CMT4B1
MCID: CHR521
MIFTS: 38

Charcot-Marie-Tooth Disease, Type 4b1 (CMT4B1)

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Type 4b1

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Type 4b1:

Name: Charcot-Marie-Tooth Disease, Type 4b1 58 30 13 6 41 74
Charcot-Marie-Tooth Disease Type 4b1 12 54 60 15
Cmt4b1 58 12 60 76
Cmt4b 58 76 56
Charcot-Marie-Tooth Neuropathy Type 4b1 12 76
Charcot-Marie-Tooth Disease, Type 4b 58 54
Charcot-Marie-Tooth Disease Type 4b 77 76
Charcot-Marie-Tooth Disease, Autosomal Recessive, with Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1 58
Autosomal Recessive Charcot-Marie-Tooth Disease with Focally Folded Myelin Sheaths Type 4b1 12
Charcot-Marie-Tooth Disease Autosomal Recessive with Focally Folded Myelin Sheaths 4b1 76
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1 76
Charcot-Marie-Tooth Disease, Type 4b; Cmt4b 58
Charcot-Marie-Tooth Neuropathy, Type 4b1 58
Charcot Marie Tooth Disease Type 4b1 54
Charcot-Marie-Tooth Disease 4b1 76
Cmt 4b1 54
Cmt 4b 54

Characteristics:

Orphanet epidemiological data:

60
charcot-marie-tooth disease type 4b1
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
mean age of onset 34 months
death in fourth to fifth decade
begins in feet and legs (peroneal distribution)
severe clinical course
genetic heterogeneity (see cmt4b2, )


HPO:

33
charcot-marie-tooth disease, type 4b1:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110191
OMIM 58 601382
MeSH 45 D002607
ICD10 34 G60.0
MESH via Orphanet 46 C535420
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C1832399
Orphanet 60 ORPHA99955
MedGen 43 C1832399
UMLS 74 C1832399

Summaries for Charcot-Marie-Tooth Disease, Type 4b1

UniProtKB/Swiss-Prot : 76 Charcot-Marie-Tooth disease 4B1: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.

MalaCards based summary : Charcot-Marie-Tooth Disease, Type 4b1, also known as charcot-marie-tooth disease type 4b1, is related to neuropathy and sensory peripheral neuropathy, and has symptoms including facial paresis An important gene associated with Charcot-Marie-Tooth Disease, Type 4b1 is MTMR2 (Myotubularin Related Protein 2), and among its related pathways/superpathways is RAB GEFs exchange GTP for GDP on RABs. Related phenotypes are scoliosis and facial palsy

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 4 that has material basis in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2).

Wikipedia : 77 Charcot–Marie–Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group of... more...

