MORC2 gene related symptoms and diseases

All the information presented here about the MORC2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MORC2 gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Foot dorsiflexor weakness Very Common - Between 80% and 100% cases
Urinary incontinence Very Common - Between 80% and 100% cases
Sensory impairment Very Common - Between 80% and 100% cases
Split hand Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MORC2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Spastic gait
  • Clonus
  • Fasciculations
  • Sensorimotor neuropathy
  • Dysphonia
  • Sensory neuropathy
  • Hammertoe
  • Sensory axonal neuropathy

And 29 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to MORC2 gene

Here you will find a list of rare diseases related to the MORC2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z


Alternate 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

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 ).

Most common symptoms of AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness


More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z

SOURCES: ORPHANET OMIM


Potential gene panels for MORC2 gene

Charcot-Marie-Tooth Hereditary Neuropathy Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Charcot-Marie-Tooth Hereditary Neuropathy Panel that also includes the following genes: SBF1 SLC12A6 SPG11 SURF1 TFG VCP YARS PRX BSCL2 GDAP1

More info about this panel

Charcot-Marie-Tooth disease type 2Z (CMT2Z, sequence analysis of MORC2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MORC2 gene.

More info about this panel

Charcot-Marie-Tooth disease type 2Z (CMT2Z, sequence analysis of MORC2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MORC2 gene.

More info about this panel

Charcot-Marie-Tooth Disease Panel

Estonia.

By Asper Biogene Asper Biogene LLC Charcot-Marie-Tooth Disease that also includes the following genes: SBF1 SCN9A SPTLC1 SPTLC2 SURF1 TFG VCP YARS PRX SLC5A7

More info about this panel

Invitae Comprehensive Neuropathies Panel Panel

United States.

By Invitae Invitae Comprehensive Neuropathies Panel that also includes the following genes: SCN11A SCN9A DST SPG11 ATL1 SPTLC1 SPTLC2 TFG TTR UBA1

More info about this panel

Invitae Charcot-Marie-Tooth Disease Comprehensive Panel Panel

United States.

By Invitae Invitae Charcot-Marie-Tooth Disease Comprehensive Panel that also includes the following genes: SPG11 TFG YARS PRX BSCL2 GDAP1 TRIM2 LITAF FIG4 MFN2

More info about this panel

Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel Panel

United States.

By Invitae Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel that also includes the following genes: TFG YARS BSCL2 GDAP1 LITAF MFN2 TRPV4 AARS GNB4 MORC2

More info about this panel

MORC2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MORC2 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NR1I2 ZNF513

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more