Mitochondrial Myopathy With Diabetes

Clinical Features

Top most frequent phenotypes and symptoms related to Mitochondrial Myopathy With Diabetes

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Motor delay
  • Muscular hypotonia
  • Muscle weakness
  • Myopathy
  • Peripheral neuropathy
  • Dysarthria
  • Fatigue
And another 20 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.


Mendelian

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Mitochondrial Myopathy With Diabetes Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, AGL, ACADVL, ACAT1, YARS2, PC, GYS2, UQCRQ, ARG1, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Genome Sequence.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

MT-TL1, MT-TK, MT-ATP6, MT-ND1, MT-ND6, MT-ND4, MT-TS1, MT-TS2, MT-RNR1, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8, MT-TT, MT-TP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Mitochondrial Disorders (mtDNA) Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

MT-TL1, MT-TK, MT-ATP6, MT-TS1, MT-TS2, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8, MT-TT, MT-TP, MT-TG, MT-TI, MT-TN, MT-ND4L , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

MCCC2, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRQ, UQCRB, ATPAF2, BCKDHA, BCKDHB, BCS1L, TWNK, CPT2, OPA1, TRMU, WFS1, DLD , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
Mitochondrial genome panel.

By Centogene AG - the Rare Disease Company in Germany.

MT-TL1, MT-TK, MT-ATP6, MT-ND1, MT-ND6, MT-ND4, MT-TS1, MT-TS2, MT-RNR1, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8, MT-TT, MT-TP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Mitochondrial myopathy, infantile, transient, MT-TE related.

By Centogene AG - the Rare Disease Company in Germany.

MT-TE
Specificity
100 %
Genes
100 %
mtDNA encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MT-TL1, MT-TK, MT-ATP6, MT-ND1, MT-ND6, MT-ND4, MT-TS1, MT-TS2, MT-RNR1, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8, MT-TT, MT-TP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Mitochondrial diabetes and deafness: A8296G and T14709C mutation analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MT-TK, MT-TE
Specificity
50 %
Genes
100 %
Mitochondrial Genome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MT-TL1, MT-TK, MT-ATP6, MT-ND1, MT-ND6, MT-ND4, MT-TS1, MT-TS2, MT-RNR1, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8, MT-TT, MT-TP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %

Alternate names

Mitochondrial Myopathy With Diabetes Is also known as mitochondrial myopathy, lipid type;.


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