Maternally-inherited Cardiomyopathy And Hearing Loss

Description

Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.

Clinical Features

Top most frequent phenotypes and symptoms related to Maternally-inherited Cardiomyopathy And Hearing Loss

  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Peripheral neuropathy
  • Hyperreflexia
  • Hypertension
  • Gait disturbance
  • Abnormality of cardiovascular system morphology
  • Fatigue
  • Congestive heart failure
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.


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Maternally-inherited Cardiomyopathy And Hearing Loss Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Common Mitochondrial Disorders Evaluation (POLG, MELAS, MERRF, NARP).

By Athena Diagnostics Inc in United States.

POLG, MT-TL1, MT-TK, MT-ATP6
Specificity
25 %
Genes
100 %
MERRF mtDNA Evaluation.

By Athena Diagnostics Inc in United States.

MT-TK
Specificity
100 %
Genes
100 %
Myoclonus with epilepsy with ragged red fibers.

By Center for Human Genetics, Inc in United States.

MT-TK
Specificity
100 %
Genes
100 %
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 %
Comprehensive Cardiomyopathy Panel.

By GeneDx in United States.

TTR, DSP, CRYAB, RAF1, TAZ, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, MAP2K2, FKTN, LMNA, MT-TL1, MT-TK, MT-ND1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
100 %
HCM Sequencing Panel.

By GeneDx in United States.

TTR, GLA, MT-TK, CAV3, MYH7, MYBPC3, LAMP2, ACTC1, TNNC1, TNNI3, PRKAG2, TPM1, TNNT2, MYL2, MYL3, MT-TG, MT-TI, MT-TQ
Specificity
6 %
Genes
100 %
DCM/LVNC Sequencing Panel.

By GeneDx in United States.

TTR, TAZ, LMNA, MT-TK, MT-ND1, MT-ND6, TTN, DES, MYH7, LDB3, MYBPC3, EMD, TCAP, SGCD, SCN5A, MT-TS1, MT-TS2, LAMP2, ACTC1, ANKRD1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
MTTK. Detection of the mutations m.8344A>G, m.8356T>C, m.8361G>A and m.8363G>A by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MT-TK
Specificity
100 %
Genes
100 %
MT-TK. Detection of the mutations m.8344A>G, m.8356T>C, m.8361G>A and m.8363G>A by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MT-TK
Specificity
100 %
Genes
100 %
Myoclonic epilepsy associated with ragged-red fibers (MERRF, A8344G mutation).

By CGC Genetics in Portugal.

MT-TK
Specificity
100 %
Genes
100 %
MERRF.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

MT-TK
Specificity
100 %
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 %
MERRF.

By MGZ Medical Genetics Center in Germany.

MT-TK
Specificity
100 %
Genes
100 %
MERRF/MELAS Overlap Syndrome.

By MGZ Medical Genetics Center in Germany.

MT-TK
Specificity
100 %
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 %
MERRF syndrome.

By Centogene AG - the Rare Disease Company in Germany.

MT-TK
Specificity
100 %
Genes
100 %
Mitochondrial dysfunctions panel.

By Centogene AG - the Rare Disease Company in Germany.

PC, TWNK, POLG, RRM2B, DGUOK, SUCLA2, TK2, TYMP, PUS1, MPV17, SUCLG1, MT-TL1, MT-TK, MT-ND1, MT-ND6, MT-TS1, MT-TS2, MT-ND5, MT-TP, MT-TH , (...)

View the complete list with 2 more genes
Specificity
5 %
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 %
MERFF.

By Centre for Inherited Metabolic Diseases Karolinska University Hospital in Sweden.

MT-TK
Specificity
100 %
Genes
100 %
MERRF, MT-TK sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

MT-TK
Specificity
100 %
Genes
100 %
Myoclonic epilepsy with red ragged fibers.

By Praxis fuer Humangenetik Wien in Austria.

MT-TK
Specificity
100 %
Genes
100 %
Myoclonic epilepsy with red ragged fibers.

By MedGene in Slovakia.

MT-TK
Specificity
100 %
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 %
Myoclonic epilepsy with ragged red fibers (MERFF): Mutations analysis (A8344G and T8356C).

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

MT-TK
Specificity
100 %
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 %
MERRF syndrome.

By Bioarray in Spain.

MT-TK
Specificity
100 %
Genes
100 %
Comprehensive Cardiomyopathy Panel.

By ApolloGen, Inc. in United States.

TTR, PSEN1, TAZ, GLA, LMNA, MT-TL1, MT-TK, PSEN2, CAV3, DES, MYH7, LDB3, MYBPC3, TCAP, SGCD, SCN5A, MT-TS1, MT-TS2, LAMP2, ABCC9 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Dilated Cardiomyopathy Panel.

By ApolloGen, Inc. in United States.

PSEN1, TAZ, LMNA, MT-TL1, MT-TK, PSEN2, DES, MYH7, LDB3, MYBPC3, TCAP, SGCD, SCN5A, MT-TS1, MT-TS2, ABCC9, ACTC1, LAMA4, TNNI3, MYH6 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Hypertrophic Cardiomyopathy Panel.

By ApolloGen, Inc. in United States.

TTR, GLA, MT-TK, CAV3, MYH7, MYBPC3, LAMP2, BMPR2, TNNC1, TNNI3, PRKAG2, TPM1, TNNT2, MYL2, MYL3, MT-TG, MT-TI, MT-TQ
Specificity
6 %
Genes
100 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel.

By Otogenetics in United States.

USH1G, USH1C, BCS1L, PDZD7, EYA4, WFS1, JAG1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, SOX2, FGFR3 , (...)

View the complete list with 109 more genes
Specificity
1 %
Genes
100 %

Alternate names

Maternally-inherited Cardiomyopathy And Hearing Loss Is also known as maternally-inherited cardiomyopathy and deafness; trna-lys-related cardiomyopathy-hearing loss syndrome.



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