MCID: CHR527
MIFTS: 48

Charcot-Marie-Tooth Disease, Type 1b 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

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Charcot-Marie-Tooth Disease, Type 1b 50 12
Cmt1b 23 52 68
Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 50 46
Charcot-Marie-Tooth Disease Demyelinating Type 1b 68 25
Hereditary Motor and Sensory Neuropathy 1b 46 23
Charcot-Marie-Tooth Neuropathy Type 1b 23 68
Charcot-Marie-Tooth Disease Type 1b 46 52
Peroneal Muscular Atrophy 46 68
Cmt 1b 46 23
 
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked to Duffy 68
Hereditary Motor and Sensory Neuropathy Ib 68
Charcot-Marie-Tooth Disease, Type Ib 66
Charcot Marie Tooth Disease Type 1b 46
Charcot-Marie-Tooth Disease 1b 68
Charcot-Marie-Tooth Disease 66
Hmsn 1b 46
Hmsn Ib 68
Hmsn1b 68

Characteristics:

Orphanet epidemiological data:

52
cmt1b:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy

HPO:

62
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:

OMIM50 118200
Orphanet52 ORPHA101082
ICD10 via Orphanet29 G60.0
UMLS via Orphanet67 C0270912
MedGen35 C0270912

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

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OMIM:50 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 cmt1b, is related to hereditary motor and sensory neuropathy v 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). Related mouse phenotypes are muscle and nervous system.

UniProtKB/Swiss-Prot:68 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

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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 Type X
Charcot-Marie-Tooth Disease Intermediate Type Charcot-Marie-Tooth Disease Type 5
Charcot-Marie-Tooth Disease Type 7 Charcot-Marie-Tooth Disease Type 2l
Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease Type 2o
Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type a Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C Charcot-Marie-Tooth Disease Type 2h
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type a
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B 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 2p Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Surf1-Related Charcot-Marie-Tooth Disease Type 4 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation
Charcot-Marie-Tooth Disease Type 2t Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Vcp Mutation
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 all 39)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary motor and sensory neuropathy v11.5
2charcot-marie-tooth disease11.0
3tooth disease11.0
4charcot-marie-tooth disease, type 2i10.6CHM, MPZ, NR0B1
5charcot-marie-tooth disease, dominant intermediate d10.6CHM, MPZ, NR0B1
6charcot-marie-tooth disease, type 2j10.5CHM, MPZ, NR0B1
7charcot-marie-tooth disease type 2f10.5KIF1B, MFN2
8charcot-marie-tooth neuropathy type 410.5KIF1B, MFN2
9charcot-marie-tooth disease, type 1e10.4MPZ, NR0B1
10charcot-marie-tooth neuropathy type 2o10.4HSPB8, MPZ
11charcot-marie-tooth disease type 2o10.3HSPB8, MPZ
12neurofibromatosis, type 110.3
13neuropathy10.3
14neurofibromatosis10.3
15charcot-marie-tooth neuropathy type 2e/1f10.2GJB1, MPZ
16potocki-lupski syndrome10.2GJB1, MPZ, NR0B1
17secondary hypertrophic osteoarthropathy10.1GJB1, KIF1B, MPZ
18anal canal adenocarcinoma10.1GJB1, KIF1B, MPZ
19cranial pseudosarcomatous fasciitis10.1GDAP1, MFN2, TRPV4
20hypertonia9.9DNAJB2, GJB1, MFN2, MPZ
21pituitary adenoma, growth hormone-secreting9.9AARS, IGHMBP2, MED25
22angiodysplasia9.8GDAP1, GJB1, KIF1B, MPZ
23early-onset glaucoma9.8HSPB1, HSPB8
24charcot-marie-tooth neuropathy x type 19.7GDAP1, MPZ, SBF1, SH3TC2
25amyotrophic lateral sclerosis type 109.7DNAJB2, MED25
26trachea leiomyoma9.7GJB1, KIF1B, MFN2, MPZ, SH3TC2
27testicular thecoma9.7DYNC1H1, HSPB8, IGHMBP2, TRPV4
28genital herpes9.7GDAP1, GJB1, MFN2, MPZ
29splenic marginal zone lymphoma9.6DYNC1H1, IGHMBP2, TRPV4
30occupational dermatitis9.3GDAP1, GJB1, MFN2, MPZ, SH3TC2, TRPV4
31dejerine-sottas disease9.2CHM, GDAP1, GJB1, KIF1B, MPZ, NR0B1
32neuropathy, congenital hypomyelinating8.2CHM, DNAJB2, GDAP1, HSPB1, HSPB8, KIF1B
33charcot-marie-tooth disease, type 1f7.2AARS, DNAJB2, GDAP1, GJB1, HSPB8, IGHMBP2
34amnestic disorder6.2AARS, GDAP1, GJB1, HSPB1, HSPB8, KIF1B
35thrombophilia due to antithrombin iii deficiency5.1AARS, CHM, DNAJB2, DYNC1H1, GDAP1, HSPB1
36childhood-onset cerebral x-linked adrenoleukodystrophy5.0AARS, DNAJB2, DYNC1H1, GDAP1, GJB1, HSPB1
37charcot-marie-tooth neuropathy type 2a5.0AARS, DNAJB2, DYNC1H1, GDAP1, GJB1, HSPB1
38charcot-marie-tooth neuropathy dominant intermediate f5.0AARS, DNAJB2, DYNC1H1, GDAP1, GJB1, HSPB1
39charcot-marie-tooth disease, type 1b4.6AARS, CHM, DNAJB2, DYNC1H1, GDAP1, GJB1

