 SH3TC2

Sources for Neuropathy, Hereditary Motor and Sensory, Russe Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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