CMT4B1
MCID: CHR521
MIFTS: 47

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

Categories: Ear diseases, Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological 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 57 29 13 6 39 70
Charcot-Marie-Tooth Disease Type 4b1 12 20 58 15
Cmt4b1 57 12 58 72
Cmt4b 57 72 54
Charcot-Marie-Tooth Neuropathy Type 4b1 12 72
Charcot-Marie-Tooth Disease, Type 4b 57 20
Charcot-Marie-Tooth Disease Type 4b 73 72
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 72
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1 72
Charcot-Marie-Tooth Disease, Type 4b; Cmt4b 57
Charcot-Marie-Tooth Neuropathy, Type 4b1 57
Charcot Marie Tooth Disease Type 4b1 20
Charcot-Marie-Tooth Disease 4b1 72
Cmt 4b1 20
Cmt 4b 20

Characteristics:

Orphanet epidemiological data:

58
charcot-marie-tooth disease type 4b1
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
charcot-marie-tooth disease, type 4b1:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110191
OMIM® 57 601382
OMIM Phenotypic Series 57 PS118220
MeSH 44 D002607
ICD10 32 G60.0
MESH via Orphanet 45 C535420
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 71 C1832399
Orphanet 58 ORPHA99955
MedGen 41 C1832399
UMLS 70 C1832399

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

UniProtKB/Swiss-Prot : 72 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 polyneuropathy and charcot-marie-tooth disease, type 4b3, 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 are Glycerophospholipid biosynthesis and superpathway of inositol phosphate compounds. 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 : 73 Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous... more...

More information from OMIM: 601382 PS118220

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 D
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, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
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 2a2a Charcot-Marie-Tooth Disease Type 2a2b
Charcot-Marie-Tooth Disease Type 1g Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2l 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
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 top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 polyneuropathy 29.8 SH3TC2 PRX MPZ LITAF GDAP1
2 charcot-marie-tooth disease, type 4b3 29.7 SH3TC2 SBF2 SBF1 PIKFYVE MTMR2 MTM1
3 sensory peripheral neuropathy 29.7 PRX MTMR2 MTM1 MPZ LITAF GDAP1
4 neuropathy 28.2 SH3TC2 SBF2 RAB7A PRX MTMR2 MPZ
5 tooth disease 28.0 SH3TC2 SBF2 SBF1 RAB7A PRX MTMR2
6 peripheral nervous system disease 27.3 SH3TC2 SBF2 RAB7A PRX MTMR2 MPZ
7 charcot-marie-tooth disease, type 4b2 27.2 VAC14 SH3TC2 SBF2 SBF1 RAB7A PRX
8 charcot-marie-tooth disease 27.1 VAC14 SH3TC2 SBF2 SBF1 RAB7A PRX
9 neuropathy, congenital hypomyelinating, 1, autosomal recessive 27.1 VAC14 SH3TC2 SBF2 SBF1 RAB7A PRX
10 myopathy 10.3
11 neuropathy, hereditary motor and sensory, russe type 10.1 SH3TC2 GDAP1
12 pupil disease 10.1 MPZ GDAP1
13 argyll robertson pupil 10.1 MPZ GDAP1
14 abnormal pupillary function 10.1 MPZ GDAP1
15 early-onset glaucoma 10.1 SBF2 SBF1 MTMR2 MTM1
16 charcot-marie-tooth disease, type 4k 10.1 SH3TC2 LITAF
17 charcot-marie-tooth disease, axonal, type 2w 10.1 MPZ GDAP1
18 genetic motor neuron disease 10.1 SH3TC2 MPZ
19 charcot-marie-tooth disease, axonal, type 2t 10.1 SH3TC2 GDAP1
20 neuropathy, hereditary sensory and autonomic, type ic 10.1 SH3TC2 LITAF
21 charcot-marie-tooth disease, axonal, type 2a1 10.1 MPZ GDAP1
22 developmental and epileptic encephalopathy 53 10.1 MTMR7 FIG4
23 parkinson disease 20, early-onset 10.1 MTMR7 FIG4
24 peliosis hepatis 10.1 MTM1 DNM2
25 charcot-marie-tooth disease, x-linked recessive, 2 10.0 MPZ LITAF
26 striatonigral degeneration 10.0 VAC14 PIKFYVE FIG4
27 mononeuropathy 10.0 SH3TC2 MPZ
28 charcot-marie-tooth disease, axonal, type 2d 10.0 SH3TC2 MPZ GDAP1
29 nerve compression syndrome 9.9 SH3TC2 MPZ
30 retinitis pigmentosa 9.9
31 retinitis pigmentosa-deafness syndrome 9.9
32 branchiootic syndrome 1 9.9
33 intraocular pressure quantitative trait locus 9.9
34 usher syndrome 9.9
35 neuroretinitis 9.9
36 facial paralysis 9.9
37 azoospermia 9.9
38 retinitis 9.9
39 charcot-marie-tooth disease, axonal, type 2p 9.9 LITAF GDAP1 DNM2
40 cortical dysplasia, complex, with other brain malformations 6 9.8 LITAF GDAP1
41 hereditary neuropathies 9.8 SH3TC2 PRX MTMR2 MPZ
42 charcot-marie-tooth disease, dominant intermediate c 9.8 MPZ GDAP1 DNM2
43 charcot-marie-tooth disease, axonal, type 2i 9.8 SH3TC2 PRX MPZ GDAP1
44 charcot-marie-tooth disease, axonal, type 2b2 9.8 MPZ GDAP1 DNM2
45 charcot-marie-tooth disease, dominant intermediate d 9.8 SH3TC2 MPZ DNM2
46 charcot-marie-tooth disease, dominant intermediate e 9.8 SH3TC2 SBF2 MTMR2 MPZ GDAP1
47 hereditary sensory and autonomic neuropathy type 1 9.7 SH3TC2 RAB7A LITAF
48 corneal dystrophy, fleck 9.7 VAC14 SBF2 PIKFYVE MTMR2 MTM1 FIG4
49 charcot-marie-tooth disease, axonal, type 2l 9.7 RAB7A MPZ GDAP1
50 yunis-varon syndrome 9.7 VAC14 SBF2 PIKFYVE MTMR2 GDAP1 FIG4

