MGME1 gene related symptoms and diseases

All the information presented here about the MGME1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MGME1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
External ophthalmoplegia Very Common - Between 80% and 100% cases
Limb muscle weakness Very Common - Between 80% and 100% cases
Stage 5 chronic kidney disease Very Common - Between 80% and 100% cases
Nausea Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MGME1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Generalized muscle weakness
  • Amenorrhea
  • Primary amenorrhea
  • Hypergonadotropic hypogonadism
  • Exercise intolerance
  • Respiratory insufficiency due to muscle weakness
  • Dilated cardiomyopathy
  • Ragged-red muscle fibers

And 32 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MGME1 gene

Here you will find a list of rare diseases related to the MGME1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME


Alternate names

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME Is also known as mitochondrial dna maintenance syndrome due to mgme1 deficiency, peo-myopathy-emaciation syndrome, mtdna maintenance syndrome due to mgme1 deficiency

Description

Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.

Most common symptoms of PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME

  • Intellectual disability
  • Microcephaly
  • Muscle weakness
  • Ptosis
  • Skeletal muscle atrophy


More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for MGME1 gene

mtDNA Depletion/Integrity Panel (MitomeNGS) Panel

United States.

By Baylor Miraca Genetics Laboratories mtDNA Depletion/Integrity Panel (MitomeNGS) that also includes the following genes: SLC25A4 SUCLA2 SUCLG1 SUCLG2 TWNK TK2 MGME1 RRM2B DGUOK TYMP

More info about this panel

MGME1 Familial Mutation/Variant Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MGME1 gene.

More info about this panel

MGME1 Prenatal Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MGME1 gene.

More info about this panel

MGME1 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MGME1 gene.

More info about this panel

PEO Panel (MitomeNGS) Panel

United States.

By Baylor Miraca Genetics Laboratories PEO Panel (MitomeNGS) that also includes the following genes: SLC25A4 TWNK MGME1 RRM2B OPA1 OPA3 POLG POLG2

More info about this panel

Mitochondrial Depletion Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Mitochondrial Depletion Panel that also includes the following genes: SLC25A4 SPG7 SUCLA2 SUCLG1 TWNK TFAM TK2 FBXL4 APTX MGME1

More info about this panel

Neuromuscular Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2

More info about this panel

Mitochondrial DNA depletion syndrome type 11 (sequence analysis of MGME1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MGME1 gene.

More info about this panel

Mitochondrial DNA depletion syndrome type 11 (deletions/duplications analysis of MGME1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MGME1 gene.

More info about this panel

Progressive external ophthalmoplegia (NGS panel of 12 genes) Panel

Portugal.

By CGC Genetics Progressive external ophthalmoplegia (NGS panel of 12 genes) that also includes the following genes: SLC25A4 TWNK TK2 MGME1 RRM2B RNASEH1 DGUOK DNA2 TYMP OPA1

More info about this panel

Mitochondrial DNA depletion syndrome type 11 (deletions/duplications analysis of MGME1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MGME1 gene.

More info about this panel

Progressive external ophthalmoplegia (NGS panel of 12 genes) Panel

Portugal.

By CGC Genetics Progressive external ophthalmoplegia (NGS panel of 12 genes) that also includes the following genes: SLC25A4 TWNK TK2 MGME1 RRM2B RNASEH1 DGUOK DNA2 TYMP OPA1

More info about this panel

MGME1-Related Mitochondrial DNA Depletion Syndrome via MGME1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MGME1 gene.

More info about this panel

Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection that also includes the following genes: SLC25A3 SLC25A4 SPG7 SUCLA2 SUCLG1 SUCLG2 TWNK TK2 FBXL4 APTX

More info about this panel

Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

MGME1 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the MGME1 gene.

More info about this panel

Kearns Sayre syndrome Panel

Germany.

By MGZ Medical Genetics Center Kearns Sayre syndrome that also includes the following genes: SLC25A4 TK2 MGME1 RRM2B C12orf65 POLG POLG2

More info about this panel

Mitochondrial Depletion Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Depletion that also includes the following genes: SUCLA2 SUCLG1 TWNK TK2 MGME1 RRM2B DGUOK TYMP GFER MPV17

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Mitochondrial Diseases Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12

More info about this panel

Mitochondriopathy – Chronic Progressive External Ophthalmoplegia (CPEO) Panel

Germany.

By MGZ Medical Genetics Center Mitochondriopathy – Chronic Progressive External Ophthalmoplegia (CPEO) that also includes the following genes: SLC25A4 SPG7 TWNK TK2 MGME1 RRM2B TYMP POLG POLG2

More info about this panel

Mitochondrial DNA depletion syndrome type 11 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MGME1 gene.

More info about this panel

Comprehensive mtDNA Depletion Syndromes NGS Panel Panel

United States.

By MNG Laboratories (Medical Neurogenetics, LLC.) Comprehensive mtDNA Depletion Syndromes NGS Panel that also includes the following genes: SLC25A4 SUCLA2 SUCLG1 TWNK TK2 FBXL4 CHCHD10 MGME1 RRM2B DGUOK

More info about this panel

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Single gene testing MGME1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the MGME1 gene.

More info about this panel

MGME1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MGME1 gene.

More info about this panel


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