MCID: CHR527
MIFTS: 51

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

About this section

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

Name: Charcot-Marie-Tooth Disease, Type 1b 51 12
Cmt1b 11 24 53 69
Charcot-Marie-Tooth Neuropathy Type 1b 11 24 69
Charcot-Marie-Tooth Disease Type 1b 11 47 53
Peroneal Muscular Atrophy 11 47 69
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked to Duffy 11 69
Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 51 47
Charcot-Marie-Tooth Disease Demyelinating Type 1b 69 26
Hereditary Motor and Sensory Neuropathy 1b 47 24
Hereditary Motor and Sensory Neuropathy Ib 11 69
 
Hmsn Ib 11 69
Hmsn1b 11 69
Cmt 1b 47 24
Autosomal Dominant Charcot-Marie-Tooth Disease with Focally Folded Myelin Sheaths Type 1b 11
Charcot-Marie-Tooth Disease, Type Ib 67
Charcot Marie Tooth Disease Type 1b 47
Charcot-Marie-Tooth Disease 1b 69
Charcot-Marie-Tooth Disease 67
Hmsn 1b 47

Characteristics:

Orphanet epidemiological data:

53
cmt1b:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy

HPO:

63
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:

OMIM51 118200
Disease Ontology11 DOID:0110152
ICD1029 G60.0
Orphanet53 ORPHA101082
ICD10 via Orphanet30 G60.0
UMLS via Orphanet68 C0270912
MedGen36 C0270912

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

About this section
OMIM:51 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 via and charcot-marie-tooth disease, and has symptoms including sleeplessness, vertigo/dizziness and chronic pain. An important gene associated with Charcot-Marie-Tooth Disease, Type 1b is MPZ (Myelin Protein Zero), and among its related pathways is Neural Crest Differentiation. Related mouse phenotypes are muscle and homeostasis/metabolism.

Disease Ontology:11 A Charcot-Marie-Tooth disease type 1 that has material basis in heterozygous mutation in the gene encoding myelin protein zero (MPZ).

UniProtKB/Swiss-Prot:69 Charcot-Marie-Tooth disease 1B: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.

Related Diseases for Charcot-Marie-Tooth Disease, Type 1b

About this section

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 2a1 Charcot-Marie-Tooth Disease, Type 2a2
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Type 2b1 charcot-marie-tooth disease, type 1b
Charcot-Marie-Tooth Disease, Type 2j Charcot-Marie-Tooth Disease, Type 2i
Charcot-Marie-Tooth Disease, Type 2b Charcot-Marie-Tooth Disease, Type 2r
Charcot-Marie-Tooth Disease, Type 4c Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Type 2d Charcot-Marie-Tooth Disease, Type 2e
Charcot-Marie-Tooth Disease, Type 1f Charcot-Marie-Tooth Disease, Type 4a
Charcot-Marie-Tooth Disease, Recessive Intermediate, a Charcot-Marie-Tooth Disease, Type 4d
Charcot-Marie-Tooth Disease, Type 1d Charcot-Marie-Tooth Disease, Dominant Intermediate a
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 1c
Charcot-Marie-Tooth Disease, Recessive Intermediate, B Charcot-Marie-Tooth Disease, Type 1a
Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Type 4f Charcot-Marie-Tooth Disease, Type 2b2
Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 4k Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease Type 2a Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Disease Type 2g
Charcot-Marie-Tooth Disease Type 2k Charcot-Marie-Tooth Disease Type 2l
Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease Type 2o
Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Recessive Charcot Marie Tooth Disease Type 2x Autosomal Dominant Charcot-Marie-Tooth Disease Type 2z
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Charcot-Marie-Tooth Disease Type 2t
Pmp2-Related Charcot-Marie-Tooth Disease Type 1 Charcot-Marie-Tooth Disease 2a2b
Charcot-Marie-Tooth Disease 2z

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

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary motor and sensory neuropathy via31.8MFN2, PMP22
2charcot-marie-tooth disease10.8
3tooth disease10.8
4charcot-marie-tooth disease, type 2a110.7
5charcot-marie-tooth disease, type 2a210.7
6charcot-marie-tooth disease, type 2b110.7
7hereditary motor and sensory neuropathy v10.7
8charcot-marie-tooth disease, type 1d10.7
9charcot-marie-tooth disease, type 1c10.7
10charcot-marie-tooth disease, type 1a10.7
11charcot-marie-tooth disease, type 2b210.7
12charcot-marie-tooth neuropathy, x-linked dominant, 110.7
13roussy-levy syndrome10.7
14hereditary orotic aciduria without megaloblastic anaemia10.6MPZ, PMP22
15congestive heart failure10.6MPZ, PMP22
16headache10.6MPZ, PMP22
17charcot-marie-tooth neuropathy type 2o10.6HSPB8, MPZ
18charcot-marie-tooth disease type 2o10.5HSPB8, MPZ
19charcot-marie-tooth disease type 2f10.5KIF1B, MFN2
20charcot-marie-tooth disease, type 1e10.4MPZ, PMP22
21ureter leiomyoma10.4PMP22, SH3TC2
22squamous cell papilloma10.4MFN2, MPZ, PMP22
23chronic polyneuropathy10.3MPZ, PMP22
24neurofibromatosis, type 110.2
25neuropathy10.2
26early-onset glaucoma10.2HSPB1, HSPB8
27splenic marginal zone lymphoma10.1DYNC1H1, IGHMBP2, TRPV4
28hypotrichosis 610.1PMP22, SH3TC2
29testicular thecoma10.0DYNC1H1, HSPB8, IGHMBP2, TRPV4
30charcot-marie-tooth neuropathy type 2e/1f10.0GJB1, MPZ, PMP22
31potocki-lupski syndrome10.0GJB1, MPZ, PMP22
32pancreatic vasoactive intestinal peptide producing tumor9.9GJB1, MPZ, PMP22
33pituitary adenoma, growth hormone-secreting9.9AARS, IGHMBP2, MED25, PMP22
34chronic intestinal vascular insufficiency9.8GJB1, MPZ, PMP22
35secondary hypertrophic osteoarthropathy9.7GJB1, KIF1B, MPZ, PMP22
36anal canal adenocarcinoma9.7GJB1, KIF1B, MPZ, PMP22
37charcot-marie-tooth neuropathy x type 19.7GDAP1, MPZ, SBF1, SH3TC2
38cranial pseudosarcomatous fasciitis9.6GDAP1, LMNA, MFN2, PMP22, TRPV4
39hypertonia9.5DNAJB2, GJB1, MFN2, MPZ, PMP22
40angiodysplasia9.4GDAP1, GJB1, KIF1B, MPZ, PMP22
41trachea leiomyoma9.3GJB1, KIF1B, MFN2, MPZ, PMP22, SH3TC2
42genital herpes9.2GDAP1, GJB1, MFN2, MPZ, MT-ATP6, PMP22
43dejerine-sottas disease9.2GDAP1, GJB1, KIF1B, MPZ, PMP22, SH3TC2
44occupational dermatitis9.0GDAP1, GJB1, MFN2, MPZ, PMP22, SH3TC2
45neuropathy, congenital hypomyelinating8.7DNAJB2, GDAP1, HSPB1, HSPB8, KIF1B, MFN2
46charcot-marie-tooth disease, type 1f7.5AARS, DNAJB2, GDAP1, GJB1, HSPB8, IGHMBP2
47thrombophilia due to antithrombin iii deficiency6.4AARS, DNAJB2, DYNC1H1, GDAP1, HSPB1, HSPB8
48amnestic disorder6.1AARS, GDAP1, GJB1, HSPB1, HSPB8, KIF1B
49charcot-marie-tooth neuropathy type 2a5.4AARS, DNAJB2, DYNC1H1, GDAP1, GJB1, HSPB1
50childhood-onset cerebral x-linked adrenoleukodystrophy5.2AARS, 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

About this section

Symptoms by clinical synopsis from OMIM:

118200

Clinical features from OMIM:

118200

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

 63 (show all 19)
id Description HPO Frequency HPO Source Accession
1 ulnar claw63 HP:0001178
2 hyporeflexia63 HP:0001265
3 areflexia63 HP:0001284
4 pes cavus63 HP:0001761
5 hammertoe63 HP:0001765
6 distal muscle weakness63 HP:0002460
7 kyphoscoliosis63 HP:0002751
8 distal sensory impairment63 HP:0002936
9 steppage gait63 HP:0003376
10 decreased number of peripheral myelinated nerve fibers63 HP:0003380
11 hypertrophic nerve changes63 HP:0003382
12 onion bulb formation63 HP:0003383
13 decreased motor nerve conduction velocity63 HP:0003431
14 cold-induced muscle cramps63 HP:0003449
15 distal amyotrophy63 HP:0003693
16 myelin outfoldings63 HP:0004336
17 foot dorsiflexor weakness63 HP:0009027
18 peripheral demyelination63 HP:0011096
19 tonic pupil63 HP:0012074

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


sleeplessness, vertigo/dizziness, chronic pain, tremor, syncope, seizures, sciatica, pain, headache, back pain, tonic pupil, gait, drop foot

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

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
protease inhibitors5320
Synonyms:
 
protease inhibitors
2Matrix Metalloproteinase Inhibitors18
3HIV Protease Inhibitors5319
44-des-dimethylaminotetracycline8

Interventional clinical trials:

idNameStatusNCT IDPhase
1Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited NeuropathiesCompletedNCT02788734
2Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and OthersRecruitingNCT01193075
3Genetics of Pediatric-Onset Motor Neuron and Neuromuscular DiseasesRecruitingNCT02532244

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

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

About this section

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

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b26
2 Charcot-Marie-Tooth Neuropathy Type 1b24 MPZ

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

About this section

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

About this section

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

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.0AARS, DYNC1H1, HSPB8, IGHMBP2, KIF1B, LMNA
2MP:00053766.9GDAP1, GJB1, HSPB1, HSPB8, IGHMBP2, KIF1B
3MP:00107686.4AARS, DYNC1H1, GJB1, HSPB8, IGHMBP2, KIF1B
4MP:00053866.3AARS, DYNC1H1, GDAP1, GJB1, IGHMBP2, KIF1B
5MP:00036315.9AARS, DYNC1H1, GDAP1, GJB1, IGHMBP2, KIF1B

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

About this section

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

(show all 21)
idTitleAuthorsYear
1
Effective cauda equina decompression in two siblings with Charcot-Marie-Tooth disease type 1B. (27614573)
2016
2
A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b. (27344971)
2016
3
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

About this section

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

69 (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)SNVPathogenicrs145770066GRCh37Chr 19, 50334047: 50334047
2MPZNM_000530.7(MPZ): c.286A> G (p.Lys96Glu)SNVPathogenicrs121913583GRCh37Chr 1, 161276660: 161276660
3MPZNM_000530.7(MPZ): c.270C> A (p.Asp90Glu)SNVPathogenicrs121913584GRCh37Chr 1, 161276676: 161276676
4MPZMPZ, 3-BP DEL, SER34DELdeletionPathogenicChr na, -1: -1
5MPZNM_000530.7(MPZ): c.499G> C (p.Gly167Arg)SNVPathogenicrs121913586GRCh37Chr 1, 161276204: 161276204
6MPZMPZ, THR216GLU-ARGundetermined variantPathogenicChr na, -1: -1
7MPZNM_000530.7(MPZ): c.404T> C (p.Ile135Thr)SNVPathogenicrs121913587GRCh37Chr 1, 161276542: 161276542
8MPZNM_000530.7(MPZ): c.409G> A (p.Gly137Ser)SNVPathogenicrs121913588GRCh37Chr 1, 161276537: 161276537
9MPZNM_000530.7(MPZ): c.293G> C (p.Arg98Pro)SNVPathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
10MPZNM_000530.7(MPZ): c.292C> T (p.Arg98Cys)SNVPathogenicrs121913590GRCh37Chr 1, 161276654: 161276654
11MPZNM_000530.7(MPZ): c.293G> A (p.Arg98His)SNVPathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
12MPZNM_000530.7(MPZ): c.188C> T (p.Ser63Phe)SNVPathogenicrs121913585GRCh37Chr 1, 161277094: 161277094
13MPZNM_000530.7(MPZ): c.242A> G (p.His81Arg)SNVPathogenicrs121913594GRCh37Chr 1, 161276704: 161276704
14MPZNM_000530.7(MPZ): c.371C> T (p.Thr124Met)SNVPathogenicrs121913595GRCh37Chr 1, 161276575: 161276575
15MPZNM_000530.7(MPZ): c.224A> T (p.Asp75Val)SNVPathogenicrs121913597GRCh37Chr 1, 161277058: 161277058
16MPZNM_000530.7(MPZ): c.131C> T (p.Ser44Phe)SNVPathogenicrs121913598GRCh37Chr 1, 161277151: 161277151
17MPZNM_000530.7(MPZ): c.393C> A (p.Asn131Lys)SNVPathogenicrs121913599GRCh37Chr 1, 161276553: 161276553
18MPZNM_000530.7(MPZ): c.308G> A (p.Gly103Glu)SNVPathogenicrs121913600GRCh37Chr 1, 161276638: 161276638
19MPZNM_000530.7(MPZ): c.233C> T (p.Ser78Leu)SNVPathogenicrs121913601GRCh37Chr 1, 161277049: 161277049
20MPZNM_000530.7(MPZ): c.434A> C (p.Tyr145Ser)SNVPathogenicrs121913603GRCh37Chr 1, 161276512: 161276512
21MPZMPZ, IVS4DS, T-G, +2SNVPathogenicChr na, -1: -1
22MPZNM_000530.7(MPZ): c.367G> A (p.Gly123Ser)SNVPathogenicrs121913608GRCh37Chr 1, 161276579: 161276579
23MPZMPZ, VAL102VALSNVPathogenicChr na, -1: -1
24MPZMPZ, ASP195TYRSNVPathogenicChr na, -1: -1
25LMNANM_170707.3(LMNA): c.1579C> T (p.Arg527Cys)SNVPathogenicrs57318642GRCh37Chr 1, 156106994: 156106994
26LMNANM_170707.3(LMNA): c.398G> T (p.Arg133Leu)SNVPathogenicrs60864230GRCh37Chr 1, 156100449: 156100449
27LMNANM_170707.3(LMNA): c.892C> T (p.Arg298Cys)SNVPathogenicrs59885338GRCh37Chr 1, 156105059: 156105059
28LMNANM_170707.3(LMNA): c.1411C> T (p.Arg471Cys)SNVPathogenicrs28928902GRCh37Chr 1, 156106742: 156106742
29MARSNM_004990.3(MARS): c.1852C> T (p.Arg618Cys)SNVPathogenicrs587777718GRCh37Chr 12, 57906632: 57906632
30GJB1NM_000166.5(GJB1): c.688C> T (p.Arg230Cys)SNVPathogenicrs587781246GRCh38Chr X, 71224395: 71224395
31HSPB1NM_001540.3(HSPB1): c.380G> T (p.Arg127Leu)SNVPathogenicrs587781250GRCh38Chr 7, 76303817: 76303817
32SBF1NM_002972.3(SBF1): c.1327G> A (p.Asp443Asn)SNVLikely pathogenic, Pathogenicrs690016543GRCh37Chr 22, 50903435: 50903435
33IGHMBP2NM_002180.2(IGHMBP2): c.138T> A (p.Cys46Ter)SNVPathogenicrs372000714GRCh38Chr 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)SNVPathogenicrs724159958GRCh38Chr 11, 68911496: 68911496
36DNAJB2NM_001039550.1(DNAJB2): c.229+1G> ASNVPathogenicrs730882139GRCh37Chr 2, 220146494: 220146494
37DNAJB2NM_001039550.1(DNAJB2): c.14A> G (p.Tyr5Cys)SNVPathogenicrs730882140GRCh37Chr 2, 220144569: 220144569
38MARSNM_004990.3(MARS): c.2398C> A (p.Pro800Thr)SNVPathogenicrs781249411GRCh37Chr 12, 57909709: 57909709
39AARSNM_001605.2(AARS): c.2333A> C (p.Glu778Ala)SNVPathogenicrs797044801GRCh38Chr 16, 70254688: 70254688
40LRSAM1NM_138361.5(LRSAM1): c.1913-1G> ASNVPathogenicrs756880678GRCh37Chr 9, 130263288: 130263288
41IGHMBP2NM_002180.2(IGHMBP2): c.1591C> A (p.Pro531Thr)SNVPathogenicrs756985703GRCh38Chr 11, 68934517: 68934517
42IGHMBP2NM_002180.2(IGHMBP2): c.449+1G> TSNVLikely pathogenic, Pathogenicrs797044802GRCh38Chr 11, 68908338: 68908338
43IGHMBP2NM_002180.2(IGHMBP2): c.2784+1G> TSNVPathogenicrs797044803GRCh38Chr 11, 68938355: 68938355
44MPZNM_000530.7(MPZ): c.181G> A (p.Asp61Asn)SNVPathogenicrs797044845GRCh37Chr 1, 161277101: 161277101
45MPZNM_000530.7(MPZ): c.241C> T (p.His81Tyr)SNV, HaplotypePathogenicrs281865123GRCh37Chr 1, 161276705: 161276705
46MPZNM_000530.7(MPZ): c.487G> A (p.Gly163Arg)SNVPathogenicrs281865128GRCh38Chr 1, 161306426: 161306426
47MPZNM_000530.7(MPZ): c.499G> A (p.Gly167Arg)SNVPathogenicrs121913586GRCh37Chr 1, 161276204: 161276204
48MPZNP_000521.1(MPZ): p.Asn116Serprotein onlyPathogenicChr na, -1: -1
49MPZNM_000530.7(MPZ): c.451C> A (p.Pro151Thr)SNVLikely pathogenicrs754068936GRCh38Chr 1, 161306462: 161306462
50MPZNM_000530.7(MPZ): c.116A> C (p.His39Pro)SNVPathogenicrs371856018GRCh38Chr 1, 161307376: 161307376
51MPZNM_000530.7(MPZ): c.410G> A (p.Gly137Asp)SNVPathogenicrs863225025GRCh37Chr 1, 161276536: 161276536
52MPZNM_000530.7(MPZ): c.646-10_650deldeletionPathogenicrs863225026GRCh37Chr 1, 161275763: 161275777
53MPZNM_000530.7(MPZ): c.90C> G (p.Ile30Met)SNVPathogenicrs770546306GRCh37Chr 1, 161277192: 161277192
54MFN2NM_014874.3(MFN2): c.310C> T (p.Arg104Trp)SNVPathogenicrs119103268GRCh37Chr 1, 12052746: 12052746
55MPZNC_000001.10: g.161275598_161279773dup4176duplicationLikely pathogenicGRCh37Chr 1, 161275598: 161279773
56MPZNC_000001.10: g.161279434_161299373del19940deletionLikely pathogenicGRCh37Chr 1, 161279434: 161299373
57MPZNM_000530.7(MPZ): c.403A> C (p.Ile135Leu)SNVPathogenicrs879253858GRCh37Chr 1, 161276543: 161276543
58SH3TC2NM_024577.3(SH3TC2): c.2860C> T (p.Arg954Ter)SNVPathogenicrs80338933GRCh37Chr 5, 148406435: 148406435
59MT-ATP6m.9185T> Cundetermined variantPathogenicChr na, -1: -1
60HSPB8NM_014365.2(HSPB8): c.423G> C (p.Lys141Asn)SNVPathogenicrs104894345GRCh37Chr 12, 119624885: 119624885
61HSPB8NM_014365.2(HSPB8): c.421A> G (p.Lys141Glu)SNVPathogenicrs104894351GRCh37Chr 12, 119624883: 119624883
62HSPB8NM_014365.2(HSPB8): c.423G> T (p.Lys141Asn)SNVPathogenicrs104894345GRCh37Chr 12, 119624885: 119624885
63DYNC1H1NM_001376.4(DYNC1H1): c.917A> G (p.His306Arg)SNVPathogenicrs387906738GRCh37Chr 14, 102446843: 102446843
64LRSAM1NM_138361.5(LRSAM1): c.2121_2122dupGC (p.Leu708Argfs)duplicationPathogenicrs786200930GRCh37Chr 9, 130265127: 130265128
65MPZNM_000530.7(MPZ): c.89T> C (p.Ile30Thr)SNVPathogenicrs281865121GRCh37Chr 1, 161277193: 161277193
66MPZNM_000530.7(MPZ): c.175T> A (p.Ser59Thr)SNVPathogenicrs281865122GRCh37Chr 1, 161277107: 161277107
67MPZNM_000530.7(MPZ): c.244T> C (p.Tyr82His)SNVPathogenicrs281865124GRCh37Chr 1, 161276702: 161276702
68MPZNM_000530.7(MPZ): c.266T> C (p.Ile89Thr)SNVPathogenicrs267607244GRCh37Chr 1, 161276680: 161276680
69MPZNM_000530.7(MPZ): c.306delA (p.Asp104Thrfs)deletionPathogenicrs281865125GRCh37Chr 1, 161276640: 161276640
70MPZNM_000530.7(MPZ): c.389A> G (p.Lys130Arg)SNVPathogenicrs281865127GRCh37Chr 1, 161276557: 161276557
71MPZNM_000530.7(MPZ): c.487G> C (p.Gly163Arg)SNVLikely pathogenic, Pathogenicrs281865128GRCh37Chr 1, 161276216: 161276216
72MPZNM_000530.7(MPZ): c.588dupT (p.Met197Tyrfs)duplicationPathogenicrs281865129GRCh37Chr 1, 161275955: 161275955
73MPZNM_000530.7(MPZ): c.670G> T (p.Asp224Tyr)SNVPathogenicrs267607247GRCh37Chr 1, 161275743: 161275743
74MPZNM_000530.7(MPZ): c.164G> T (p.Ser55Ile)SNVPathogenicrs281865133GRCh37Chr 1, 161277118: 161277118
75MPZNM_000530.7(MPZ): c.347A> G (p.Asn116Ser)SNVPathogenicrs281865130GRCh37Chr 1, 161276599: 161276599
76MPZNM_000530.7(MPZ): c.645+1G> TSNVPathogenicrs281865131GRCh37Chr 1, 161275897: 161275897
77MPZNM_000530.7(MPZ): c.649C> T (p.Pro217Ser)SNVPathogenicrs281865132GRCh37Chr 1, 161275764: 161275764
78GDAP1NM_018972.2(GDAP1): c.358C> T (p.Arg120Trp)SNVPathogenicrs104894078GRCh37Chr 8, 75272419: 75272419
79KIF1BNM_015074.3(KIF1B): c.293A> T (p.Gln98Leu)SNVPathogenicrs121908160GRCh37Chr 1, 10318660: 10318660
80TRPV4NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp)SNVPathogenicrs267607143GRCh37Chr 12, 110236628: 110236628
81TRPV4NM_021625.4(TRPV4): c.806G> A (p.Arg269His)SNVPathogenicrs267607144GRCh37Chr 12, 110238470: 110238470
82TRPV4NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys)SNVPathogenicrs267607145GRCh37Chr 12, 110236625: 110236625
83TRPV4NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys)SNVPathogenicrs267607146GRCh37Chr 12, 110238471: 110238471
84LMNANM_170707.3(LMNA): c.1908C> T (p.Ser636=)SNVPathogenicrs80356814GRCh37Chr 1, 156108488: 156108488
85AARSNM_001605.2(AARS): c.986G> A (p.Arg329His)SNVPathogenicrs267606621GRCh37Chr 16, 70302259: 70302259
86IGHMBP2NM_002180.2(IGHMBP2): c.1738G> A (p.Val580Ile)SNVPathogenicrs137852667GRCh37Chr 11, 68702872: 68702872
87MT-ATP6m.9185T> CSNVPathogenicrs199476138GRCh37Chr MT, 9185: 9185

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

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

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

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.1GJB1, MPZ, PMP22

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial fusionGO:000805310.2GDAP1, MFN2
2response to unfolded proteinGO:00069869.5DNAJB2, 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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet