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.
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
Search interest in MGME1
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 United States.
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 United States.
MGME1 Prenatal Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the MGME1 gene.
More info about this panel United States.
MGME1 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the MGME1 gene.
More info about this panel United States.
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 United States.
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 United States.
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 United States.
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 Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 Germany.
MGME1 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the MGME1 gene.
More info about this panel Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 United States.
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 Germany.
Single gene testing MGME1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the MGME1 gene.
More info about this panel Germany.
MGME1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MGME1 gene.
More info about this panel United States.
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