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 for Charcot-Marie-Tooth Disease, Type 1b

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Symptoms by clinical synopsis from OMIM:

118200

Clinical features from OMIM:

118200

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

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

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

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
protease inhibitors5157
Synonyms:
 
protease inhibitors

Interventional clinical trials:

idNameStatusNCT IDPhase
1Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and OthersRecruitingNCT01193075
2Genetics of Pediatric-Onset Motor Neuron and Neuromuscular DiseasesRecruitingNCT02532244
3Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited NeuropathiesRecruitingNCT02788734

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

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

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

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b25
2 Charcot-Marie-Tooth Neuropathy Type 1b23 MPZ

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

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Animal Models for Charcot-Marie-Tooth Disease, Type 1b or affiliated genes

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

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5AARS, DYNC1H1, HSPB8, IGHMBP2, KIF1B, MFN2
2MP:00036316.8AARS, CHM, DYNC1H1, GDAP1, GJB1, IGHMBP2
3MP:00053766.0CHM, GDAP1, GJB1, HSPB1, HSPB8, IGHMBP2
4MP:00053866.0AARS, DYNC1H1, GDAP1, GJB1, IGHMBP2, KIF1B

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

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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
Late-onset Charcot-Marie-Tooth disease type 1B due to a novel mutation in the extracellular disulfide bridge of MPZ gene. (22633464)
2013
4
Resetting translational homeostasis restores myelination in Charcot-Marie-Tooth disease type 1B mice. (23547100)
2013
5
A novel MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies. (21940171)
2012
6
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. (22689911)
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
Novel mutation of the myelin Po gene in a pedigree with Charcot- Marie-Tooth disease type 1B. (9217235)
1997
16
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
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

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

68 (show all 53)
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.Ile62PheVAR_015972rs121913602
37MPZp.Gly103GluVAR_015976rs121913600
38MPZp.Gly123CysVAR_015977
39MPZp.Ser51PheVAR_029971
40MPZp.Thr65IleVAR_029974
41MPZp.Asp134GlyVAR_029979
42MPZp.Lys138AsnVAR_029980
43MPZp.Thr139AsnVAR_029981
44MPZp.Ser140ThrVAR_029982rs572010627
45MPZp.Tyr145SerVAR_029983rs121913603
46MPZp.Val146PheVAR_029984
47MPZp.Leu170ArgVAR_029985
48MPZp.Thr65AlaVAR_031886
49MPZp.Ser78TrpVAR_031887
50MPZp.Asp109AsnVAR_031889
51MPZp.His39ProVAR_054393rs371856018
52MPZp.Asp224TyrVAR_054397rs267607247
53MPZp.Arg227SerVAR_054398

