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:
49OMIM, 11diseasecard, 65UMLS, 45NIH Rare Diseases, 67UniProtKB/Swiss-Prot, 51Orphanet, 22GeneTests, 24GTR, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

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

Name: Charcot-Marie-Tooth Disease, Type 1b 49 11
Cmt1b 22 51 67
Hereditary Motor and Sensory Neuropathy 1b 45 22
Charcot-Marie-Tooth Neuropathy Type 1b 22 67
Charcot-Marie-Tooth Disease Type 1b 45 51
Charcot-Marie-Tooth Disease 1b 67 24
Peroneal Muscular Atrophy 45 67
Cmt 1b 45 22
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked to Duffy 67
 
Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 45
Charcot-Marie-Tooth Disease Demyelinating Type 1b 67
Hereditary Motor and Sensory Neuropathy Ib 67
Charcot-Marie-Tooth Disease, Type Ib 65
Charcot Marie Tooth Disease Type 1b 45
Charcot-Marie-Tooth Disease 65
Hmsn Ib 67
Hmsn 1b 45
Hmsn1b 67

Characteristics:

Orphanet epidemiological data:

51
cmt1b:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: young Adult

HPO:

61
charcot-marie-tooth disease, type 1b:
Onset and clinical course: variable expressivity, slow progression, juvenile onset, insidious onset
Inheritance: heterogeneous, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 118200
Orphanet51 101082
ICD10 via Orphanet28 G60.0
UMLS via Orphanet66 C0270912
MedGen34 C0270912
UMLS65 C0270912

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

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OMIM:49 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 charcot-marie-tooth disease and hereditary motor and sensory neuropathy v, and has symptoms including tonic pupil, peripheral demyelination and foot dorsiflexor weakness. An important gene associated with Charcot-Marie-Tooth Disease, Type 1b is MPZ (Myelin Protein Zero). Affiliated tissues include b cells, prostate and breast, and related mouse phenotypes are muscle and behavior/neurological.

UniProtKB/Swiss-Prot:67 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 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 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 2h 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 2p
Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2v Surf1-Related Charcot-Marie-Tooth Disease Type 4
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2u 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
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2k Autosomal Dominant Charcot-Marie-Tooth Disease Type 2j
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d

