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

About this section

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

Name: Charcot-Marie-Tooth Disease, Type 1b 52 12
Charcot-Marie-Tooth Disease Type 1b 11 48 54 13
Cmt1b 11 24 54 70
Charcot-Marie-Tooth Neuropathy Type 1b 11 24 70
Peroneal Muscular Atrophy 11 48 70
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked to Duffy 11 70
Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 52 48
Charcot-Marie-Tooth Disease Demyelinating Type 1b 70 27
Hereditary Motor and Sensory Neuropathy 1b 48 24
Hereditary Motor and Sensory Neuropathy Ib 11 70
 
Hmsn Ib 11 70
Hmsn1b 11 70
Cmt 1b 48 24
Autosomal Dominant Charcot-Marie-Tooth Disease with Focally Folded Myelin Sheaths Type 1b 11
Charcot-Marie-Tooth Disease, Type Ib 68
Charcot Marie Tooth Disease Type 1b 48
Charcot-Marie-Tooth Disease 1b 70
Charcot-Marie-Tooth Disease 68
Hmsn 1b 48

Characteristics:

Orphanet epidemiological data:

54
charcot-marie-tooth disease type 1b:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy

HPO:

64
charcot-marie-tooth disease, type 1b:
Inheritance: autosomal dominant inheritance, heterogeneous
Onset and clinical course: insidious onset, juvenile onset, slow progression, variable expressivity

Classifications:



External Ids:

OMIM52 118200
Disease Ontology11 DOID:0110152
ICD1030 G60.0
Orphanet54 ORPHA101082
ICD10 via Orphanet31 G60.0
UMLS via Orphanet69 C0270912
MedGen37 C0270912

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

About this section
OMIM:52 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 back pain, headache and pain. An important gene associated with Charcot-Marie-Tooth Disease, Type 1b is MPZ (Myelin Protein Zero), and among its related pathways is Neural Crest Differentiation. Related mouse phenotypes are muscle and homeostasis/metabolism.

Disease Ontology:11 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:70 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

About this section

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)
idRelated DiseaseScoreTop Affiliating Genes
1roussy-levy syndrome11.3
2charcot-marie-tooth disease10.8
3tooth disease10.8
4hereditary type 2 neuropathy10.2MPZ, PMP22
5neurofibromatosis, type 110.2
6neuropathy10.2
7neurofibromatosis10.2
8charcot-marie-tooth disease, type 2i10.2KIF1B, MPZ
9craniorachischisis10.2MPZ, PMP22
10charcot-marie-tooth disease, dominant intermediate d10.2KIF1B, MPZ
11hypertonia10.2MPZ, PMP22
12aortic aneurysm, familial thoracic 410.1KIF1B, MPZ
13von economo's disease10.1MPZ, PMP22
14methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type10.1KIF1B, MPZ
15mohr-tranebjaerg syndrome10.1MPZ, PMP22
16aneurysmal bone cysts10.1KIF1B, TRPV4
17non-gestational choriocarcinoma10.1MPZ, PMP22
18chondrodysplasia punctata 2, x-linked10.1KIF1B, TRPV4
19choreatic disease10.1MPZ, PMP22
20white piedra10.1MPZ, PMP22
21status epilepticus10.0MPZ, PMP22
22chrna1-related congenital myasthenic syndrome10.0GJB1, MPZ, PMP22
23surfactant metabolism dysfunction, pulmonary, 210.0GJB1, MPZ, PMP22
24classic galactosemia and clinical variant galactosemia10.0GJB1, MPZ, PMP22
25charles bonnet syndrome10.0KIF1B, MFN2
26phototoxic dermatitis10.0MPZ, PMP22, TRPV4
27charcot-marie-tooth disease, type 2a110.0KIF1B, MFN2
28hereditary motor and sensory neuropathy via10.0MFN2, PMP22
29williams-beuren syndrome10.0GJB1, KIF1B, MPZ
30cold-induced sweating syndrome including crisponi syndrome10.0KIF1B, MFN2
31dilated cardiomyopathy9.9MPZ, PMP22
32substance-induced psychosis9.9GJB1, MPZ, PMP22
33spermatogenic failure, x-linked, 29.9GDAP1, GJB1, MPZ
34pneumonic plague9.8GJB1, KIF1B, MPZ, PMP22
35hypertrophic osteoarthropathy, primary, autosomal recessive 29.8GJB1, KIF1B, MPZ, PMP22
36acute sanguinous otitis media9.8GJB1, KIF1B, MPZ, PMP22
37nephrolithiasis, uric acid9.8GJB1, KIF1B, MPZ, PMP22
38charcot-marie-tooth disease, type 1e9.8GJB1, KIF1B, MPZ, PMP22
39ovarian stromal hyperthecosis9.8MFN2, PMP22, TRPV4
40deafness, autosomal recessive 769.8GDAP1, GJB1, MPZ, PMP22
41pituitary adenoma, prolactin-secreting9.7MFN2, MPZ, PMP22, TRPV4
42korsakoff's amnesic syndrome9.7GJB1, MFN2, MPZ, PMP22
43potocki-lupski syndrome9.6GDAP1, GJB1, KIF1B, MPZ, PMP22
44neuropathy, congenital hypomyelinating9.6GDAP1, GJB1, KIF1B, MPZ, PMP22
45mitochondrial complex v deficiency, nuclear type 29.6GDAP1, KIF1B, MFN2, TRPV4
465-oxoprolinase deficiency9.5GDAP1, GJB1, MFN2, TRPV4
47chkb-related muscle diseases9.5GDAP1, GJB1, MFN2, MPZ, PMP22
48senile angioma9.5GDAP1, GJB1, MFN2, MPZ, PMP22
49uterine ligament serous adenocarcinoma9.5GDAP1, GJB1, MFN2, MPZ, PMP22
50neuropathy, inflammatory demyelinating9.3GDAP1, 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

