MECR gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to MECR gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Dystonia Very Common - Between 80% and 100% cases
Involuntary movements Very Common - Between 80% and 100% cases
Chorea Very Common - Between 80% and 100% cases
Dyskinesia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Abnormality of eye movement
  • Abnormality of the eye
  • Difficulty walking
  • Reduced visual acuity
  • Myoclonus
  • Dysphagia
  • Ataxia
  • Gait disturbance

And 8 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MECR gene

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


MEPAN SYNDROME


Alternate names

MEPAN SYNDROME Is also known as childhood-onset generalized dystonia-optic atrophy syndrome, dystonia 29, dyt29, autosomal recessive childhood-onset dystonia, dyt29 type, dystonia 29, childhood-onset, mitochondrial enoyl coa reductase protein-associated neurodegeneration syndrome

Description

Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an autosomal recessive neurologic disorder characterized by onset of involuntary movements in the first decade of life. Optic atrophy develops around the same time or slightly later. Severity is variable, and some patients lose independent ambulation. Brain imaging shows abnormalities in the basal ganglia. Cognition appears to be unaffected (summary by Heimer et al., 2016).

Most common symptoms of MEPAN SYNDROME

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Visual impairment


More info about MEPAN SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for MECR gene

Dystonia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing Panel

United States.

By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing that also includes the following genes: SCP2 SQSTM1 KMT2B PANK2 TRIM32 VPS13A MECR SLC39A14 FA2H CP

More info about this panel

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication Panel

United States.

By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication that also includes the following genes: SCP2 SQSTM1 KMT2B PANK2 TRIM32 VPS13A MECR SLC39A14 FA2H CP

More info about this panel

MECR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MECR gene.

More info about this panel


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