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

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease12.1
2hereditary motor and sensory neuropathy v11.9
3charcot-marie-tooth neuropathy, x-linked dominant, 111.5
4charcot-marie-tooth type 1 aplasia cutis congenita11.5
5x-linked charcot-marie-tooth disease type 111.5
6lung cancer10.5
7breast cancer10.5
8hepatitis c virus10.5
9hepatitis10.5
10porencephaly10.5
11hepatitis c10.5
12bronchiolitis10.5
13cerebritis10.5
14pancreatitis10.5
15hyperekplexia10.5
16endotheliitis10.5
17hiv-110.5
18chorioangioma10.5
19hydrops fetalis10.5
20cowchock syndrome10.4
21motor sensory neuropathy type 1 aplasia cutis congenita10.4
22charcot-marie-tooth disease, type 2i10.4CHM, MPZ, NR0B1
23charcot-marie-tooth disease, dominant intermediate d10.4CHM, MPZ, NR0B1
24charcot-marie-tooth disease, type 2j10.4CHM, MPZ, NR0B1
25charcot-marie-tooth neuropathy type 2n10.3HSPB8, MPZ
26transposition of the great arteries, dextro-looped 110.3HSPB8, MPZ
27charcot-marie-tooth disease type 2n10.3HSPB8, MPZ
28neuropathy, recurrent, with pressure palsies10.3MPZ, NR0B1
29charcot-marie-tooth disease type 2c10.3KIF1B, MFN2
30prolymphocytic leukemia10.3KIF1B, MPZ
31charcot-marie-tooth neuropathy type 2e/1f10.3KIF1B, MFN2
32anal colloid adenocarcinoma10.2KIF1B, MPZ
33pituitary adenoma, growth hormone-secreting10.2AARS, IGHMBP2, NEFL
34neuropathy, inflammatory demyelinating10.0GJB1, MPZ, NR0B1
35charcot-marie-tooth neuropathy type 2a9.9GJB1, MPZ, NEFL
36ovarian serous cystadenofibroma9.9GDAP1, LMNA, MFN2, TRPV4
37dyserythropoietic anemia and thrombocytopenia9.9HSPB1, HSPB8
38charcot-marie-tooth neuropathy type 4j9.8GDAP1, MPZ, SBF1, SH3TC2
39testicular fibroma9.8DYNC1H1, HSPB8, IGHMBP2, TRPV4
40autonomic peripheral neuropathy9.8GJB1, MFN2, MPZ
41central nervous system origin vertigo9.8GJB1, KIF1B, MFN2, MPZ
42spinal stenosis9.7DYNC1H1, IGHMBP2, TRPV4
43htlv-1 associated myelopathy9.6DNAJB2, GJB1, LMNA, MFN2, MPZ
44gastric antral vascular ectasia9.6GDAP1, GJB1, MFN2, MPZ
45cheek mucosa cancer9.5GDAP1, GJB1, MFN2, MPZ
46dejerine-sottas disease9.4CHM, GDAP1, GJB1, KIF1B, MPZ, NR0B1
47charcot-marie-tooth disease, type 1f8.7AARS, DNAJB2, GDAP1, HSPB8, IGHMBP2, KIF1B
48neuropathy, congenital hypomyelinating8.7CHM, DNAJB2, GDAP1, HSPB1, HSPB8, KIF1B
49benign essential hypertension7.7GDAP1, GJB1, HSPB1, HSPB8, KIF1B, LMNA
50childhood type dermatomyositis6.6AARS, DNAJB2, DYNC1H1, GDAP1, GJB1, HSPB1

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 tonic pupil HP:0012074
2 peripheral demyelination HP:0011096
3 foot dorsiflexor weakness HP:0009027
4 myelin outfoldings HP:0004336
5 distal amyotrophy HP:0003693
6 cold-induced muscle cramps HP:0003449
7 decreased motor nerve conduction velocity HP:0003431
8 onion bulb formation HP:0003383
9 hypertrophic nerve changes HP:0003382
10 decreased number of peripheral myelinated nerve fibers HP:0003380
11 steppage gait HP:0003376
12 distal sensory impairment HP:0002936
13 kyphoscoliosis HP:0002751
14 distal muscle weakness HP:0002460
15 hammertoe HP:0001765
16 pes cavus HP:0001761
17 areflexia HP:0001284
18 hyporeflexia HP:0001265
19 ulnar claw HP:0001178

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

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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

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 Neuropathy Type 1b22 MPZ

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

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

33
B cells, Prostate, Breast

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.9AARS, DYNC1H1, HSPB8, IGHMBP2, KIF1B, LMNA
2MP:00053866.1AARS, DYNC1H1, GDAP1, GJB1, IGHMBP2, KIF1B
3MP:00036315.7AARS, CHM, DYNC1H1, GDAP1, GJB1, IGHMBP2
4MP:00053765.0CHM, GDAP1, GJB1, HSPB1, HSPB8, IGHMBP2

