CMT1B
MCID: CHR625
MIFTS: 51

Charcot-Marie-Tooth Disease, Demyelinating, Type 1b (CMT1B)

Categories: Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b:

Name: Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 58 54 30 6
Charcot-Marie-Tooth Disease Type 1b 12 77 54 60 15
Peroneal Muscular Atrophy 58 12 54 76
Cmt1b 58 12 60 76
Hereditary Motor and Sensory Neuropathy Ib 58 12 76
Hmsn Ib 58 12 76
Hmsn1b 58 12 76
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked to Duffy 12 76
Charcot-Marie-Tooth Neuropathy Type 1b 12 76
Charcot-Marie-Tooth Disease, Type 1b 58 13
Charcot-Marie-Tooth Disease, Type Ib 41 74
Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1b 58
Autosomal Dominant Charcot-Marie-Tooth Disease with Focally Folded Myelin Sheaths Type 1b 12
Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked to Duffy 58
Hereditary Motor and Sensory Neuropathy Ib; Hmsn Ib 58
Hereditary Motor and Sensory Neuropathy I; Hmsn I 58
Charcot-Marie-Tooth Disease Demyelinating Type 1b 76
Hereditary Motor and Sensory Neuropathy Type I 74
Hereditary Motor and Sensory Neuropathy 1b 54
Hereditary Motor and Sensory Neuropathy I 58
Charcot-Marie-Tooth Neuropathy, Type 1b 58
Charcot Marie Tooth Disease Type 1b 54
Charcot-Marie-Tooth Disease 1b 76
Charcot-Marie-Tooth Disease 74
Hmsn Type I 56
Hmsn 1b 54
Hmsn I 58
Cmt 1b 54
Hmsn1 58

Characteristics:

Orphanet epidemiological data:

60
charcot-marie-tooth disease type 1b
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
slowly progressive
onset in first or second decade
usually begins in feet and legs (peroneal distribution)
upper limb involvement usually occurs later
insidious onset
genetic heterogeneity (see cmt1a )
clinical overlap with dejerine-sottas syndrome (dss, )
see cmt4a for autosomal recessive demyelinating forms
allelic disorders with overlapping phenotypes include dss, congenital hypomyelination (chn, ), and some forms of axonal cmt2 (see )


HPO:

33
charcot-marie-tooth disease, demyelinating, type 1b:
Onset and clinical course variable expressivity insidious onset slow progression juvenile onset
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

UniProtKB/Swiss-Prot : 76 Charcot-Marie-Tooth disease 1B: A dominant 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.

MalaCards based summary : Charcot-Marie-Tooth Disease, Demyelinating, Type 1b, also known as charcot-marie-tooth disease type 1b, is related to roussy-levy hereditary areflexic dystasia and charcot-marie-tooth disease, x-linked dominant, 1, and has symptoms including seizures, tremor and back pain. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1b is MPZ (Myelin Protein Zero), and among its related pathways/superpathways is Neural Crest Differentiation. The drugs protease inhibitors and 4-des-dimethylaminotetracycline have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and skin, and related phenotypes are muscle weakness and scoliosis

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 1 that has material basis in heterozygous mutation in the gene encoding myelin protein zero (MPZ).

OMIM : 58 Charcot-Marie-Tooth disease is a sensorineural peripheral polyneuropathy. Affecting approximately 1 in 2,500 individuals, Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system (Skre, 1974). Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. (118200)

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

Related Diseases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Diseases in the Charcot-Marie-Tooth Disease, Demyelinating, Type 1b family:

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a Charcot-Marie-Tooth Disease, Demyelinating, Type 1c
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d Charcot-Marie-Tooth Disease, Demyelinating, Type 1f
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f Charcot-Marie-Tooth Disease, Demyelinating, Type 1g

Diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 roussy-levy hereditary areflexic dystasia 31.8 MPZ PMP22
2 charcot-marie-tooth disease, x-linked dominant, 1 31.4 GJB1 MPZ PMP22
3 charcot-marie-tooth disease, demyelinating, type 1c 30.3 EGR2 GJB1 KIF1B MPZ PMP22
4 polyneuropathy 30.0 MPZ PMP22
5 charcot-marie-tooth disease, demyelinating, type 1a 29.9 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
6 neuropathy 29.4 EGR2 GJB1 MPZ PMP22
7 charcot-marie-tooth disease and deafness 29.3 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
8 charcot-marie-tooth disease, demyelinating, type 1d 29.3 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
9 charcot-marie-tooth disease 28.9 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
10 sensory peripheral neuropathy 28.9 EGR2 GJB1 MPZ MTMR2 PMP22
11 tooth disease 28.9 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
12 hypertrophic neuropathy of dejerine-sottas 27.7 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
13 charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita 12.4
14 charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined 12.4
15 charcot-marie-tooth disease, axonal, type 2a1 11.0
16 hereditary motor and sensory neuropathy v 11.0
17 charcot-marie-tooth disease, axonal, type 2b1 11.0
18 charcot-marie-tooth disease, axonal, type 2b2 11.0
19 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 11.0
20 charcot-marie-tooth disease, demyelinating, type 1g 11.0
21 muscular atrophy 11.0
22 neurofibromatosis, type i 10.4
23 neurofibromatosis, type iv, of riccardi 10.4
24 nerve compression syndrome 10.4
25 atrial standstill 1 10.3
26 epilepsy 10.3
27 myotonic dystrophy 10.2
28 myotonia atrophica 10.2
29 congenital hypomyelination neuropathy 10.2 MPZ PMP22
30 early myoclonic encephalopathy 10.2
31 tremor 10.2
32 charcot-marie-tooth hereditary neuropathy 10.2 MPZ PMP22
33 foot drop 10.2 MPZ PMP22
34 chronic inflammatory demyelinating polyradiculoneuropathy 10.1 MPZ PMP22
35 charcot-marie-tooth disease, axonal, type 2i 10.1 KIF1B MPZ
36 polyradiculoneuropathy 10.1 MPZ PMP22
37 charcot-marie-tooth disease, axonal, type 2j 10.1 KIF1B MPZ
38 chromosomal triplication 10.1
39 sensory neuropathy type 1 10.1
40 frasier syndrome 10.1
41 pelizaeus-merzbacher disease 10.1 MPZ PMP22
42 autoimmune peripheral neuropathy 10.1 GJB1 MPZ
43 brachial plexus neuropathy 10.1 KIF1B PMP22
44 poland syndrome 10.0
45 schizophrenia 10.0
46 strabismus 10.0
47 aceruloplasminemia 10.0
48 beta-thalassemia 10.0
49 charcot-marie-tooth disease, axonal, type 2z 10.0
50 hereditary ataxia 10.0

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b:



Diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Human phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b:

60 33 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
2 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
3 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
4 skeletal muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003202
5 decreased nerve conduction velocity 60 33 frequent (33%) Frequent (79-30%) HP:0000762
6 areflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001284
7 skeletal muscle hypertrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003712
8 peripheral axonal neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0003477
9 increased csf protein 60 33 frequent (33%) Frequent (79-30%) HP:0002922
10 peripheral dysmyelination 60 33 frequent (33%) Frequent (79-30%) HP:0003469
11 kyphoscoliosis 33 frequent (33%) HP:0002751
12 peripheral demyelination 33 frequent (33%) HP:0011096
13 elevated serum creatine kinase 33 frequent (33%) HP:0003236
14 abnormal pupil morphology 33 frequent (33%) HP:0000615
15 motor delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001270
16 sensory impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0003474
17 elevated serum creatine phosphokinase 60 Frequent (79-30%)
18 peripheral neuropathy 33 HP:0009830
19 pes cavus 33 HP:0001761
20 decreased motor nerve conduction velocity 33 HP:0003431
21 abnormality of the pupil 60 Frequent (79-30%)
22 split hand 33 HP:0001171
23 hyporeflexia 33 HP:0001265
24 foot dorsiflexor weakness 33 HP:0009027
25 limb muscle weakness 33 HP:0003690
26 hammertoe 33 HP:0001765
27 distal muscle weakness 33 HP:0002460
28 steppage gait 33 HP:0003376
29 distal amyotrophy 33 HP:0003693
30 distal sensory impairment 33 HP:0002936
31 decreased number of peripheral myelinated nerve fibers 33 HP:0003380
32 hypertrophic nerve changes 33 HP:0003382
33 onion bulb formation 33 HP:0003383
34 tonic pupil 33 HP:0012074
35 cold-induced muscle cramps 33 HP:0003449
36 ulnar claw 33 HP:0001178
37 myelin outfoldings 33 HP:0004336

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes cavus
foot deformities
hammer toes

Head And Neck Eyes:
tonically dilated pupils (in some patients)
adie pupil

Skeletal Hands:
claw hand deformities (in severe cases)

