CMT1B
MCID: CHR527
MIFTS: 49

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

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

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

Aliases & Descriptions for Charcot-Marie-Tooth Disease, Type 1b:

Name: Charcot-Marie-Tooth Disease, Type 1b 54 13
Charcot-Marie-Tooth Disease Type 1b 12 50 56 14
Cmt1b 12 24 56 66
Charcot-Marie-Tooth Neuropathy Type 1b 12 24 66
Peroneal Muscular Atrophy 12 50 66
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked to Duffy 12 66
Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 54 50
Charcot-Marie-Tooth Disease Demyelinating Type 1b 66 29
Hereditary Motor and Sensory Neuropathy Ib 12 66
Hereditary Motor and Sensory Neuropathy 1b 50 24
Hmsn Ib 12 66
Hmsn1b 12 66
Cmt 1b 50 24
Autosomal Dominant Charcot-Marie-Tooth Disease with Focally Folded Myelin Sheaths Type 1b 12
Charcot-Marie-Tooth Disease, Type Ib 69
Charcot Marie Tooth Disease Type 1b 50
Charcot-Marie-Tooth Disease 1b 66
Charcot-Marie-Tooth Disease 69
Hmsn 1b 50

Characteristics:

Orphanet epidemiological data:

56
charcot-marie-tooth disease type 1b
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

HPO:

32
charcot-marie-tooth disease, type 1b:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course variable expressivity juvenile onset slow progression insidious onset


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 118200
Disease Ontology 12 DOID:0110152
ICD10 33 G60.0
Orphanet 56 ORPHA101082
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 70 C0270912
MedGen 40 C0270912

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

OMIM : 54 Charcot-Marie-Tooth disease is a sensorineural peripheral polyneuropathy. Affecting approximately 1 in 2,500... (118200) more...

MalaCards based summary : Charcot-Marie-Tooth Disease, Type 1b, also known as charcot-marie-tooth disease type 1b, is related to roussy-levy syndrome and charcot-marie-tooth disease, and has symptoms including tonic pupil, pes cavus and decreased motor nerve conduction velocity. An important gene associated with Charcot-Marie-Tooth Disease, 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 behavior/neurological and homeostasis/metabolism

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).

UniProtKB/Swiss-Prot : 66 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.

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

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 2a1 Charcot-Marie-Tooth Disease, Type 2a2
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Type 2b1 Charcot-Marie-Tooth Disease, Type 1b
Charcot-Marie-Tooth Disease, Type 2j Charcot-Marie-Tooth Disease, Type 2i
Charcot-Marie-Tooth Disease, Type 2b Charcot-Marie-Tooth Disease, Type 2r
Charcot-Marie-Tooth Disease, Type 4c Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Type 2d Charcot-Marie-Tooth Disease, Type 2e
Charcot-Marie-Tooth Disease, Type 1f Charcot-Marie-Tooth Disease, Type 4a
Charcot-Marie-Tooth Disease, Recessive Intermediate, a Charcot-Marie-Tooth Disease, Type 4d
Charcot-Marie-Tooth Disease, Type 1d Charcot-Marie-Tooth Disease, Dominant Intermediate a
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 1c
Charcot-Marie-Tooth Disease, Recessive Intermediate, B Charcot-Marie-Tooth Disease, Type 1a
Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Type 4f Charcot-Marie-Tooth Disease, Type 2b2
Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 4k 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 Recessive Charcot Marie Tooth Disease Type 2x Autosomal Dominant Charcot-Marie-Tooth Disease Type 2z
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Charcot-Marie-Tooth Disease Type 2t
Pmp2-Related Charcot-Marie-Tooth Disease Type 1 Charcot-Marie-Tooth Disease 2a2b
Charcot-Marie-Tooth Disease 2z

