CMT1B
MCID: CHR625
MIFTS: 47

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

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Fetal 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 57 53 29 6
Charcot-Marie-Tooth Disease Type 1b 12 53 59 15
Peroneal Muscular Atrophy 57 12 53 75
Cmt1b 57 12 59 75
Hereditary Motor and Sensory Neuropathy Ib 57 12 75
Hmsn Ib 57 12 75
Hmsn1b 57 12 75
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked to Duffy 12 75
Charcot-Marie-Tooth Neuropathy Type 1b 12 75
Charcot-Marie-Tooth Disease, Type 1b 57 13
Charcot-Marie-Tooth Disease, Type Ib 40 73
Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1b 57
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 57
Hereditary Motor and Sensory Neuropathy Ib; Hmsn Ib 57
Hereditary Motor and Sensory Neuropathy I; Hmsn I 57
Charcot-Marie-Tooth Disease Demyelinating Type 1b 75
Hereditary Motor and Sensory Neuropathy Type I 73
Hereditary Motor and Sensory Neuropathy 1b 53
Hereditary Motor and Sensory Neuropathy I 57
Charcot-Marie-Tooth Neuropathy, Type 1b 57
Charcot Marie Tooth Disease Type 1b 53
Charcot-Marie-Tooth Disease 1b 75
Charcot-Marie-Tooth Disease 73
Hmsn Type I 55
Hmsn 1b 53
Hmsn I 57
Cmt 1b 53
Hmsn1 57

Characteristics:

Orphanet epidemiological data:

59
charcot-marie-tooth disease type 1b
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

57
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:

32
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: 59  
Rare neurological diseases


External Ids:

OMIM 57 118200
Disease Ontology 12 DOID:0110152
ICD10 33 G60.0
Orphanet 59 ORPHA101082
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 74 C0270912
MedGen 42 C0270912

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

UniProtKB/Swiss-Prot : 75 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 back pain, headache and 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 4-des-dimethylaminotetracycline and HIV Protease Inhibitors have been mentioned in the context of this disorder. Related phenotypes are peripheral neuropathy and pes cavus

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 : 57 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)

