HMSNR
MCID: NRP010
MIFTS: 30

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 57 53 75 29 13 6 73
Hmsnr 57 12 53 59 75
Cmt4g 57 12 53 59 75
Charcot-Marie-Tooth Disease Type 4g 12 59 75 15
Hereditary Motor and Sensory Neuropathy, Russe Type 57 53 59
Charcot-Marie-Tooth Disease, Type 4g 57 53 40
Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4g 57 53
Charcot-Marie-Tooth Neuropathy Type 4g 12 75
Autosomal Recessive Charcot-Marie-Tooth Disease Type 4g 12
Charcot-Marie-Tooth Disease Autosomal Recessive Type 4g 75
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:

59
charcot-marie-tooth disease type 4g
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
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:

32
neuropathy, hereditary motor and sensory, russe type:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 605285
Disease Ontology 12 DOID:0110196
ICD10 33 G60.0
Orphanet 59 ORPHA99953
UMLS via Orphanet 74 C1854449
ICD10 via Orphanet 34 G60.0
MedGen 42 C1854449
MeSH 44 D015417
UMLS 73 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)

MalaCards based summary : Neuropathy, Hereditary Motor and Sensory, Russe Type, also known as hmsnr, is related to sensory peripheral neuropathy and neuropathy, congenital hypomyelinating or amyelinating, 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 : 53 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 scoliosis 32 occasional (7.5%) HP:0002650
2 peripheral neuropathy 32 HP:0009830
3 abnormality of the foot 32 HP:0001760
4 decreased motor nerve conduction velocity 32 HP:0003431
5 paralysis 32 HP:0003470
6 abnormality of the hand 32 HP:0001155
7 difficulty walking 32 HP:0002355
8 hyporeflexia 32 HP:0001265
9 distal muscle weakness 32 HP:0002460
10 decreased number of large peripheral myelinated nerve fibers 32 HP:0003387
11 axonal regeneration 32 HP:0003450
12 peripheral hypomyelination 32 HP:0007182

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:

# Title Authors Year
1
Refined mapping of the HMSNR critical gene region--construction of a high-density integrated genetic and physical map. ( 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 Variation Type Significance SNP ID Assembly Location
1 HK1 NM_033500.2(HK1): c.-390-3818G> C single nucleotide variant Pathogenic rs397514654 GRCh37 Chromosome 10, 71038467: 71038467
2 HK1 NM_033500.2(HK1): c.-390-3818G> C single nucleotide variant Pathogenic rs397514654 GRCh38 Chromosome 10, 69278711: 69278711
3 HK1 NM_033498.2(HK1): c.-249-3838G> C single nucleotide variant Pathogenic rs797044964 GRCh38 Chromosome 10, 69278691: 69278691
4 HK1 NM_033498.2(HK1): c.-249-3838G> C single nucleotide variant Pathogenic rs797044964 GRCh37 Chromosome 10, 71038447: 71038447

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 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
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