About this section

Symptoms by clinical synopsis from OMIM:

118200

Clinical features from OMIM:

118200

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

 64 (show all 20)
id Description HPO Frequency HPO Source Accession
1 split hand64 HP:0001171
2 ulnar claw64 HP:0001178
3 hyporeflexia64 HP:0001265
4 areflexia64 HP:0001284
5 pes cavus64 HP:0001761
6 hammertoe64 HP:0001765
7 distal muscle weakness64 HP:0002460
8 kyphoscoliosis64 HP:0002751
9 distal sensory impairment64 HP:0002936
10 steppage gait64 HP:0003376
11 decreased number of peripheral myelinated nerve fibers64 HP:0003380
12 hypertrophic nerve changes64 HP:0003382
13 onion bulb formation64 HP:0003383
14 decreased motor nerve conduction velocity64 HP:0003431
15 cold-induced muscle cramps64 HP:0003449
16 distal amyotrophy64 HP:0003693
17 myelin outfoldings64 HP:0004336
18 foot dorsiflexor weakness64 HP:0009027
19 peripheral demyelination64 HP:0011096
20 tonic pupil64 HP:0012074

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 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.0KIF1B, MFN2, PMP22, TRPV4
2MP:00053767.9GDAP1, GJB1, KIF1B, MFN2, MPZ, TRPV4
3MP:00053867.6GDAP1, GJB1, KIF1B, MFN2, MPZ, PMP22
4MP:00036316.7GDAP1, GJB1, KIF1B, MFN2, MPZ, PMP22

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

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
protease inhibitors5471
Synonyms:
 
protease inhibitors
2Matrix Metalloproteinase Inhibitors19
3HIV Protease Inhibitors5470
44-des-dimethylaminotetracycline9

Interventional clinical trials:

idNameStatusNCT IDPhase
1Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and OthersUnknown statusNCT01193075
2Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited NeuropathiesCompletedNCT02788734
3Genetics of Pediatric-Onset Motor Neuron and Neuromuscular DiseasesRecruitingNCT02532244

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

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

About this section

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

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b27
2 Charcot-Marie-Tooth Neuropathy Type 1b24 MPZ

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

About this section

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

About this section

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

(show all 21)
idTitleAuthorsYear
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

About this section

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

70 (show all 54)
id Symbol AA change Variation ID SNP ID
1MPZp.Ile30MetVAR_004500
2MPZp.Val32PheVAR_004501
3MPZp.Thr34IleVAR_004502
4MPZp.Ser44PheVAR_004503rs121913598
5MPZp.Ser54CysVAR_004504
6MPZp.Ser54ProVAR_004505
7MPZp.Val58PheVAR_004506
8MPZp.Ser63PheVAR_004509rs121913585
9MPZp.Tyr68CysVAR_004511
10MPZp.Ser78LeuVAR_004512rs121913601
11MPZp.His81ArgVAR_004513rs121913594
12MPZp.Tyr82CysVAR_004514
13MPZp.Asp90GluVAR_004515rs121913584
14MPZp.Gly93GluVAR_004516
15MPZp.Lys96GluVAR_004517rs121913583
16MPZp.Arg98CysVAR_004518rs121913590
17MPZp.Arg98HisVAR_004519rs121913589
18MPZp.Arg98ProVAR_004520rs121913589
19MPZp.Arg98SerVAR_004521
20MPZp.Ile99ThrVAR_004522
21MPZp.Trp101CysVAR_004523
22MPZp.Ile112ThrVAR_004524
23MPZp.Asn122SerVAR_004528
24MPZp.Thr124MetVAR_004529rs121913595
25MPZp.Asp128GluVAR_004532
26MPZp.Lys130ArgVAR_004534rs281865127
27MPZp.Pro132LeuVAR_004535
28MPZp.Asp134GluVAR_004536
29MPZp.Asp134AsnVAR_004537
30MPZp.Ile135LeuVAR_004538
31MPZp.Ile135ThrVAR_004539rs121913587
32MPZp.Gly137SerVAR_004540rs121913588
33MPZp.Thr143MetVAR_004541rs750724650
34MPZp.Gly163ArgVAR_004542rs281865128
35MPZp.Gly167AlaVAR_004543
36MPZp.Asp35TyrVAR_015971rs121913596
37MPZp.Ile62PheVAR_015972rs121913602
38MPZp.Gly103GluVAR_015976rs121913600
39MPZp.Gly123CysVAR_015977
40MPZp.Ser51PheVAR_029971
41MPZp.Thr65IleVAR_029974
42MPZp.Asp134GlyVAR_029979
43MPZp.Lys138AsnVAR_029980
44MPZp.Thr139AsnVAR_029981
45MPZp.Ser140ThrVAR_029982rs572010627
46MPZp.Tyr145SerVAR_029983rs121913603
47MPZp.Val146PheVAR_029984
48MPZp.Leu170ArgVAR_029985
49MPZp.Thr65AlaVAR_031886
50MPZp.Ser78TrpVAR_031887
51MPZp.Asp109AsnVAR_031889
52MPZp.His39ProVAR_054393rs371856018
53MPZp.Asp224TyrVAR_054397rs267607247
54MPZp.Arg227SerVAR_054398

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

5 (show all 47)
id Gene Variation Type Significance SNP ID Assembly Location
1MPZNM_ 000530.7(MPZ): c.286A> G (p.Lys96Glu)SNVPathogenicrs121913583GRCh37Chr 1, 161276660: 161276660
2MPZNM_ 000530.7(MPZ): c.270C> A (p.Asp90Glu)SNVPathogenicrs121913584GRCh37Chr 1, 161276676: 161276676
3MPZMPZ, 3-BP DEL, SER34DELdeletionPathogenic
4MPZNM_ 000530.7(MPZ): c.499G> C (p.Gly167Arg)SNVPathogenicrs121913586GRCh37Chr 1, 161276204: 161276204
5MPZMPZ, THR216GLU-ARGundetermined variantPathogenic
6MPZNM_ 000530.7(MPZ): c.404T> C (p.Ile135Thr)SNVPathogenicrs121913587GRCh37Chr 1, 161276542: 161276542
7MPZNM_ 000530.7(MPZ): c.409G> A (p.Gly137Ser)SNVPathogenic/ Likely pathogenicrs121913588GRCh37Chr 1, 161276537: 161276537
8MPZNM_ 000530.7(MPZ): c.293G> C (p.Arg98Pro)SNVPathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
9MPZNM_ 000530.7(MPZ): c.292C> T (p.Arg98Cys)SNVPathogenicrs121913590GRCh37Chr 1, 161276654: 161276654
10MPZNM_ 000530.7(MPZ): c.293G> A (p.Arg98His)SNVPathogenic/ Likely pathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
11MPZNM_ 000530.7(MPZ): c.188C> T (p.Ser63Phe)SNVPathogenicrs121913585GRCh37Chr 1, 161277094: 161277094
12MPZNM_ 000530.7(MPZ): c.242A> G (p.His81Arg)SNVPathogenicrs121913594GRCh37Chr 1, 161276704: 161276704
13MPZNM_ 000530.7(MPZ): c.371C> T (p.Thr124Met)SNVPathogenicrs121913595GRCh37Chr 1, 161276575: 161276575
14MPZNM_ 000530.7(MPZ): c.224A> T (p.Asp75Val)SNVPathogenicrs121913597GRCh37Chr 1, 161277058: 161277058
15MPZNM_ 000530.7(MPZ): c.131C> T (p.Ser44Phe)SNVPathogenicrs121913598GRCh37Chr 1, 161277151: 161277151
16MPZNM_ 000530.7(MPZ): c.393C> A (p.Asn131Lys)SNVPathogenicrs121913599GRCh37Chr 1, 161276553: 161276553
17MPZNM_ 000530.7(MPZ): c.308G> A (p.Gly103Glu)SNVPathogenicrs121913600GRCh37Chr 1, 161276638: 161276638
18MPZNM_ 000530.7(MPZ): c.233C> T (p.Ser78Leu)SNVPathogenicrs121913601GRCh37Chr 1, 161277049: 161277049
19MPZNM_ 000530.7(MPZ): c.434A> C (p.Tyr145Ser)SNVPathogenicrs121913603GRCh37Chr 1, 161276512: 161276512
20MPZMPZ, IVS4DS, T-G, +2SNVPathogenic
21MPZNM_ 000530.7(MPZ): c.367G> A (p.Gly123Ser)SNVPathogenicrs121913608GRCh37Chr 1, 161276579: 161276579
22MPZMPZ, VAL102VALSNVPathogenic
23MPZMPZ, ASP195TYRSNVPathogenic
24MPZNM_ 000530.7(MPZ): c.181G> A (p.Asp61Asn)SNVPathogenicrs797044845GRCh37Chr 1, 161277101: 161277101
25MPZNM_ 000530.7(MPZ): c.241C> T (p.His81Tyr)SNV, HaplotypePathogenicrs281865123GRCh37Chr 1, 161276705: 161276705
26MPZNM_ 000530.7(MPZ): c.487G> A (p.Gly163Arg)SNVPathogenicrs281865128GRCh38Chr 1, 161306426: 161306426
27MPZNM_ 000530.7(MPZ): c.499G> A (p.Gly167Arg)SNVPathogenicrs121913586GRCh37Chr 1, 161276204: 161276204
28MPZNP_ 000521.1(MPZ): p.Asn116Serprotein onlyPathogenic