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

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

(show all 19)
idTitleAuthorsYear
1
Mean Platelet Volume and Splenomegaly as Useful Markers of Subclinical Activity in Egyptian Children with Familial Mediterranean Fever: A Cross-Sectional Study. (26464867)
2015
2
Protease Activated Receptors 1 and 2 Correlate Differently with Breast Cancer Aggressiveness Depending on Tumor ER Status. (26244666)
2015
3
Prevalence of ixodid tick infestation of sheep in the Arasbaran region of Iran. (24082534)
2012
4
Frequency of Toxoplasmosis in Water Buffalo (Bubalus bubalis) in Trinidad. (22195295)
2011
5
Clinical utility gene card for: Meckel syndrome. (21368913)
2011
6
STAT6 transcription factor is a facilitator of the nuclear receptor PPARI^-regulated gene expression in macrophages and dendritic cells. (21093321)
2010
7
Association between sequence variants at 17q12 and 17q24.3 and prostate cancer risk in European and African Americans. (18361410)
2008
8
Patent foramen ovale or pulmonary arteriovenous malformation: an appeal for diagnostic accuracy. (17625077)
2007
9
The endocannabinoid system: a new paradigm in the metabolic syndrome treatment]. (16767305)
2006
10
Quantitative evaluation of partial deletions of the DAZ gene cluster. (16596261)
2006
11
Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature. (16053913)
2005
12
Pharmacogenomics of statin responsiveness. (16291017)
2005
13
Transcription factor accessibility and histone acetylation of the progesterone receptor gene differs between parental MCF-7 cells and a subline that has lost progesterone receptor expression. (15019994)
2004
14
Soluble adhesion molecules: marker of pre-eclampsia and intrauterine growth restriction. (12422906)
2002
15
The role of nitric oxide in ocular surface diseases. (11811584)
2001
16
Ca2+ oscillation and c-fos gene expression induced via muscarinic acetylcholine receptor in human T- and B-cell lines. (10935528)
2000
17
Effects of intravenously administered C-type natriuretic peptide in humans: comparison with atrial natriuretic peptide. (9582102)
1998
18
Peroxisome proliferator-activated receptors and lipid metabolism. (8391237)
1993
19
Abnormal peroxidase-positive granules in "specific granule" deficiency. (2917198)
1989

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:

67 (show all 53)
id Symbol AA change Variation ID SNP ID
1MPZp.Ile30MetVAR_004500
2MPZp.Val32PheVAR_004501
3MPZp.Thr34IleVAR_004502
4MPZp.Ser44PheVAR_004503
5MPZp.Ser54CysVAR_004504
6MPZp.Ser54ProVAR_004505
7MPZp.Val58PheVAR_004506
8MPZp.Ser63PheVAR_004509
9MPZp.Tyr68CysVAR_004511
10MPZp.Ser78LeuVAR_004512
11MPZp.His81ArgVAR_004513
12MPZp.Tyr82CysVAR_004514
13MPZp.Asp90GluVAR_004515
14MPZp.Gly93GluVAR_004516
15MPZp.Lys96GluVAR_004517
16MPZp.Arg98CysVAR_004518
17MPZp.Arg98HisVAR_004519
18MPZp.Arg98ProVAR_004520
19MPZp.Arg98SerVAR_004521
20MPZp.Ile99ThrVAR_004522
21MPZp.Trp101CysVAR_004523
22MPZp.Ile112ThrVAR_004524
23MPZp.Asn122SerVAR_004528
24MPZp.Thr124MetVAR_004529
25MPZp.Asp128GluVAR_004532
26MPZp.Lys130ArgVAR_004534
27MPZp.Pro132LeuVAR_004535
28MPZp.Asp134GluVAR_004536
29MPZp.Asp134AsnVAR_004537
30MPZp.Ile135LeuVAR_004538
31MPZp.Ile135ThrVAR_004539
32MPZp.Gly137SerVAR_004540
33MPZp.Thr143MetVAR_004541
34MPZp.Gly163ArgVAR_004542
35MPZp.Gly167AlaVAR_004543
36MPZp.Ile62PheVAR_015972
37MPZp.Gly103GluVAR_015976
38MPZp.Gly123CysVAR_015977
39MPZp.Ser51PheVAR_029971
40MPZp.Thr65IleVAR_029974
41MPZp.Asp134GlyVAR_029979
42MPZp.Lys138AsnVAR_029980
43MPZp.Thr139AsnVAR_029981
44MPZp.Ser140ThrVAR_029982
45MPZp.Tyr145SerVAR_029983
46MPZp.Val146PheVAR_029984
47MPZp.Leu170ArgVAR_029985
48MPZp.Thr65AlaVAR_031886
49MPZp.Ser78TrpVAR_031887
50MPZp.Asp109AsnVAR_031889
51MPZp.His39ProVAR_054393
52MPZp.Asp224TyrVAR_054397
53MPZp.Arg227SerVAR_054398