Description from OMIM: 601382

Related Diseases for Charcot-Marie-Tooth Disease, Type 4b1

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Recessive Intermediate a Charcot-Marie-Tooth Disease, Type 4h
Charcot-Marie-Tooth Disease, Type 4j Charcot-Marie-Tooth Disease, Recessive Intermediate B
Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease Intermediate Type Charcot-Marie-Tooth Disease Type 5
Charcot-Marie-Tooth Disease Type 7 Charcot-Marie-Tooth Disease Type 2a2
Autosomal Dominant Intermediate Charcot-Marie-Tooth Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Disease Type 2f
Charcot-Marie-Tooth Disease Type 2g Charcot-Marie-Tooth Disease Type 2k
Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Disease Type 2n
Charcot-Marie-Tooth Disease Type 2o Charcot-Marie-Tooth Disease Type 2q
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation
Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 Pmp2-Related Charcot-Marie-Tooth Disease Type 1
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Diseases related to Charcot-Marie-Tooth Disease, Type 4b1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 neuropathy 30.0 GDAP1 PRX SBF2
2 sensory peripheral neuropathy 29.9 GDAP1 MTMR2 PRX
3 charcot-marie-tooth disease, type 4b2 29.8 GDAP1 MTM1 MTMR2 PRX SBF1 SBF2
4 tooth disease 29.7 GDAP1 MTMR2 PRX SBF1 SBF2
5 charcot-marie-tooth disease 29.3 GDAP1 MTM1 MTMR2 PRX SBF1 SBF2
6 neuropathy, congenital hypomyelinating, 1, autosomal recessive 11.3
7 charcot-marie-tooth disease, type 4j 10.0 MTMR2 SBF2
8 charcot-marie-tooth disease, demyelinating, type 1a 9.9 GDAP1 MTMR2
9 spinocerebellar ataxia type 1 with axonal neuropathy 9.8 MTMR2 PRX SBF2
10 neuropathy, hereditary, with liability to pressure palsies 9.8 GDAP1 MTMR2
11 charcot-marie-tooth disease and deafness 9.7 GDAP1 MTMR2
12 hypertrophic neuropathy of dejerine-sottas 9.7 GDAP1 MTMR2 PRX
13 centronuclear myopathy 9.6 MTM1 MTMR2 SBF1
14 charcot-marie-tooth disease, demyelinating, type 4f 9.5 GDAP1 MTMR2 PRX SBF2
15 charcot-marie-tooth disease, axonal, type 2e 9.5 GDAP1 MTM1 MTMR2 SBF2
16 charcot-marie-tooth disease, type 4a 9.5 GDAP1 MTMR2 PRX SBF2
17 peripheral nervous system disease 9.4 GDAP1 MTM1 MTMR2 PRX
18 early-onset glaucoma 9.4 MTM1 MTMR2 SBF1 SBF2
19 charcot-marie-tooth disease, type 4b3 9.1 GDAP1 MTM1 MTMR2 SBF1 SBF2

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Type 4b1:



Diseases related to Charcot-Marie-Tooth Disease, Type 4b1

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Type 4b1

Human phenotypes related to Charcot-Marie-Tooth Disease, Type 4b1:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 scoliosis 33 HP:0002650
2 facial palsy 33 HP:0010628
3 decreased motor nerve conduction velocity 33 HP:0003431
4 motor delay 33 HP:0001270
5 talipes equinovarus 33 HP:0001762
6 proximal muscle weakness 33 HP:0003701
7 distal muscle weakness 33 HP:0002460
8 distal amyotrophy 33 HP:0003693
9 distal sensory impairment 33 HP:0002936
10 abnormal auditory evoked potentials 33 HP:0006958
11 irregular myelin loops 33 HP:0007208

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
talipes equinovarus
foot deformities

Head And Neck Face:
facial weakness

Neurologic Peripheral Nervous System:
distal sensory impairment
abnormal auditory evoked potentials
delayed motor development
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
more
Skeletal Spine:
scoliosis may be present

Clinical features from OMIM:

601382

UMLS symptoms related to Charcot-Marie-Tooth Disease, Type 4b1:


facial paresis

GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease, Type 4b1 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.8 CDKN3 MTM1 MTMR2

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Type 4b1

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Type 4b1

Genetic Tests for Charcot-Marie-Tooth Disease, Type 4b1

Genetic tests related to Charcot-Marie-Tooth Disease, Type 4b1:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 4b1 30 MTMR2

Anatomical Context for Charcot-Marie-Tooth Disease, Type 4b1

Publications for Charcot-Marie-Tooth Disease, Type 4b1

Articles related to Charcot-Marie-Tooth Disease, Type 4b1:

# Title Authors Year
1
Whole-Exome Sequencing Identifies a Novel Homozygous Frameshift Mutation in the MTMR2 Gene as a Causative Mutation in a Patient with Charcot-Marie-Tooth Disease Type 4B1. ( 28509084 )
2017
2
Mild phenotype of Charcot-Marie-Tooth disease type 4B1. ( 23962696 )
2013
3
An animal model for Charcot-Marie-Tooth disease type 4B1. ( 16249189 )
2005
4
Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1. ( 12045210 )
2002

