Charcot-marie-tooth Disease, Demyelinating, Type 1c; Cmt1c
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 1c; Cmt1c
- LITAF
Clinical Features
Phenotypes and symptoms related to Charcot-marie-tooth Disease, Demyelinating, Type 1c; Cmt1c
- Muscle weakness
- Hyporeflexia
- Pes cavus
- Distal muscle weakness
- Distal amyotrophy
- Distal sensory impairment
- Decreased motor nerve conduction velocity
- Onion bulb formation
- Segmental peripheral demyelination/remyelination
- Hypertrophic nerve changes
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 1c; Cmt1c Is also known as neuropathy, hereditary motor and sensory, type ic, hmsn ic, cmt, slow nerve conduction type c, charcot-marie-tooth neuropathy, type 1c, hmsn1c.
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 1c; Cmt1c 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 % |
LITAF/SIMPLE DNA Sequencing Test.
By Athena Diagnostics Inc (United States).
LITAF
Specificity
100 %
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 % |
Charcot-Marie-Tooth Hereditary Neuropathy Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SBF1, SLC12A6, SPG11, SURF1, TFG, VCP, YARS, PRX, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2 , (...)
View the complete list with 34 more genes
Specificity
2 %
Genes
100 % |
You can get up to 46 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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