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

5 (show all 86)
id Gene Variation Type Significance SNP ID Assembly Location
1MED25NM_030973.3(MED25): c.1004C> T (p.Ala335Val)single nucleotide variantPathogenicrs145770066GRCh37Chr 19, 50334047: 50334047
2NEFLNM_006158.4(NEFL): c.22_23delCCinsAG (p.Pro8Arg)indelPathogenicrs60261494GRCh37Chr 8, 24814007: 24814008
3MPZNM_000530.7(MPZ): c.286A> G (p.Lys96Glu)single nucleotide variantPathogenicrs121913583GRCh37Chr 1, 161276660: 161276660
4MPZNM_000530.7(MPZ): c.270C> A (p.Asp90Glu)single nucleotide variantPathogenicrs121913584GRCh37Chr 1, 161276676: 161276676
5MPZMPZ, 3-BP DEL, SER34DELdeletionPathogenic
6MPZNM_000530.7(MPZ): c.499G> C (p.Gly167Arg)single nucleotide variantPathogenicrs121913586GRCh37Chr 1, 161276204: 161276204
7MPZMPZ, THR216GLU-ARGundetermined variantPathogenic
8MPZNM_000530.7(MPZ): c.404T> C (p.Ile135Thr)single nucleotide variantPathogenicrs121913587GRCh37Chr 1, 161276542: 161276542
9MPZNM_000530.7(MPZ): c.409G> A (p.Gly137Ser)single nucleotide variantPathogenicrs121913588GRCh37Chr 1, 161276537: 161276537
10MPZNM_000530.7(MPZ): c.293G> C (p.Arg98Pro)single nucleotide variantPathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
11MPZNM_000530.7(MPZ): c.292C> T (p.Arg98Cys)single nucleotide variantPathogenicrs121913590GRCh37Chr 1, 161276654: 161276654
12MPZNM_000530.7(MPZ): c.293G> A (p.Arg98His)single nucleotide variantPathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
13MPZNM_000530.7(MPZ): c.188C> T (p.Ser63Phe)single nucleotide variantPathogenicrs121913585GRCh37Chr 1, 161277094: 161277094
14MPZNM_000530.7(MPZ): c.242A> G (p.His81Arg)single nucleotide variantPathogenicrs121913594GRCh37Chr 1, 161276704: 161276704
15MPZNM_000530.7(MPZ): c.371C> T (p.Thr124Met)single nucleotide variantPathogenicrs121913595GRCh37Chr 1, 161276575: 161276575
16MPZNM_000530.7(MPZ): c.224A> T (p.Asp75Val)single nucleotide variantPathogenicrs121913597GRCh37Chr 1, 161277058: 161277058
17MPZNM_000530.7(MPZ): c.131C> T (p.Ser44Phe)single nucleotide variantPathogenicrs121913598GRCh37Chr 1, 161277151: 161277151
18MPZNM_000530.7(MPZ): c.393C> A (p.Asn131Lys)single nucleotide variantPathogenicrs121913599GRCh37Chr 1, 161276553: 161276553
19MPZNM_000530.7(MPZ): c.308G> A (p.Gly103Glu)single nucleotide variantPathogenicrs121913600GRCh37Chr 1, 161276638: 161276638
20MPZNM_000530.7(MPZ): c.233C> T (p.Ser78Leu)single nucleotide variantPathogenicrs121913601GRCh37Chr 1, 161277049: 161277049
21MPZNM_000530.7(MPZ): c.434A> C (p.Tyr145Ser)single nucleotide variantPathogenicrs121913603GRCh37Chr 1, 161276512: 161276512
22MPZMPZ, IVS4DS, T-G, +2single nucleotide variantPathogenic
23MPZNM_000530.7(MPZ): c.367G> A (p.Gly123Ser)single nucleotide variantPathogenicrs121913608GRCh37Chr 1, 161276579: 161276579
24MPZMPZ, VAL102VALsingle nucleotide variantPathogenic
25MPZMPZ, ASP195TYRsingle nucleotide variantPathogenic
26LMNANM_170707.3(LMNA): c.1579C> T (p.Arg527Cys)single nucleotide variantPathogenicrs57318642GRCh37Chr 1, 156106994: 156106994
27LMNANM_170707.3(LMNA): c.398G> T (p.Arg133Leu)single nucleotide variantPathogenicrs60864230GRCh37Chr 1, 156100449: 156100449
28LMNANM_170707.3(LMNA): c.892C> T (p.Arg298Cys)single nucleotide variantPathogenicrs59885338GRCh37Chr 1, 156105059: 156105059
29LMNANM_170707.3(LMNA): c.1411C> T (p.Arg471Cys)single nucleotide variantPathogenicrs28928902GRCh37Chr 1, 156106742: 156106742
30LMNANM_170707.3(LMNA): c.1930C> T (p.Arg644Cys)single nucleotide variantLikely pathogenic, Pathogenicrs142000963GRCh37Chr 1, 156108510: 156108510
31MARSNM_004990.3(MARS): c.1852C> T (p.Arg618Cys)single nucleotide variantPathogenicrs587777718GRCh37Chr 12, 57906632: 57906632
32GJB1NM_000166.5(GJB1): c.688C> T (p.Arg230Cys)single nucleotide variantPathogenicrs587781246GRCh38Chr X, 71224395: 71224395
33HSPB1NM_001540.3(HSPB1): c.380G> T (p.Arg127Leu)single nucleotide variantPathogenicrs587781250GRCh38Chr 7, 76303817: 76303817
34SBF1NM_002972.3(SBF1): c.1327G> A (p.Asp443Asn)single nucleotide variantLikely pathogenic, Pathogenicrs690016543GRCh37Chr 22, 50903435: 50903435
35IGHMBP2NM_002180.2(IGHMBP2): c.138T> A (p.Cys46Ter)single nucleotide variantPathogenicrs372000714GRCh38Chr 11, 68906120: 68906120
36IGHMBP2NM_002180.2(IGHMBP2): c.2911_2912delAG (p.Arg971Glufs)deletionPathogenicrs724159994GRCh38Chr 11, 68939660: 68939661
37IGHMBP2NM_002180.2(IGHMBP2): c.604T> G (p.Phe202Val)single nucleotide variantPathogenicrs724159958GRCh38Chr 11, 68911496: 68911496
38DNAJB2NM_001039550.1(DNAJB2): c.229+1G> Asingle nucleotide variantPathogenicrs730882139GRCh37Chr 2, 220146494: 220146494
39DNAJB2NM_001039550.1(DNAJB2): c.14A> G (p.Tyr5Cys)single nucleotide variantPathogenicrs730882140GRCh37Chr 2, 220144569: 220144569
40MARSNM_004990.3(MARS): c.2398C> A (p.Pro800Thr)single nucleotide variantPathogenicrs781249411GRCh37Chr 12, 57909709: 57909709
41AARSNM_001605.2(AARS): c.2333A> C (p.Glu778Ala)single nucleotide variantPathogenicrs797044801GRCh38Chr 16, 70254688: 70254688
42LRSAM1NM_138361.5(LRSAM1): c.1913-1G> Asingle nucleotide variantPathogenicrs756880678GRCh37Chr 9, 130263288: 130263288
43IGHMBP2NM_002180.2(IGHMBP2): c.1591C> A (p.Pro531Thr)single nucleotide variantPathogenicrs756985703GRCh38Chr 11, 68934517: 68934517
44IGHMBP2NM_002180.2(IGHMBP2): c.449+1G> Tsingle nucleotide variantPathogenicrs797044802GRCh38Chr 11, 68908338: 68908338
