MCID: CHR521
MIFTS: 37

Charcot-Marie-Tooth Disease, Type 4b1

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Muscle 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 57 29 13 6 40 73
Charcot-Marie-Tooth Disease Type 4b1 12 53 59 15
Cmt4b1 57 12 59 75
Cmt4b 57 75 55
Charcot-Marie-Tooth Neuropathy Type 4b1 12 75
Charcot-Marie-Tooth Disease, Type 4b 57 53
Charcot-Marie-Tooth Disease, Autosomal Recessive, with Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1 57
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 75
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1 75
Charcot-Marie-Tooth Disease, Type 4b; Cmt4b 57
Charcot-Marie-Tooth Neuropathy, Type 4b1 57
Charcot Marie Tooth Disease Type 4b1 53
Charcot-Marie-Tooth Disease Type 4b 75
Charcot-Marie-Tooth Disease 4b1 75
Cmt 4b1 53
Cmt 4b 53

Characteristics:

Orphanet epidemiological data:

59
charcot-marie-tooth disease type 4b1
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
charcot-marie-tooth disease, type 4b1:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 601382
Disease Ontology 12 DOID:0110191
ICD10 33 G60.0
Orphanet 59 ORPHA99955
MESH via Orphanet 45 C535420
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 74 C1832399
MedGen 42 C1832399
MeSH 44 D002607
UMLS 73 C1832399

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

UniProtKB/Swiss-Prot : 75 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, congenital hypomyelinating or amyelinating, autosomal recessive and tooth disease, 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).

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 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 18)
# Related Disease Score Top Affiliating Genes
1 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 27.9 GDAP1 MTM1 MTMR2 PRX SBF1 SBF2
2 tooth disease 27.9 GDAP1 MTMR2 PRX SBF1 SBF2
3 charcot-marie-tooth disease, type 4b2 27.7 GDAP1 MTM1 MTMR2 PRX SBF1 SBF2
4 charcot-marie-tooth disease 27.1 GDAP1 MTM1 MTMR2 PRX SBF1 SBF2
5 charcot-marie-tooth disease, type 4j 10.2 MTMR2 SBF2
6 charcot-marie-tooth disease, demyelinating, type 1a 9.9 GDAP1 MTMR2
7 hereditary neuropathies 9.9 MTMR2 PRX
8 charcot-marie-tooth disease and deafness 9.6 GDAP1 MTMR2
9 peripheral nervous system disease 9.4 GDAP1 MTMR2
10 hypertrophic neuropathy of dejerine-sottas 9.4 GDAP1 MTMR2 PRX
11 sensory peripheral neuropathy 9.3 GDAP1 MTMR2 PRX
12 neuropathy 9.2 GDAP1 PRX SBF2
13 charcot-marie-tooth disease, axonal, type 2e 9.0 GDAP1 MTM1 MTMR2 SBF2
14 charcot-marie-tooth disease, demyelinating, type 4f 9.0 GDAP1 MTMR2 PRX SBF2
15 charcot-marie-tooth disease, type 4a 9.0 GDAP1 MTMR2 PRX SBF2
16 early-onset glaucoma 8.8 MTM1 MTMR2 SBF1 SBF2
17 centronuclear myopathy 8.2 CDKN3 MTM1 MTMR2 SBF1 SBF2
18 charcot-marie-tooth disease, type 4b3 8.1 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 facial palsy 32 HP:0010628
3 decreased motor nerve conduction velocity 32 HP:0003431
4 talipes equinovarus 32 HP:0001762
5 motor delay 32 HP:0001270
6 distal muscle weakness 32 HP:0002460
7 proximal muscle weakness 32 HP:0003701
8 distal amyotrophy 32 HP:0003693
9 distal sensory impairment 32 HP:0002936
10 abnormal auditory evoked potentials 32 HP:0006958
11 irregular myelin loops 32 HP:0007208

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:

26
# 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 29 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:

75
# 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 18)
# 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.1131C> T (p.Thr377=) single nucleotide variant Benign rs566204 GRCh37 Chromosome 11, 95580926: 95580926
10 MTMR2 NM_016156.5(MTMR2): c.1131C> T (p.Thr377=) single nucleotide variant Benign rs566204 GRCh38 Chromosome 11, 95847762: 95847762
11 MTMR2 NM_016156.5(MTMR2): c.8A> C (p.Lys3Thr) single nucleotide variant Benign rs3824874 GRCh37 Chromosome 11, 95657111: 95657111
12 MTMR2 NM_016156.5(MTMR2): c.8A> C (p.Lys3Thr) single nucleotide variant Benign rs3824874 GRCh38 Chromosome 11, 95923947: 95923947
13 MTMR2 NM_016156.5(MTMR2): c.1756C> A (p.Arg586=) single nucleotide variant Benign/Likely benign rs61735577 GRCh38 Chromosome 11, 95836162: 95836162
14 MTMR2 NM_016156.5(MTMR2): c.1756C> A (p.Arg586=) single nucleotide variant Benign/Likely benign rs61735577 GRCh37 Chromosome 11, 95569326: 95569326
15 MTMR2 NM_016156.5(MTMR2): c.1504G> C (p.Glu502Gln) single nucleotide variant Benign/Likely benign rs61735578 GRCh37 Chromosome 11, 95571347: 95571347
16 MTMR2 NM_016156.5(MTMR2): c.1504G> C (p.Glu502Gln) single nucleotide variant Benign/Likely benign rs61735578 GRCh38 Chromosome 11, 95838183: 95838183
17 MTMR2 NM_016156.5(MTMR2): c.570+11T> C single nucleotide variant Conflicting interpretations of pathogenicity rs182582445 GRCh37 Chromosome 11, 95591684: 95591684
18 MTMR2 NM_016156.5(MTMR2): c.570+11T> C single nucleotide variant Conflicting interpretations of pathogenicity rs182582445 GRCh38 Chromosome 11, 95858520: 95858520

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 phosphatase activity GO:0016791 9.5 CDKN3 MTM1 MTMR2
2 phosphatidylinositol binding GO:0035091 9.46 MTM1 SBF2
3 phosphoprotein phosphatase activity GO:0004721 9.43 CDKN3 MTM1
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 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 9.26 MTM1 MTMR2
7 phosphatase regulator activity GO:0019208 9.16 SBF1 SBF2
8 protein tyrosine phosphatase activity GO:0004725 9.13 CDKN3 MTM1 MTMR2
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 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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