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

5 (show all 87)
id Gene Variation Type Significance SNP ID Assembly Location
1MED25NM_030973.3(MED25): c.1004C> T (p.Ala335Val)single nucleotide variantPathogenicrs145770066GRCh37Chr 19, 50334047: 50334047
2MPZNM_000530.7(MPZ): c.286A> G (p.Lys96Glu)single nucleotide variantPathogenicrs121913583GRCh37Chr 1, 161276660: 161276660
3MPZNM_000530.7(MPZ): c.270C> A (p.Asp90Glu)single nucleotide variantPathogenicrs121913584GRCh37Chr 1, 161276676: 161276676
4MPZMPZ, 3-BP DEL, SER34DELdeletionPathogenic
5MPZNM_000530.7(MPZ): c.499G> C (p.Gly167Arg)single nucleotide variantPathogenicrs121913586GRCh37Chr 1, 161276204: 161276204
6MPZMPZ, THR216GLU-ARGundetermined variantPathogenic
7MPZNM_000530.7(MPZ): c.404T> C (p.Ile135Thr)single nucleotide variantPathogenicrs121913587GRCh37Chr 1, 161276542: 161276542
8MPZNM_000530.7(MPZ): c.409G> A (p.Gly137Ser)single nucleotide variantPathogenicrs121913588GRCh37Chr 1, 161276537: 161276537
9MPZNM_000530.7(MPZ): c.293G> C (p.Arg98Pro)single nucleotide variantPathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
10MPZNM_000530.7(MPZ): c.292C> T (p.Arg98Cys)single nucleotide variantPathogenicrs121913590GRCh37Chr 1, 161276654: 161276654
11MPZNM_000530.7(MPZ): c.293G> A (p.Arg98His)single nucleotide variantPathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
12MPZNM_000530.7(MPZ): c.188C> T (p.Ser63Phe)single nucleotide variantPathogenicrs121913585GRCh37Chr 1, 161277094: 161277094
13MPZNM_000530.7(MPZ): c.242A> G (p.His81Arg)single nucleotide variantPathogenicrs121913594GRCh37Chr 1, 161276704: 161276704
14MPZNM_000530.7(MPZ): c.371C> T (p.Thr124Met)single nucleotide variantPathogenicrs121913595GRCh37Chr 1, 161276575: 161276575
15MPZNM_000530.7(MPZ): c.224A> T (p.Asp75Val)single nucleotide variantPathogenicrs121913597GRCh37Chr 1, 161277058: 161277058
16MPZNM_000530.7(MPZ): c.131C> T (p.Ser44Phe)single nucleotide variantPathogenicrs121913598GRCh37Chr 1, 161277151: 161277151
17MPZNM_000530.7(MPZ): c.393C> A (p.Asn131Lys)single nucleotide variantPathogenicrs121913599GRCh37Chr 1, 161276553: 161276553
18MPZNM_000530.7(MPZ): c.308G> A (p.Gly103Glu)single nucleotide variantPathogenicrs121913600GRCh37Chr 1, 161276638: 161276638
19MPZNM_000530.7(MPZ): c.233C> T (p.Ser78Leu)single nucleotide variantPathogenicrs121913601GRCh37Chr 1, 161277049: 161277049
20MPZNM_000530.7(MPZ): c.434A> C (p.Tyr145Ser)single nucleotide variantPathogenicrs121913603GRCh37Chr 1, 161276512: 161276512
21MPZMPZ, IVS4DS, T-G, +2single nucleotide variantPathogenic
22MPZNM_000530.7(MPZ): c.367G> A (p.Gly123Ser)single nucleotide variantPathogenicrs121913608GRCh37Chr 1, 161276579: 161276579
23MPZMPZ, VAL102VALsingle nucleotide variantPathogenic
24MPZMPZ, ASP195TYRsingle nucleotide variantPathogenic