45IGHMBP2NM_002180.2(IGHMBP2): c.2784+1G> Tsingle nucleotide variantPathogenicrs797044803GRCh38Chr 11, 68938355: 68938355
46MPZNM_000530.7(MPZ): c.181G> A (p.Asp61Asn)single nucleotide variantPathogenicrs797044845GRCh37Chr 1, 161277101: 161277101
47MPZNM_000530.7(MPZ): c.241C> T (p.His81Tyr)single nucleotide variantPathogenicrs281865123GRCh37Chr 1, 161276705: 161276705
48MPZNM_000530.7(MPZ): c.487G> A (p.Gly163Arg)single nucleotide variantPathogenicrs281865128GRCh38Chr 1, 161306426: 161306426
49MPZNM_000530.7(MPZ): c.499G> A (p.Gly167Arg)single nucleotide variantPathogenicrs121913586GRCh37Chr 1, 161276204: 161276204
50MPZNP_000521.1: p.Asn116Serprotein onlyPathogenic
51MPZNM_000530.7(MPZ): c.451C> A (p.Pro151Thr)single nucleotide variantLikely pathogenicrs754068936GRCh37Chr 1, 161276252: 161276252
52MPZNM_000530.7(MPZ): c.116A> C (p.His39Pro)single nucleotide variantPathogenicrs371856018GRCh38Chr 1, 161307376: 161307376
53MPZNM_000530.7(MPZ): c.410G> A (p.Gly137Asp)single nucleotide variantPathogenicrs863225025GRCh37Chr 1, 161276536: 161276536
54MPZNM_000530.7(MPZ): c.646-10_650deldeletionPathogenicrs863225026GRCh37Chr 1, 161275763: 161275777
55MPZNM_000530.7(MPZ): c.90C> G (p.Ile30Met)single nucleotide variantPathogenicrs770546306GRCh37Chr 1, 161277192: 161277192
56MFN2NM_014874.3(MFN2): c.310C> T (p.Arg104Trp)single nucleotide variantPathogenicrs119103268GRCh37Chr 1, 12052746: 12052746
57SH3TC2NM_024577.3(SH3TC2): c.2860C> T (p.Arg954Ter)single nucleotide variantPathogenicrs80338933GRCh37Chr 5, 148406435: 148406435
58HSPB8NM_014365.2(HSPB8): c.423G> C (p.Lys141Asn)single nucleotide variantPathogenicrs104894345GRCh37Chr 12, 119624885: 119624885
59HSPB8NM_014365.2(HSPB8): c.421A> G (p.Lys141Glu)single nucleotide variantPathogenicrs104894351GRCh37Chr 12, 119624883: 119624883
60HSPB8NM_014365.2(HSPB8): c.423G> T (p.Lys141Asn)single nucleotide variantPathogenicrs104894345GRCh37Chr 12, 119624885: 119624885
61DYNC1H1NM_001376.4(DYNC1H1): c.917A> G (p.His306Arg)single nucleotide variantPathogenicrs387906738GRCh37Chr 14, 102446843: 102446843
62LRSAM1NM_138361.5(LRSAM1): c.2121_2122dupGC (p.Leu708Argfs)duplicationPathogenicrs786200930GRCh38Chr 9, 127502848: 127502849
63MPZNM_000530.7(MPZ): c.89T> C (p.Ile30Thr)single nucleotide variantPathogenicrs281865121GRCh37Chr 1, 161277193: 161277193
64MPZNM_000530.7(MPZ): c.175T> A (p.Ser59Thr)single nucleotide variantPathogenicrs281865122GRCh37Chr 1, 161277107: 161277107
65MPZNM_000530.7(MPZ): c.241C> T (p.His81Tyr)single nucleotide variantPathogenicrs281865123GRCh37Chr 1, 161276705: 161276705
66MPZNM_000530.7(MPZ): c.244T> C (p.Tyr82His)single nucleotide variantPathogenicrs281865124GRCh37Chr 1, 161276702: 161276702
67MPZNM_000530.7(MPZ): c.266T> C (p.Ile89Thr)single nucleotide variantPathogenicrs267607244GRCh37Chr 1, 161276680: 161276680
68MPZNM_000530.7(MPZ): c.306delA (p.Asp104Thrfs)deletionPathogenicrs281865125GRCh37Chr 1, 161276640: 161276640
69MPZNM_000530.7(MPZ): c.337G> T (p.Val113Phe)single nucleotide variantPathogenicrs281865126GRCh37Chr 1, 161276609: 161276609
70MPZNM_000530.7(MPZ): c.389A> G (p.Lys130Arg)single nucleotide variantPathogenicrs281865127GRCh37Chr 1, 161276557: 161276557
71MPZNM_000530.7(MPZ): c.487G> C (p.Gly163Arg)single nucleotide variantPathogenicrs281865128GRCh37Chr 1, 161276216: 161276216
72MPZNM_000530.7(MPZ): c.588dupT (p.Met197Tyrfs)duplicationPathogenicrs281865129GRCh37Chr 1, 161275955: 161275955
73MPZNM_000530.7(MPZ): c.670G> T (p.Asp224Tyr)single nucleotide variantPathogenicrs267607247GRCh37Chr 1, 161275743: 161275743
74MPZNM_000530.7(MPZ): c.164G> T (p.Ser55Ile)single nucleotide variantPathogenicrs281865133GRCh37Chr 1, 161277118: 161277118
75MPZNM_000530.7(MPZ): c.347A> G (p.Asn116Ser)single nucleotide variantPathogenicrs281865130GRCh37Chr 1, 161276599: 161276599
76MPZNM_000530.7(MPZ): c.645+1G> Tsingle nucleotide variantPathogenicrs281865131GRCh37Chr 1, 161275897: 161275897
77MPZNM_000530.7(MPZ): c.649C> T (p.Pro217Ser)single nucleotide variantPathogenicrs281865132GRCh37Chr 1, 161275764: 161275764
78GDAP1NM_018972.2(GDAP1): c.358C> T (p.Arg120Trp)single nucleotide variantPathogenicrs104894078GRCh37Chr 8, 75272419: 75272419
79KIF1BNM_015074.3(KIF1B): c.293A> T (p.Gln98Leu)single nucleotide variantPathogenicrs121908160GRCh37Chr 1, 10318660: 10318660
80TRPV4NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp)single nucleotide variantPathogenicrs267607143GRCh37Chr 12, 110236628: 110236628
81TRPV4NM_021625.4(TRPV4): c.806G> A (p.Arg269His)single nucleotide variantPathogenicrs267607144GRCh37Chr 12, 110238470: 110238470
82TRPV4NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys)single nucleotide variantPathogenicrs267607145GRCh37Chr 12, 110236625: 110236625
83TRPV4NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys)single nucleotide variantPathogenicrs267607146GRCh37Chr 12, 110238471: 110238471
84LMNANM_170707.3(LMNA): c.1908C> T (p.Ser636=)single nucleotide variantPathogenicrs80356814GRCh37Chr 1, 156108488: 156108488
85AARSNM_001605.2(AARS): c.986G> A (p.Arg329His)single nucleotide variantPathogenicrs267606621GRCh37Chr 16, 70302259: 70302259
86IGHMBP2NM_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
1tRNA aminoacylation for protein translationGO:00064189.9AARS, MARS

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet