MCID: CHR527
MIFTS: 52

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:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all 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 Type 1b 45 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 1b 67
Charcot-Marie-Tooth Disease 65
Hmsn Ib 67
Hmsn 1b 45
Hmsn1b 67


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM49 118200
Orphanet51 101082
ICD10 via Orphanet28 G60.0
UMLS via Orphanet66 C0270912
MedGen34 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 neuropathy type 2a and charcot-marie-tooth neuropathy type 1, and has symptoms including autosomal dominant inheritance, ulnar claw and hyporeflexia. An important gene associated with Charcot-Marie-Tooth Disease, Type 1b is MPZ (Myelin Protein Zero). 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 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 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 2p 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
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 109)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth neuropathy type 2a30.0GJB1, MPZ, NEFL
2charcot-marie-tooth neuropathy type 126.9AARS, DNAJB2, DYNC1H1, GDAP1, GJB1, HSPB1
3charcot-marie-tooth disease11.1
4tooth disease11.1
5charcot-marie-tooth neuropathy10.7
6muscular atrophy10.6
7neurofibromatosis, type 110.5
8neurofibromatosis10.5
9neuropathy10.5
10hereditary motor and sensory neuropathy v10.4
11charcot-marie-tooth disease, type 2i10.3CHM, MPZ, NR0B1
12charcot-marie-tooth disease, dominant intermediate d10.3CHM, MPZ, NR0B1
13charcot-marie-tooth disease, type 2j10.2CHM, MPZ, NR0B1
14charcot-marie-tooth neuropathy, x-linked dominant, 110.2
15hereditary ataxia10.2
16poland syndrome10.2
17plexiform neurofibroma10.2
18neurofibroma10.2
19charcot-marie-tooth type 1 aplasia cutis congenita10.2
20congenital contractures10.2
21x-linked charcot-marie-tooth disease type 110.2
22ataxia10.2
23neuropathy, recurrent, with pressure palsies10.2MPZ, NR0B1
24pleomorphic adenoma10.2KIF1B, MPZ
25charcot-marie-tooth disease type 2c10.2KIF1B, MFN2
26charcot-marie-tooth neuropathy type 2e/1f10.2KIF1B, MFN2
27brain angioma10.1KIF1B, MPZ
28roussy-levy syndrome10.1
29mouth disease10.0DNAJB2, HSPB1, HSPB8
30congenital generalized lipodystrophy10.0DNAJB2, HSPB1, HSPB8
31neuropathy, inflammatory demyelinating10.0GJB1, KIF1B, MPZ, NR0B1
32vaginal tubular adenoma10.0DYNC1H1, HSPB8, IGHMBP2, TRPV4
33dyserythropoietic anemia and thrombocytopenia10.0HSPB1, HSPB8
34charcot-marie-tooth disease, type 2a110.0
35charcot-marie-tooth disease, type 2a210.0
36hereditary motor and sensory neuropathy via10.0
37charcot-marie-tooth disease, type 2b110.0
38muscular dystrophy, congenital10.0
39muscular dystrophy, congenital, 1b10.0
40anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.0
41c syndrome10.0
42charcot-marie-tooth disease, type 4c10.0
43peeling skin syndrome 110.0
44roberts syndrome10.0
45charcot-marie-tooth disease, type 4a10.0
46charcot-marie-tooth disease, type 1d10.0
47neuropathy, hereditary sensory, type if10.0
48peeling skin syndrome 210.0
49exfoliation syndrome10.0
50charcot-marie-tooth disease, type 1c10.0

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 25)
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 distal amyotrophy HP:0003693
21 variable expressivity HP:0003828
22 myelin outfoldings HP:0004336
23 foot dorsiflexor weakness HP:0009027
24 peripheral demyelination HP:0011096
25 tonic pupil HP:0012074

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
2 Charcot-Marie-Tooth Disease, Type Ib24

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.7DYNC1H1, HSPB8, IGHMBP2, KIF1B, LMNA, MFN2
2MP:00053867.1AARS, DYNC1H1, GJB1, IGHMBP2, KIF1B, LMNA
3MP:00036316.9AARS, CHM, DYNC1H1, 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 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
MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis. (21503568)
2011
6
A patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B. (19918771)
2010
7
Diagnostic nerve ultrasound in Charcot-Marie-Tooth disease type 1B. (19533637)
2009
8
Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families. (18422810)
2008
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:

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_000530.6(MPZ): c.286A> G (p.Lys96Glu)single nucleotide variantPathogenicrs121913583GRCh37Chr 1, 161276660: 161276660
4MPZNM_000530.6(MPZ): c.270C> A (p.Asp90Glu)single nucleotide variantPathogenicrs121913584GRCh37Chr 1, 161276676: 161276676
5MPZMPZ, 3-BP DEL, SER34DELdeletionPathogenic
6MPZNM_000530.6(MPZ): c.499G> C (p.Gly167Arg)single nucleotide variantPathogenicrs121913586GRCh37Chr 1, 161276204: 161276204
7MPZMPZ, THR216GLU-ARGundetermined variantPathogenic
8MPZNM_000530.6(MPZ): c.404T> C (p.Ile135Thr)single nucleotide variantPathogenicrs121913587GRCh37Chr 1, 161276542: 161276542
9MPZNM_000530.6(MPZ): c.409G> A (p.Gly137Ser)single nucleotide variantPathogenicrs121913588GRCh37Chr 1, 161276537: 161276537
10MPZNM_000530.6(MPZ): c.293G> C (p.Arg98Pro)single nucleotide variantPathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
11MPZNM_000530.6(MPZ): c.292C> T (p.Arg98Cys)single nucleotide variantPathogenicrs121913590GRCh37Chr 1, 161276654: 161276654
12MPZNM_000530.6(MPZ): c.293G> A (p.Arg98His)single nucleotide variantPathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
13MPZNM_000530.6(MPZ): c.188C> T (p.Ser63Phe)single nucleotide variantPathogenicrs121913585GRCh37Chr 1, 161277094: 161277094
14MPZNM_000530.6(MPZ): c.242A> G (p.His81Arg)single nucleotide variantPathogenicrs121913594GRCh37Chr 1, 161276704: 161276704
15MPZNM_000530.6(MPZ): c.371C> T (p.Thr124Met)single nucleotide variantPathogenicrs121913595GRCh37Chr 1, 161276575: 161276575
16MPZNM_000530.6(MPZ): c.224A> T (p.Asp75Val)single nucleotide variantPathogenicrs121913597GRCh37Chr 1, 161277058: 161277058
17MPZNM_000530.6(MPZ): c.131C> T (p.Ser44Phe)single nucleotide variantPathogenicrs121913598GRCh37Chr 1, 161277151: 161277151
18MPZNM_000530.6(MPZ): c.393C> A (p.Asn131Lys)single nucleotide variantPathogenicrs121913599GRCh37Chr 1, 161276553: 161276553
19MPZNM_000530.6(MPZ): c.308G> A (p.Gly103Glu)single nucleotide variantPathogenicrs121913600GRCh37Chr 1, 161276638: 161276638
20MPZNM_000530.6(MPZ): c.233C> T (p.Ser78Leu)single nucleotide variantPathogenicrs121913601GRCh37Chr 1, 161277049: 161277049
21MPZNM_000530.6(MPZ): c.434A> C (p.Tyr145Ser)single nucleotide variantPathogenicrs121913603GRCh37Chr 1, 161276512: 161276512
22MPZMPZ, IVS4DS, T-G, +2single nucleotide variantPathogenic
23MPZNM_000530.6(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 variantLikely pathogenic, Pathogenicrs797044802GRCh38Chr 11, 68908338: 68908338
45IGHMBP2NM_002180.2(IGHMBP2): c.2784+1G> Tsingle nucleotide variantPathogenicrs797044803GRCh38Chr 11, 68938355: 68938355
46MPZNM_000530.6(MPZ): c.181G> A (p.Asp61Asn)single nucleotide variantPathogenicrs797044845GRCh37Chr 1, 161277101: 161277101
47MPZNM_000530.6(MPZ): c.241C> T (p.His81Tyr)single nucleotide variantPathogenicrs281865123GRCh37Chr 1, 161276705: 161276705
48MPZNM_000530.6(MPZ): c.487G> A (p.Gly163Arg)single nucleotide variantPathogenicrs281865128GRCh38Chr 1, 161306426: 161306426
49MPZNM_000530.6(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 variantPathogenicGRCh37Chr 1, 161276536: 161276536
54MPZNM_000530.7(MPZ): c.646-10_650deldeletionPathogenicGRCh37Chr 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_000530.6(MPZ): c.89T> C (p.Ile30Thr)single nucleotide variantPathogenicrs281865121GRCh37Chr 1, 161277193: 161277193
64MPZNM_000530.6(MPZ): c.175T> A (p.Ser59Thr)single nucleotide variantPathogenicrs281865122GRCh37Chr 1, 161277107: 161277107
65MPZNM_000530.6(MPZ): c.241C> T (p.His81Tyr)single nucleotide variantPathogenicrs281865123GRCh37Chr 1, 161276705: 161276705
66MPZNM_000530.6(MPZ): c.244T> C (p.Tyr82His)single nucleotide variantPathogenicrs281865124GRCh37Chr 1, 161276702: 161276702
67MPZNM_000530.6(MPZ): c.266T> C (p.Ile89Thr)single nucleotide variantPathogenicrs267607244GRCh37Chr 1, 161276680: 161276680
68MPZNM_000530.6(MPZ): c.306delA (p.Asp104Thrfs)deletionPathogenicrs281865125GRCh37Chr 1, 161276640: 161276640
69MPZNM_000530.6(MPZ): c.337G> T (p.Val113Phe)single nucleotide variantPathogenicrs281865126GRCh37Chr 1, 161276609: 161276609
70MPZNM_000530.6(MPZ): c.389A> G (p.Lys130Arg)single nucleotide variantPathogenicrs281865127GRCh37Chr 1, 161276557: 161276557
71MPZNM_000530.6(MPZ): c.487G> C (p.Gly163Arg)single nucleotide variantPathogenicrs281865128GRCh37Chr 1, 161276216: 161276216
72MPZNM_000530.6(MPZ): c.588dupT (p.Met197Tyrfs)duplicationPathogenicrs281865129GRCh37Chr 1, 161275955: 161275955
73MPZNM_000530.6(MPZ): c.670G> T (p.Asp224Tyr)single nucleotide variantPathogenicrs267607247GRCh37Chr 1, 161275743: 161275743
74MPZNM_000530.6(MPZ): c.164G> T (p.Ser55Ile)single nucleotide variantPathogenicrs281865133GRCh37Chr 1, 161277118: 161277118
75MPZNM_000530.6(MPZ): c.347A> G (p.Asn116Ser)single nucleotide variantPathogenicrs281865130GRCh37Chr 1, 161276599: 161276599
76MPZNM_000530.6(MPZ): c.645+1G> Tsingle nucleotide variantPathogenicrs281865131GRCh37Chr 1, 161275897: 161275897
77MPZNM_000530.6(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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Cellular components related to Charcot-Marie-Tooth Disease, Type 1b according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1growth coneGO:003042610.1IGHMBP2, NEFL, TRPV4
2cytosolGO:00058297.5AARS, CHM, DNAJB2, DYNC1H1, HSPB1, LMNA

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial fusionGO:00080539.9GDAP1, MFN2
2anterograde axon cargo transportGO:00080899.7KIF1B, NEFL
3response 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:00000499.7AARS, IGHMBP2, 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