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

(show top 50) (show all 59)
id Related Disease Score Top Affiliating Genes
1 roussy-levy syndrome 11.3
2 charcot-marie-tooth disease 10.8
3 tooth disease 10.8
4 hereditary type 2 neuropathy 10.2 MPZ PMP22
5 neurofibromatosis, type 1 10.2
6 neuropathy 10.2
7 neurofibromatosis 10.2
8 charcot-marie-tooth disease, type 2i 10.2 KIF1B MPZ
9 craniorachischisis 10.2 MPZ PMP22
10 charcot-marie-tooth disease, dominant intermediate d 10.2 KIF1B MPZ
11 hypertonia 10.2 MPZ PMP22
12 aortic aneurysm, familial thoracic 4 10.1 KIF1B MPZ
13 von economo's disease 10.1 MPZ PMP22
14 methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type 10.1 KIF1B MPZ
15 mohr-tranebjaerg syndrome 10.1 MPZ PMP22
16 aneurysmal bone cysts 10.1 KIF1B TRPV4
17 non-gestational choriocarcinoma 10.1 MPZ PMP22
18 chondrodysplasia punctata 2, x-linked 10.1 KIF1B TRPV4
19 choreatic disease 10.1 MPZ PMP22
20 white piedra 10.1 MPZ PMP22
21 status epilepticus 10.0 MPZ PMP22
22 chrna1-related congenital myasthenic syndrome 10.0 GJB1 MPZ PMP22
23 surfactant metabolism dysfunction, pulmonary, 2 10.0 GJB1 MPZ PMP22
24 classic galactosemia and clinical variant galactosemia 10.0 GJB1 MPZ PMP22
25 charles bonnet syndrome 10.0 KIF1B MFN2
26 phototoxic dermatitis 10.0 MPZ PMP22 TRPV4
27 charcot-marie-tooth disease, type 2a1 10.0 KIF1B MFN2
28 hereditary motor and sensory neuropathy via 10.0 MFN2 PMP22
29 williams-beuren syndrome 10.0 GJB1 KIF1B MPZ
30 cold-induced sweating syndrome including crisponi syndrome 10.0 KIF1B MFN2
31 substance-induced psychosis 9.9 GJB1 MPZ PMP22
32 dilated cardiomyopathy 9.9 MPZ PMP22
33 spermatogenic failure, x-linked, 2 9.9 GDAP1 GJB1 MPZ
34 pneumonic plague 9.8 GJB1 KIF1B MPZ PMP22
35 hypertrophic osteoarthropathy, primary, autosomal recessive 2 9.8 GJB1 KIF1B MPZ PMP22
36 acute sanguinous otitis media 9.8 GJB1 KIF1B MPZ PMP22
37 nephrolithiasis, uric acid 9.8 GJB1 KIF1B MPZ PMP22
38 charcot-marie-tooth disease, type 1e 9.8 GJB1 KIF1B MPZ PMP22
39 ovarian stromal hyperthecosis 9.8 MFN2 PMP22 TRPV4
40 deafness, autosomal recessive 76 9.8 GDAP1 GJB1 MPZ PMP22
41 pituitary adenoma, prolactin-secreting 9.7 MFN2 MPZ PMP22 TRPV4
42 korsakoff's amnesic syndrome 9.7 GJB1 MFN2 MPZ PMP22
43 potocki-lupski syndrome 9.6 GDAP1 GJB1 KIF1B MPZ PMP22
44 neuropathy, congenital hypomyelinating 9.6 GDAP1 GJB1 KIF1B MPZ PMP22
45 mitochondrial complex v deficiency, nuclear type 2 9.6 GDAP1 KIF1B MFN2 TRPV4
46 5-oxoprolinase deficiency 9.5 GDAP1 GJB1 MFN2 TRPV4
47 chkb-related muscle diseases 9.5 GDAP1 GJB1 MFN2 MPZ PMP22
48 senile angioma 9.5 GDAP1 GJB1 MFN2 MPZ PMP22
49 uterine ligament serous adenocarcinoma 9.5 GDAP1 GJB1 MFN2 MPZ PMP22
50 neuropathy, inflammatory demyelinating 9.3 GDAP1 GJB1 KIF1B MFN2 MPZ PMP22

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



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

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

Symptoms by clinical synopsis from OMIM:

118200

Clinical features from OMIM:

118200

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

32 (show all 20)
id Description HPO Frequency HPO Source Accession
1 tonic pupil 32 HP:0012074
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 kyphoscoliosis 32 HP:0002751
8 hammertoe 32 HP:0001765
9 distal muscle weakness 32 HP:0002460
10 steppage gait 32 HP:0003376
11 distal sensory impairment 32 HP:0002936
12 distal amyotrophy 32 HP:0003693
13 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
14 hypertrophic nerve changes 32 HP:0003382
15 foot dorsiflexor weakness 32 HP:0009027
16 peripheral demyelination 32 HP:0011096
17 ulnar claw 32 HP:0001178
18 onion bulb formation 32 HP:0003383
19 cold-induced muscle cramps 32 HP:0003449
20 myelin outfoldings 32 HP:0004336

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 GDAP1 GJB1 KIF1B MFN2 MPZ PMP22
2 homeostasis/metabolism MP:0005376 9.63 GDAP1 GJB1 KIF1B MFN2 MPZ TRPV4
3 muscle MP:0005369 9.26 KIF1B MFN2 PMP22 TRPV4
4 nervous system MP:0003631 9.17 KIF1B MFN2 MPZ PMP22 TRPV4 GDAP1

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

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


id 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:


id Name Status NCT ID Phase
1 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others Unknown status NCT01193075
2 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
3 Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases Recruiting NCT02532244

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

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

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

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 29
2 Charcot-Marie-Tooth Neuropathy Type 1b 24 MPZ

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

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

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

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

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

66 (show top 50) (show all 54)
id Symbol AA change Variation ID SNP ID
1 MPZ p.Ile30Met VAR_004500
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
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, Type 1b:

6 (show all 47)
id 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.270C> A (p.Asp90Glu) single nucleotide variant Pathogenic rs121913584 GRCh37 Chromosome 1, 161276676: 161276676
3 MPZ MPZ, 3-BP DEL, SER34DEL deletion Pathogenic
4 MPZ NM_000530.7(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh37 Chromosome 1, 161276204: 161276204
5 MPZ MPZ, THR216GLU-ARG undetermined variant Pathogenic
6 MPZ NM_000530.7(MPZ): c.404T> C (p.Ile135Thr) single nucleotide variant Pathogenic rs121913587 GRCh37 Chromosome 1, 161276542: 161276542
7 MPZ NM_000530.7(MPZ): c.409G> A (p.Gly137Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121913588 GRCh37 Chromosome 1, 161276537: 161276537
8 MPZ NM_000530.7(MPZ): c.293G> C (p.Arg98Pro) single nucleotide variant Pathogenic rs121913589 GRCh37 Chromosome 1, 161276653: 161276653
9 MPZ NM_000530.7(MPZ): c.292C> T (p.Arg98Cys) single nucleotide variant Pathogenic rs121913590 GRCh37 Chromosome 1, 161276654: 161276654
10 MPZ NM_000530.7(MPZ): c.293G> A (p.Arg98His) single nucleotide variant Pathogenic/Likely pathogenic rs121913589 GRCh37 Chromosome 1, 161276653: 161276653
11 MPZ NM_000530.7(MPZ): c.188C> T (p.Ser63Phe) single nucleotide variant Pathogenic rs121913585 GRCh37 Chromosome 1, 161277094: 161277094
12 MPZ NM_000530.7(MPZ): c.242A> G (p.His81Arg) single nucleotide variant Pathogenic rs121913594 GRCh37 Chromosome 1, 161276704: 161276704
13 MPZ NM_000530.7(MPZ): c.371C> T (p.Thr124Met) single nucleotide variant Pathogenic rs121913595 GRCh37 Chromosome 1, 161276575: 161276575
14 MPZ NM_000530.7(MPZ): c.224A> T (p.Asp75Val) single nucleotide variant Pathogenic rs121913597 GRCh37 Chromosome 1, 161277058: 161277058
15 MPZ NM_000530.7(MPZ): c.131C> T (p.Ser44Phe) single nucleotide variant Pathogenic rs121913598 GRCh37 Chromosome 1, 161277151: 161277151
16 MPZ NM_000530.7(MPZ): c.393C> A (p.Asn131Lys) single nucleotide variant Pathogenic rs121913599 GRCh37 Chromosome 1, 161276553: 161276553
17 MPZ NM_000530.7(MPZ): c.308G> A (p.Gly103Glu) single nucleotide variant Pathogenic rs121913600 GRCh37 Chromosome 1, 161276638: 161276638
18 MPZ NM_000530.7(MPZ): c.233C> T (p.Ser78Leu) single nucleotide variant Pathogenic rs121913601 GRCh37 Chromosome 1, 161277049: 161277049
19 MPZ NM_000530.7(MPZ): c.434A> C (p.Tyr145Ser) single nucleotide variant Pathogenic rs121913603 GRCh37 Chromosome 1, 161276512: 161276512
20 MPZ MPZ, IVS4DS, T-G, +2 single nucleotide variant Pathogenic
21 MPZ NM_000530.7(MPZ): c.367G> A (p.Gly123Ser) single nucleotide variant Pathogenic rs121913608 GRCh37 Chromosome 1, 161276579: 161276579
22 MPZ MPZ, VAL102VAL single nucleotide variant Pathogenic
23 MPZ MPZ, ASP195TYR single nucleotide variant Pathogenic
24 MPZ NM_000530.7(MPZ): c.89T> C (p.Ile30Thr) single nucleotide variant Pathogenic rs281865121 GRCh37 Chromosome 1, 161277193: 161277193
25 MPZ NM_000530.7(MPZ): c.175T> A (p.Ser59Thr) single nucleotide variant Pathogenic rs281865122 GRCh37 Chromosome 1, 161277107: 161277107
26 MPZ NM_000530.7(MPZ): c.241C> T (p.His81Tyr) single nucleotide variant Pathogenic rs281865123 GRCh37 Chromosome 1, 161276705: 161276705
27 MPZ NM_000530.7(MPZ): c.244T> C (p.Tyr82His) single nucleotide variant Pathogenic rs281865124 GRCh37 Chromosome 1, 161276702: 161276702
28 MPZ NM_000530.7(MPZ): c.266T> C (p.Ile89Thr) single nucleotide variant Pathogenic rs267607244 GRCh37 Chromosome 1, 161276680: 161276680
29 MPZ NM_000530.7(MPZ): c.306delA (p.Asp104Thrfs) deletion Pathogenic rs281865125 GRCh37 Chromosome 1, 161276640: 161276640
30 MPZ NM_000530.7(MPZ): c.487G> C (p.Gly163Arg) single nucleotide variant Pathogenic/Likely pathogenic rs281865128 GRCh37 Chromosome 1, 161276216: 161276216
31 MPZ NM_000530.7(MPZ): c.588dupT (p.Met197Tyrfs) duplication Pathogenic rs281865129 GRCh37 Chromosome 1, 161275955: 161275955
32 MPZ NM_000530.7(MPZ): c.670G> T (p.Asp224Tyr) single nucleotide variant Pathogenic rs267607247 GRCh37 Chromosome 1, 161275743: 161275743
33 MPZ NM_000530.7(MPZ): c.164G> T (p.Ser55Ile) single nucleotide variant Pathogenic rs281865133 GRCh37 Chromosome 1, 161277118: 161277118
34 MPZ NM_000530.7(MPZ): c.347A> G (p.Asn116Ser) single nucleotide variant Pathogenic rs281865130 GRCh37 Chromosome 1, 161276599: 161276599
35 MPZ NM_000530.7(MPZ): c.645+1G> T single nucleotide variant Pathogenic rs281865131 GRCh37 Chromosome 1, 161275897: 161275897
36 MPZ NM_000530.7(MPZ): c.649C> T (p.Pro217Ser) single nucleotide variant Pathogenic rs281865132 GRCh37 Chromosome 1, 161275764: 161275764
37 MPZ NM_000530.7(MPZ): c.499G> A (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh37 Chromosome 1, 161276204: 161276204
38 MPZ NM_000530.7(MPZ): c.487G> A (p.Gly163Arg) single nucleotide variant Pathogenic rs281865128 GRCh38 Chromosome 1, 161306426: 161306426
39 MPZ NM_000530.7(MPZ): c.181G> A (p.Asp61Asn) single nucleotide variant Pathogenic rs797044845 GRCh37 Chromosome 1, 161277101: 161277101
40 MPZ NP_000521.1(MPZ): p.Asn116Ser protein only Pathogenic
41 MPZ NM_000530.7(MPZ): c.451C> A (p.Pro151Thr) single nucleotide variant Likely pathogenic rs754068936 GRCh38 Chromosome 1, 161306462: 161306462
42 MPZ NM_000530.7(MPZ): c.646-10_650del deletion Pathogenic rs863225026 GRCh37 Chromosome 1, 161275763: 161275777
43 MPZ NM_000530.7(MPZ): c.410G> A (p.Gly137Asp) single nucleotide variant Pathogenic rs863225025 GRCh37 Chromosome 1, 161276536: 161276536
44 MPZ NM_000530.7(MPZ): c.116A> C (p.His39Pro) single nucleotide variant Pathogenic rs371856018 GRCh38 Chromosome 1, 161307376: 161307376
45 MPZ NC_000001.10: g.161275598_161279773dup4176 duplication Likely pathogenic GRCh37 Chromosome 1, 161275598: 161279773
46 MPZ NC_000001.10: g.161279434_161299373del19940 deletion Likely pathogenic GRCh37 Chromosome 1, 161279434: 161299373
47 MPZ NM_000530.7(MPZ): c.403A> C (p.Ile135Leu) single nucleotide variant Pathogenic rs879253858 GRCh37 Chromosome 1, 161276543: 161276543

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

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

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

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

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

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

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

id Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron projection development GO:0010977 9.26 PMP22 TRPV4
2 myelination GO:0042552 9.16 MPZ PMP22
3 protein targeting to mitochondrion GO:0006626 8.96 GDAP1 MFN2
4 mitochondrial fusion GO:0008053 8.62 GDAP1 MFN2

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

3 CDC
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
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34 ICD10 via Orphanet
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37 KEGG
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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