Mitochondrial Dna Depletion Syndrome 11; Mtdps11

Description

Mitochondrial DNA depletion syndrome-11 is an autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities (summary by Kornblum et al., 2013).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Mitochondrial Dna Depletion Syndrome 11; Mtdps11

  • Intellectual disability
  • Microcephaly
  • Ptosis
  • Muscle weakness
  • Myopathy
  • Skeletal muscle atrophy
  • Dysphagia
  • Cardiomyopathy
  • Respiratory insufficiency
  • Cerebellar atrophy
And another 33 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Mitochondrial Dna Depletion Syndrome 11; Mtdps11 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
mtDNA Depletion/Integrity Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

TWNK, OPA1, POLG, SLC25A4, RRM2B, OPA3, DGUOK, SUCLA2, POLG2, TK2, TYMP, MPV17, SUCLG1, MGME1, SUCLG2
Specificity
7 %
Genes
100 %
MGME1 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MGME1
Specificity
100 %
Genes
100 %
MGME1 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MGME1
Specificity
100 %
Genes
100 %
MGME1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MGME1
Specificity
100 %
Genes
100 %
PEO Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

TWNK, OPA1, POLG, SLC25A4, RRM2B, OPA3, POLG2, MGME1
Specificity
13 %
Genes
100 %
Mitochondrial Depletion Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

TWNK, OPA1, POLG, SLC25A4, RRM2B, MFN2, OPA3, AGK, DGUOK, ABAT, GFER, SUCLA2, POLG2, TK2, SPG7, TYMP, MPV17, SUCLG1, APTX, MGME1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATP7A, TWNK, GAA, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, CRYAB, VCP, AGK, CAVIN1, DPM3, SUCLA2, PNPLA2, REEP1, POLG2, TK2, DPM1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Mitochondrial DNA depletion syndrome type 11 (sequence analysis of MGME1 gene).

By CGC Genetics in Portugal.

MGME1
Specificity
100 %
Genes
100 %
Mitochondrial DNA depletion syndrome type 11 (deletions/duplications analysis of MGME1 gene).

By CGC Genetics in Portugal.

MGME1
Specificity
100 %
Genes
100 %
Progressive external ophthalmoplegia (NGS panel of 12 genes).

By CGC Genetics in Portugal.

TWNK, OPA1, POLG, SLC25A4, RRM2B, DGUOK, POLG2, TK2, TYMP, MGME1, DNA2, RNASEH1
Specificity
9 %
Genes
100 %
Mitochondrial DNA depletion syndrome type 11 (deletions/duplications analysis of MGME1 gene).

By CGC Genetics in Portugal.

MGME1
Specificity
100 %
Genes
100 %
Progressive external ophthalmoplegia (NGS panel of 12 genes).

By CGC Genetics in Portugal.

TWNK, OPA1, POLG, SLC25A4, RRM2B, DGUOK, POLG2, TK2, TYMP, MGME1, DNA2, RNASEH1
Specificity
9 %
Genes
100 %
MGME1-Related Mitochondrial DNA Depletion Syndrome via MGME1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MGME1
Specificity
100 %
Genes
100 %
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TWNK, OPA1, POLG, SLC25A4, RRM2B, MFN2, OPA3, AGK, DGUOK, SUCLA2, SLC25A3, POLG2, TK2, SPG7, TYMP, MPV17, SUCLG1, APTX, MGME1, SUCLG2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AARS2, ACAD9, YARS2, UQCRQ, UQCRB, ATP5F1E, ATPAF2, BCS1L, TWNK, C12orf65, ELAC2, OPA1, TRMU, DLD, POLG, NDUFS4, SLC25A4, GARS, AFG3L2, FOXRED1 , (...)

View the complete list with 154 more genes
Specificity
1 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
MGME1.

By MGZ Medical Genetics Center in Germany.

MGME1
Specificity
100 %
Genes
100 %
Kearns Sayre syndrome.

By MGZ Medical Genetics Center in Germany.

C12orf65, POLG, SLC25A4, RRM2B, POLG2, TK2, MGME1
Specificity
15 %
Genes
100 %
Mitochondrial Depletion.

By MGZ Medical Genetics Center in Germany.

TWNK, POLG, RRM2B, DGUOK, GFER, SUCLA2, TK2, TYMP, AIFM1, MPV17, SUCLG1, MGME1
Specificity
9 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Diseases.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SDHAF2, CPT2, OPA1, TRMU , (...)

View the complete list with 148 more genes
Specificity
1 %
Genes
100 %
Mitochondriopathy – Chronic Progressive External Ophthalmoplegia (CPEO).

By MGZ Medical Genetics Center in Germany.

TWNK, POLG, SLC25A4, RRM2B, POLG2, TK2, SPG7, TYMP, MGME1
Specificity
12 %
Genes
100 %
Mitochondrial DNA depletion syndrome type 11.

By Centogene AG - the Rare Disease Company in Germany.

MGME1
Specificity
100 %
Genes
100 %
Comprehensive mtDNA Depletion Syndromes NGS Panel.

By MNG Laboratories (Medical Neurogenetics, LLC.) in United States.

TWNK, OPA1, POLG, SLC25A4, AFG3L2, RRM2B, DGUOK, SUCLA2, POLG2, TK2, TYMP, MPV17, SUCLG1, MGME1, FBXL4, CHCHD10
Specificity
7 %
Genes
100 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Single gene testing MGME1.

By CeGaT GmbH in Germany.

MGME1
Specificity
100 %
Genes
100 %
MGME1.

By Fulgent Genetics Fulgent Genetics in United States.

MGME1
Specificity
100 %
Genes
100 %

Alternate names

Mitochondrial Dna Depletion Syndrome 11; Mtdps11 Is also known as ;mitochondrial dna maintenance syndrome due to mgme1 deficiency; peo-myopathy-emaciation syndrome; mtdna maintenance syndrome due to mgme1 deficiency.



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