Charcot-marie-tooth Disease And Deafness
Clinical Features
Top most frequent phenotypes and symptoms related to Charcot-marie-tooth Disease And Deafness
- Hearing impairment
- Sensorineural hearing impairment
- Peripheral neuropathy
- Areflexia
- Hyporeflexia
- Pes cavus
- Distal muscle weakness
- Limb muscle weakness
- Distal amyotrophy
- Distal sensory impairment
And another 7 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Charcot-marie-tooth Disease And Deafness Is also known as charcot-marie-tooth disease, demyelinating, type 1e, cmt1e, charcot-marie-tooth neuropathy and deafness, autosomal dominant.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Charcot-marie-tooth Disease And Deafness Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
CMT Advanced Evaluation - Dominant.
By Athena Diagnostics Inc (United States).
YARS, LITAF, MFN2, TRPV4, DNM2, HSPB8, EGR2, GARS, HSPB1, MPZ, NEFL, PMP22, RAB7A
Specificity
8 %
Genes
100 % |
CMT Advanced Evaluation - Dominant, Demyelinating.
By Athena Diagnostics Inc (United States).
YARS, LITAF, DNM2, EGR2, MPZ, PMP22
Specificity
17 %
Genes
100 % |
CMT Advanced Evaluation - Comprehensive.
By Athena Diagnostics Inc (United States).
YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1 , (...)
View the complete list with 3 more genes
Specificity
5 %
Genes
100 % |
CMT Advanced Evaluation - Demyelinating.
By Athena Diagnostics Inc (United States).
YARS, PRX, GDAP1, LITAF, FIG4, FGD4, SBF2, SH3TC2, DNM2, EGR2, GJB1, MPZ, MTMR2, NDRG1, PMP22
Specificity
7 %
Genes
100 % |
Complete HNPP Evaluation.
By Athena Diagnostics Inc (United States).
PMP22
Specificity
100 %
Genes
100 % |
PMP22 Duplication/Deletion DNA Test.
By Athena Diagnostics Inc (United States).
PMP22
Specificity
100 %
Genes
100 % |
PMP22 DNA Sequencing Test.
By Athena Diagnostics Inc (United States).
PMP22
Specificity
100 %
Genes
100 % |
Entrapment Neuropathy Evaluation.
By Athena Diagnostics Inc (United States).
TTR, PMP22
Specificity
50 %
Genes
100 % |
You can get up to 117 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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