Charcot-marie-tooth Disease, Axonal, Type 2i; Cmt2i

Clinical Features

Top most frequent phenotypes and symptoms related to Charcot-marie-tooth Disease, Axonal, Type 2i; Cmt2i

  • Muscle weakness
  • Peripheral neuropathy
  • Gait disturbance
  • Areflexia
  • Hyporeflexia
  • Pes cavus
  • Distal muscle weakness
  • Abnormality of the foot
  • Distal amyotrophy
  • Distal sensory impairment

And another 6 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Charcot-marie-tooth Disease, Axonal, Type 2i; Cmt2i Is also known as charcot-marie-tooth neuropathy, type 2i.

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.


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Charcot-marie-tooth Disease, Axonal, Type 2i; Cmt2i 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
16 %
Genes
100 %
CMT Advanced Evaluation - Dominant, Demyelinating.

By Athena Diagnostics Inc (United States).

YARS, LITAF, DNM2, EGR2, MPZ, PMP22
Specificity
17 %
Genes
50 %
CMT Advanced Evaluation - Dominant, Axonal.

By Athena Diagnostics Inc (United States).

YARS, MFN2, TRPV4, DNM2, HSPB8, GARS, HSPB1, LMNA, MPZ, NEFL, RAB7A
Specificity
19 %
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
9 %
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
16 %
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
50 %
MPZ DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

MPZ
Specificity
100 %
Genes
50 %
Congenital Hypomyelination Evaluation.

By Athena Diagnostics Inc (United States).

EGR2, MPZ
Specificity
50 %
Genes
50 %

We have 134 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA; HH20 DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR DEAFNESS, X-LINKED 4; DFNX4 HOLT-ORAM SYNDROME CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O 2Q23.1 MICRODELETION SYNDROME

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