CMTX1
MCID: CHR640
MIFTS: 52

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

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental 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 57 72
Cmtx1 57 12 58 72
Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked 57 73 20
Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 57 29 13
X-Linked Charcot-Marie-Tooth Disease Type 1 12 20 58
Charcot-Marie-Tooth Neuropathy X Type 1 20 29 6
Cmtx 57 20 72
Hereditary Motor and Sensory Neuropathy, X-Linked 57 20
Charcot-Marie-Tooth Disease X-Linked Dominant 1 12 15
Charcot-Marie-Tooth Disease, X-Linked, 1 20 70
Hmsn, X-Linked 57 20
Cmt1x 12 58
Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked 72
Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1 39
Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1 12
Hereditary Motor and Sensory Neuropathy X-Linked 72
Charcot-Marie-Tooth Neuropathy, X-Linked, 1 57
Charcot-Marie-Tooth Neuropathy X-Linked 1 72
Charcot Marie Tooth Disease X-Linked 1 20
Cmt2, Formerly 57
Hmsn X-Linked 72
Cmtx 1 20

Characteristics:

Orphanet epidemiological data:

58
x-linked charcot-marie-tooth disease type 1
Inheritance: X-linked dominant; Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
slow progression
incomplete penetrance
variable phenotype
onset in childhood
usually begins in feet and legs (peroneal distribution)
upper limb involvement occurs later
both demyelinating and axonal features
heterozygous females more mildly affected than hemizygous males

Inheritance:
x-linked dominant


HPO:

31
charcot-marie-tooth disease, x-linked dominant, 1:
Onset and clinical course slow progression incomplete penetrance
Inheritance x-linked dominant inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


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

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Charcot-Marie-Tooth Disease, X-Linked Dominant, 1, also known as cmtx1, is related to charcot-marie-tooth disease x-linked recessive 4 and charcot-marie-tooth disease, axonal, type 2a1, 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 is Neural Crest Differentiation. Affiliated tissues include eye, brain and skin, and related phenotypes are areflexia and sensory neuropathy

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 : 72 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 : 73 Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous... more...

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

Diseases in the Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 family:

Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Charcot-Marie-Tooth Disease X-Linked Recessive 4 X-Linked Charcot-Marie-Tooth Disease

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

(show top 50) (show all 122)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease x-linked recessive 4 31.9 MPZ GJB1
2 charcot-marie-tooth disease, axonal, type 2a1 31.6 MPZ MFN2 GDAP1
3 charcot-marie-tooth disease, x-linked recessive, 2 31.1 MPZ MFN2 LITAF GJB1 EGR2
4 foot drop 30.3 PMP22 MPZ
5 hereditary neuropathies 29.2 PRX PMP22 MTMR2 MPZ MFN2 GJB1
6 polyneuropathy 28.8 SH3TC2 PRX PMP22 MPZ MFN2 LITAF
7 sensory peripheral neuropathy 28.3 SPTLC1 PRX PMP22 MTMR2 MPZ MFN2
8 charcot-marie-tooth disease 27.5 SPTLC1 SH3TC2 PRX PMP22 NEFL MTMR2
9 neuropathy, hereditary, with liability to pressure palsies 27.3 SH3TC2 PRX PMP22 MTMR2 MPZ MFN2
10 charcot-marie-tooth disease, demyelinating, type 1a 27.0 SPTLC1 SH3TC2 PRX PMP22 NEFL MTMR2
11 tooth disease 26.9 SPTLC1 SH3TC2 PRX PMP22 NEFL MTMR2
12 neuropathy 26.7 SPTLC1 SH3TC2 PRX PMP22 NEFL MTMR2
13 peripheral nervous system disease 26.6 SPTLC1 SH3TC2 PRX PMP22 NEFL MTMR2
14 charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita 11.6
15 x-linked charcot-marie-tooth disease 11.4
16 charcot-marie-tooth disease, x-linked recessive, 3 10.9
17 charcot-marie-tooth disease, x-linked recessive, 5 10.9
18 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 10.9
19 hereditary lymphedema ic 10.3 GJC2 GJB1
20 amyotrophic lateral sclerosis 1 10.3
21 lateral sclerosis 10.3
22 hyperthyroidism 10.3
23 hallermann-streiff syndrome 10.3 GJC2 GJB1
24 autoimmune peripheral neuropathy 10.3 MPZ GJB1
25 balo concentric sclerosis 10.3 GJC3 GJC2
26 pelizaeus-merzbacher-like disease 10.3 GJC2 GJB1
27 spastic paraplegia 44, autosomal recessive 10.3 GJC2 GJB1
28 asymmetric motor neuropathy 10.3 PMP22 MFN2
29 charcot-marie-tooth disease, dominant intermediate d 10.3 SH3TC2 MPZ
30 sciatic neuropathy 10.3 SH3TC2 PMP22
31 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 10.3 MFN2 LITAF
32 amyotrophic neuralgia 10.2 PMP22 MPZ
33 charcot-marie-tooth disease, recessive intermediate a 10.2 MFN2 GDAP1
34 mononeuritis of lower limb 10.2 SH3TC2 PMP22
35 lesion of sciatic nerve 10.2 SH3TC2 PMP22
36 bart-pumphrey syndrome 10.2 GJC3 GJB1
37 roussy-levy hereditary areflexic dystasia 10.2 PMP22 MPZ
38 charcot-marie-tooth disease, axonal, type 2w 10.2 MPZ GJB1 GDAP1
39 brachial plexus neuropathy 10.2 PMP22 MPZ GJB1
40 palmoplantar keratoderma and congenital alopecia 1 10.2 GJC3 GJC2 GJB1
41 leukodystrophy, hypomyelinating, 2 10.2 GJC3 GJC2 GJB1
42 oculodentodigital dysplasia 10.2 GJC3 GJC2 GJB1
43 charcot-marie-tooth disease, type 4k 10.2 SH3TC2 LITAF
44 erythrokeratodermia variabilis et progressiva 1 10.2 GJC3 GJC2 GJB1
45 charcot-marie-tooth disease, axonal, type 2b1 10.2 MFN2 GDAP1
46 charcot-marie-tooth disease, axonal, type 2t 10.2 SH3TC2 GDAP1
47 genetic motor neuron disease 10.2 SH3TC2 MPZ MFN2
48 mononeuropathy 10.2 SH3TC2 PMP22 MPZ
49 pelizaeus-merzbacher disease 10.2 PMP22 MPZ GJC2
50 nerve compression syndrome 10.2 SH3TC2 PMP22 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:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 areflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001284
2 sensory neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000763
3 pes cavus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001761
4 distal upper limb amyotrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007149
5 distal lower limb amyotrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008944
6 abnormal nerve conduction velocity 58 31 hallmark (90%) Very frequent (99-80%) HP:0040129
7 impaired pain sensation 58 31 frequent (33%) Frequent (79-30%) HP:0007328
8 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
9 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
10 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
11 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
12 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
13 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
14 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
15 excessive daytime somnolence 58 31 occasional (7.5%) Occasional (29-5%) HP:0001262
16 language impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002463
17 nystagmus 31 occasional (7.5%) HP:0000639
18 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
19 dysmetria 31 occasional (7.5%) HP:0001310
20 babinski sign 31 occasional (7.5%) HP:0003487
21 cerebellar atrophy 31 occasional (7.5%) HP:0001272
22 incoordination 31 occasional (7.5%) HP:0002311
23 lower limb hyperreflexia 31 occasional (7.5%) HP:0002395
24 dysphagia 31 HP:0002015
25 achilles tendon contracture 31 HP:0001771
26 toe walking 31 HP:0040083
27 motor delay 31 HP:0001270
28 peripheral neuropathy 31 HP:0009830
29 hyporeflexia 31 HP:0001265
30 decreased motor nerve conduction velocity 31 HP:0003431
31 abnormality of the cerebral white matter 31 HP:0002500
32 distal muscle weakness 31 HP:0002460
33 difficulty walking 31 HP:0002355
34 distal sensory impairment 31 HP:0002936
35 paraparesis 31 HP:0002385
36 distal amyotrophy 31 HP:0003693
37 motor aphasia 31 HP:0002427
38 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
39 onion bulb formation 31 HP:0003383
40 axonal degeneration 31 HP:0040078
41 peripheral axonal degeneration 31 HP:0000764

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 EGR2 FIG4 GARS1 GDAP1 GJB1 GJC2
2 mortality/aging MP:0010768 9.7 EGR2 FIG4 GARS1 GJB1 GJC2 MFN2
3 nervous system MP:0003631 9.53 EGR2 FIG4 GARS1 GDAP1 GJB1 GJC2

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

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

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

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

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy X Type 1 29 GJB1
2 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 29

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

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

40
Eye, Brain, Skin

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

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

(show top 50) (show all 167)
# Title Authors PMID Year
1
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1). 57 6
23773993 2013
2
X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans. 6 57
21291455 2012
3
Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. 6 57
21254193 2011
4
CMT1X phenotypes represent loss of GJB1 gene function. 57 6
17353473 2007
5
Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation. 57 6
12707076 2003
6
Transient cerebral white matter lesions in a patient with connexin 32 missense mutation. 6 57
12499506 2002
7
Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings. 6 57
10487913 1999
8
Connexin mutations in X-linked Charcot-Marie-Tooth disease. 57 6
8266101 1993
9
A spinocerebellar degeneration with X-linked inheritance. 6 57
427531 1979
10
Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1. 61 6
28448691 2017
11
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). 6 61
28768847 2017
12
Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT. 61 6
28283593 2017
13
Clinical and biophysical characterization of 19 GJB1 mutations. 6 61
27844031 2016
14
A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood. 61 57
21282593 2011
15
X-linked Charcot-Marie-Tooth disease and connexin32. 6 61
10873293 1998
16
Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). 6 61
9099841 1997
17
Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy. 6 61
8737658 1996
18
Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease. 6 61
8733054 1996
19
Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1) 61 6
8162049 1994
20
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 6
28492532 2017
21
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. 6
26392352 2015
22
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 6
26257172 2015
23
Mutational analysis of the 5' non-coding region of GJB1 in a Taiwanese cohort with Charcot-Marie-Tooth neuropathy. 6
23827825 2013
24
Functional requirement for a highly conserved charged residue at position 75 in the gap junction protein connexin 32. 6
23209285 2013
25
Hand weakness in Charcot-Marie-Tooth disease 1X. 6
22464564 2012
26
Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan. 57
21326314 2011
27
A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease. 6
21504505 2011
28
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. 6
19259128 2009
29
GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment. 6
19448103 2009
30
-459C>T point mutation in 5' non-coding region of human GJB1 gene is linked to X-linked Charcot-Marie-Tooth neuropathy. 6
19335535 2009
31
Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population. 57
17100997 2006
32
X-linked Charcot-Marie-Tooth disease and progressive-relapsing central demyelinating disease. 6
16301507 2005
33
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. 6
15947997 2005
34
Severe neuropathy with leaky connexin32 hemichannels. 6
15852376 2005
35
Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction. 6
15470753 2004
36
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. 6
15241803 2004
37
Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease. 6
15006706 2004
38
The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem. 57
14663027 2003
39
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. 6
12402337 2002
40
Diverse trafficking abnormalities of connexin32 mutants causing CMTX. 6
12460545 2002
41
Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment. 6
12297581 2002
42
Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease. 6
11891346 2002
43
Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10. 6
11734543 2001
44
Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene. 6
11723288 2001
45
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. 6
11571214 2001
46
Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity. 6
11437164 2001
47
Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease. 6
11325342 2001
48
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families. 6
11438991 2001
49
Analysis of a Charcot-Marie-Tooth disease mutation reveals an essential internal ribosome entry site element in the connexin-32 gene. 6
10931843 2000
50
Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients. 6
11140841 2000

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

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

6 (show top 50) (show all 83)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJB1 NM_000166.6(GJB1):c.397T>C (p.Trp133Arg) SNV Pathogenic 10434 rs104894813 GRCh37: X:70443954-70443954
GRCh38: X:71224104-71224104
2 GJB1 NM_000166.6(GJB1):c.89T>A (p.Ile30Asn) SNV Pathogenic 10436 rs104894817 GRCh37: X:70443646-70443646
GRCh38: X:71223796-71223796
3 GJB1 NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys) SNV Pathogenic 10438 rs104894819 GRCh37: X:70443751-70443751
GRCh38: X:71223901-71223901
4 GJB1 NM_000166.6(GJB1):c.37G>T (p.Val13Leu) SNV Pathogenic 10439 rs104894820 GRCh37: X:70443594-70443594
GRCh38: X:71223744-71223744
5 GJB1 GJB1, 1-BP DEL Deletion Pathogenic 10440 GRCh37:
GRCh38:
6 GJB1 GJB1, 367G-T SNV Pathogenic 10443 GRCh37:
GRCh38:
7 GJB1 GJB1, -528T-G SNV Pathogenic 10445 GRCh37:
GRCh38:
8 GJB1 GJB1, 21-BP DUP Duplication Pathogenic 10447 GRCh37:
GRCh38:
9 GJB1 GJB1, 3-BP DEL, 304GAG Deletion Pathogenic 10448 GRCh37:
GRCh38:
10 GJB1 GJB1, -526G-C SNV Pathogenic 10449 GRCh37:
GRCh38:
11 GJB1 NM_000166.6(GJB1):c.407T>C (p.Val136Ala) SNV Pathogenic 10451 rs104894826 GRCh37: X:70443964-70443964
GRCh38: X:71224114-71224114
12 GJB1 NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe) Microsatellite Pathogenic 21087 rs116840823 GRCh37: X:70444118-70444119
GRCh38: X:71224268-71224269
13 GJB1 NM_000166.6(GJB1):c.172C>T (p.Pro58Ser) SNV Pathogenic 97063 rs483352926 GRCh37: X:70443729-70443729
GRCh38: X:71223879-71223879
14 GJB1 NM_000166.6(GJB1):c.259C>G (p.Pro87Ala) SNV Pathogenic 155724 rs587777877 GRCh37: X:70443816-70443816
GRCh38: X:71223966-71223966
15 GJB1 NM_000166.6(GJB1):c.580A>G (p.Met194Val) SNV Pathogenic 155725 rs587777878 GRCh37: X:70444137-70444137
GRCh38: X:71224287-71224287
16 GJB1 NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) SNV Pathogenic 217168 rs863224973 GRCh37: X:70443876-70443876
GRCh38: X:71224026-71224026
17 GJB1 NM_000166.6(GJB1):c.466_467CT[1] (p.Tyr157fs) Microsatellite Pathogenic 804027 rs1602349420 GRCh37: X:70444023-70444024
GRCh38: X:71224173-71224174
18 GJB1 NM_000166.6(GJB1):c.783_784del (p.Ile262fs) Deletion Pathogenic 807420 rs1602349955 GRCh37: X:70444339-70444340
GRCh38: X:71224489-71224490
19 GJB1 NM_000166.6(GJB1):c.370A>G (p.Lys124Glu) SNV Pathogenic 477596 rs1555937161 GRCh37: X:70443927-70443927
GRCh38: X:71224077-71224077
20 GJB1 NM_000166.6(GJB1):c.424C>T (p.Arg142Trp) SNV Pathogenic 10431 rs104894810 GRCh37: X:70443981-70443981
GRCh38: X:71224131-71224131
21 GJB1 NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) SNV Pathogenic 10435 rs104894814 GRCh37: X:70444215-70444215
GRCh38: X:71224365-71224365
22 GJB1 NM_000166.6(GJB1):c.467T>G (p.Leu156Arg) SNV Pathogenic 10437 rs104894818 GRCh37: X:70444024-70444024
GRCh38: X:71224174-71224174
23 GJB1 NM_000166.6(GJB1):c.77C>T (p.Ser26Leu) SNV Pathogenic 155726 rs587777876 GRCh37: X:70443634-70443634
GRCh38: X:71223784-71223784
24 GJB1 NM_000166.6(GJB1):c.44G>A (p.Arg15Gln) SNV Pathogenic 217169 rs863224974 GRCh37: X:70443601-70443601
GRCh38: X:71223751-71223751
25 GJB1 NM_000166.6(GJB1):c.490C>T (p.Arg164Trp) SNV Pathogenic 217170 rs139643362 GRCh37: X:70444047-70444047
GRCh38: X:71224197-71224197
26 GJB1 NM_000166.6(GJB1):c.-17G>A SNV Pathogenic 246014 rs879254047 GRCh37: X:70443185-70443185
GRCh38: X:71223335-71223335
27 GJB1 NM_000166.6(GJB1):c.514C>T (p.Pro172Ser) SNV Pathogenic 10432 rs104894811 GRCh37: X:70444071-70444071
GRCh38: X:71224221-71224221
28 GJB1 NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) SNV Pathogenic 10442 rs104894822 GRCh37: X:70444171-70444171
GRCh38: X:71224321-71224321
29 GJB1 NM_000166.6(GJB1):c.271G>A (p.Val91Met) SNV Pathogenic 195025 rs756928158 GRCh37: X:70443828-70443828
GRCh38: X:71223978-71223978
30 GJB1 NM_000166.6(GJB1):c.123G>C (p.Glu41Asp) SNV Pathogenic 21079 rs116840816 GRCh37: X:70443680-70443680
GRCh38: X:71223830-71223830
31 GJB1 NM_000166.6(GJB1):c.145T>C (p.Ser49Pro) SNV Pathogenic 21080 rs116840817 GRCh37: X:70443702-70443702
GRCh38: X:71223852-71223852
32 GJB1 NM_000166.6(GJB1):c.187G>A (p.Val63Ile) SNV Pathogenic 21081 rs116840818 GRCh37: X:70443744-70443744
GRCh38: X:71223894-71223894
33 GJB1 NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) SNV Pathogenic 21082 rs116840819 GRCh37: X:70443780-70443780
GRCh38: X:71223930-71223930
34 GJB1 NM_000166.6(GJB1):c.225del (p.Leu76fs) Deletion Pathogenic 21083 rs116840820 GRCh37: X:70443781-70443781
GRCh38: X:71223931-71223931
35 GJB1 NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) SNV Pathogenic 21084 rs116840815 GRCh37: X:70443600-70443600
GRCh38: X:71223750-71223750
36 GJB1 NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) SNV Pathogenic 21085 rs116840822 GRCh37: X:70444093-70444093
GRCh38: X:71224243-71224243
37 GJB1 NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) SNV Pathogenic 21086 rs116840821 GRCh37: X:70444113-70444113
GRCh38: X:71224263-71224263
38 GJB1 NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) SNV Pathogenic 155727 rs587777879 GRCh37: X:70444347-70444347
GRCh38: X:71224497-71224497
39 GJB1 NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) SNV Pathogenic 217167 rs863224972 GRCh37: X:70443781-70443781
GRCh38: X:71223931-71223931
40 GJB1 NM_000166.6(GJB1):c.415G>A (p.Val139Met) SNV Pathogenic 10433 rs104894812 GRCh37: X:70443972-70443972
GRCh38: X:71224122-71224122
41 GJB1 NM_000166.6(GJB1):c.283G>A (p.Val95Met) SNV Pathogenic 10441 rs104894821 GRCh37: X:70443840-70443840
GRCh38: X:71223990-71223990
42 GJB1 NM_000166.6(GJB1):c.254C>G (p.Ser85Cys) SNV Pathogenic 10444 rs104894823 GRCh37: X:70443811-70443811
GRCh38: X:71223961-71223961
43 GJB1 NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) SNV Pathogenic 10446 rs104894824 GRCh37: X:70443721-70443721
GRCh38: X:71223871-71223871
44 GJB1 NM_000166.6(GJB1):c.292C>T (p.Gln98Ter) SNV Pathogenic 1028587 GRCh37: X:70443849-70443849
GRCh38: X:71223999-71223999
45 GJB1 NM_000166.6(GJB1):c.590C>T (p.Ala197Val) SNV Pathogenic 617760 rs1569215418 GRCh37: X:70444147-70444147
GRCh38: X:71224297-71224297
46 GJB1 NM_000166.6(GJB1):c.394T>C (p.Trp132Arg) SNV Pathogenic 617787 rs1569215263 GRCh37: X:70443951-70443951
GRCh38: X:71224101-71224101
47 GJB1 NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) SNV Pathogenic 447441 rs1555937020 GRCh37: X:70443621-70443621
GRCh38: X:71223771-71223771
48 GJB1 NM_000166.6(GJB1):c.281A>G (p.His94Arg) SNV Pathogenic 637565 rs1602349095 GRCh37: X:70443838-70443838
GRCh38: X:71223988-71223988
49 GJB1 NM_000166.6(GJB1):c.392_393TG[1] (p.Trp132fs) Microsatellite Pathogenic 521808 rs1555937168 GRCh37: X:70443951-70443952
GRCh38: X:71224099-71224100
50 GJB1 NM_000166.6(GJB1):c.47A>T (p.His16Leu) SNV Pathogenic 637615 rs1602348610 GRCh37: X:70443604-70443604
GRCh38: X:71223754-71223754

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

72 (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 rs155593698
3 GJB1 p.Tyr7Cys VAR_002008
4 GJB1 p.Thr8Pro VAR_002009
5 GJB1 p.Ser11Gly VAR_002010
6 GJB1 p.Gly12Ser VAR_002011 rs155593699
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

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 10.81 PMP22 MPZ GJB1

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 early endosome membrane GO:0031901 9.33 MTMR2 LITAF FIG4
2 myelin sheath GO:0043209 9.26 MPZ GJC2
3 gap junction GO:0005921 9.13 GJC3 GJC2 GJB1
4 connexin complex GO:0005922 8.8 GJC3 GJC2 GJB1

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 phosphatidylinositol dephosphorylation GO:0046856 9.46 MTMR2 FIG4
2 protein targeting to mitochondrion GO:0006626 9.43 MFN2 GDAP1
3 peripheral nervous system development GO:0007422 9.4 PMP22 EGR2
4 phosphatidylinositol metabolic process GO:0046488 9.37 MTMR2 FIG4
5 mitochondrial fusion GO:0008053 9.32 MFN2 GDAP1
6 negative regulation of myelination GO:0031642 9.26 MTMR2 FIG4
7 peripheral nervous system myelin maintenance GO:0032287 9.16 SH3TC2 PRX
8 cell communication GO:0007154 9.13 GJC3 GJC2 GJB1
9 myelin assembly GO:0032288 8.8 PMP22 MTMR2 FIG4

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 phosphatidylinositol-3-phosphatase activity GO:0004438 8.96 MTMR2 FIG4
2 gap junction channel activity GO:0005243 8.8 GJC3 GJC2 GJB1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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