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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 facial palsy 31 HP:0010628
3 motor delay 31 HP:0001270
4 talipes equinovarus 31 HP:0001762
5 decreased motor nerve conduction velocity 31 HP:0003431
6 distal muscle weakness 31 HP:0002460
7 proximal muscle weakness 31 HP:0003701
8 distal sensory impairment 31 HP:0002936
9 distal amyotrophy 31 HP:0003693
10 abnormal auditory evoked potentials 31 HP:0006958
11 irregular myelin loops 31 HP:0007208

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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


facial paresis

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Type 4b1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.77 CDKN3 DNM2 FGD4 FIG4 GDAP1 MPZ
2 nervous system MP:0003631 9.4 DNM2 FGD4 FIG4 GDAP1 LITAF MPZ

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:

(show all 49)
# Title Authors PMID Year
1
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. 57 6 54
10802647 2000
2
An animal model for Charcot-Marie-Tooth disease type 4B1. 61 57
16249189 2005
3
Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. 54 57
8817346 1996
4
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 6
32214227 2020
5
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22. 57
10673338 2000
6
Exclusion of the SCN2B gene as candidate for CMT4B. 57
9887383 1998
7
Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family. 57
8628474 1996
8
The phosphoinositide 3-phosphatase MTMR2 interacts with PSD-95 and maintains excitatory synapses by modulating endosomal traffic. 61 54
20410104 2010
9
Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases. 61 54
17880751 2007
10
Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells. 61 54
17336078 2007
11
[Molecular genetics of inherited neuropathies]. 54 61
17432174 2006
12
[Molecular genetics of inherited neuropathies]. 61 54
16541790 2006
13
Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings. 54 61
16162938 2005
14
Membrane association of myotubularin-related protein 2 is mediated by a pleckstrin homology-GRAM domain and a coiled-coil dimerization module. 54 61
14530412 2003
15
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. 61 54
12687498 2003
16
Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy. 61
33653949 2021
17
Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report. 61
32488727 2020
18
Confounding clinical presentation and different disease progression in CMT4B1. 61
32586600 2020
19
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs). 61
31070812 2019
20
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking. 61
31680794 2019
21
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. 61
28509084 2018
22
An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination. 61
30419760 2018
23
Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature. 61
28190646 2017
24
Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination. 61
27799291 2016
25
SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2. 61
27466180 2016
26
Occurrence of Optic Neuritis and Cervical Cord Schwannoma with Charcot-Marie-Tooth Type 4B1 Disease. 61
27162595 2016
27
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies. 61
27123480 2016
28
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation. 61
25388615 2015
29
Mild phenotype of Charcot-Marie-Tooth disease type 4B1. 61
23962696 2013
30
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. 61
23749797 2013
31
The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression. 61
23297362 2013
32
Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes. 61
21741241 2011
33
Respiratory muscle weakness in peripheral neuropathies. 61
21199102 2010
34
Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination. 54
19587293 2009
35
Genetic study of demyelinating form of autosomal-recessive Charcot-Marie-tooth diseases in a Turkish family. 61
19922348 2009
36
Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice. 61
18349142 2008
37
Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2. 61
17855448 2007
38
Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system. 61
17917119 2007
39
The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease. 54
15998640 2005
40
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. 61
15557122 2004
41
SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. 54
15304601 2004
42
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve. 61
12837694 2003
43
Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. 54
12668758 2003
44
Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases. 54
12646134 2003
45
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. 54
12554688 2003
46
Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1. 61
12045210 2002
47
Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B. 54
11867209 2002
48
Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy. 54
11354824 2001
49
Charcot-Marie-Tooth Neuropathy Type 4 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301641 1998

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

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

6 (show top 50) (show all 87)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MTMR2 MTMR2, IVS13, G-A, +1 SNV Pathogenic 6232 GRCh37:
GRCh38:
2 MTMR2 NM_016156.5(MTMR2):c.1444C>T (p.Gln482Ter) SNV Pathogenic 6234 rs121434404 GRCh37: 11:95574816-95574816
GRCh38: 11:95841652-95841652
3 MTMR2 MTMR2, 10-BP DEL/2-BP INS Indel Pathogenic 6235 GRCh37:
GRCh38:
4 MTMR2 NM_016156.5(MTMR2):c.1164G>A (p.Trp388Ter) SNV Pathogenic 549685 rs1555060024 GRCh37: 11:95580893-95580893
GRCh38: 11:95847729-95847729
5 MTMR2 NM_016156.5(MTMR2):c.1768C>T (p.Gln590Ter) SNV Pathogenic 623390 rs1565342506 GRCh37: 11:95569314-95569314
GRCh38: 11:95836150-95836150
6 MTMR2 NM_016156.6(MTMR2):c.1490dup (p.Phe498fs) Duplication Pathogenic 684408 rs1590971080 GRCh37: 11:95571360-95571361
GRCh38: 11:95838196-95838197
7 MTMR2 NM_016156.5(MTMR2):c.1479+1G>A SNV Pathogenic 684409 rs1590974546 GRCh37: 11:95574780-95574780
GRCh38: 11:95841616-95841616
8 MTMR2 NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter) SNV Pathogenic 684410 rs776757548 GRCh37: 11:95580967-95580967
GRCh38: 11:95847803-95847803
9 MTMR2 NM_016156.6(MTMR2):c.883C>T (p.Arg295Ter) SNV Pathogenic 684411 rs1171462240 GRCh37: 11:95582948-95582948
GRCh38: 11:95849784-95849784
10 MTMR2 NM_201278.3(MTMR2):c.1319_1320TA[3] (p.Ser442fs) Microsatellite Pathogenic 406679 rs1555057316 GRCh37: 11:95571312-95571313
GRCh38: 11:95838148-95838149
11 MTMR2 NM_016156.5(MTMR2):c.1276C>T (p.Gln426Ter) SNV Pathogenic 6231 rs121434402 GRCh37: 11:95578227-95578227
GRCh38: 11:95845063-95845063
12 MTMR2 NM_016156.6(MTMR2):c.1736_1745delinsCC (p.Tyr579fs) Indel Pathogenic 993001 GRCh37: 11:95569337-95569346
GRCh38: 11:95836173-95836182
13 MTMR2 NM_016156.5(MTMR2):c.826G>T (p.Glu276Ter) SNV Pathogenic 6233 rs121434403 GRCh37: 11:95583005-95583005
GRCh38: 11:95849841-95849841
14 MTMR2 NM_016156.6(MTMR2):c.1593+1G>A SNV Pathogenic 637472 rs1590970875 GRCh37: 11:95571257-95571257
GRCh38: 11:95838093-95838093
15 MTMR2 NM_016156.6(MTMR2):c.766_767del (p.Lys256fs) Deletion Likely pathogenic 804461 rs769429967 GRCh37: 11:95583801-95583802
GRCh38: 11:95850637-95850638
16 MTMR2 NM_016156.6(MTMR2):c.463T>C (p.Cys155Arg) SNV Likely pathogenic 978023 GRCh37: 11:95595161-95595161
GRCh38: 11:95861997-95861997
17 MTMR2 NM_016156.5(MTMR2):c.1855T>C (p.Ser619Pro) SNV Conflicting interpretations of pathogenicity 234375 rs116750638 GRCh37: 11:95568531-95568531
GRCh38: 11:95835367-95835367
18 MTMR2 NM_016156.5(MTMR2):c.1431G>A (p.Ser477=) SNV Uncertain significance 392709 rs200285624 GRCh37: 11:95574829-95574829
GRCh38: 11:95841665-95841665
19 MTMR2 NM_016156.5(MTMR2):c.1843C>G (p.Gln615Glu) SNV Uncertain significance 306534 rs886048770 GRCh37: 11:95568543-95568543
GRCh38: 11:95835379-95835379
20 MTMR2 NM_016156.5(MTMR2):c.604C>G (p.Pro202Ala) SNV Uncertain significance 543380 rs186380748 GRCh37: 11:95590766-95590766
GRCh38: 11:95857602-95857602
21 MTMR2 NM_016156.5(MTMR2):c.547G>T (p.Ala183Ser) SNV Uncertain significance 306544 rs142155860 GRCh37: 11:95591718-95591718
GRCh38: 11:95858554-95858554
22 MTMR2 NM_016156.5(MTMR2):c.1339G>A (p.Val447Ile) SNV Uncertain significance 306541 rs769693714 GRCh37: 11:95578164-95578164
GRCh38: 11:95845000-95845000
23 MTMR2 NM_016156.5(MTMR2):c.*679A>C SNV Uncertain significance 306525 rs776788118 GRCh37: 11:95567775-95567775
GRCh38: 11:95834611-95834611
24 MTMR2 NM_016156.5(MTMR2):c.-82C>T SNV Uncertain significance 306548 rs886048773 GRCh37: 11:95657200-95657200
GRCh38: 11:95924036-95924036
25 MTMR2 NM_016156.5(MTMR2):c.*1826C>A SNV Uncertain significance 306508 rs145394232 GRCh37: 11:95566628-95566628
GRCh38: 11:95833464-95833464
26 MTMR2 NM_016156.5(MTMR2):c.*133C>G SNV Uncertain significance 306531 rs367677499 GRCh37: 11:95568321-95568321
GRCh38: 11:95835157-95835157
27 MTMR2 NM_016156.5(MTMR2):c.*1425A>G SNV Uncertain significance 306513 rs886048764 GRCh37: 11:95567029-95567029
GRCh38: 11:95833865-95833865
28 MTMR2 NM_016156.6(MTMR2):c.23_24AG[1] (p.Leu10fs) Microsatellite Uncertain significance 800877 rs1591060788 GRCh37: 11:95657093-95657094
GRCh38: 11:95923929-95923930
29 MTMR2 NM_016156.6(MTMR2):c.*1036C>T SNV Uncertain significance 881220 GRCh37: 11:95567418-95567418
GRCh38: 11:95834254-95834254
30 MTMR2 NM_016156.6(MTMR2):c.*825G>A SNV Uncertain significance 881221 GRCh37: 11:95567629-95567629
GRCh38: 11:95834465-95834465
31 MTMR2 NM_016156.6(MTMR2):c.*810C>G SNV Uncertain significance 881222 GRCh37: 11:95567644-95567644
GRCh38: 11:95834480-95834480
32 MTMR2 NM_016156.6(MTMR2):c.289T>A (p.Phe97Ile) SNV Uncertain significance 881265 GRCh37: 11:95595504-95595504
GRCh38: 11:95862340-95862340
33 MTMR2 NM_016156.6(MTMR2):c.162C>T (p.Ala54=) SNV Uncertain significance 881266 GRCh37: 11:95621344-95621344
GRCh38: 11:95888180-95888180
34 MTMR2 NM_016156.6(MTMR2):c.*2042G>C SNV Uncertain significance 881638 GRCh37: 11:95566412-95566412
GRCh38: 11:95833248-95833248
35 MTMR2 NM_016156.6(MTMR2):c.*335T>C SNV Uncertain significance 881685 GRCh37: 11:95568119-95568119
GRCh38: 11:95834955-95834955
36 MTMR2 NM_016156.6(MTMR2):c.*239A>T SNV Uncertain significance 881686 GRCh37: 11:95568215-95568215
GRCh38: 11:95835051-95835051
37 MTMR2 NM_016156.6(MTMR2):c.*212A>C SNV Uncertain significance 881687 GRCh37: 11:95568242-95568242
GRCh38: 11:95835078-95835078
38 MTMR2 NM_016156.6(MTMR2):c.-81G>A SNV Uncertain significance 881728 GRCh37: 11:95657199-95657199
GRCh38: 11:95924035-95924035
39 MTMR2 NM_016156.6(MTMR2):c.-89C>G SNV Uncertain significance 881729 GRCh37: 11:95657207-95657207
GRCh38: 11:95924043-95924043
40 MTMR2 NM_016156.6(MTMR2):c.*1656T>G SNV Uncertain significance 882800 GRCh37: 11:95566798-95566798
GRCh38: 11:95833634-95833634
41 MTMR2 NM_016156.6(MTMR2):c.*1339T>G SNV Uncertain significance 883584 GRCh37: 11:95567115-95567115
GRCh38: 11:95833951-95833951
42 MTMR2 NM_016156.6(MTMR2):c.*1271A>G SNV Uncertain significance 883585 GRCh37: 11:95567183-95567183
GRCh38: 11:95834019-95834019
43 MTMR2 NM_016156.6(MTMR2):c.*1249G>A SNV Uncertain significance 883586 GRCh37: 11:95567205-95567205
GRCh38: 11:95834041-95834041
44 MTMR2 NM_016156.5(MTMR2):c.655-8A>G SNV Uncertain significance 306542 rs768562214 GRCh37: 11:95583921-95583921
GRCh38: 11:95850757-95850757
45 MTMR2 NM_016156.5(MTMR2):c.212C>T (p.Ala71Val) SNV Uncertain significance 306545 rs886048772 GRCh37: 11:95598815-95598815
GRCh38: 11:95865651-95865651
46 MTMR2 NM_016156.5(MTMR2):c.*2038C>G SNV Uncertain significance 306503 rs886048763 GRCh37: 11:95566416-95566416
GRCh38: 11:95833252-95833252
47 MTMR2 NM_016156.5(MTMR2):c.*910T>A SNV Uncertain significance 306523 rs555290971 GRCh37: 11:95567544-95567544
GRCh38: 11:95834380-95834380
48 MTMR2 NM_016156.5(MTMR2):c.*660G>A SNV Uncertain significance 306526 rs886048768 GRCh37: 11:95567794-95567794
GRCh38: 11:95834630-95834630
49 MTMR2 NM_016156.5(MTMR2):c.*207A>G SNV Uncertain significance 306529 rs185702937 GRCh37: 11:95568247-95568247
GRCh38: 11:95835083-95835083
50 MTMR2 NM_016156.5(MTMR2):c.-222G>C SNV Uncertain significance 306549 rs746848952 GRCh37: 11:95657340-95657340
GRCh38: 11:95924176-95924176

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

72
# Symbol AA change Variation ID SNP ID
1 MTMR2 p.Arg283Trp VAR_047947

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
Show member pathways
12.24 VAC14 PIKFYVE MTMR7 MTMR2 MTMR1 MTM1
2
Show member pathways
12.2 PIKFYVE MTMR7 MTMR2 MTMR1 MTM1 FIG4
3
Show member pathways
11.43 VAC14 PIKFYVE MTMR7 MTMR2 MTMR1 MTM1
4 11.39 SBF2 SBF1 RAB7A

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 membrane GO:0016020 10.28 VAC14 SBF2 SBF1 RAB7A PRX PIKFYVE
2 cytosol GO:0005829 10.13 VAC14 SBF2 SBF1 RAB7A PIKFYVE MTMR7
3 Golgi membrane GO:0000139 9.85 VAC14 PIKFYVE LITAF FIG4 DNM2
4 perinuclear region of cytoplasm GO:0048471 9.85 SBF2 SBF1 PIKFYVE MTMR2 DNM2 CDKN3
5 early endosome membrane GO:0031901 9.65 VAC14 PIKFYVE MTMR2 LITAF FIG4
6 phagocytic vesicle membrane GO:0030670 9.61 RAB7A PIKFYVE DNM2
7 late endosome membrane GO:0031902 9.55 VAC14 RAB7A PIKFYVE LITAF FIG4
8 endosome membrane GO:0010008 9.5 VAC14 SBF2 RAB7A PIKFYVE MTMR2 LITAF
9 vacuolar membrane GO:0005774 9.48 SBF2 MTMR2
10 endosome GO:0005768 9.28 VAC14 SBF2 RAB7A PIKFYVE MTMR2 MTM1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 protein dephosphorylation GO:0006470 9.77 SBF1 MTMR7 MTMR2 MTM1 CDKN3
2 dephosphorylation GO:0016311 9.72 MTMR7 MTMR2 MTMR1 MTM1 CDKN3
3 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.71 RAB7A PIKFYVE DNM2
4 regulation of GTPase activity GO:0043087 9.7 SBF2 SBF1 FGD4
5 phosphatidylinositol metabolic process GO:0046488 9.58 PIKFYVE MTMR2 FIG4
6 mitochondrial fission GO:0000266 9.57 GDAP1 DNM2
7 inositol phosphate dephosphorylation GO:0046855 9.56 MTMR7 MTMR2
8 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.55 PIKFYVE FIG4
9 peptidyl-tyrosine dephosphorylation GO:0035335 9.55 MTMR7 MTMR2 MTMR1 MTM1 CDKN3
10 phagosome-lysosome fusion GO:0090385 9.51 RAB7A PIKFYVE
11 phagosome maturation GO:0090382 9.49 RAB7A PIKFYVE
12 negative regulation of myelination GO:0031642 9.48 MTMR2 FIG4
13 peripheral nervous system myelin maintenance GO:0032287 9.46 SH3TC2 PRX
14 regulation of phosphatidylinositol dephosphorylation GO:0060304 9.43 MTMR2 MTMR1
15 myelin assembly GO:0032288 9.43 PIKFYVE MTMR2 FIG4
16 phosphatidylinositol dephosphorylation GO:0046856 9.35 MTMR7 MTMR2 MTMR1 MTM1 FIG4
17 phosphatidylinositol biosynthetic process GO:0006661 9.23 VAC14 SBF1 PIKFYVE MTMR7 MTMR2 MTMR1

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10 MTMR7 MTMR2 MTMR1 MTM1 FIG4 DNM2
2 protein tyrosine phosphatase activity GO:0004725 9.65 MTMR7 MTMR2 MTMR1 MTM1 CDKN3
3 protein tyrosine/serine/threonine phosphatase activity GO:0008138 9.58 SBF1 MTMR2 CDKN3
4 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 9.5 MTMR2 MTMR1 MTM1
5 phosphatase regulator activity GO:0019208 9.43 SBF2 SBF1
6 phosphatase activity GO:0016791 9.43 SBF1 MTMR7 MTMR2 MTMR1 MTM1 CDKN3
7 phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity GO:0043813 9.37 PIKFYVE FIG4
8 phosphatidylinositol phosphate phosphatase activity GO:0052866 9.33 MTMR7 MTMR2 MTMR1
9 phosphatidylinositol-3-phosphatase activity GO:0004438 9.02 MTMR7 MTMR2 MTMR1 MTM1 FIG4

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

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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