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
hypertrophic nerve changes
distal limb muscle weakness due to peripheral neuropathy
more
Skeletal Spine:
kyphoscoliosis may occur

Clinical features from OMIM:

118200

UMLS symptoms related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b:


seizures, tremor, back pain, pain, headache, syncope, chronic pain, sciatica, tonic pupil, vertigo/dizziness, sleeplessness

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
2 homeostasis/metabolism MP:0005376 9.73 EGR2 GJB1 KIF1B MPZ PMP22 SULT2B1
3 limbs/digits/tail MP:0005371 9.46 EGR2 KIF1B MTMR2 PMP22
4 mortality/aging MP:0010768 9.43 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
5 nervous system MP:0003631 9.1 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Drugs for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
protease inhibitors
2 4-des-dimethylaminotetracycline
3 Matrix Metalloproteinase Inhibitors
4 HIV Protease Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others Recruiting NCT01193075
2 Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study Recruiting NCT03550300
3 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
4 Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases Recruiting NCT02532244

Search NIH Clinical Center for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Genetic Tests for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Genetic tests related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 30 MPZ

Anatomical Context for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b:

42
Skeletal Muscle, Skin

Publications for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Articles related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b:

(show all 44)
# Title Authors Year
1
Generation of a human Charcot-Marie-Tooth disease type 1B (CMT1B) iPSC line, ZJUCHi001-A, with a mutation of c.292C>T in MPZ. ( 30785048 )
2019
2
Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B. ( 29687021 )
2018
3
Effective cauda equina decompression in two siblings with Charcot-Marie-Tooth disease type 1B. ( 27614573 )
2016
4
A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b. ( 27344971 )
2016
5
Late-onset Charcot-Marie-Tooth disease type 1B due to a novel mutation in the extracellular disulfide bridge of MPZ gene. ( 22633464 )
2013
6
Resetting translational homeostasis restores myelination in Charcot-Marie-Tooth disease type 1B mice. ( 23547100 )
2013
7
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. ( 22689911 )
2012
8
A novel MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies. ( 21940171 )
2012
9
MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis. ( 21503568 )
2011
10
U1 snRNA mis-binding: a new cause of CMT1B. ( 19475438 )
2010
11
A patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B. ( 19918771 )
2010
12
Diagnostic nerve ultrasound in Charcot-Marie-Tooth disease type 1B. ( 19533637 )
2009
13
Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families. ( 18422810 )
2008
14
MPZ mutation G123S characterization: evidence for a complex pathogenesis in CMT disease. ( 18209201 )
2008
15
Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B. ( 17030746 )
2006
16
Case records of the Massachusetts General Hospital. Case 18-2006. A 57-year-old woman with numbness and weakness of the feet and legs. ( 16775239 )
2006
17
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B. ( 16488608 )
2006
18
Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease type 1B. ( 16521307 )
2005
19
Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene). ( 15159512 )
2004
20
Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation. ( 15170620 )
2004
21
Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family. ( 12845552 )
2003
22
Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation. ( 12221176 )
2002
23
A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B. ( 11445635 )
2001
24
Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met. ( 10764043 )
2000
25
An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val). ( 11080237 )
2000
26
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. ( 10071056 )
1999
27
Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. ( 10329755 )
1999
28
Myelinated fibers in Charcot-Marie-Tooth disease type 1B with Arg98His mutation of Po protein. ( 10581375 )
1999
29
Mutations of the same sequence of the myelin P0 gene causing two different phenotypes. ( 9452091 )
1998
30
Novel mutation of the myelin P0 gene in a CMT1B family. ( 8990016 )
1997
31
Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease type 1B. ( 9217235 )
1997
32
De novo mutation (Arg98-->Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B. ( 9168174 )
1997
33
High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients. ( 8644725 )
1996
34
A new mutation of the Po gene in patients with Charcot-Marie-Tooth disease type 1B: screening of the Po gene by heteroduplex analysis. ( 8938258 )
1996
35
Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. ( 8664899 )
1996
36
Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene. ( 8835320 )
1995
37
Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B. ( 7550231 )
1995
38
Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B. ( 7530774 )
1994
39
[A familial Charcot-Marie-Tooth disease type 1B (CMTD1B) manifesting a new mutation of myelin P0 gene]. ( 7537189 )
1994
40
Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome. ( 7511317 )
1994
41
Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients. ( 7504284 )
1993
42
Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1. ( 7688964 )
1993
43
Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. ( 7693129 )
1993
44
Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. ( 7693130 )
1993

Variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b:

76 (show top 50) (show all 54)
# Symbol AA change Variation ID SNP ID
1 MPZ p.Ile30Met VAR_004500 rs770546306
2 MPZ p.Val32Phe VAR_004501
3 MPZ p.Thr34Ile VAR_004502
4 MPZ p.Ser44Phe VAR_004503 rs121913598
5 MPZ p.Ser54Cys VAR_004504
6 MPZ p.Ser54Pro VAR_004505
7 MPZ p.Val58Phe VAR_004506
8 MPZ p.Ser63Phe VAR_004509 rs121913585
9 MPZ p.Tyr68Cys VAR_004511
10 MPZ p.Ser78Leu VAR_004512 rs121913601
11 MPZ p.His81Arg VAR_004513 rs121913594
12 MPZ p.Tyr82Cys VAR_004514
13 MPZ p.Asp90Glu VAR_004515 rs121913584
14 MPZ p.Gly93Glu VAR_004516 rs106050341
15 MPZ p.Lys96Glu VAR_004517 rs121913583
16 MPZ p.Arg98Cys VAR_004518 rs121913590
17 MPZ p.Arg98His VAR_004519 rs121913589
18 MPZ p.Arg98Pro VAR_004520 rs121913589
19 MPZ p.Arg98Ser VAR_004521
20 MPZ p.Ile99Thr VAR_004522
21 MPZ p.Trp101Cys VAR_004523
22 MPZ p.Ile112Thr VAR_004524
23 MPZ p.Asn122Ser VAR_004528
24 MPZ p.Thr124Met VAR_004529 rs121913595
25 MPZ p.Asp128Glu VAR_004532
26 MPZ p.Lys130Arg VAR_004534 rs281865127
27 MPZ p.Pro132Leu VAR_004535
28 MPZ p.Asp134Glu VAR_004536
29 MPZ p.Asp134Asn VAR_004537
30 MPZ p.Ile135Leu VAR_004538 rs879253858
31 MPZ p.Ile135Thr VAR_004539 rs121913587
32 MPZ p.Gly137Ser VAR_004540 rs121913588
33 MPZ p.Thr143Met VAR_004541 rs750724650
34 MPZ p.Gly163Arg VAR_004542 rs281865128
35 MPZ p.Gly167Ala VAR_004543
36 MPZ p.Asp35Tyr VAR_015971 rs121913596
37 MPZ p.Ile62Phe VAR_015972 rs121913602
38 MPZ p.Gly103Glu VAR_015976 rs121913600
39 MPZ p.Gly123Cys VAR_015977
40 MPZ p.Ser51Phe VAR_029971
41 MPZ p.Thr65Ile VAR_029974
42 MPZ p.Asp134Gly VAR_029979
43 MPZ p.Lys138Asn VAR_029980
44 MPZ p.Thr139Asn VAR_029981
45 MPZ p.Ser140Thr VAR_029982 rs572010627
46 MPZ p.Tyr145Ser VAR_029983 rs121913603
47 MPZ p.Val146Phe VAR_029984
48 MPZ p.Leu170Arg VAR_029985
49 MPZ p.Thr65Ala VAR_031886
50 MPZ p.Ser78Trp VAR_031887 rs121913601

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b:

6 (show top 50) (show all 105)
# Gene Variation Type Significance SNP ID Assembly Location
1 MPZ NM_000530.7(MPZ): c.286A> G (p.Lys96Glu) single nucleotide variant Pathogenic rs121913583 GRCh37 Chromosome 1, 161276660: 161276660
2 MPZ NM_000530.7(MPZ): c.286A> G (p.Lys96Glu) single nucleotide variant Pathogenic rs121913583 GRCh38 Chromosome 1, 161306870: 161306870
3 MPZ NM_000530.7(MPZ): c.270C> A (p.Asp90Glu) single nucleotide variant Pathogenic rs121913584 GRCh37 Chromosome 1, 161276676: 161276676
4 MPZ NM_000530.7(MPZ): c.270C> A (p.Asp90Glu) single nucleotide variant Pathogenic rs121913584 GRCh38 Chromosome 1, 161306886: 161306886
5 MPZ NM_000530.7(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh37 Chromosome 1, 161276204: 161276204
6 MPZ NM_000530.7(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh38 Chromosome 1, 161306414: 161306414
7 MPZ MPZ, THR216GLU-ARG undetermined variant Pathogenic
8 MPZ NM_000530.6(MPZ): c.404T> C (p.Ile135Thr) single nucleotide variant Pathogenic rs121913587 GRCh37 Chromosome 1, 161276542: 161276542
9 MPZ NM_000530.6(MPZ): c.404T> C (p.Ile135Thr) single nucleotide variant Pathogenic rs121913587 GRCh38 Chromosome 1, 161306752: 161306752
10 MPZ NM_000530.7(MPZ): c.409G> A (p.Gly137Ser) single nucleotide variant Likely pathogenic rs121913588 GRCh37 Chromosome 1, 161276537: 161276537
11 MPZ NM_000530.7(MPZ): c.409G> A (p.Gly137Ser) single nucleotide variant Likely pathogenic rs121913588 GRCh38 Chromosome 1, 161306747: 161306747
12 MPZ NM_000530.7(MPZ): c.293G> C (p.Arg98Pro) single nucleotide variant Pathogenic rs121913589 GRCh37 Chromosome 1, 161276653: 161276653
13 MPZ NM_000530.7(MPZ): c.293G> C (p.Arg98Pro) single nucleotide variant Pathogenic rs121913589 GRCh38 Chromosome 1, 161306863: 161306863
14 MPZ NM_000530.6(MPZ): c.292C> T (p.Arg98Cys) single nucleotide variant Pathogenic rs121913590 GRCh37 Chromosome 1, 161276654: 161276654
15 MPZ NM_000530.6(MPZ): c.292C> T (p.Arg98Cys) single nucleotide variant Pathogenic rs121913590 GRCh38 Chromosome 1, 161306864: 161306864
16 MPZ NM_000530.6(MPZ): c.293G> A (p.Arg98His) single nucleotide variant Pathogenic/Likely pathogenic rs121913589 GRCh37 Chromosome 1, 161276653: 161276653
17 MPZ NM_000530.6(MPZ): c.293G> A (p.Arg98His) single nucleotide variant Pathogenic/Likely pathogenic rs121913589 GRCh38 Chromosome 1, 161306863: 161306863
18 MPZ NM_000530.7(MPZ): c.188C> T (p.Ser63Phe) single nucleotide variant Pathogenic rs121913585 GRCh37 Chromosome 1, 161277094: 161277094
19 MPZ NM_000530.7(MPZ): c.188C> T (p.Ser63Phe) single nucleotide variant Pathogenic rs121913585 GRCh38 Chromosome 1, 161307304: 161307304
20 MPZ NM_000530.7(MPZ): c.242A> G (p.His81Arg) single nucleotide variant Pathogenic rs121913594 GRCh37 Chromosome 1, 161276704: 161276704
21 MPZ NM_000530.7(MPZ): c.242A> G (p.His81Arg) single nucleotide variant Pathogenic rs121913594 GRCh38 Chromosome 1, 161306914: 161306914
22 MPZ NM_000530.7(MPZ): c.371C> T (p.Thr124Met) single nucleotide variant Pathogenic rs121913595 GRCh37 Chromosome 1, 161276575: 161276575
23 MPZ NM_000530.7(MPZ): c.371C> T (p.Thr124Met) single nucleotide variant Pathogenic rs121913595 GRCh38 Chromosome 1, 161306785: 161306785
24 MPZ NM_000530.7(MPZ): c.224A> T (p.Asp75Val) single nucleotide variant Pathogenic rs121913597 GRCh37 Chromosome 1, 161277058: 161277058
25 MPZ NM_000530.7(MPZ): c.224A> T (p.Asp75Val) single nucleotide variant Pathogenic rs121913597 GRCh38 Chromosome 1, 161307268: 161307268
26 MPZ NM_000530.7(MPZ): c.131C> T (p.Ser44Phe) single nucleotide variant Pathogenic rs121913598 GRCh37 Chromosome 1, 161277151: 161277151
27 MPZ NM_000530.7(MPZ): c.131C> T (p.Ser44Phe) single nucleotide variant Pathogenic rs121913598 GRCh38 Chromosome 1, 161307361: 161307361
28 MPZ NM_000530.7(MPZ): c.393C> A (p.Asn131Lys) single nucleotide variant Pathogenic rs121913599 GRCh37 Chromosome 1, 161276553: 161276553
29 MPZ NM_000530.7(MPZ): c.393C> A (p.Asn131Lys) single nucleotide variant Pathogenic rs121913599 GRCh38 Chromosome 1, 161306763: 161306763
30 MPZ NM_000530.7(MPZ): c.308G> A (p.Gly103Glu) single nucleotide variant Likely pathogenic rs121913600 GRCh37 Chromosome 1, 161276638: 161276638
31 MPZ NM_000530.7(MPZ): c.308G> A (p.Gly103Glu) single nucleotide variant Likely pathogenic rs121913600 GRCh38 Chromosome 1, 161306848: 161306848
32 MPZ NM_000530.6(MPZ): c.233C> T (p.Ser78Leu) single nucleotide variant Pathogenic rs121913601 GRCh37 Chromosome 1, 161277049: 161277049
33 MPZ NM_000530.6(MPZ): c.233C> T (p.Ser78Leu) single nucleotide variant Pathogenic rs121913601 GRCh38 Chromosome 1, 161307259: 161307259
34 MPZ NM_000530.6(MPZ): c.434A> C (p.Tyr145Ser) single nucleotide variant Pathogenic rs121913603 GRCh37 Chromosome 1, 161276512: 161276512
35 MPZ NM_000530.6(MPZ): c.434A> C (p.Tyr145Ser) single nucleotide variant Pathogenic rs121913603 GRCh38 Chromosome 1, 161306722: 161306722
36 MPZ NM_000530.7(MPZ): c.367G> A (p.Gly123Ser) single nucleotide variant Pathogenic rs121913608 GRCh37 Chromosome 1, 161276579: 161276579
37 MPZ NM_000530.7(MPZ): c.367G> A (p.Gly123Ser) single nucleotide variant Pathogenic rs121913608 GRCh38 Chromosome 1, 161306789: 161306789
38 MPZ NM_000530.7(MPZ): c.276G> A (p.Val92=) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 161276670: 161276670
39 MPZ NM_000530.7(MPZ): c.276G> A (p.Val92=) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 161306880: 161306880
40 MPZ MPZ, ASP195TYR single nucleotide variant Pathogenic
41 MPZ NM_000530.7(MPZ): c.89T> C (p.Ile30Thr) single nucleotide variant Pathogenic rs281865121 GRCh37 Chromosome 1, 161277193: 161277193
42 MPZ NM_000530.7(MPZ): c.89T> C (p.Ile30Thr) single nucleotide variant Pathogenic rs281865121 GRCh38 Chromosome 1, 161307403: 161307403
43 MPZ NM_000530.7(MPZ): c.175T> A (p.Ser59Thr) single nucleotide variant Pathogenic rs281865122 GRCh37 Chromosome 1, 161277107: 161277107
44 MPZ NM_000530.7(MPZ): c.175T> A (p.Ser59Thr) single nucleotide variant Pathogenic rs281865122 GRCh38 Chromosome 1, 161307317: 161307317
45 MPZ NM_000530.7(MPZ): c.241C> T (p.His81Tyr) single nucleotide variant Pathogenic rs281865123 GRCh37 Chromosome 1, 161276705: 161276705
46 MPZ NM_000530.7(MPZ): c.241C> T (p.His81Tyr) single nucleotide variant Pathogenic rs281865123 GRCh38 Chromosome 1, 161306915: 161306915
47 MPZ NM_000530.7(MPZ): c.244T> C (p.Tyr82His) single nucleotide variant Pathogenic rs281865124 GRCh37 Chromosome 1, 161276702: 161276702
48 MPZ NM_000530.7(MPZ): c.244T> C (p.Tyr82His) single nucleotide variant Pathogenic rs281865124 GRCh38 Chromosome 1, 161306912: 161306912
49 MPZ NM_000530.7(MPZ): c.266T> C (p.Ile89Thr) single nucleotide variant Pathogenic rs267607244 GRCh37 Chromosome 1, 161276680: 161276680
50 MPZ NM_000530.7(MPZ): c.266T> C (p.Ile89Thr) single nucleotide variant Pathogenic rs267607244 GRCh38 Chromosome 1, 161306890: 161306890

Expression for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b.

Pathways for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Pathways related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.81 GJB1 MPZ PMP22

GO Terms for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Biological processes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peripheral nervous system development GO:0007422 9.16 EGR2 PMP22
2 myelin assembly GO:0032288 8.96 MTMR2 PMP22
3 myelination GO:0042552 8.8 EGR2 MPZ PMP22

Sources for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

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
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37 IUPHAR
38 KEGG
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41 LOVD
43 MedGen
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47 MGI
50 NCI
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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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