25LMNANM_170707.3(LMNA): c.1579C> T (p.Arg527Cys)single nucleotide variantPathogenicrs57318642GRCh37Chr 1, 156106994: 156106994
26LMNANM_170707.3(LMNA): c.398G> T (p.Arg133Leu)single nucleotide variantPathogenicrs60864230GRCh37Chr 1, 156100449: 156100449
27LMNANM_170707.3(LMNA): c.892C> T (p.Arg298Cys)single nucleotide variantPathogenicrs59885338GRCh37Chr 1, 156105059: 156105059
28LMNANM_170707.3(LMNA): c.1411C> T (p.Arg471Cys)single nucleotide variantPathogenicrs28928902GRCh37Chr 1, 156106742: 156106742
29MARSNM_004990.3(MARS): c.1852C> T (p.Arg618Cys)single nucleotide variantPathogenicrs587777718GRCh37Chr 12, 57906632: 57906632
30GJB1NM_000166.5(GJB1): c.688C> T (p.Arg230Cys)single nucleotide variantLikely pathogenic, Pathogenicrs587781246GRCh38Chr X, 71224395: 71224395
31HSPB1NM_001540.3(HSPB1): c.380G> T (p.Arg127Leu)single nucleotide variantPathogenicrs587781250GRCh38Chr 7, 76303817: 76303817
32SBF1NM_002972.3(SBF1): c.1327G> A (p.Asp443Asn)single nucleotide variantLikely pathogenic, Pathogenicrs690016543GRCh37Chr 22, 50903435: 50903435
33IGHMBP2NM_002180.2(IGHMBP2): c.138T> A (p.Cys46Ter)single nucleotide variantPathogenicrs372000714GRCh38Chr 11, 68906120: 68906120
34IGHMBP2NM_002180.2(IGHMBP2): c.2911_2912delAG (p.Arg971Glufs)deletionLikely pathogenic, Pathogenicrs724159994GRCh38Chr 11, 68939660: 68939661
35IGHMBP2NM_002180.2(IGHMBP2): c.604T> G (p.Phe202Val)single nucleotide variantPathogenicrs724159958GRCh38Chr 11, 68911496: 68911496
36DNAJB2NM_001039550.1(DNAJB2): c.229+1G> Asingle nucleotide variantPathogenicrs730882139GRCh37Chr 2, 220146494: 220146494
37DNAJB2NM_001039550.1(DNAJB2): c.14A> G (p.Tyr5Cys)single nucleotide variantPathogenicrs730882140GRCh37Chr 2, 220144569: 220144569
38MARSNM_004990.3(MARS): c.2398C> A (p.Pro800Thr)single nucleotide variantPathogenicrs781249411GRCh37Chr 12, 57909709: 57909709
39AARSNM_001605.2(AARS): c.2333A> C (p.Glu778Ala)single nucleotide variantPathogenicrs797044801GRCh38Chr 16, 70254688: 70254688
40LRSAM1NM_138361.5(LRSAM1): c.1913-1G> Asingle nucleotide variantPathogenicrs756880678GRCh37Chr 9, 130263288: 130263288
41IGHMBP2NM_002180.2(IGHMBP2): c.1591C> A (p.Pro531Thr)single nucleotide variantPathogenicrs756985703GRCh38Chr 11, 68934517: 68934517
42IGHMBP2NM_002180.2(IGHMBP2): c.449+1G> Tsingle nucleotide variantPathogenicrs797044802GRCh38Chr 11, 68908338: 68908338
43IGHMBP2NM_002180.2(IGHMBP2): c.2784+1G> Tsingle nucleotide variantPathogenicrs797044803GRCh38Chr 11, 68938355: 68938355
44MPZNM_000530.7(MPZ): c.181G> A (p.Asp61Asn)single nucleotide variantPathogenicrs797044845GRCh37Chr 1, 161277101: 161277101
45MPZNM_000530.7(MPZ): c.241C> T (p.His81Tyr)single nucleotide variantPathogenicrs281865123GRCh37Chr 1, 161276705: 161276705
46MPZNM_000530.7(MPZ): c.487G> A (p.Gly163Arg)single nucleotide variantPathogenicrs281865128GRCh38Chr 1, 161306426: 161306426
47MPZNM_000530.7(MPZ): c.499G> A (p.Gly167Arg)single nucleotide variantPathogenicrs121913586GRCh37Chr 1, 161276204: 161276204
48MPZNP_000521.1: p.Asn116Serprotein onlyPathogenic
49MPZNM_000530.7(MPZ): c.451C> A (p.Pro151Thr)single nucleotide variantLikely pathogenicrs754068936GRCh38Chr 1, 161306462: 161306462
50MPZNM_000530.7(MPZ): c.116A> C (p.His39Pro)single nucleotide variantPathogenicrs371856018GRCh38Chr 1, 161307376: 161307376
51MPZNM_000530.7(MPZ): c.410G> A (p.Gly137Asp)single nucleotide variantPathogenicrs863225025GRCh37Chr 1, 161276536: 161276536
52MPZNM_000530.7(MPZ): c.646-10_650deldeletionPathogenicrs863225026GRCh37Chr 1, 161275763: 161275777
53MPZNM_000530.7(MPZ): c.90C> G (p.Ile30Met)single nucleotide variantPathogenicrs770546306GRCh37Chr 1, 161277192: 161277192
54MFN2NM_014874.3(MFN2): c.310C> T (p.Arg104Trp)single nucleotide variantPathogenicrs119103268GRCh37Chr 1, 12052746: 12052746
55MPZNC_000001.10: g.161275598_161279773dup4176duplicationLikely pathogenicGRCh37Chr 1, 161275598: 161279773
56NC_000001.10: g.161279434_161299373del19940deletionLikely pathogenicGRCh37Chr 1, 161279434: 161299373
57MPZNM_000530.7(MPZ): c.403A> C (p.Ile135Leu)single nucleotide variantPathogenicGRCh37Chr 1, 161276543: 161276543
58SH3TC2NM_024577.3(SH3TC2): c.2860C> T (p.Arg954Ter)single nucleotide variantPathogenicrs80338933GRCh37Chr 5, 148406435: 148406435
59HSPB8NM_014365.2(HSPB8): c.423G> C (p.Lys141Asn)single nucleotide variantPathogenicrs104894345GRCh37Chr 12, 119624885: 119624885
60HSPB8NM_014365.2(HSPB8): c.421A> G (p.Lys141Glu)single nucleotide variantPathogenicrs104894351GRCh37Chr 12, 119624883: 119624883
61HSPB8NM_014365.2(HSPB8): c.423G> T (p.Lys141Asn)single nucleotide variantPathogenicrs104894345GRCh37Chr 12, 119624885: 119624885
62DYNC1H1NM_001376.4(DYNC1H1): c.917A> G (p.His306Arg)single nucleotide variantPathogenicrs387906738GRCh37Chr 14, 102446843: 102446843
63LRSAM1NM_138361.5(LRSAM1): c.2121_2122dupGC (p.Leu708Argfs)duplicationPathogenicrs786200930GRCh37Chr 9, 130265127: 130265128
64MPZNM_000530.7(MPZ): c.89T> C (p.Ile30Thr)single nucleotide variantPathogenicrs281865121GRCh37Chr 1, 161277193: 161277193
65MPZNM_000530.7(MPZ): c.175T> A (p.Ser59Thr)single nucleotide variantPathogenicrs281865122GRCh37Chr 1, 161277107: 161277107
66MPZNM_000530.7(MPZ): c.241C> T (p.His81Tyr)single nucleotide variantPathogenicrs281865123GRCh37Chr 1, 161276705: 161276705
67MPZNM_000530.7(MPZ): c.244T> C (p.Tyr82His)single nucleotide variantPathogenicrs281865124GRCh37Chr 1, 161276702: 161276702
68MPZNM_000530.7(MPZ): c.266T> C (p.Ile89Thr)single nucleotide variantPathogenicrs267607244GRCh37Chr 1, 161276680: 161276680
69MPZNM_000530.7(MPZ): c.306delA (p.Asp104Thrfs)deletionPathogenicrs281865125GRCh37Chr 1, 161276640: 161276640
