MCID: CHR527
MIFTS: 41

Charcot-Marie-Tooth Disease, Type 1b malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Fetal diseases, Ear diseases, Metabolic diseases categories

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

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Charcot-Marie-Tooth Disease, Type 1b, Aliases & Descriptions:

Name: Charcot-Marie-Tooth Disease, Type 1b 45 10
Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 45 41
Charcot-Marie-Tooth Disease Type 1b 41 47
Charcot Marie Tooth Disease Type 1b 41 22
Cmt1b 41 47
Hereditary Motor and Sensory Neuropathy 1b 41
 
Charcot-Marie-Tooth Neuropathy Type 1b 20
Charcot-Marie-Tooth Disease, Type Ib 60
Charcot-Marie-Tooth Disease 60
Peroneal Muscular Atrophy 41
Hmsn 1b 41
Cmt 1b 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
charcot-marie-tooth disease type 1b:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: young Adult


External Ids:

OMIM45 118200
Orphanet47 101082
ICD10 via Orphanet26 G60.0
UMLS via Orphanet61 C0270912

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

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OMIM:45 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, demyelinating, type 1b, is related to charcot-marie-tooth disease and tooth disease, and has symptoms including autosomal dominant inheritance, ulnar claw and hyporeflexia. An important gene associated with Charcot-Marie-Tooth Disease, Type 1b is CHM (choroideremia (Rab escort protein 1)). The compounds lipid and cysteine have been mentioned in the context of this disorder.

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, Recessive Intermediate C Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Type 4c Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4d
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, Dominant Intermediate B Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Type 2a1 Charcot-Marie-Tooth Disease, Type 2a2
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 2d Charcot-Marie-Tooth Disease, Type 2e
Charcot-Marie-Tooth Disease, Type 1f Charcot-Marie-Tooth Disease, Recessive Intermediate, a
Charcot-Marie-Tooth Disease, Type 1d 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, Type 4f
Charcot-Marie-Tooth Disease, Type 2b2 Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease Intermediate Type Charcot-Marie-Tooth Disease Dominant Intermediate 1
Charcot-Marie-Tooth Disease Dominant Intermediate 2 Charcot-Marie-Tooth Disease Dominant Intermediate 3
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
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type a
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q 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 2o
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2p Surf1-Related Charcot-Marie-Tooth Disease Type 4
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Mars Mutation 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 Dominant Charcot-Marie-Tooth Disease Type 2a2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c

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

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease32.0MPZ
2tooth disease11.1
3muscular atrophy10.6
4neurofibromatosis, type 110.5
5neurofibromatosis10.5
6neuropathy10.5
7cowchock syndrome10.2
8hereditary ataxia10.2
9plexiform neurofibroma10.2
10poland syndrome10.2
11hereditary sensory neuropathy10.2
12neurofibroma10.2
13charcot-marie-tooth disease x-linked 110.2
14charcot-marie-tooth type 1 aplasia cutis congenita10.2
15congenital contractures10.2
16motor sensory neuropathy type 1 aplasia cutis congenita10.2
17ataxia10.2
18hereditary motor and sensory neuropathy v10.0
19charcot-marie-tooth disease, type 2a110.0
20charcot-marie-tooth disease, type 2a210.0
21charcot-marie-tooth disease, type 2b110.0
22roussy-levy syndrome10.0
23charcot-marie-tooth disease, type 1d10.0
24charcot-marie-tooth disease, type 1c10.0
25charcot-marie-tooth disease, type 1a10.0
26charcot-marie-tooth disease, type 2b210.0
27charcot-marie-tooth neuropathy, x-linked dominant, 110.0

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 26)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 ulnar claw HP:0001178
3 hyporeflexia HP:0001265
4 areflexia HP:0001284
5 heterogeneous HP:0001425
6 pes cavus HP:0001761
7 hammertoe HP:0001765
8 distal muscle weakness HP:0002460
9 kyphoscoliosis HP:0002751
10 distal sensory impairment HP:0002936
11 steppage gait HP:0003376
12 decreased number of peripheral myelinated nerve fibers HP:0003380
13 hypertrophic nerve changes HP:0003382
14 onion bulb formation HP:0003383
15 decreased motor nerve conduction velocity HP:0003431
16 cold-induced muscle cramps HP:0003449
17 insidious onset HP:0003587
18 juvenile onset HP:0003621
19 slow progression HP:0003677
20 limb muscle weakness HP:0003690
21 distal amyotrophy HP:0003693
22 variable expressivity HP:0003828
23 myelin outfoldings HP:0004336
24 foot dorsiflexor weakness HP:0009027
25 peripheral demyelination HP:0011096
26 tonic pupil HP:0012074

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

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Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Disease, Type 1b

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 1b20 MPZ
2 Charcot-Marie-Tooth Disease, Type Ib22

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

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

(show all 18)
idTitleAuthorsYear
1
Late-onset Charcot-Marie-Tooth disease type 1B due to a novel mutation in the extracellular disulfide bridge of MPZ gene. (22633464)
2013
2
Resetting translational homeostasis restores myelination in Charcot-Marie-Tooth disease type 1B mice. (23547100)
2013
3
A novel MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies. (21940171)
2012
4
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. (22689911)
2012
5
A patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B. (19918771)
2010
6
Diagnostic nerve ultrasound in Charcot-Marie-Tooth disease type 1B. (19533637)
2009
7
Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families. (18422810)
2008
8
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B. (16488608)
2006
9
Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease type 1B. (16521307)
2005
10
Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation. (15170620)
2004
11
Myelinated fibers in Charcot-Marie-Tooth disease type 1B with Arg98His mutation of Po protein. (10581375)
1999
12
Novel mutation of the myelin Po gene in a pedigree with Charcot- Marie-Tooth disease type 1B. (9217235)
1997
13
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
14
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
15
Mutations in the myelin protein zero gene associated with Charcot- Marie-Tooth disease type 1B. (7550231)
1995
16
Linkage and mutation analysis in an extended family with Charcot- Marie-Tooth disease type 1B. (7530774)
1994
17
A familial Charcot-Marie-Tooth disease type 1B (CMTD1B) manifesting a new mutation of myelin P0 gene]. (7537189)
1994
18
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:

62 (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:

6 (show all 33)
id Gene Variation Type Significance SNP ID Assembly Location
1MPZNM_000530.6(MPZ): c.286A> G (p.Lys96Glu)single nucleotide variantPathogenicrs121913583GRCh37Chr 1, 161276660: 161276660
2MPZNM_000530.6(MPZ): c.270C> A (p.Asp90Glu)single nucleotide variantPathogenicrs121913584GRCh37Chr 1, 161276676: 161276676
3MPZMPZ, 3-BP DEL, SER34DELdeletionPathogenic
4MPZMPZ, THR216GLU-ARGundetermined variantPathogenic
5MPZNM_000530.6(MPZ): c.404T> C (p.Ile135Thr)single nucleotide variantPathogenicrs121913587GRCh37Chr 1, 161276542: 161276542
6MPZNM_000530.6(MPZ): c.409G> A (p.Gly137Ser)single nucleotide variantPathogenicrs121913588GRCh37Chr 1, 161276537: 161276537
7MPZNM_000530.6(MPZ): c.293G> C (p.Arg98Pro)single nucleotide variantPathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
8MPZNM_000530.6(MPZ): c.292C> T (p.Arg98Cys)single nucleotide variantPathogenicrs121913590GRCh37Chr 1, 161276654: 161276654
9MPZNM_000530.6(MPZ): c.293G> A (p.Arg98His)single nucleotide variantPathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
10MPZNM_000530.6(MPZ): c.188C> T (p.Ser63Phe)single nucleotide variantPathogenicrs121913585GRCh37Chr 1, 161277094: 161277094
11MPZNM_000530.6(MPZ): c.242A> G (p.His81Arg)single nucleotide variantPathogenicrs121913594GRCh37Chr 1, 161276704: 161276704
12MPZNM_000530.6(MPZ): c.371C> T (p.Thr124Met)single nucleotide variantPathogenicrs121913595GRCh37Chr 1, 161276575: 161276575
13MPZNM_000530.6(MPZ): c.308G> A (p.Gly103Glu)single nucleotide variantPathogenicrs121913600GRCh37Chr 1, 161276638: 161276638
14MPZNM_000530.6(MPZ): c.434A> C (p.Tyr145Ser)single nucleotide variantPathogenicrs121913603GRCh37Chr 1, 161276512: 161276512
15MPZMPZ, IVS4DS, T-G, +2single nucleotide variantPathogenic
16MPZNM_000530.6(MPZ): c.367G> A (p.Gly123Ser)single nucleotide variantPathogenicrs121913608GRCh37Chr 1, 161276579: 161276579
17MPZMPZ, VAL102VALsingle nucleotide variantPathogenic
18MPZMPZ, ASP195TYRsingle nucleotide variantPathogenic
19MPZNM_000530.6(MPZ): c.89T> C (p.Ile30Thr)single nucleotide variantPathogenicrs281865121GRCh37Chr 1, 161277193: 161277193
20MPZNM_000530.6(MPZ): c.175T> A (p.Ser59Thr)single nucleotide variantPathogenicrs281865122GRCh37Chr 1, 161277107: 161277107
21MPZNM_000530.6(MPZ): c.241C> T (p.His81Tyr)single nucleotide variantPathogenicrs281865123GRCh37Chr 1, 161276705: 161276705
22MPZNM_000530.6(MPZ): c.244T> C (p.Tyr82His)single nucleotide variantPathogenicrs281865124GRCh37Chr 1, 161276702: 161276702
23MPZNM_000530.6(MPZ): c.266T> C (p.Ile89Thr)single nucleotide variantPathogenicrs267607244GRCh37Chr 1, 161276680: 161276680
24MPZNM_000530.6(MPZ): c.306delA (p.Asp104Thrfs)deletionPathogenicrs281865125GRCh37Chr 1, 161276640: 161276640
25MPZNM_000530.6(MPZ): c.337G> T (p.Val113Phe)single nucleotide variantPathogenicrs281865126GRCh37Chr 1, 161276609: 161276609
26MPZNM_000530.6(MPZ): c.389A> G (p.Lys130Arg)single nucleotide variantPathogenicrs281865127GRCh37Chr 1, 161276557: 161276557
27MPZNM_000530.6(MPZ): c.487G> C (p.Gly163Arg)single nucleotide variantPathogenicrs281865128GRCh37Chr 1, 161276216: 161276216
28MPZNM_000530.6(MPZ): c.588dupT (p.Met197Tyrfs)duplicationPathogenicrs281865129GRCh37Chr 1, 161275954: 161275955
29MPZNM_000530.6(MPZ): c.670G> T (p.Asp224Tyr)single nucleotide variantPathogenicrs267607247GRCh37Chr 1, 161275743: 161275743
30MPZNM_000530.6(MPZ): c.164G> T (p.Ser55Ile)single nucleotide variantPathogenicrs281865133GRCh37Chr 1, 161277118: 161277118
31MPZNM_000530.6(MPZ): c.347A> G (p.Asn116Ser)single nucleotide variantPathogenicrs281865130GRCh37Chr 1, 161276599: 161276599
32MPZNM_000530.6(MPZ): c.645+1G> Tsingle nucleotide variantPathogenicrs281865131GRCh37Chr 1, 161275897: 161275897
33MPZNM_000530.6(MPZ): c.649C> T (p.Pro217Ser)single nucleotide variantPathogenicrs281865132GRCh37Chr 1, 161275764: 161275764

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

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Sources:
43Novoseek
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Compounds related to Charcot-Marie-Tooth Disease, Type 1b according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1lipid439.1CHM, MPZ
2cysteine438.8CHM, MPZ

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

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

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet