CMTX
MCID: XLN110
MIFTS: 45

X-Linked Charcot-Marie-Tooth Disease (CMTX)

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

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

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

Name: X-Linked Charcot-Marie-Tooth Disease 53 59
X-Linked Hereditary Motor and Sensory Neuropathy 53 59 29 6
Cmtx 53 59
Charcot-Marie-Tooth Disease, X-Linked, 1 72
Charcot-Marie-Tooth, X-Linked 6

Characteristics:

Orphanet epidemiological data:

59
x-linked charcot-marie-tooth disease
Inheritance: X-linked dominant,X-linked recessive;

Classifications:



External Ids:

ICD10 via Orphanet 34 G60.0
Orphanet 59 ORPHA64747
UMLS 72 C0393808

Summaries for X-Linked Charcot-Marie-Tooth Disease

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 64747DefinitionA disorder that 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 dominant trait 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, 3 and charcot-marie-tooth disease, x-linked recessive, 5, 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 are Gap junction trafficking and Transport of connexins along the secretory pathway. The drugs Dexamethasone and Mercaptopurine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and bone, and related phenotypes are Decreased viability and Decreased viability

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

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
X-Linked Charcot-Marie-Tooth Disease

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

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, x-linked recessive, 3 33.5 GJB1 CMTX3
2 charcot-marie-tooth disease, x-linked recessive, 5 33.5 PRPS1 GJB1
3 cowchock syndrome 32.4 PRPS1 GJB1
4 tooth disease 31.7 PRPS1 GJB1
5 charcot-marie-tooth disease 29.5 PRPS1 PDK3 GJB2 GJB1 DLX4
6 charcot-marie-tooth disease, x-linked dominant, 1 12.4
7 charcot-marie-tooth disease, x-linked dominant, 6 12.3
8 charcot-marie-tooth disease, x-linked recessive, 2 12.0
9 charcot-marie-tooth neuropathy x type 1 11.1
10 neuropathy 11.0
11 peripheral nervous system disease 11.0
12 sensory peripheral neuropathy 10.9
13 branchiootic syndrome 1 10.8
14 muscular atrophy 10.7
15 hereditary neuropathies 10.7
16 charcot-marie-tooth disease, demyelinating, type 1a 10.7
17 sensorineural hearing loss 10.7
18 polyneuropathy 10.7
19 multiple sclerosis 10.6
20 ataxia and polyneuropathy, adult-onset 10.6
21 amyotrophic lateral sclerosis 1 10.5
22 arts syndrome 10.5
23 charcot-marie-tooth disease type 5 10.5
24 lateral sclerosis 10.5
25 axonal neuropathy 10.5
26 dysphagia 10.5
27 tremor 10.5
28 seizures, benign familial neonatal, 1 10.4
29 neuropathy, hereditary, with liability to pressure palsies 10.4
30 pheochromocytoma 10.4
31 3-methylglutaconic aciduria, type iii 10.4
32 deafness, x-linked 1 10.4
33 neuropathy, congenital hypomyelinating, 1, autosomal recessive 10.4
34 slowed nerve conduction velocity, autosomal dominant 10.4
35 mitochondrial dna depletion syndrome 4b 10.4
36 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
37 charcot-marie-tooth disease type x 10.4
38 adrenal gland pheochromocytoma 10.4
39 stuttering 10.4
40 hemiplegia 10.4
41 respiratory failure 10.4
42 relapsing-remitting multiple sclerosis 10.4
43 demyelinating disease 10.4
44 central nervous system disease 10.4
45 demyelinating polyneuropathy 10.4
46 acute disseminated encephalomyelitis 10.4
47 hyperthyroidism 10.4
48 charcot-marie-tooth neuropathy x type 5 10.4
49 dfnx1 nonsyndromic hearing loss and deafness 10.4
50 chronic inflammatory demyelinating polyneuropathy 10.4

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



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

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

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:

26
# 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

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

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

(show top 50) (show all 79)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
2
Mercaptopurine Approved Phase 3 50-44-2 667490
3
Pegaspargase Approved, Investigational Phase 3 130167-69-0
4
Ifosfamide Approved Phase 3 3778-73-2 3690
5
Levoleucovorin Approved, Investigational Phase 3 68538-85-2
6
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
7
leucovorin Approved Phase 3 58-05-9 143 6006
8
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
9
Ichthammol Approved Phase 3 8029-68-3
10
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
11
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
12
Etoposide Approved Phase 3 33419-42-0 36462
13
Daunorubicin Approved Phase 3 20830-81-3 30323
14
Thioguanine Approved Phase 3 154-42-7 2723601
15
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
16
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
17
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
18
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
19
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
20
Bortezomib Approved, Investigational Phase 3 179324-69-7 93860 387447
21
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
22
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
23
Cortisone Experimental Phase 3 53-06-5 222786
24
Emodepside Investigational, Vet_approved Phase 3 155030-63-0
25 Micronutrients Phase 3
26 Gastrointestinal Agents Phase 3
27 Trace Elements Phase 3
28 Antiemetics Phase 3
29 2-Aminopurine Phase 3
30 Alkylating Agents Phase 3
31 Anti-Inflammatory Agents Phase 3
32 Antidotes Phase 3
33 Antineoplastic Agents, Phytogenic Phase 3
34 Folic Acid Antagonists Phase 3
35 Peripheral Nervous System Agents Phase 3
36 HIV Protease Inhibitors Phase 3
37 Hormones Phase 3
38
Liposomal doxorubicin Phase 3 31703
39 glucocorticoids Phase 3
40
protease inhibitors Phase 3
41 Vitamins Phase 3
42 Anti-Infective Agents Phase 3
43 Hydrocortisone-17-butyrate Phase 3
44 Vitamin B9 Phase 3
45 Hematinics Phase 3
46 Folate Phase 3
47 Anti-Bacterial Agents Phase 3
48 Protective Agents Phase 3
49 Tubulin Modulators Phase 3
50 Antibiotics, Antitubercular Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase III Randomized Trial Investigating Bortezomib (NSC# 681239) on a Modified Augmented BFM (ABFM) Backbone in Newly Diagnosed T-Lymphoblastic Leukemia (T-ALL) and T-Lymphoblastic Lymphoma (T-LLy) Active, not recruiting NCT02112916 Phase 3 Bortezomib;Cyclophosphamide;Cytarabine;Daunorubicin;Daunorubicin Hydrochloride;Dexamethasone;Doxorubicin;Doxorubicin Hydrochloride;Etoposide;Hydrocortisone Sodium Succinate;Ifosfamide;Leucovorin Calcium;Mercaptopurine;Methotrexate;Pegaspargase;Thioguanine;Vincristine;Vincristine Sulfate
2 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Types 1 and X Recruiting NCT03124459 Phase 2 ACE-083;Placebo
3 An Open-Label Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) Previously Enrolled in Study A083-02 and in Patients With Charcot-Marie Tooth (CMT) Disease Types 1 and X Previously Enrolled in Study A083-03 Recruiting NCT03943290 Phase 2 ACE-083
4 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734

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

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

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

# Genetic test Affiliating Genes
1 X-Linked Hereditary Motor and Sensory Neuropathy 29 GJB1

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

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

41
Brain, Testes, Bone

Publications for X-Linked Charcot-Marie-Tooth Disease

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

(show top 50) (show all 171)
# Title Authors PMID Year
1
Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease. 38
31323543 2019
2
CNS phenotype in X linked Charcot- Marie-Tooth disease. 38
30518545 2019
3
A novel mutation in PRPS1 gene causes X-linked Charcot-Marie-Tooth disease-5. 38
31434166 2019
4
Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X. 38
31411673 2019
5
New novel mutations in Brazilian families with X-linked Charcot-Marie-Tooth disease. 38
31119804 2019
6
X-linked Charcot-Marie-Tooth Disease Presenting with Stuttering Stroke-like Symptoms. 38
31220874 2019
7
X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness. 38
30177296 2019
8
X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association. 38
30196252 2019
9
A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms. 38
31068899 2019
10
Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1. 38
29998508 2018
11
Acetylation of C-terminal lysines modulates protein turnover and stability of Connexin-32. 38
30268116 2018
12
A novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4. 38
30031633 2018
13
Anaesthesia and orphan diseases: anaesthetic management of a patient with X-linked Charcot-Marie-Tooth disease type 1. 38
29870477 2018
14
Reversible lesions of the corpus callosum with initially restricted diffusion in a series of Caucasian children. 38
29666887 2018
15
[Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with heterozygote mutation of GJB1 gene: case report of a female patient]. 38
29710024 2018
16
An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features. 38
29236290 2018
17
Coexistence of Amyotrophic Lateral Sclerosis in the Proband of an X-Linked Charcot-Marie-Tooth Disease Type 1 Pedigree in China. 38
29629536 2018
18
Intrathecal gene therapy in mouse models expressing CMT1X mutations. 38
29462293 2018
19
Preimplantation genetic diagnosis of X-linked Charcot-Marie-Tooth disease by indirect linkage analysis. 38
28797703 2018
20
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. 38
29111421 2018
21
The Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits. 38
30013503 2018
22
A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes. 38
28888069 2017
23
X-linked Charcot-Marie-Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: A case report. 38
29245364 2017
24
Charcot-Marie-Tooth Disease 1X Simulating Paraparetic Guillain-Barre Syndrome. 38
29095325 2017
25
Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1. 38
28448691 2017
26
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). 38
28768847 2017
27
Deletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease. 38
28601552 2017
28
Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT. 38
28283593 2017
29
Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic. 38
28097225 2017
30
Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease. 38
27585976 2016
31
CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction. 38
27098243 2016
32
A Review of X-linked Charcot-Marie-Tooth Disease. 38
26385972 2016
33
Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients. 38
27098783 2016
34
Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy. 38
27035961 2016
35
Secondary structural analysis of the carboxyl-terminal domain from different connexin isoforms. 38
26542351 2016
36
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease. 38
26173962 2016
37
X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene. 38
26801680 2016
38
Intraneural GJB1 gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease. 38
26010264 2015
39
A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32. 38
25771809 2015
40
GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems. 38
25370202 2015
41
Connexin: a potential novel target for protecting the central nervous system? 38
26170830 2015
42
A novel mutation in GJB1 (c.212T>G) in a Chinese family with X-linked Charcot-Marie-Tooth disease. 38
25595958 2015
43
Relapsing remitting multiple sclerosis in x-linked charcot-marie-tooth disease with central nervous system involvement. 38
25883816 2015
44
Episodic neurological dysfunction in hereditary peripheral neuropathy. 38
25745327 2015
45
Gene expression profiling studies in regenerating nerves in a mouse model for CMT1X: uninjured Cx32-knockout peripheral nerves display expression profile of injured wild type nerves. 38
25447941 2015
46
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. 38
25043634 2014
47
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. 38
25086786 2014
48
Charcot-Marie-Tooth disease masquerading as acute demyelinating encephalomyelitis-like illness. 38
24958582 2014
49
Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. Phenotypic variability and central nervous system involvement. 38
24768312 2014
50
Axonal excitability in X-linked dominant Charcot Marie Tooth disease. 38
24290847 2014

Variations for X-Linked Charcot-Marie-Tooth Disease

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

6 (show top 50) (show all 70)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GJB1 NM_000166.6(GJB1): c.-103C> T single nucleotide variant Pathogenic rs863224971 X:70443099-70443099 X:71223249-71223249
2 GJB1 NM_000166.6(GJB1): c.44G> A (p.Arg15Gln) single nucleotide variant Pathogenic rs863224974 X:70443601-70443601 X:71223751-71223751
3 GJB1 NM_000166.6(GJB1): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs863224972 X:70443781-70443781 X:71223931-71223931
4 GJB1 NM_000166.6(GJB1): c.319C> T (p.Arg107Trp) single nucleotide variant Pathogenic rs863224973 X:70443876-70443876 X:71224026-71224026
5 GJB1 NM_000166.6(GJB1): c.490C> T (p.Arg164Trp) single nucleotide variant Pathogenic rs139643362 X:70444047-70444047 X:71224197-71224197
6 GJB1 NM_000166.6(GJB1): c.259C> G (p.Pro87Ala) single nucleotide variant Pathogenic rs587777877 X:70443816-70443816 X:71223966-71223966
7 GJB1 NM_000166.6(GJB1): c.580A> G (p.Met194Val) single nucleotide variant Pathogenic rs587777878 X:70444137-70444137 X:71224287-71224287
8 GJB1 NM_000166.6(GJB1): c.77C> T (p.Ser26Leu) single nucleotide variant Pathogenic rs587777876 X:70443634-70443634 X:71223784-71223784
9 GJB1 NM_000166.6(GJB1): c.790C> T (p.Arg264Cys) single nucleotide variant Pathogenic rs587777879 X:70444347-70444347 X:71224497-71224497
10 GJB1 NM_000166.6(GJB1): c.172C> T (p.Pro58Ser) single nucleotide variant Pathogenic rs483352926 X:70443729-70443729 X:71223879-71223879
11 GJB1 NM_000166.6(GJB1): c.556G> A (p.Glu186Lys) single nucleotide variant Pathogenic rs116840821 X:70444113-70444113 X:71224263-71224263
12 GJB1 NM_000166.6(GJB1): c.43C> T (p.Arg15Trp) single nucleotide variant Pathogenic rs116840815 X:70443600-70443600 X:71223750-71223750
13 GJB1 NM_000166.6(GJB1): c.223C> T (p.Arg75Trp) single nucleotide variant Pathogenic rs116840819 X:70443780-70443780 X:71223930-71223930
14 GJB1 NM_000166.6(GJB1): c.187G> A (p.Val63Ile) single nucleotide variant Pathogenic rs116840818 X:70443744-70443744 X:71223894-71223894
15 GJB1 NM_000166.6(GJB1): c.407T> C (p.Val136Ala) single nucleotide variant Pathogenic rs104894826 X:70443964-70443964 X:71224114-71224114
16 GJB1 GJB1, -526G-C single nucleotide variant Pathogenic
17 GJB1 GJB1, 21-BP DUP duplication Pathogenic
18 GJB1 NM_000166.6(GJB1): c.164C> T (p.Thr55Ile) single nucleotide variant Pathogenic rs104894824 X:70443721-70443721 X:71223871-71223871
19 GJB1 GJB1, -528T-G single nucleotide variant Pathogenic
20 GJB1 NM_000166.6(GJB1): c.89T> A (p.Ile30Asn) single nucleotide variant Pathogenic rs104894817 X:70443646-70443646 X:71223796-71223796
21 GJB1 NM_000166.6(GJB1): c.658C> T (p.Arg220Ter) single nucleotide variant Pathogenic rs104894814 X:70444215-70444215 X:71224365-71224365
22 GJB1 NM_000166.6(GJB1): c.397T> C (p.Trp133Arg) single nucleotide variant Pathogenic rs104894813 X:70443954-70443954 X:71224104-71224104
23 GJB1 NM_000166.6(GJB1): c.415G> A (p.Val139Met) single nucleotide variant Pathogenic rs104894812 X:70443972-70443972 X:71224122-71224122
24 GJB1 NM_000166.6(GJB1): c.514C> T (p.Pro172Ser) single nucleotide variant Pathogenic rs104894811 X:70444071-70444071 X:71224221-71224221
25 GJB1 NM_000166.6(GJB1): c.424C> T (p.Arg142Trp) single nucleotide variant Pathogenic rs104894810 X:70443981-70443981 X:71224131-71224131
26 GJB1 GJB1, 3-BP DEL, 304GAG deletion Pathogenic
27 GJB1 GJB1, 367G-T single nucleotide variant Pathogenic
28 GJB1 NM_000166.6(GJB1): c.614A> G (p.Asn205Ser) single nucleotide variant Pathogenic rs104894822 X:70444171-70444171 X:71224321-71224321
29 GJB1 NM_000166.6(GJB1): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic rs104894821 X:70443840-70443840 X:71223990-71223990
30 GJB1 GJB1, 1-BP DEL deletion Pathogenic
31 GJB1 NM_000166.6(GJB1): c.37G> T (p.Val13Leu) single nucleotide variant Pathogenic rs104894820 X:70443594-70443594 X:71223744-71223744
32 GJB1 NM_000166.6(GJB1): c.194A> G (p.Tyr65Cys) single nucleotide variant Pathogenic rs104894819 X:70443751-70443751 X:71223901-71223901
33 GJB1 NM_000166.6(GJB1): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs1555937020 X:70443621-70443621 X:71223771-71223771
34 GJB1 NM_000166.6(GJB1): c.467T> G (p.Leu156Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894818 X:70444024-70444024 X:71224174-71224174
35 GJB1 NM_000166.6(GJB1): c.547C> T (p.Arg183Cys) single nucleotide variant Pathogenic/Likely pathogenic rs863224471 X:70444104-70444104 X:71224254-71224254
36 GJB1 NM_000166.6(GJB1): c.536G> A (p.Cys179Tyr) single nucleotide variant Likely pathogenic rs116840822 X:70444093-70444093 X:71224243-71224243
37 GJB1 NM_000166.6(GJB1): c.-16-2A> G single nucleotide variant Likely pathogenic rs751230398 X:70443540-70443540 X:71223690-71223690
38 GJB1 NM_000166.6(GJB1): c.425G> A (p.Arg142Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs786204123 X:70443982-70443982 X:71224132-71224132
39 GJB1 NM_000166.6(GJB1): c.123G> C (p.Glu41Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs116840816 X:70443680-70443680 X:71223830-71223830
40 GJB1 NM_000166.6(GJB1): c.394T> C (p.Trp132Arg) single nucleotide variant Conflicting interpretations of pathogenicity X:70443951-70443951 X:71224101-71224101
41 GJB1 NM_000166.6(GJB1): c.225del (p.Leu76fs) deletion Conflicting interpretations of pathogenicity rs116840820 X:70443782-70443782 X:71223932-71223932
42 GJB1 NM_000166.6(GJB1): c.254C> G (p.Ser85Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs104894823 X:70443811-70443811 X:71223961-71223961
43 GJB1 NM_000166.6(GJB1): c.145T> C (p.Ser49Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs116840817 X:70443702-70443702 X:71223852-71223852
44 GJB1 NM_000166.6(GJB1): c.590C> T (p.Ala197Val) single nucleotide variant Conflicting interpretations of pathogenicity X:70444147-70444147 X:71224297-71224297
45 PRPS1 NM_002764.3(PRPS1): c.*538G> C single nucleotide variant Uncertain significance rs1057515727 X:106893800-106893800 X:107650570-107650570
46 PRPS1 NM_002764.3(PRPS1): c.*538G> T single nucleotide variant Uncertain significance rs1057515727 X:106893800-106893800 X:107650570-107650570
47 PRPS1 NM_002764.3(PRPS1): c.*159G> A single nucleotide variant Uncertain significance rs747334780 X:106893421-106893421 X:107650191-107650191
48 PRPS1 NM_002764.3(PRPS1): c.*88C> T single nucleotide variant Uncertain significance rs1057515726 X:106893350-106893350 X:107650120-107650120
49 PRPS1 NM_002764.3(PRPS1): c.*938dup duplication Uncertain significance rs1057515728 X:106894200-106894200 X:107650970-107650970
50 PRPS1 NM_002764.3(PRPS1): c.*762G> T single nucleotide variant Uncertain significance rs768310830 X:106894024-106894024 X:107650794-107650794

Expression for X-Linked Charcot-Marie-Tooth Disease

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

Pathways for X-Linked Charcot-Marie-Tooth Disease

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

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 GJB2 GJB1
2 gap junction GO:0005921 8.96 GJB2 GJB1
3 connexin complex GO:0005922 8.62 GJB2 GJB1

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 GJB2 GJB1
2 gap junction assembly GO:0016264 8.96 GJB2 GJB1
3 epididymis development GO:1905867 8.62 GJB2 GJB1

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 GJB2 GJB1

Sources for X-Linked Charcot-Marie-Tooth Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
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69 SNOMED-CT via HPO
70 TGDB
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73 UMLS via Orphanet
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