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

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 51)
# 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 31.5 GJB1 MPZ
3 charcot-marie-tooth disease, demyelinating, type 1c 31.1 KIF1B MPZ PMP22
4 neuropathy 28.2 EGR2 GJB1 MPZ PMP22
5 charcot-marie-tooth disease, demyelinating, type 1a 27.9 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
6 charcot-marie-tooth disease and deafness 26.8 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
7 charcot-marie-tooth disease, demyelinating, type 1d 26.8 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
8 tooth disease 26.5 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
9 charcot-marie-tooth disease 26.5 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
10 charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita 12.2
11 charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined 12.2
12 charcot-marie-tooth disease, axonal, type 2a1 10.8
13 hereditary motor and sensory neuropathy v 10.8
14 charcot-marie-tooth disease, axonal, type 2b1 10.8
15 charcot-marie-tooth disease, axonal, type 2b2 10.8
16 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 10.8
17 hereditary neuropathy with liability to pressure palsy 10.4 MPZ PMP22
18 congenital hypomyelination neuropathy 10.4 MPZ PMP22
19 foot drop 10.4 MPZ PMP22
20 charcot-marie-tooth disease, axonal, type 2i 10.3 KIF1B MPZ
21 charcot-marie-tooth disease, axonal, type 2j 10.3 KIF1B MPZ
22 chronic inflammatory demyelinating polyradiculoneuropathy 10.3 MPZ PMP22
23 polyradiculoneuropathy 10.2 MPZ PMP22
24 pelizaeus-merzbacher disease 10.2 MPZ PMP22
25 charcot-marie-tooth disease, axonal, type 2l 10.2 KIF1B MPZ
26 guillain-barre syndrome 10.2 MPZ PMP22
27 type i 10.1
28 neuritis 10.1 MPZ PMP22
29 diabetic neuropathy 10.1 MPZ PMP22
30 neuromuscular disease 10.0 MPZ PMP22
31 charcot-marie-tooth disease, x-linked recessive, 2 10.0 GJB1 SULT2B1
32 charcot-marie-tooth disease, x-linked recessive, 3 9.9 GJB1 SULT2B1
33 polyneuropathy 9.9 MPZ PMP22
34 charcot-marie-tooth disease, axonal, type 2q 9.9 EGR2 MPZ
35 charcot-marie-tooth disease, demyelinating, type 1f 9.8 GJB1 MPZ PMP22
36 cauda equina syndrome 9.8 EGR2 PMP22
37 charcot-marie-tooth disease, axonal, type 2f 9.8 GJB1 KIF1B MPZ
38 hereditary motor and sensory neuropathy, type iic 9.8 GJB1 KIF1B MPZ
39 amyotrophic neuralgia 9.7 GJB1 KIF1B PMP22
40 brachial plexus neuropathy 9.7 GJB1 KIF1B PMP22
41 hereditary neuropathies 9.2 GJB1 MPZ MTMR2 PMP22
42 sensory peripheral neuropathy 9.2 GJB1 MPZ MTMR2 PMP22
43 trehalase deficiency 9.0 GJB1 MPZ PMP22
44 charcot-marie-tooth neuropathy type 1 8.9 EGR2 GJB1 MPZ PMP22
45 motor peripheral neuropathy 8.7 GJB1 KIF1B MPZ MTMR2 PMP22
46 neuropathy, hereditary, with liability to pressure palsies 8.4 EGR2 GJB1 KIF1B MPZ PMP22
47 peripheral nervous system disease 8.3 EGR2 GJB1 MPZ MTMR2 PMP22
48 charcot-marie-tooth disease, axonal, type 2b 7.6 EGR2 GJB1 KIF1B MPZ PMP22 SULT2B1
49 hypertrophic neuropathy of dejerine-sottas 7.0 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
50 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 7.0 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 peripheral neuropathy 32 HP:0009830
2 pes cavus 32 HP:0001761
3 decreased motor nerve conduction velocity 32 HP:0003431
4 areflexia 32 HP:0001284
5 split hand 32 HP:0001171
6 hyporeflexia 32 HP:0001265
7 foot dorsiflexor weakness 32 HP:0009027
8 peripheral demyelination 32 frequent (33%) HP:0011096
9 kyphoscoliosis 32 frequent (33%) HP:0002751
10 hammertoe 32 HP:0001765
11 distal muscle weakness 32 HP:0002460
12 steppage gait 32 HP:0003376
13 limb muscle weakness 32 HP:0003690
14 distal amyotrophy 32 HP:0003693
15 distal sensory impairment 32 HP:0002936
16 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
17 hypertrophic nerve changes 32 HP:0003382
18 onion bulb formation 32 HP:0003383
19 cold-induced muscle cramps 32 HP:0003449
20 tonic pupil 32 HP:0012074
21 ulnar claw 32 HP:0001178
22 myelin outfoldings 32 HP:0004336

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


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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 GJB1 KIF1B MPZ MTMR2 PMP22 EGR2
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 4-des-dimethylaminotetracycline
2 HIV Protease Inhibitors
3 Matrix Metalloproteinase Inhibitors
4
protease inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
2 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others Recruiting NCT01193075
3 Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases Recruiting NCT02532244
4 Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study Not yet recruiting NCT03550300

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 29 MPZ

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

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

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

(show all 22)
# Title Authors Year
1
Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B. ( 29687021 )
2018
2
A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b. ( 27344971 )
2016
3
Effective cauda equina decompression in two siblings with Charcot-Marie-Tooth disease type 1B. ( 27614573 )
2016
4
Late-onset Charcot-Marie-Tooth disease type 1B due to a novel mutation in the extracellular disulfide bridge of MPZ gene. ( 22633464 )
2013
5
Resetting translational homeostasis restores myelination in Charcot-Marie-Tooth disease type 1B mice. ( 23547100 )
2013
6
A novel MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies. ( 21940171 )
2012
7
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. ( 22689911 )
2012
8
MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis. ( 21503568 )
2011
9
A patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B. ( 19918771 )
2010
10
Diagnostic nerve ultrasound in Charcot-Marie-Tooth disease type 1B. ( 19533637 )
2009
11
Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families. ( 18422810 )
2008
12
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B. ( 16488608 )
2006
13
Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease type 1B. ( 16521307 )
2005
14
Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation. ( 15170620 )
2004
15
Myelinated fibers in Charcot-Marie-Tooth disease type 1B with Arg98His mutation of Po protein. ( 10581375 )
1999
16
Novel mutation of the myelin Po gene in a pedigree with Charcot- Marie-Tooth disease type 1B. ( 9217235 )
1997
17
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
18
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
19
Mutations in the myelin protein zero gene associated with Charcot- Marie-Tooth disease type 1B. ( 7550231 )
1995
20
[A familial Charcot-Marie-Tooth disease type 1B (CMTD1B) manifesting a new mutation of myelin P0 gene]. ( 7537189 )
1994
21
Linkage and mutation analysis in an extended family with Charcot- Marie-Tooth disease type 1B. ( 7530774 )
1994
22
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:

