Mitochondrial Dna Depletion Syndrome 12a (cardiomyopathic Type), Autosomal Dominant; Mtdps12a

Description

MTDPS12A is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies (summary by Thompson et al., 2016).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Mitochondrial Dna Depletion Syndrome 12a (cardiomyopathic Type), Autosomal Dominant; Mtdps12a

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Respiratory insufficiency
  • Cardiomyopathy
  • Hyporeflexia
  • Acidosis
  • Hypertrophic cardiomyopathy
  • Lactic acidosis
  • Inability to walk

And another 4 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Mitochondrial Dna Depletion Syndrome 12a (cardiomyopathic Type), Autosomal Dominant; Mtdps12a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 %
SLC25A4 (ANT1) Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SLC25A4
Specificity
100 %
Genes
100 %
SLC25A4 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SLC25A4
Specificity
100 %
Genes
100 %
SLC25A4 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SLC25A4
Specificity
100 %
Genes
100 %
SLC25A4 (ANT1) Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

SLC25A4
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 %
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 %

We have 60 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WRINKLY SKIN SYNDROME; WSS SPONDYLOOCULAR SYNDROME; SOS PITUITARY APOPLEXY ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO HIRSCHSPRUNG DISEASE VATER/VACTERL ASSOCIATION BIRDSHOT CHORIORETINOPATHY

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more