Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: XLN110
MIFTS: 36

X-Linked Charcot-Marie-Tooth Disease

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for X-Linked Charcot-Marie-Tooth Disease

About this section

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

Name: X-Linked Charcot-Marie-Tooth Disease 54
X-Linked Hereditary Motor and Sensory Neuropathy 54 30 6
Charcot-Marie-Tooth Disease, X-Linked, 1 74
Charcot-Marie-Tooth, X-Linked 6
Cmtx 54

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Metabolic diseases
Anatomical: Neuronal diseases Ear diseases Eye diseases Muscle diseases
See all MalaCards categories (disease lists)


External Ids:

UMLS 74 C0393808
Sources

Summaries for X-Linked Charcot-Marie-Tooth Disease

About this section
NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 64747Disease definitionX-linked Charcot-Marie-Tooth disease (CMTX) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.Clinical descriptionCMTX1 is characterized by a slowly progressive course: muscle wasting and weakness of distal limb muscles mainly involving the feet, legs and hands (particularly the thenar eminence), with proximal muscle weakness occurring in severe cases; distal sensory loss; loss of deep tendon reflexes; pes cavus and more rarely scoliosis. Rare instances of transient central nervous system (CNS) dysfunction have been described, with dysarthria, dysphagia, weakness, ataxia, and even aphasia and somnolence. All forms of CMTX are rare and are characterized by intellectual deficit (CMTX2, CMTX4), spastic paraplegia (CMTX3), hearing loss (CMTX4, CMTX5, rarely CMTX1), and optic atrophy (CMTX5).EtiologyCMTX1 is associated with mutations in the GJB1 gene (Xq13.1), encoding connexin 32 (Cx32). Cx32 forms gap-junctions in non-compact myelin produced by myelinating Schwann cells. Cx32 is also expressed in oligodendrocytes, explaining the potential CNS involvement. CMTX5 is associated with mutations in the phosphoribosylpyrophosphate synthetase 1 gene (PRPS1). CMTX1 is transmitted as an X-linked dominanttrait and males are more severely affected than females, whereas the other CMTX types are X-linked recessive and female carriers are usually unaffected.Diagnostic methodsDiagnosis is based on family and personal history, clinical examination, nerve conduction studies (NCS), and DNA testing (for CMTX1). NCS show a sensorimotor polyneuropathy with decreased conduction velocities in males (usually in the intermediate range of 30-45 m/s in upper limb motor nerves) and mildly decreased or even normal velocities in females. In contrast with other CMT types, conduction slowing is frequently nonhomogeneous, with temporal dispersion and sometimes conduction blocks, and the median nerve being more severely affected than the ulnar nerve. Nerve biopsy reveals prominent axonal changes, in spite of nerve conduction slowing, with evidence of ultrastructural abnormalities in the paranodal regions. Auditory evoked potentials usually reveal abnormalities of central waves in the brainstem, consistent with frequent subclinical brain involvement in CMTX1.Differential diagnosisDifferential diagnosis includes other CMT types and acquired dysimmune neuropathies such as chronic inflammatory demyelinating polyradiculoneuropathy (see these terms).Antenatal diagnosisPrenatal diagnosis is possible for CMTX1 when the mutation is known.Genetic counselingAs an X-linked dominant trait, there is no male-to-male transmission; female carriers are usually mildly affected and have a 50% risk of transmitting the disease to their offspring.Management and treatmentThere is no drug treatment available. Rehabilitation therapy and surgical treatment of skeletal deformities are the only options.PrognosisCMTX1 is moderately severe for affected males, who may loose ambulation capacity later in life.Visit the Orphanet disease page for more resources.

MalaCards based summary : X-Linked Charcot-Marie-Tooth Disease, also known as x-linked hereditary motor and sensory neuropathy, is related to charcot-marie-tooth disease, x-linked recessive, 5 and charcot-marie-tooth disease, x-linked recessive, 3, and has symptoms including tremor, paraparesis and numbness. An important gene associated with X-Linked Charcot-Marie-Tooth Disease is GJB1 (Gap Junction Protein Beta 1), and among its related pathways/superpathways is Gap junction trafficking. Affiliated tissues include brain, testes and eye, and related phenotypes are Decreased viability and Decreased viability

Sources

Related Diseases for X-Linked Charcot-Marie-Tooth Disease

About this section

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 X-Linked Charcot-Marie-Tooth Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, x-linked recessive, 5 33.4 GJB1 PRPS1
2 charcot-marie-tooth disease, x-linked recessive, 3 32.8 CMTX3 GJB1
3 cowchock syndrome 32.6 GJB1 PRPS1
4 tooth disease 32.0 GJB1 PRPS1
5 charcot-marie-tooth disease 30.5 DLX4 GJB1 GJB2 PDK3 PRPS1
6 charcot-marie-tooth disease, x-linked dominant, 1 12.3
7 charcot-marie-tooth disease, x-linked dominant, 6 12.2
8 charcot-marie-tooth disease, x-linked recessive, 2 11.9
9 multiple sclerosis 10.6
10 amyotrophic lateral sclerosis 1 10.4
11 seizures, benign familial neonatal, 1 10.4
12 arts syndrome 10.4
13 deafness, x-linked 1 10.4
14 neuropathy, hereditary motor and sensory, type via 10.4
15 neuropathy, congenital hypomyelinating, 1, autosomal recessive 10.4
16 intermittent claudication 10.4
17 charcot-marie-tooth disease type 5 10.4
18 lateral sclerosis 10.4
19 relapsing-remitting multiple sclerosis 10.4
20 demyelinating disease 10.4
21 acute disseminated encephalomyelitis 10.4
22 neuropathy 10.2
23 sensory peripheral neuropathy 10.2
24 erythrokeratodermia variabilis et progressiva 1 9.9 GJB1 GJB2
25 deafness, x-linked 2 9.9 GJB2 PRPS1
26 nonsyndromic deafness 9.6 GJB2 PRPS1

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



Diseases related to X-Linked Charcot-Marie-Tooth Disease
Sources

Symptoms & Phenotypes for X-Linked Charcot-Marie-Tooth Disease

About this section

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


tremor, paraparesis, numbness, monoparesis

GenomeRNAi Phenotypes related to X-Linked Charcot-Marie-Tooth Disease according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 8.92 GJB1 PDK3
2 Decreased viability GR00402-S-2 8.92 GJB1 PDK3
Sources

Drugs & Therapeutics for X-Linked Charcot-Marie-Tooth Disease

About this section

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

Sources

Genetic Tests for X-Linked Charcot-Marie-Tooth Disease

About this section

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

# Genetic test Affiliating Genes
1 X-Linked Hereditary Motor and Sensory Neuropathy 30 GJB1
Sources

Anatomical Context for X-Linked Charcot-Marie-Tooth Disease

About this section

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

42
Brain, Testes, Eye
Sources

Publications for X-Linked Charcot-Marie-Tooth Disease

About this section

Articles related to X-Linked Charcot-Marie-Tooth Disease:

(show top 50) (show all 121)
# Title Authors Year
1
X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness. ( 30177296 )
2019
2
X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association. ( 30196252 )
2019
3
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
4
Anaesthesia and orphan diseases: anaesthetic management of a patient with X-linked Charcot-Marie-Tooth disease type 1. ( 29870477 )
2018
5
Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1. ( 29998508 )
2018
6
The Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits. ( 30013503 )
2018
7
A novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4. ( 30031633 )
2018
8
CNS phenotype in X linked Charcot- Marie-Tooth disease. ( 30518545 )
2018
9
Preimplantation genetic diagnosis of X-linked Charcot-Marie-Tooth disease by indirect linkage analysis. ( 28797703 )
2018
10
Substitution impact of highly conserved arginine residue at position 75 in GJB1 gene in association with X-linked Charcot-Marie-tooth disease: A computational study. ( 29111421 )
2018
11
Coexistence of Amyotrophic Lateral Sclerosis in the Proband of an X-Linked Charcot-Marie-Tooth Disease Type 1 Pedigree in China. ( 29629536 )
2018
12
[Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with heterozygote mutation of GJB1 gene: case report of a female patient]. ( 29710024 )
2018
13
X-linked Charcot-Marie-Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: A case report. ( 29245364 )
2017
14
Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1. ( 28448691 )
2017
15
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). ( 28768847 )
2017
16
Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic. ( 28097225 )
2017
17
A Review of X-linked Charcot-Marie-Tooth Disease. ( 26385972 )
2016
18
X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene. ( 26801680 )
2016
19
Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients. ( 27098783 )
2016
20
Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease. ( 27585976 )
2016
21
GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems. ( 25370202 )
2015
22
A novel mutation in GJB1 (c.212T>G) in a Chinese family with X-linked Charcot-Marie-Tooth disease. ( 25595958 )
2015
23
Relapsing remitting multiple sclerosis in x-linked charcot-marie-tooth disease with central nervous system involvement. ( 25883816 )
2015
24
Intraneural GJB1 gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease. ( 26010264 )
2015
25
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation. ( 24528855 )
2014
26
Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. Phenotypic variability and central nervous system involvement. ( 24768312 )
2014
27
Novel familial pathogenic mutation in gap junction protein, beta-1 gene (GJB1) associated with transient neurological deficits in a patient with X-linked Charcot-Marie-Tooth disease. ( 25043634 )
2014
28
Transient, recurrent, white matter lesions in x-linked Charcot-Marie-tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case report. ( 25086786 )
2014
29
The central nervous system phenotype of X-linked Charcot-Marie-Tooth disease: a transient disorder of children and young adults. ( 23400245 )
2014
30
X-linked Charcot-Marie-Tooth disease predominates in a cohort of multiethnic Malaysian patients. ( 23649551 )
2014
31
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1). ( 23773993 )
2013
32
X-linked Charcot-Marie-Tooth disease. ( 23279425 )
2012
33
Diffusion tensor imaging and magnetic resonance spectroscopy of transient cerebral white matter lesions in X-linked Charcot-Marie-Tooth disease. ( 22341131 )
2012
34
Inflammatory demyelinating CNS disorder in a case of X-linked Charcot-Marie-Tooth disease: positive response to natalizumab. ( 22411047 )
2012
35
X inactivation in females with X-linked Charcot-Marie-Tooth disease. ( 22483671 )
2012
36
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease? ( 22771394 )
2012
37
X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans. ( 21291455 )
2012
38
A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease. ( 21504505 )
2011
39
A novel mutation of gap junction protein β 1 gene in X-linked Charcot-Marie-Tooth disease. ( 21607969 )
2011
40
Recurrent stroke-like episodes in X-linked Charcot-Marie-Tooth disease. ( 21900630 )
2011
41
A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth disease. ( 20857133 )
2011
42
A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood. ( 21282593 )
2011
43
MRI findings in X-linked Charcot-Marie-Tooth disease associated with a novel connexin 32 mutation. ( 21300330 )
2011
44
Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. ( 21254193 )
2011
45
Transient leukoencephalopathy associated with X-linked Charcot-Marie-Tooth disease. ( 20472869 )
2010
46
GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease. ( 20532933 )
2010
47
X-linked Charcot-Marie-Tooth disease with novel c.47A>T GJB1 gene mutation. ( 20626781 )
2010
48
Vocal cord paresis and probable X-linked Charcot-Marie-Tooth disease with novel GJB1 mutation. ( 20942588 )
2010
49
A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family. ( 21104867 )
2010
50
[Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease]. ( 20193560 )
2009
Sources

Variations for X-Linked Charcot-Marie-Tooth Disease

About this section

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

6 (show top 50) (show all 132)
# 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
Sources

Expression for X-Linked Charcot-Marie-Tooth Disease

About this section
Search GEO for disease gene expression data for X-Linked Charcot-Marie-Tooth Disease.
Sources

Pathways for X-Linked Charcot-Marie-Tooth Disease

About this section

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

# Super pathways Score Top Affiliating Genes
1
Gap junction trafficking 67
Show member pathways
 10.61 GJB1 GJB2
Sources

GO Terms for X-Linked Charcot-Marie-Tooth Disease

About this section

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

# Name GO ID Score Top Affiliating Genes
1 lateral plasma membrane GO:0016328 9.16 GJB1 GJB2
2 gap junction GO:0005921 8.96 GJB1 GJB2
3 connexin complex GO:0005922 8.62 GJB1 GJB2

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

# Name GO ID Score Top Affiliating Genes
1 cell communication GO:0007154 9.16 GJB1 GJB2
2 gap junction assembly GO:0016264 8.96 GJB1 GJB2
3 epididymis development GO:1905867 8.62 GJB1 GJB2

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

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJB1 GJB2
Sources

Sources for X-Linked Charcot-Marie-Tooth Disease

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....