Variations for Charcot-Marie-Tooth Disease, Type 4b1

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Type 4b1:

76
# Symbol AA change Variation ID SNP ID
1 MTMR2 p.Arg283Trp VAR_047947

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Type 4b1:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 MTMR2 NM_016156.5(MTMR2): c.1276C> T (p.Gln426Ter) single nucleotide variant Pathogenic rs121434402 GRCh37 Chromosome 11, 95578227: 95578227
2 MTMR2 NM_016156.5(MTMR2): c.1276C> T (p.Gln426Ter) single nucleotide variant Pathogenic rs121434402 GRCh38 Chromosome 11, 95845063: 95845063
3 MTMR2 MTMR2, IVS13, G-A, +1 single nucleotide variant Pathogenic
4 MTMR2 NM_016156.5(MTMR2): c.826G> T (p.Glu276Ter) single nucleotide variant Pathogenic rs121434403 GRCh37 Chromosome 11, 95583005: 95583005
5 MTMR2 NM_016156.5(MTMR2): c.826G> T (p.Glu276Ter) single nucleotide variant Pathogenic rs121434403 GRCh38 Chromosome 11, 95849841: 95849841
6 MTMR2 NM_016156.5(MTMR2): c.1444C> T (p.Gln482Ter) single nucleotide variant Pathogenic rs121434404 GRCh37 Chromosome 11, 95574816: 95574816
7 MTMR2 NM_016156.5(MTMR2): c.1444C> T (p.Gln482Ter) single nucleotide variant Pathogenic rs121434404 GRCh38 Chromosome 11, 95841652: 95841652
8 MTMR2 MTMR2, 10-BP DEL/2-BP INS indel Pathogenic
9 MTMR2 NM_016156.5(MTMR2): c.1233G> A (p.Thr411=) single nucleotide variant Benign/Likely benign rs113897932 GRCh38 Chromosome 11, 95845106: 95845106
10 MTMR2 NM_016156.5(MTMR2): c.1233G> A (p.Thr411=) single nucleotide variant Benign/Likely benign rs113897932 GRCh37 Chromosome 11, 95578270: 95578270
11 MTMR2 NM_016156.5(MTMR2): c.80+13C> T single nucleotide variant Benign/Likely benign rs139510268 GRCh38 Chromosome 11, 95923862: 95923862
12 MTMR2 NM_016156.5(MTMR2): c.80+13C> T single nucleotide variant Benign/Likely benign rs139510268 GRCh37 Chromosome 11, 95657026: 95657026
13 MTMR2 NM_016156.5(MTMR2): c.1131C> T (p.Thr377=) single nucleotide variant Benign rs566204 GRCh37 Chromosome 11, 95580926: 95580926
14 MTMR2 NM_016156.5(MTMR2): c.1131C> T (p.Thr377=) single nucleotide variant Benign rs566204 GRCh38 Chromosome 11, 95847762: 95847762
15 MTMR2 NM_016156.5(MTMR2): c.8A> C (p.Lys3Thr) single nucleotide variant Benign rs3824874 GRCh37 Chromosome 11, 95657111: 95657111
16 MTMR2 NM_016156.5(MTMR2): c.8A> C (p.Lys3Thr) single nucleotide variant Benign rs3824874 GRCh38 Chromosome 11, 95923947: 95923947
17 MTMR2 NM_016156.5(MTMR2): c.1756C> A (p.Arg586=) single nucleotide variant Benign/Likely benign rs61735577 GRCh38 Chromosome 11, 95836162: 95836162
18 MTMR2 NM_016156.5(MTMR2): c.1756C> A (p.Arg586=) single nucleotide variant Benign/Likely benign rs61735577 GRCh37 Chromosome 11, 95569326: 95569326
19 MTMR2 NM_016156.5(MTMR2): c.1504G> C (p.Glu502Gln) single nucleotide variant Benign/Likely benign rs61735578 GRCh37 Chromosome 11, 95571347: 95571347
20 MTMR2 NM_016156.5(MTMR2): c.1504G> C (p.Glu502Gln) single nucleotide variant Benign/Likely benign rs61735578 GRCh38 Chromosome 11, 95838183: 95838183
21 MTMR2 NM_016156.5(MTMR2): c.570+11T> C single nucleotide variant Conflicting interpretations of pathogenicity rs182582445 GRCh37 Chromosome 11, 95591684: 95591684
22 MTMR2 NM_016156.5(MTMR2): c.570+11T> C single nucleotide variant Conflicting interpretations of pathogenicity rs182582445 GRCh38 Chromosome 11, 95858520: 95858520
23 MTMR2 NM_016156.5(MTMR2): c.1164G> A (p.Trp388Ter) single nucleotide variant Pathogenic rs1555060024 GRCh37 Chromosome 11, 95580893: 95580893
24 MTMR2 NM_016156.5(MTMR2): c.1164G> A (p.Trp388Ter) single nucleotide variant Pathogenic rs1555060024 GRCh38 Chromosome 11, 95847729: 95847729
25 MTMR2 NM_016156.5(MTMR2): c.1768C> T (p.Gln590Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 95836150: 95836150
26 MTMR2 NM_016156.5(MTMR2): c.1768C> T (p.Gln590Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 95569314: 95569314

Expression for Charcot-Marie-Tooth Disease, Type 4b1

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Type 4b1.

Pathways for Charcot-Marie-Tooth Disease, Type 4b1

Pathways related to Charcot-Marie-Tooth Disease, Type 4b1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.58 SBF1 SBF2

GO Terms for Charcot-Marie-Tooth Disease, Type 4b1

Cellular components related to Charcot-Marie-Tooth Disease, Type 4b1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.63 CDKN3 GDAP1 MTM1 MTMR2 SBF1 SBF2
2 cytoplasm GO:0005737 9.5 CDKN3 GDAP1 MTM1 MTMR2 PRX SBF1
3 vacuolar membrane GO:0005774 8.62 MTMR2 SBF2

Biological processes related to Charcot-Marie-Tooth Disease, Type 4b1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dephosphorylation GO:0016311 9.43 CDKN3 MTM1 MTMR2
2 regulation of GTPase activity GO:0043087 9.4 SBF1 SBF2
3 protein tetramerization GO:0051262 9.37 MTMR2 SBF2
4 peptidyl-tyrosine dephosphorylation GO:0035335 9.33 CDKN3 MTM1 MTMR2
5 phosphatidylinositol dephosphorylation GO:0046856 9.32 MTM1 MTMR2
6 phosphatidylinositol biosynthetic process GO:0006661 9.13 MTM1 MTMR2 SBF1
7 protein dephosphorylation GO:0006470 8.92 CDKN3 MTM1 MTMR2 SBF1

Molecular functions related to Charcot-Marie-Tooth Disease, Type 4b1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphoprotein phosphatase activity GO:0004721 9.46 CDKN3 MTM1
2 phosphatidylinositol binding GO:0035091 9.43 MTM1 SBF2
3 phosphatase activity GO:0016791 9.43 CDKN3 MTM1 MTMR2
4 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.4 SBF1 SBF2
5 phosphatidylinositol-3-phosphatase activity GO:0004438 9.37 MTM1 MTMR2
6 protein tyrosine phosphatase activity GO:0004725 9.33 CDKN3 MTM1 MTMR2
7 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 9.32 MTM1 MTMR2
8 phosphatase regulator activity GO:0019208 8.96 SBF1 SBF2
9 protein tyrosine/serine/threonine phosphatase activity GO:0008138 8.8 CDKN3 MTMR2 SBF1

Sources for Charcot-Marie-Tooth Disease, Type 4b1

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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