Autosomal Dominant Charcot-marie-tooth Disease Type 2z

Description

Charcot-Marie-Tooth disease type 2Z (CMT2Z) is an autosomal dominant peripheral neuropathy characterized by onset, usually in the first decade, of distal lower limb muscle weakness and sensory impairment. The disorder is progressive, and affected individuals tend to develop upper limb and proximal muscle involvement in an asymmetric pattern, resulting in severe disability late in adulthood (summary by Sevilla et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

Clinical Features

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

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Spasticity
  • Flexion contracture
  • Motor delay
  • Peripheral neuropathy
  • Skeletal muscle atrophy

And another 32 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

Autosomal Dominant Charcot-marie-tooth Disease Type 2z Is also known as autosomal dominant charcot-marie-tooth disease type 2 due to morc2 mutation, cmt2z, charcot-marie-tooth disease, axonal, autosomal dominant, type 2z, charcot-marie-tooth neuropathy, type 2z.

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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Autosomal Dominant Charcot-marie-tooth Disease Type 2z Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Charcot-Marie-Tooth disease type 2Z (CMT2Z, sequence analysis of MORC2 gene).

By CGC Genetics (Portugal).

MORC2
Specificity
100 %
Genes
100 %
Charcot-Marie-Tooth disease type 2Z (CMT2Z, sequence analysis of MORC2 gene).

By CGC Genetics (Portugal).

MORC2
Specificity
100 %
Genes
100 %
Charcot-Marie-Tooth Disease.

By Asper Biogene Asper Biogene LLC (Estonia).

SBF1, SCN9A, SPTLC1, SPTLC2, SURF1, TFG, VCP, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
Invitae Comprehensive Neuropathies Panel.

By Invitae (United States).

SCN11A, SCN9A, DST, SPG11, ATL1, SPTLC1, SPTLC2, TFG, TTR, UBA1, VAPB, YARS, PRX, SLC5A7, WNK1, CHCHD10, BSCL2, GDAP1, TRIM2, SLC52A3 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Invitae Charcot-Marie-Tooth Disease Comprehensive Panel.

By Invitae (United States).

SPG11, TFG, YARS, PRX, BSCL2, GDAP1, TRIM2, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2, MORC2, INF2, LRSAM1, MED25, PLEKHG5 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel.

By Invitae (United States).

TFG, YARS, BSCL2, GDAP1, LITAF, MFN2, TRPV4, AARS, GNB4, MORC2, INF2, LRSAM1, DYNC1H1, DNM2, HSPB8, EGR2, GARS, HARS, HSPB1, LMNA , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
MORC2.

By Fulgent Genetics Fulgent Genetics (United States).

MORC2
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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