Charcot-marie-tooth Disease And Deafness

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Charcot-marie-tooth Disease And Deafness

PMP22

View recommended genes panels

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.

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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 Panel complete gene list YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1, NEFL, PMP22, RAB7A 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 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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