Charcot-marie-tooth Disease, Demyelinating, Type 1d; Cmt1d
Description
For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (OMIM ).
Genes related to Charcot-marie-tooth Disease, Demyelinating, Type 1d; Cmt1d
- EGR2
Clinical Features
Phenotypes and symptoms related to Charcot-marie-tooth Disease, Demyelinating, Type 1d; Cmt1d
- Peripheral neuropathy
- Distal muscle weakness
- Distal amyotrophy
- Foot dorsiflexor weakness
- Steppage gait
- Decreased motor nerve conduction velocity
- Upper limb muscle weakness
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, Demyelinating, Type 1d; Cmt1d Is also known as hmsn id, hmsn1d, hereditary motor and sensory neuropathy 1d, charcot-marie-tooth neuropathy, type 1d.
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, Demyelinating, Type 1d; Cmt1d 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 % |
EGR2 DNA Sequencing Test.
By Athena Diagnostics Inc (United States).
EGR2
Specificity
100 %
Genes
100 % |
Congenital Hypomyelination Evaluation.
By Athena Diagnostics Inc (United States).
EGR2, MPZ
Specificity
50 %
Genes
100 % |
CMT Advanced Evaluation - Nonprevalent.
By Athena Diagnostics Inc (United States).
YARS, PRX, GDAP1, LITAF, FIG4, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MTMR2, NDRG1, NEFL, PMP22 , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
CMT Advanced Evaluation - Nonprevalent Demyelinating.
By Athena Diagnostics Inc (United States).
YARS, PRX, GDAP1, LITAF, FIG4, FGD4, SBF2, SH3TC2, DNM2, EGR2, GJB1, MTMR2, NDRG1, PMP22
Specificity
8 %
Genes
100 % |
You can get up to 76 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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