29MPZNM_ 000530.7(MPZ): c.451C> A (p.Pro151Thr)SNVLikely pathogenicrs754068936GRCh38Chr 1, 161306462: 161306462
30MPZNM_ 000530.7(MPZ): c.116A> C (p.His39Pro)SNVPathogenicrs371856018GRCh38Chr 1, 161307376: 161307376
31MPZNM_ 000530.7(MPZ): c.410G> A (p.Gly137Asp)SNVPathogenicrs863225025GRCh37Chr 1, 161276536: 161276536
32MPZNM_ 000530.7(MPZ): c.646-10_ 650deldeletionPathogenicrs863225026GRCh37Chr 1, 161275763: 161275777
33MPZNC_ 000001.10: g.161275598_ 161279773dup4176duplicationLikely pathogenicGRCh37Chr 1, 161275598: 161279773
34MPZNC_ 000001.10: g.161279434_ 161299373del19940deletionLikely pathogenicGRCh37Chr 1, 161279434: 161299373
35MPZNM_ 000530.7(MPZ): c.403A> C (p.Ile135Leu)SNVPathogenicrs879253858GRCh37Chr 1, 161276543: 161276543
36MPZNM_ 000530.7(MPZ): c.89T> C (p.Ile30Thr)SNVPathogenicrs281865121GRCh37Chr 1, 161277193: 161277193
37MPZNM_ 000530.7(MPZ): c.175T> A (p.Ser59Thr)SNVPathogenicrs281865122GRCh37Chr 1, 161277107: 161277107
38MPZNM_ 000530.7(MPZ): c.244T> C (p.Tyr82His)SNVPathogenicrs281865124GRCh37Chr 1, 161276702: 161276702
39MPZNM_ 000530.7(MPZ): c.266T> C (p.Ile89Thr)SNVPathogenicrs267607244GRCh37Chr 1, 161276680: 161276680
40MPZNM_ 000530.7(MPZ): c.306delA (p.Asp104Thrfs)deletionPathogenicrs281865125GRCh37Chr 1, 161276640: 161276640
41MPZNM_ 000530.7(MPZ): c.487G> C (p.Gly163Arg)SNVPathogenic/ Likely pathogenicrs281865128GRCh37Chr 1, 161276216: 161276216
42MPZNM_ 000530.7(MPZ): c.588dupT (p.Met197Tyrfs)duplicationPathogenicrs281865129GRCh37Chr 1, 161275955: 161275955
43MPZNM_ 000530.7(MPZ): c.670G> T (p.Asp224Tyr)SNVPathogenicrs267607247GRCh37Chr 1, 161275743: 161275743
44MPZNM_ 000530.7(MPZ): c.164G> T (p.Ser55Ile)SNVPathogenicrs281865133GRCh37Chr 1, 161277118: 161277118
45MPZNM_ 000530.7(MPZ): c.347A> G (p.Asn116Ser)SNVPathogenicrs281865130GRCh37Chr 1, 161276599: 161276599
46MPZNM_ 000530.7(MPZ): c.645+1G> TSNVPathogenicrs281865131GRCh37Chr 1, 161275897: 161275897
47MPZNM_ 000530.7(MPZ): c.649C> T (p.Pro217Ser)SNVPathogenicrs281865132GRCh37Chr 1, 161275764: 161275764

Expression for genes affiliated with Charcot-Marie-Tooth Disease, Type 1b

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

Pathways for genes affiliated with Charcot-Marie-Tooth Disease, Type 1b

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.2GJB1, MPZ, PMP22

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1myelinationGO:004255210.2MPZ, PMP22
2negative regulation of neuron projection developmentGO:001097710.0PMP22, TRPV4
3mitochondrial fusionGO:00080539.6GDAP1, MFN2
4protein targeting to mitochondrionGO:00066269.0GDAP1, MFN2

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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet