CMTX1
MCID: CHR640
MIFTS: 47

Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 (CMTX1)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, X-Linked Dominant, 1:

Name: Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 58 76
Cmtx1 58 12 60 76
Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked 58 77 54
X-Linked Charcot-Marie-Tooth Disease Type 1 12 54 60
Cmtx 58 54 76
Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 58 13
Hereditary Motor and Sensory Neuropathy, X-Linked 58 54
Charcot-Marie-Tooth Disease X-Linked Dominant 1 12 15
Charcot-Marie-Tooth Disease, X-Linked, 1 54 74
Hmsn, X-Linked 58 54
Cmt1x 12 60
Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked 76
Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1 41
Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1 12
Hereditary Motor and Sensory Neuropathy X-Linked 76
Charcot-Marie-Tooth Neuropathy, X-Linked, 1 58
Charcot-Marie-Tooth Neuropathy X-Linked 1 76
Charcot-Marie-Tooth Neuropathy X Type 1 54
Charcot Marie Tooth Disease X-Linked 1 54
Cmt2, Formerly 58
Hmsn X-Linked 76
Cmtx 1 54

Characteristics:

Orphanet epidemiological data:

60
x-linked charcot-marie-tooth disease type 1
Inheritance: X-linked dominant; Age of onset: Childhood;

OMIM:

58
Miscellaneous:
variable phenotype
onset in childhood
incomplete penetrance
usually begins in feet and legs (peroneal distribution)
slow progression
upper limb involvement occurs later
both demyelinating and axonal features
heterozygous females more mildly affected than hemizygous males

Inheritance:
x-linked dominant


HPO:

33
charcot-marie-tooth disease, x-linked dominant, 1:
Onset and clinical course incomplete penetrance slow progression
Inheritance x-linked dominant inheritance x-linked recessive inheritance


Classifications:



Summaries for Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

OMIM : 58 Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory peripheral neuropathies. On the basis of electrophysiologic properties and histopathology, CMT has been divided into primary peripheral demyelinating (type 1) and primary peripheral axonal (type 2) neuropathies. The demyelinating neuropathies classified as CMT type 1, also known as HMSN I, are characterized by severely reduced motor nerve conduction velocities (NCV) (less than 38 m/s) and segmental demyelination and remyelination with onion bulb formations on nerve biopsy (see CMT1B; 118200). The axonal neuropathies classified as CMT type 2, also known as HMSN II, are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy (see CMT2A1; 118210). Distal hereditary motor neuropathy (dHMN) (see 158590) is a spinal type of CMT characterized by exclusive motor involvement and sparing of sensory nerves (Pareyson, 1999). There are X-linked, autosomal dominant (see 118200), and autosomal recessive (see 214400) forms of CMT. The form of Charcot-Marie-Tooth neuropathy that maps to chromosome Xq13 (CMTX1) is X-linked dominant or X-linked intermediate; heterozygous females are more mildly affected than are hemizygous males. (302800)

MalaCards based summary : Charcot-Marie-Tooth Disease, X-Linked Dominant, 1, also known as cmtx1, is related to tooth disease and sensory peripheral neuropathy, and has symptoms including tremor, paraparesis and numbness. An important gene associated with Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 is GJB1 (Gap Junction Protein Beta 1), and among its related pathways/superpathways are Neural Crest Differentiation and Gap junction trafficking. The drug 4-des-dimethylaminotetracycline has been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are sensory neuropathy and pes cavus

Disease Ontology : 12 A Charcot-Marie-Tooth disease X-linked that has material basis in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13.

UniProtKB/Swiss-Prot : 76 Charcot-Marie-Tooth disease, X-linked dominant, 1: A 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 characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. CMTX1 has both demyelinating and axonal features. Central nervous system involvement may occur.

Wikipedia : 77 Charcot–Marie–Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group of... more...

Related Diseases for Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

Diseases in the X-Linked Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

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

(show all 43)
# Related Disease Score Top Affiliating Genes
1 tooth disease 30.5 GDAP1 GJB1 MPZ
2 sensory peripheral neuropathy 29.8 GDAP1 GJB1 MPZ
3 charcot-marie-tooth disease 29.8 GAN GDAP1 GJB1 MPZ
4 peripheral nervous system disease 29.3 GAN GDAP1 GJB1 MPZ
5 neuropathy 29.1 GAN GDAP1 GJB1 MPZ
6 charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita 12.8
7 x-linked charcot-marie-tooth disease 11.7
8 charcot-marie-tooth neuropathy x type 1 11.1
9 charcot-marie-tooth disease, axonal, type 2a1 11.1
10 charcot-marie-tooth disease, x-linked recessive, 5 11.1
11 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 11.1
12 charcot-marie-tooth disease, x-linked recessive, 2 11.1
13 charcot-marie-tooth disease, x-linked recessive, 3 11.1
14 cowchock syndrome 11.1
15 amyotrophic lateral sclerosis 1 10.4
16 intermittent claudication 10.4
17 lateral sclerosis 10.4
18 pelizaeus-merzbacher-like disease 10.2 GJB1 GJC2
19 charcot-marie-tooth disease, demyelinating, type 1f 10.1 GJB1 MPZ
20 charcot-marie-tooth disease, axonal, type 2f 10.1 GJB1 MPZ
21 charcot-marie-tooth disease, axonal, type 2d 10.1 GJB1 MPZ
22 charcot-marie-tooth disease, demyelinating, type 1c 10.1 GJB1 MPZ
23 hallermann-streiff syndrome 10.1 GJB1 GJC2
24 charcot-marie-tooth disease, demyelinating, type 1b 10.1 GJB1 MPZ
25 charcot-marie-tooth disease, axonal, type 2b 10.1 GJB1 MPZ
26 leukodystrophy, hypomyelinating, 2 10.1 GJB1 GJC2
27 motor peripheral neuropathy 10.1 GJB1 MPZ
28 charcot-marie-tooth disease, demyelinating, type 1d 10.1 GJB1 MPZ
29 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.1 GJB1 MPZ
30 autoimmune peripheral neuropathy 10.0 GJB1 MPZ
31 transient cerebral ischemia 10.0
32 sensory neuropathy type 1 10.0
33 hypomyelinating leukodystrophy 10.0 GJB1 GJC2
34 charcot-marie-tooth disease, type 4d 10.0 GDAP1 GJB1
35 pelizaeus-merzbacher disease 10.0 GJC2 MPZ
36 charcot-marie-tooth disease, demyelinating, type 1a 9.8 GDAP1 GJB1 MPZ
37 neuropathy, hereditary, with liability to pressure palsies 9.8 GDAP1 GJB1 MPZ
38 hereditary motor and sensory neuropathy, type iic 9.8 GDAP1 GJB1 MPZ
39 charcot-marie-tooth disease and deafness 9.8 GDAP1 GJB1 MPZ
40 hypertrophic neuropathy of dejerine-sottas 9.8 GDAP1 GJB1 MPZ
41 polyneuropathy 9.7 GDAP1 MPZ
42 axonal neuropathy 9.6 GAN GDAP1
43 charcot-marie-tooth disease, axonal, type 2e 9.4 GAN GDAP1 GJB1 MPZ

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 1:



Diseases related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

Human phenotypes related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 1:

60 33 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensory neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000763
2 pes cavus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001761
3 areflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001284
4 abnormal nerve conduction velocity 60 33 hallmark (90%) Very frequent (99-80%) HP:0040129
5 distal lower limb amyotrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008944
6 distal upper limb amyotrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0007149
7 impaired pain sensation 60 33 frequent (33%) Frequent (79-30%) HP:0007328
8 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
9 dysarthria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001260
10 gait disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0001288
11 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
12 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
13 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
14 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
15 language impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002463
16 excessive daytime somnolence 60 33 occasional (7.5%) Occasional (29-5%) HP:0001262
17 nystagmus 33 occasional (7.5%) HP:0000639
18 sensorineural hearing impairment 33 occasional (7.5%) HP:0000407
19 babinski sign 33 occasional (7.5%) HP:0003487
20 dysmetria 33 occasional (7.5%) HP:0001310
21 cerebellar atrophy 33 occasional (7.5%) HP:0001272
22 lower limb hyperreflexia 33 occasional (7.5%) HP:0002395
23 incoordination 33 occasional (7.5%) HP:0002311
24 dysphagia 33 HP:0002015
25 peripheral neuropathy 33 HP:0009830
26 decreased motor nerve conduction velocity 33 HP:0003431
27 achilles tendon contracture 33 HP:0001771
28 toe walking 33 HP:0040083
29 motor delay 33 HP:0001270
30 difficulty walking 33 HP:0002355
31 hyporeflexia 33 HP:0001265
32 distal muscle weakness 33 HP:0002460
33 paraparesis 33 HP:0002385
34 distal amyotrophy 33 HP:0003693
35 distal sensory impairment 33 HP:0002936
36 abnormality of the cerebral white matter 33 HP:0002500
37 decreased number of peripheral myelinated nerve fibers 33 HP:0003380
38 motor aphasia 33 HP:0002427
39 onion bulb formation 33 HP:0003383
40 axonal degeneration 33 HP:0040078
41 peripheral axonal degeneration 33 HP:0000764

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
tremor
dysphagia
paraparesis
motor aphasia
more
Skeletal Feet:
pes cavus

Muscle Soft Tissue:
type 1 fiber predominance
fiber size variation
distal muscle atrophy
muscle biopsy showed neurogenic changes

Head And Neck Ears:
sensorineural hearing loss (uncommon)

Neurologic Peripheral Nervous System:
gait disturbance
hyporeflexia
distal sensory impairment
axonal degeneration
distal limb muscle weakness due to peripheral neuropathy
more
Head And Neck Eyes:
nystagmus (in some patients)

Skeletal Limbs:
achilles tendon contractures

Clinical features from OMIM:

302800

UMLS symptoms related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 1:


tremor, paraparesis, numbness, monoparesis

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.1 GAN GDAP1 GJB1 GJC2 GJC3 MPZ

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 4-des-dimethylaminotetracycline

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study Recruiting NCT03550300

Search NIH Clinical Center for Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

Genetic Tests for Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

Anatomical Context for Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 1:

42
Eye

Publications for Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

Articles related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 1:

(show all 20)
# Title Authors Year
1
A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms. ( 31068899 )
2019
2
Anaesthesia and orphan diseases: anaesthetic management of a patient with X-linked Charcot-Marie-Tooth disease type 1. ( 29870477 )
2018
3
Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1. ( 29998508 )
2018
4
Coexistence of Amyotrophic Lateral Sclerosis in the Proband of an X-Linked Charcot-Marie-Tooth Disease Type 1 Pedigree in China. ( 29629536 )
2018
5
A case with CMTX1 disease showing transient ischemic-attack-like episodes. ( 29153916 )
2018
6
Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1. ( 28448691 )
2017
7
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). ( 28768847 )
2017
8
Erratum to: CMTX1 patients' cells present genomic instability corrected by CamKII inhibitors. ( 26809434 )
2016
9
CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction. ( 27098243 )
2016
10
X-Linked Hereditary Motor Sensory Neuropathy Type 1 (CMTX1) in a Three-Generation Gelao Chinese Family. ( 26479765 )
2015
11
CMTX1 patients' cells present genomic instability corrected by CamKII inhibitors. ( 25947624 )
2015
12
Study of antibodies to PMP22, IL-6 and TNF-alpha concentrations in serum in a CMTX1 family. ( 17714866 )
2007
13
Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population. ( 17100997 )
2006
14
Charcot-Marie-Tooth disease: histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1). ( 9466597 )
1998
15
Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. Online. ( 10671058 )
1998
16
Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). ( 9099841 )
1997
17
Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1. ( 7615296 )
1995
18
X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms. ( 7912286 )
1994
19
Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1) ( 8162049 )
1994
20
CMTX1: a gap junction genetic disease. ( 7910226 )
1994

Variations for Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, X-Linked Dominant, 1:

76 (show top 50) (show all 188)
# Symbol AA change Variation ID SNP ID
1 GJB1 p.Trp3Arg VAR_002006
2 GJB1 p.Trp3Ser VAR_002007
3 GJB1 p.Tyr7Cys VAR_002008
4 GJB1 p.Thr8Pro VAR_002009
5 GJB1 p.Ser11Gly VAR_002010
6 GJB1 p.Gly12Ser VAR_002011
7 GJB1 p.Val13Leu VAR_002012 rs104894820
8 GJB1 p.Val13Met VAR_002013 rs104894820
9 GJB1 p.Asn14Lys VAR_002014
10 GJB1 p.Arg15Gln VAR_002015 rs863224974
11 GJB1 p.Arg15Trp VAR_002016 rs116840815
12 GJB1 p.His16Pro VAR_002017
13 GJB1 p.Ile20Ser VAR_002018
14 GJB1 p.Gly21Asp VAR_002019
15 GJB1 p.Arg22Gly VAR_002020
16 GJB1 p.Arg22Pro VAR_002021
17 GJB1 p.Arg22Gln VAR_002022 rs106050100
18 GJB1 p.Val23Ala VAR_002023
19 GJB1 p.Leu25Phe VAR_002024
20 GJB1 p.Ser26Leu VAR_002025 rs587777876
21 GJB1 p.Ile28Thr VAR_002026 rs768834663
22 GJB1 p.Phe29Leu VAR_002028
23 GJB1 p.Ile30Asn VAR_002029 rs104894817
24 GJB1 p.Met34Thr VAR_002030 rs106050099
25 GJB1 p.Met34Val VAR_002031
26 GJB1 p.Val35Met VAR_002032
27 GJB1 p.Val38Met VAR_002033 rs879254012
28 GJB1 p.Ala39Pro VAR_002034
29 GJB1 p.Ala39Val VAR_002035 rs786204095
30 GJB1 p.Ala40Val VAR_002036
31 GJB1 p.Glu41Lys VAR_002037
32 GJB1 p.Val43Met VAR_002038
33 GJB1 p.Trp44Leu VAR_002039
34 GJB1 p.Ser49Tyr VAR_002040
35 GJB1 p.Ser50Pro VAR_002041 rs913934445
36 GJB1 p.Cys53Ser VAR_002042
37 GJB1 p.Leu56Phe VAR_002043
38 GJB1 p.Pro58Arg VAR_002044
39 GJB1 p.Gly59Cys VAR_002045
40 GJB1 p.Cys60Phe VAR_002046
41 GJB1 p.Val63Ile VAR_002047 rs116840818
42 GJB1 p.Cys64Ser VAR_002048
43 GJB1 p.Tyr65Cys VAR_002049 rs104894819
44 GJB1 p.Arg75Pro VAR_002051
45 GJB1 p.Arg75Gln VAR_002052 rs863224972
46 GJB1 p.Arg75Trp VAR_002053 rs116840819
47 GJB1 p.Trp77Ser VAR_002054 rs199570177
48 GJB1 p.Gln80Arg VAR_002055 rs879254097
49 GJB1 p.Leu81Phe VAR_002056
50 GJB1 p.Leu83Pro VAR_002057

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, X-Linked Dominant, 1:

6 (show top 50) (show all 86)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB1 NM_000166.5(GJB1): c.424C> T (p.Arg142Trp) single nucleotide variant Pathogenic rs104894810 GRCh37 Chromosome X, 70443981: 70443981
2 GJB1 NM_000166.5(GJB1): c.424C> T (p.Arg142Trp) single nucleotide variant Pathogenic rs104894810 GRCh38 Chromosome X, 71224131: 71224131
3 GJB1 NM_001097642.2(GJB1): c.514C> T (p.Pro172Ser) single nucleotide variant Pathogenic rs104894811 GRCh37 Chromosome X, 70444071: 70444071
4 GJB1 NM_001097642.2(GJB1): c.514C> T (p.Pro172Ser) single nucleotide variant Pathogenic rs104894811 GRCh38 Chromosome X, 71224221: 71224221
5 GJB1 NM_000166.5(GJB1): c.415G> A (p.Val139Met) single nucleotide variant Pathogenic rs104894812 GRCh37 Chromosome X, 70443972: 70443972
6 GJB1 NM_000166.5(GJB1): c.415G> A (p.Val139Met) single nucleotide variant Pathogenic rs104894812 GRCh38 Chromosome X, 71224122: 71224122
7 GJB1 NM_001097642.2(GJB1): c.397T> C (p.Trp133Arg) single nucleotide variant Pathogenic rs104894813 GRCh37 Chromosome X, 70443954: 70443954
8 GJB1 NM_001097642.2(GJB1): c.397T> C (p.Trp133Arg) single nucleotide variant Pathogenic rs104894813 GRCh38 Chromosome X, 71224104: 71224104
9 GJB1 NM_000166.5(GJB1): c.658C> T (p.Arg220Ter) single nucleotide variant Pathogenic rs104894814 GRCh37 Chromosome X, 70444215: 70444215
10 GJB1 NM_000166.5(GJB1): c.658C> T (p.Arg220Ter) single nucleotide variant Pathogenic rs104894814 GRCh38 Chromosome X, 71224365: 71224365
11 GJB1 NM_001097642.2(GJB1): c.89T> A (p.Ile30Asn) single nucleotide variant Pathogenic rs104894817 GRCh37 Chromosome X, 70443646: 70443646
12 GJB1 NM_001097642.2(GJB1): c.89T> A (p.Ile30Asn) single nucleotide variant Pathogenic rs104894817 GRCh38 Chromosome X, 71223796: 71223796
13 GJB1 NM_000166.5(GJB1): c.467T> G (p.Leu156Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894818 GRCh37 Chromosome X, 70444024: 70444024
14 GJB1 NM_000166.5(GJB1): c.467T> G (p.Leu156Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894818 GRCh38 Chromosome X, 71224174: 71224174
15 GJB1 NM_001097642.2(GJB1): c.194A> G (p.Tyr65Cys) single nucleotide variant Pathogenic rs104894819 GRCh37 Chromosome X, 70443751: 70443751
16 GJB1 NM_001097642.2(GJB1): c.194A> G (p.Tyr65Cys) single nucleotide variant Pathogenic rs104894819 GRCh38 Chromosome X, 71223901: 71223901
17 GJB1 NM_001097642.2(GJB1): c.37G> T (p.Val13Leu) single nucleotide variant Pathogenic rs104894820 GRCh37 Chromosome X, 70443594: 70443594
18 GJB1 NM_001097642.2(GJB1): c.37G> T (p.Val13Leu) single nucleotide variant Pathogenic rs104894820 GRCh38 Chromosome X, 71223744: 71223744
19 GJB1 GJB1, 1-BP DEL deletion Pathogenic
20 GJB1 NM_000166.5(GJB1): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic rs104894821 GRCh37 Chromosome X, 70443840: 70443840
21 GJB1 NM_000166.5(GJB1): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic rs104894821 GRCh38 Chromosome X, 71223990: 71223990
22 GJB1 NM_000166.5(GJB1): c.614A> G (p.Asn205Ser) single nucleotide variant Pathogenic rs104894822 GRCh37 Chromosome X, 70444171: 70444171
23 GJB1 NM_000166.5(GJB1): c.614A> G (p.Asn205Ser) single nucleotide variant Pathogenic rs104894822 GRCh38 Chromosome X, 71224321: 71224321
24 GJB1 GJB1, 367G-T single nucleotide variant Pathogenic
25 GJB1 NM_001097642.2(GJB1): c.254C> G (p.Ser85Cys) single nucleotide variant Pathogenic rs104894823 GRCh37 Chromosome X, 70443811: 70443811
26 GJB1 NM_001097642.2(GJB1): c.254C> G (p.Ser85Cys) single nucleotide variant Pathogenic rs104894823 GRCh38 Chromosome X, 71223961: 71223961
27 GJB1 GJB1, -528T-G single nucleotide variant Pathogenic
28 GJB1 NM_000166.5(GJB1): c.164C> T (p.Thr55Ile) single nucleotide variant Pathogenic rs104894824 GRCh37 Chromosome X, 70443721: 70443721
29 GJB1 NM_000166.5(GJB1): c.164C> T (p.Thr55Ile) single nucleotide variant Pathogenic rs104894824 GRCh38 Chromosome X, 71223871: 71223871
30 GJB1 GJB1, 21-BP DUP duplication Pathogenic
31 GJB1 GJB1, 3-BP DEL, 304GAG deletion Pathogenic
32 GJB1 GJB1, -526G-C single nucleotide variant Pathogenic
33 GJB1 NM_000166.5(GJB1): c.704T> G (p.Phe235Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs104894825 GRCh37 Chromosome X, 70444261: 70444261
34 GJB1 NM_000166.5(GJB1): c.704T> G (p.Phe235Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs104894825 GRCh38 Chromosome X, 71224411: 71224411
35 GJB1 NM_000166.5(GJB1): c.407T> C (p.Val136Ala) single nucleotide variant Pathogenic rs104894826 GRCh37 Chromosome X, 70443964: 70443964
36 GJB1 NM_000166.5(GJB1): c.407T> C (p.Val136Ala) single nucleotide variant Pathogenic rs104894826 GRCh38 Chromosome X, 71224114: 71224114
37 GJB1 NM_000166.5(GJB1): c.123G> C (p.Glu41Asp) single nucleotide variant Pathogenic rs116840816 GRCh37 Chromosome X, 70443680: 70443680
38 GJB1 NM_000166.5(GJB1): c.123G> C (p.Glu41Asp) single nucleotide variant Pathogenic rs116840816 GRCh38 Chromosome X, 71223830: 71223830
39 GJB1 NM_000166.5(GJB1): c.145T> C (p.Ser49Pro) single nucleotide variant Pathogenic rs116840817 GRCh37 Chromosome X, 70443702: 70443702
40 GJB1 NM_000166.5(GJB1): c.145T> C (p.Ser49Pro) single nucleotide variant Pathogenic rs116840817 GRCh38 Chromosome X, 71223852: 71223852
41 GJB1 NM_000166.5(GJB1): c.187G> A (p.Val63Ile) single nucleotide variant Pathogenic rs116840818 GRCh37 Chromosome X, 70443744: 70443744
42 GJB1 NM_000166.5(GJB1): c.187G> A (p.Val63Ile) single nucleotide variant Pathogenic rs116840818 GRCh38 Chromosome X, 71223894: 71223894
43 GJB1 NM_000166.5(GJB1): c.223C> T (p.Arg75Trp) single nucleotide variant Pathogenic rs116840819 GRCh37 Chromosome X, 70443780: 70443780
44 GJB1 NM_000166.5(GJB1): c.223C> T (p.Arg75Trp) single nucleotide variant Pathogenic rs116840819 GRCh38 Chromosome X, 71223930: 71223930
45 GJB1 NM_000166.5(GJB1): c.225delG (p.Leu76Cysfs) deletion Pathogenic rs116840820 GRCh37 Chromosome X, 70443782: 70443782
46 GJB1 NM_000166.5(GJB1): c.225delG (p.Leu76Cysfs) deletion Pathogenic rs116840820 GRCh38 Chromosome X, 71223932: 71223932
47 GJB1 NM_000166.5(GJB1): c.43C> T (p.Arg15Trp) single nucleotide variant Pathogenic rs116840815 GRCh37 Chromosome X, 70443600: 70443600
48 GJB1 NM_000166.5(GJB1): c.43C> T (p.Arg15Trp) single nucleotide variant Pathogenic rs116840815 GRCh38 Chromosome X, 71223750: 71223750
49 GJB1 NM_000166.5(GJB1): c.536G> A (p.Cys179Tyr) single nucleotide variant Likely pathogenic rs116840822 GRCh37 Chromosome X, 70444093: 70444093
50 GJB1 NM_000166.5(GJB1): c.536G> A (p.Cys179Tyr) single nucleotide variant Likely pathogenic rs116840822 GRCh38 Chromosome X, 71224243: 71224243

Expression for Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, X-Linked Dominant, 1.

Pathways for Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

Pathways related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.96 GJB1 MPZ
2
Show member pathways
10.61 GJB1 GJC2

GO Terms for Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

Cellular components related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.56 GJB1 GJC2 GJC3 ZC4H2
2 myelin sheath GO:0043209 9.33 GJC2 GJC3 MPZ
3 gap junction GO:0005921 9.13 GJB1 GJC2 GJC3
4 connexin complex GO:0005922 8.8 GJB1 GJC2 GJC3

Biological processes related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myelination GO:0042552 8.96 GJC3 MPZ
2 cell communication GO:0007154 8.8 GJB1 GJC2 GJC3

Molecular functions related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJB1 GJC2

Sources for Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

3 CDC
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17 EFO
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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