Autosomal Dominant Charcot-marie-tooth Disease Type 2j

Table of contents:

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

Description

Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.

Genes related to Autosomal Dominant Charcot-marie-tooth Disease Type 2j

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Dominant Charcot-marie-tooth Disease Type 2j

Hearing impairment
Sensorineural hearing impairment
Peripheral neuropathy
Skeletal muscle atrophy
Dysphagia
Vomiting
Areflexia
Hyporeflexia
Pes cavus
Abnormality of the eye

And another 30 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Autosomal Dominant Charcot-marie-tooth Disease Type 2j Is also known as charcot-marie-tooth neuropathy, type 2j, cmt2j, charcot-marie-tooth disease, type 2, with hearing loss and pupillary abnormalities.

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.

Autosomal Dominant Charcot-marie-tooth Disease Type 2j 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 - Dominant, Axonal. By Athena Diagnostics Inc (United States). YARS, MFN2, TRPV4, DNM2, HSPB8, GARS, HSPB1, LMNA, MPZ, NEFL, RAB7A Specificity 10 % 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 - Axonal. By Athena Diagnostics Inc (United States). YARS, GDAP1, MFN2, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, MPZ, NEFL, RAB7A Specificity 8 % 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 %
MPZ DNA Sequencing Test. By Athena Diagnostics Inc (United States). MPZ Specificity 100 % Genes 100 %
Congenital Hypomyelination Evaluation. By Athena Diagnostics Inc (United States). EGR2, MPZ Specificity 50 % Genes 100 %

You can get up to 99 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY CORNEA PLANA 2, AUTOSOMAL RECESSIVE; CNA2 BRODY MYOPATHY