75 (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
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

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

6
(show top 50) (show all 90)
# 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 MPZ, 3-BP DEL, SER34DEL deletion Pathogenic
6 MPZ NM_000530.7(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh37 Chromosome 1, 161276204: 161276204
7 MPZ NM_000530.7(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh38 Chromosome 1, 161306414: 161306414
8 MPZ MPZ, THR216GLU-ARG undetermined variant Pathogenic
9 MPZ NM_000530.7(MPZ): c.404T> C (p.Ile135Thr) single nucleotide variant Pathogenic rs121913587 GRCh37 Chromosome 1, 161276542: 161276542
10 MPZ NM_000530.7(MPZ): c.404T> C (p.Ile135Thr) single nucleotide variant Pathogenic rs121913587 GRCh38 Chromosome 1, 161306752: 161306752
11 MPZ NM_000530.7(MPZ): c.409G> A (p.Gly137Ser) single nucleotide variant Likely pathogenic rs121913588 GRCh37 Chromosome 1, 161276537: 161276537
12 MPZ NM_000530.7(MPZ): c.409G> A (p.Gly137Ser) single nucleotide variant Likely pathogenic rs121913588 GRCh38 Chromosome 1, 161306747: 161306747
13 MPZ NM_000530.7(MPZ): c.293G> C (p.Arg98Pro) single nucleotide variant Pathogenic rs121913589 GRCh37 Chromosome 1, 161276653: 161276653
14 MPZ NM_000530.7(MPZ): c.293G> C (p.Arg98Pro) single nucleotide variant Pathogenic rs121913589 GRCh38 Chromosome 1, 161306863: 161306863
15 MPZ NM_000530.7(MPZ): c.292C> T (p.Arg98Cys) single nucleotide variant Pathogenic rs121913590 GRCh37 Chromosome 1, 161276654: 161276654
16 MPZ NM_000530.7(MPZ): c.292C> T (p.Arg98Cys) single nucleotide variant Pathogenic rs121913590 GRCh38 Chromosome 1, 161306864: 161306864
17 MPZ NM_000530.7(MPZ): c.293G> A (p.Arg98His) single nucleotide variant Pathogenic/Likely pathogenic rs121913589 GRCh37 Chromosome 1, 161276653: 161276653
18 MPZ NM_000530.7(MPZ): c.293G> A (p.Arg98His) single nucleotide variant Pathogenic/Likely pathogenic rs121913589 GRCh38 Chromosome 1, 161306863: 161306863
19 MPZ NM_000530.7(MPZ): c.188C> T (p.Ser63Phe) single nucleotide variant Pathogenic rs121913585 GRCh37 Chromosome 1, 161277094: 161277094
20 MPZ NM_000530.7(MPZ): c.188C> T (p.Ser63Phe) single nucleotide variant Pathogenic rs121913585 GRCh38 Chromosome 1, 161307304: 161307304
21 MPZ NM_000530.7(MPZ): c.242A> G (p.His81Arg) single nucleotide variant Pathogenic rs121913594 GRCh37 Chromosome 1, 161276704: 161276704
22 MPZ NM_000530.7(MPZ): c.242A> G (p.His81Arg) single nucleotide variant Pathogenic rs121913594 GRCh38 Chromosome 1, 161306914: 161306914
23 MPZ NM_000530.7(MPZ): c.371C> T (p.Thr124Met) single nucleotide variant Pathogenic rs121913595 GRCh37 Chromosome 1, 161276575: 161276575
24 MPZ NM_000530.7(MPZ): c.371C> T (p.Thr124Met) single nucleotide variant Pathogenic rs121913595 GRCh38 Chromosome 1, 161306785: 161306785
25 MPZ NM_000530.7(MPZ): c.224A> T (p.Asp75Val) single nucleotide variant Pathogenic rs121913597 GRCh37 Chromosome 1, 161277058: 161277058
26 MPZ NM_000530.7(MPZ): c.224A> T (p.Asp75Val) single nucleotide variant Pathogenic rs121913597 GRCh38 Chromosome 1, 161307268: 161307268
27 MPZ NM_000530.7(MPZ): c.131C> T (p.Ser44Phe) single nucleotide variant Pathogenic rs121913598 GRCh37 Chromosome 1, 161277151: 161277151
28 MPZ NM_000530.7(MPZ): c.131C> T (p.Ser44Phe) single nucleotide variant Pathogenic rs121913598 GRCh38 Chromosome 1, 161307361: 161307361
29 MPZ NM_000530.7(MPZ): c.393C> A (p.Asn131Lys) single nucleotide variant Pathogenic rs121913599 GRCh37 Chromosome 1, 161276553: 161276553
30 MPZ NM_000530.7(MPZ): c.393C> A (p.Asn131Lys) single nucleotide variant Pathogenic rs121913599 GRCh38 Chromosome 1, 161306763: 161306763
31 MPZ NM_000530.7(MPZ): c.233C> T (p.Ser78Leu) single nucleotide variant Pathogenic rs121913601 GRCh37 Chromosome 1, 161277049: 161277049
32 MPZ NM_000530.7(MPZ): c.233C> T (p.Ser78Leu) single nucleotide variant Pathogenic rs121913601 GRCh38 Chromosome 1, 161307259: 161307259
33 MPZ NM_000530.7(MPZ): c.434A> C (p.Tyr145Ser) single nucleotide variant Pathogenic rs121913603 GRCh37 Chromosome 1, 161276512: 161276512
34 MPZ NM_000530.7(MPZ): c.434A> C (p.Tyr145Ser) single nucleotide variant Pathogenic rs121913603 GRCh38 Chromosome 1, 161306722: 161306722
35 MPZ MPZ, IVS4DS, T-G, +2 single nucleotide variant Pathogenic
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 MPZ, VAL102VAL single nucleotide variant Pathogenic
39 MPZ MPZ, ASP195TYR single nucleotide variant Pathogenic
40 MPZ NM_000530.7(MPZ): c.89T> C (p.Ile30Thr) single nucleotide variant Pathogenic rs281865121 GRCh37 Chromosome 1, 161277193: 161277193
41 MPZ NM_000530.7(MPZ): c.89T> C (p.Ile30Thr) single nucleotide variant Pathogenic rs281865121 GRCh38 Chromosome 1, 161307403: 161307403
42 MPZ NM_000530.7(MPZ): c.175T> A (p.Ser59Thr) single nucleotide variant Pathogenic rs281865122 GRCh37 Chromosome 1, 161277107: 161277107
43 MPZ NM_000530.7(MPZ): c.175T> A (p.Ser59Thr) single nucleotide variant Pathogenic rs281865122 GRCh38 Chromosome 1, 161307317: 161307317
44 MPZ NM_000530.7(MPZ): c.241C> T (p.His81Tyr) single nucleotide variant Pathogenic rs281865123 GRCh37 Chromosome 1, 161276705: 161276705
45 MPZ NM_000530.7(MPZ): c.241C> T (p.His81Tyr) single nucleotide variant Pathogenic rs281865123 GRCh38 Chromosome 1, 161306915: 161306915
46 MPZ NM_000530.7(MPZ): c.244T> C (p.Tyr82His) single nucleotide variant Pathogenic rs281865124 GRCh37 Chromosome 1, 161276702: 161276702
47 MPZ NM_000530.7(MPZ): c.244T> C (p.Tyr82His) single nucleotide variant Pathogenic rs281865124 GRCh38 Chromosome 1, 161306912: 161306912
48 MPZ NM_000530.7(MPZ): c.266T> C (p.Ile89Thr) single nucleotide variant Pathogenic rs267607244 GRCh37 Chromosome 1, 161276680: 161276680
49 MPZ NM_000530.7(MPZ): c.266T> C (p.Ile89Thr) single nucleotide variant Pathogenic rs267607244 GRCh38 Chromosome 1, 161306890: 161306890
50 MPZ NM_000530.7(MPZ): c.306delA (p.Asp104Thrfs) deletion Pathogenic rs281865125 GRCh37 Chromosome 1, 161276640: 161276640

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 8.96 EGR2 PMP22
2 myelination GO:0042552 8.8 EGR2 MPZ PMP22

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

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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