Mitochondrial Dna Depletion Syndrome 14 (cardioencephalomyopathic Type); Mtdps14

Clinical Features

Top most frequent phenotypes and symptoms related to Mitochondrial Dna Depletion Syndrome 14 (cardioencephalomyopathic Type); Mtdps14

  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Feeding difficulties
  • Skeletal muscle atrophy
  • Optic atrophy
  • Cardiomyopathy
  • Hypertonia
  • Hypertrophic cardiomyopathy
  • Muscular hypotonia of the trunk

And another 10 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Mitochondrial Dna Depletion Syndrome 14 (cardioencephalomyopathic Type); Mtdps14 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
OPA1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

OPA1
Specificity
100 %
Genes
100 %
OPA1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

OPA1
Specificity
100 %
Genes
100 %
OPA1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

OPA1
Specificity
100 %
Genes
100 %
mtDNA Depletion/Integrity Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

SLC25A4, SUCLA2, SUCLG1, SUCLG2, TWNK, TK2, MGME1, RRM2B, DGUOK, TYMP, MPV17, OPA1, OPA3, POLG, POLG2
Specificity
7 %
Genes
100 %
PEO Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

SLC25A4, TWNK, MGME1, RRM2B, OPA1, OPA3, POLG, POLG2
Specificity
13 %
Genes
100 %
OPA1 DNA Sequencing Test (Related to mtDNA depletion).

By Athena Diagnostics Inc (United States).

OPA1
Specificity
100 %
Genes
100 %
Progressive External Ophthalmoplegia Evaluation (POLG, TWINKLE, ANT1, OPA1, MELAS).

By Athena Diagnostics Inc (United States).

SLC25A4, TWNK, MT-TL1, OPA1, POLG
Specificity
20 %
Genes
100 %

You can get up to 99 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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