Diabetes And Deafness, Maternally Inherited; Midd

Description

Maternally inherited diabetes-deafness syndrome (MIDD) is a mitochondrial disorder characterized by onset of sensorineural hearing loss and diabetes in adulthood. Some patients may have additional features observed in mitochondrial disorders, including pigmentary retinopathy, ptosis, cardiomyopathy, myopathy, renal problems, and neuropsychiatric symptoms (Ballinger et al., 1992; Reardon et al., 1992; Guillausseau et al., 2001).The association of diabetes and deafness is observed with Wolfram syndrome (see {222300}), Rogers syndrome (OMIM ), and Herrmann syndrome (OMIM ), but all 3 of these disorders have other clinical manifestations.

Clinical Features

Top most frequent phenotypes and symptoms related to Diabetes And Deafness, Maternally Inherited; Midd

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Ptosis
  • Cataract
  • Muscle weakness
  • Myopathy
  • Visual impairment
And another 39 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Diabetes And Deafness, Maternally Inherited; Midd have a estimated prevalence of 0.1 per 100k worldwide.


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Diabetes And Deafness, Maternally Inherited; Midd 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
50 %
Genes
67 %
MERRF mtDNA Evaluation.

By Athena Diagnostics Inc in United States.

MT-TK
Specificity
100 %
Genes
34 %
Myoclonus with epilepsy with ragged red fibers.

By Center for Human Genetics, Inc in United States.

MT-TK
Specificity
100 %
Genes
34 %
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
2 %
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
9 %
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
10 %
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
2 %
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
3 %
Genes
67 %
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
34 %
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
34 %
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
34 %
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
34 %
Myoclonic epilepsy associated with ragged-red fibers (MERRF, A8344G mutation).

By CGC Genetics in Portugal.

MT-TK
Specificity
100 %
Genes
34 %
MERRF.

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

MT-TK
Specificity
100 %
Genes
34 %
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
67 %
MERRF.

By MGZ Medical Genetics Center in Germany.

MT-TK
Specificity
100 %
Genes
34 %
MERRF/MELAS Overlap Syndrome.

By MGZ Medical Genetics Center in Germany.

MT-TK
Specificity
100 %
Genes
34 %
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
9 %
Genes
100 %
MERRF syndrome.

By Centogene AG - the Rare Disease Company in Germany.

MT-TK
Specificity
100 %
Genes
34 %
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
10 %
Genes
67 %
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
9 %
Genes
100 %
MERFF.

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

MT-TK
Specificity
100 %
Genes
34 %
MERRF, MT-TK sequencing.

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

MT-TK
Specificity
100 %
Genes
34 %
Myoclonic epilepsy with red ragged fibers.

By Praxis fuer Humangenetik Wien in Austria.

MT-TK
Specificity
100 %
Genes
34 %
Myoclonic epilepsy with red ragged fibers.

By MedGene in Slovakia.

MT-TK
Specificity
100 %
Genes
34 %
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
100 %
Genes
67 %
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
34 %
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
9 %
Genes
100 %
MERRF syndrome.

By Bioarray in Spain.

MT-TK
Specificity
100 %
Genes
34 %
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
5 %
Genes
67 %
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
7 %
Genes
67 %
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
34 %
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
2 %
Genes
67 %
Mitochondrial myopathy, infantile, transient, MT-TE related.

By Centogene AG - the Rare Disease Company in Germany.

MT-TE
Specificity
100 %
Genes
34 %
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Evaluation (TYMP, RRM2B, MELAS).

By Athena Diagnostics Inc in United States.

RRM2B, TYMP, MT-TL1
Specificity
34 %
Genes
34 %
Progressive External Ophthalmoplegia Evaluation (POLG, TWINKLE, ANT1, OPA1, MELAS).

By Athena Diagnostics Inc in United States.

TWNK, OPA1, POLG, SLC25A4, MT-TL1
Specificity
20 %
Genes
34 %
MELAS mtDNA Evaluation.

By Athena Diagnostics Inc in United States.

MT-TL1
Specificity
100 %
Genes
34 %
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke.

By Center for Human Genetics, Inc in United States.

MT-TL1
Specificity
100 %
Genes
34 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

USH1G, USH1C, TWNK, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
34 %
MTTL1. Detection of the mutations m.3243A>G, m.3271T>C and m.3252A>G by sequencing.

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

MT-TL1
Specificity
100 %
Genes
34 %
MT-TL1. Detection of the mutations m.3243A>G, m.3271T>C and m.3252A>G by sequencing.

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

MT-TL1
Specificity
100 %
Genes
34 %
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes [sequence analysis of MT-TL1 and MT-ND5 (m.13513G>A) genes].

By CGC Genetics in Portugal.

MT-TL1
Specificity
100 %
Genes
34 %
MELAS syndrome (sequence analysis of MTTL1 gene).

By CGC Genetics in Portugal.

MT-TL1
Specificity
100 %
Genes
34 %
Maternally Inherited Diabetes and Deafness (MIDD).

By Exeter Molecular Genetics Laboratory in United Kingdom.

MT-TL1
Specificity
100 %
Genes
34 %
Mitochondrial Cardiomyopathy - Sanger.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, MTO1, AGK, TMEM70, SLC25A3, SCO2, COX15, MT-TL1, MT-ATP6, MT-ATP8
Specificity
10 %
Genes
34 %
Diabetes and Hearing Loss.

By MGZ Medical Genetics Center in Germany.

MT-TL1
Specificity
100 %
Genes
34 %
MELAS, MT-TL1-Related.

By MGZ Medical Genetics Center in Germany.

MT-TL1
Specificity
100 %
Genes
34 %
MELAS syndrome.

By Centogene AG - the Rare Disease Company in Germany.

MT-TL1
Specificity
100 %
Genes
34 %
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
34 %
Maternally Inherited Diabetes and Deafness (MIDD, MT-TL1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

MT-TL1
Specificity
100 %
Genes
34 %
MELAS, MT-TL1-Related.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

MT-TL1
Specificity
100 %
Genes
34 %
MELAS, MT-TL1 sequencing.

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

MT-TL1
Specificity
100 %
Genes
34 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
34 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
34 %
MELAS, MT-TL1-Related.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

MT-TL1
Specificity
100 %
Genes
34 %
Vacterl, Associated with: Mutation analysis (A3243G).

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

MT-TL1
Specificity
100 %
Genes
34 %
Mitochondrial diabetes and deafness: Mutation analysis (A3243G).

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

MT-TL1
Specificity
100 %
Genes
34 %
Mitochondrial encephalopathy: Mutations analysis (A3243, A3253, C3256, T3271 and T3291).

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

MT-TL1
Specificity
100 %
Genes
34 %
Mitochondrial Encephalomyopathy: Lactic Acidosis (Stroke-like Episodes/MELAS).

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MT-TL1
Specificity
100 %
Genes
34 %
MELAS syndrome.

By Bioarray in Spain.

MT-TL1
Specificity
100 %
Genes
34 %

Alternate names

Diabetes And Deafness, Maternally Inherited; Midd Is also known as diabetes-deafness syndrome, maternally transmitted, ballinger-wallace syndrome, diabetes mellitus, type ii, with deafness, noninsulin-dependent diabetes mellitus with deafness, niddm with deafness;midd; mitochondrial diabetes.



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