70MPZNM_000530.7(MPZ): c.337G> T (p.Val113Phe)single nucleotide variantPathogenicrs281865126GRCh37Chr 1, 161276609: 161276609
71MPZNM_000530.7(MPZ): c.389A> G (p.Lys130Arg)single nucleotide variantPathogenicrs281865127GRCh37Chr 1, 161276557: 161276557
72MPZNM_000530.7(MPZ): c.487G> C (p.Gly163Arg)single nucleotide variantPathogenicrs281865128GRCh37Chr 1, 161276216: 161276216
73MPZNM_000530.7(MPZ): c.588dupT (p.Met197Tyrfs)duplicationPathogenicrs281865129GRCh37Chr 1, 161275955: 161275955
74MPZNM_000530.7(MPZ): c.670G> T (p.Asp224Tyr)single nucleotide variantPathogenicrs267607247GRCh37Chr 1, 161275743: 161275743
75MPZNM_000530.7(MPZ): c.164G> T (p.Ser55Ile)single nucleotide variantPathogenicrs281865133GRCh37Chr 1, 161277118: 161277118
76MPZNM_000530.7(MPZ): c.347A> G (p.Asn116Ser)single nucleotide variantPathogenicrs281865130GRCh37Chr 1, 161276599: 161276599
77MPZNM_000530.7(MPZ): c.645+1G> Tsingle nucleotide variantPathogenicrs281865131GRCh37Chr 1, 161275897: 161275897
78MPZNM_000530.7(MPZ): c.649C> T (p.Pro217Ser)single nucleotide variantPathogenicrs281865132GRCh37Chr 1, 161275764: 161275764
79GDAP1NM_018972.2(GDAP1): c.358C> T (p.Arg120Trp)single nucleotide variantPathogenicrs104894078GRCh37Chr 8, 75272419: 75272419
80KIF1BNM_015074.3(KIF1B): c.293A> T (p.Gln98Leu)single nucleotide variantPathogenicrs121908160GRCh37Chr 1, 10318660: 10318660
81TRPV4NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp)single nucleotide variantPathogenicrs267607143GRCh37Chr 12, 110236628: 110236628
82TRPV4NM_021625.4(TRPV4): c.806G> A (p.Arg269His)single nucleotide variantPathogenicrs267607144GRCh37Chr 12, 110238470: 110238470
83TRPV4NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys)single nucleotide variantPathogenicrs267607145GRCh37Chr 12, 110236625: 110236625
84TRPV4NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys)single nucleotide variantPathogenicrs267607146GRCh37Chr 12, 110238471: 110238471
85LMNANM_170707.3(LMNA): c.1908C> T (p.Ser636=)single nucleotide variantPathogenicrs80356814GRCh37Chr 1, 156108488: 156108488
86AARSNM_001605.2(AARS): c.986G> A (p.Arg329His)single nucleotide variantPathogenicrs267606621GRCh37Chr 16, 70302259: 70302259
87IGHMBP2NM_002180.2(IGHMBP2): c.1738G> A (p.Val580Ile)single nucleotide variantPathogenicrs137852667GRCh37Chr 11, 68702872: 68702872

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

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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

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

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial fusionGO:000805310.1GDAP1, MFN2
2response to unfolded proteinGO:00069869.4DNAJB2, HSPB1, MFN2

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

idNameGO IDScoreTop Affiliating Genes
1tRNA bindingGO:00000499.8AARS, IGHMBP2, MARS

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet